Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS phenotype. Although recent pathophysiological studies using animal models have shown that ciliary dysfunction may induce hydrocephalus, there have been no reports of BBS with intracranial hypertension. We here describe a 9-year-old Japanese girl who was diagnosed as having BBS and later received renal transplantation due to chronic renal failure. She also exhibited intracranial hypertension, including papilledema and increased intrathecal pressure (260-300mmH2O), but her brain magnetic resonance imaging was normal. No genetic abnormalities were detected by DNA chip analysis or exome sequencing. Her papilledema improved following administration of acetazolamide. This is the first report of a case of BBS complicated with intracranial hypertension and its treatment. PMID:24290075
Saida, Ken; Inaba, Yuji; Hirano, Makito; Satake, Wataru; Toda, Tatsushi; Suzuki, Yutaka; Sudo, Asuka; Noda, Shunsuke; Hidaka, Yoshihiko; Hirabayashi, Kazutaka; Imai, Hiroki; Kurokawa, Toru; Koike, Kenichi
Bardet-Biedl syndrome is an autosomal recessive disorder with obesity, polydactly, retinitis pigmentosa, hypogenitalism, intellectual impairment and varying degree of renal abnormalities. Fewer than ten cases of paediatric renal transplantation for BBS have been reported in literature so far. This is the only case report of BBS transplant urolithiasis which was dealt with percutaneous nephrolithotomy and has been stone free for seven years. This is a complex case with a rare genetic disorder, renal transplant, renal stone, ileal conduit, long loop and inversely placed kidney. This case exemplifies the need for multidisciplinary management of complex cases and emphasises PCNL as the safe method.
Polizois, Konstantinos; Bradley, Alison J; Rao, Poduri N
The Bardet–Biedl syndrome (BBS) is a significant genetic cause of chronic and end-stage renal failure in children. Despite\\u000a being a relatively rare recessive condition, BBS has come to prominence during the past few years owing to revelations of\\u000a primary cilia dysfunction underlying pathogenesis. The study of this multi-system disorder, which includes obesity, cognitive\\u000a impairment, genito-urinary tract malformations and limb deformities,
Jonathan L. Tobin; Philip L. Beales
McKusick-Kaufman syndrome (MKS, OMIM #236700) is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP), and congenital cardiac disease (CHD). The syndrome is caused by mutations in the MKKS gene mapped onto chromosome 20p12 between D20S162 and D20S894 markers. Mutations in the same gene causes Bardet-Biedl-6 syndrome (BBS-6, OMIM #209900) inherited in an autosomal recessive pattern. BBS-6 comprises retinitis pigmentosa, polydactyly, obesity, mental retardation, renal and genital anomalies. HMC, CHD, and PAP defects can also occur in BBS-6, and there is a significant clinical overlap between MKS and BBS-6 in childhood. We describe a new borderline case of MKS and BBS syndrome and suggest insights for understanding correlation between MKKS gene mutations and clinical phenotype. Here, we report the results of molecular analysis of MKKS in a female proband born in an Italian nonconsanguineous healthy family that presents HMC and PAP. The mutational screening revealed the presence of two different heterozygous missense variants (p.242A>S in exon 3, p.339 I>V in exon 4) in the MKKS gene, and a nucleotide variation in 5'UTR region in exon 2 (-417 A>C). PMID:22090721
Chetta, Massimiliano; Bukvic, Nenad; Bafunno, Valeria; Sarno, Michelina; Magaldi, Rosario; Grilli, Gianpaolo; Bertozzi, Vincenzo; Perfetto, Francesco; Margaglione, Maurizio
McKusick-Kaufman syndrome (MKS, OMIM #236700) is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP), and congenital cardiac disease (CHD). The syndrome is caused by mutations in the MKKS gene mapped onto chromosome 20p12 between D20S162 and D20S894 markers. Mutations in the same gene causes Bardet-Biedl-6 syndrome (BBS-6, OMIM #209900) inherited in an autosomal recessive pattern. BBS-6 comprises retinitis pigmentosa, polydactyly, obesity, mental retardation, renal and genital anomalies. HMC, CHD, and PAP defects can also occur in BBS-6, and there is a significant clinical overlap between MKS and BBS-6 in childhood. We describe a new borderline case of MKS and BBS syndrome and suggest insights for understanding correlation between MKKS gene mutations and clinical phenotype. Here, we report the results of molecular analysis of MKKS in a female proband born in an Italian nonconsanguineous healthy family that presents HMC and PAP. The mutational screening revealed the presence of two different heterozygous missense variants (p.242A>S in exon 3, p.339 I>V in exon 4) in the MKKS gene, and a nucleotide variation in 5’UTR region in exon 2 (-417 A>C).
Chetta, Massimiliano; Bukvic, Nenad; Bafunno, Valeria; Sarno, Michelina; Magaldi, Rosario; Grilli, Gianpaolo; Bertozzi, Vincenzo; Perfetto, Francesco; Margaglione, Maurizio
This is a case report of Bardet-Biedl syndrome with a urogenital sinus and an ectopic right ureter presenting with acute renal failure in the neonatal period in a female baby. Acute renal failure in these patients is commonly known to occur around 5-7 y of age and neonatal presentation is extremely rare. PMID:23918321
Bedi, Nandini K; Grover, Dhruv
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous, and to date 18 genes (BBS1-18) have been described. Mutations in known BBS genes account for approximately 70-80% of cases, and triallelic inheritance has been suggested in about 5%. Many minor features can be helpful in making the clinical diagnosis. Recently, the use of next-generation sequencing technologies has accelerated the identification of novel genes and causative disease mutations in known genes. This report presents a concise overview of the current knowledge on clinical data in BBS and the progress in molecular genetics research. A future objective will be the development of BBS diagnosis kits in order to offer genetic counseling for families at risk. PMID:24715851
M'hamdi, O; Ouertani, I; Chaabouni-Bouhamed, H
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous, and to date 18 genes (BBS1-18) have been described. Mutations in known BBS genes account for approximately 70-80% of cases, and triallelic inheritance has been suggested in about 5%. Many minor features can be helpful in making the clinical diagnosis. Recently, the use of next-generation sequencing technologies has accelerated the identification of novel genes and causative disease mutations in known genes. This report presents a concise overview of the current knowledge on clinical data in BBS and the progress in molecular genetics research. A future objective will be the development of BBS diagnosis kits in order to offer genetic counseling for families at risk.
M'hamdi, O.; Ouertani, I.; Chaabouni-Bouhamed, H.
Bardet-Biedl syndrome (BBS, OMIM 209900) is a ciliopathy causing multivisceral abnormalities. This disease is mainly characterized by obesity, post-axial polydactyly, hypogenitalism, intellectual disabilities, pigmentary retinopathy, and renal deficiency. The prevalence of BBS has been estimated in different populations, ranging from 1 in 160,000 in European populations to 1 in 13,000 in Bedouins from Kuwait. In the present report, we present the first epidemiological study of Bardet-Biedl syndrome in Tunisia. From 1984 to 2009, 46 Tunisian families, including 67 affected members, were diagnosed as BBS. The patients' ages ranged between 6 months and 37 years, with median age of 10.4 years. High level of consanguinity was noted in our cohort (93.47%). The overall minimum prevalence in our population was estimated to be approximately 1 in 156,000 individuals. Our study reflects the actual frequency of BBS in North Africa and showed that this disease seems uncommon. PMID:22109794
M'hamdi, Oussama; Ouertani, Ines; Maazoul, Faouzi; Chaabouni-Bouhamed, Habiba
. From a handful of uncloned genetic loci 6 years ago, great strides have been made in understanding the genetic and molecular\\u000a aetiology of Bardet-Biedl syndrome (BBS), a rare pleiotropic disorder characterised by a multitude of symptoms, including\\u000a obesity, retinal degeneration and cystic kidneys. Presently, 11 BBS genes have been cloned, with the likelihood that yet more BBS genes remain undiscovered. In
O. E. Blacque; M. R. Leroux
Bardet-Biedl syndrome is a rare autosomal recessive disease characterized by dysphormic extremities, retinal dystrophy, obesity, hypogenitalism in males, and renal structural abnormalities. Because the clinical outcome of these patients is not well known, 21 families with Bardet-Biedl syndrome (BBS) were studied to determine the natural history of the disease. In a prospective cohort study, 38 patients with the syndrome and
Daneile O'Dea; Patrick S. Parfrey; John D. Harnett; Donna Hefferton; Benvon C. Cramer; Jane Green
The Bardet-Biedl syndrome (BBS) is a human genetic disorder with an array of clinical features affecting many body systems. BBS is a pleiotropic disorder with mostly monogenic causes. It is also considered a primary ciliopathy syndrome. It is characterised by obesity, pigmentary retinopathy, polydactyly, mental deficiency and hypogonadism and recently a sixth feature, renal disease, has also been described. Since none of the diverse symptoms of BBS by itself is diagnostic of the disorder and many of the symptoms only become apparent over time, diagnosis of the BBS is often delayed until about 9 years of age when visual problems first appear. PMID:22604765
Majumdar, Utpal; Arya, Gaurav; Singh, Santosh; Pillai, Ajay; Nair, Preeti P
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with locus heterogeneity. None of the 'responsible' genes have previously been identified. Some BBS cases (approximately 10%) remain unassigned to the five previously mapped loci. McKusick-Kaufma syndrome (MKS) includes hydrometrocolpos, postaxial polydactyly and congenital heart disease, and is also inherited in an autosomal recessive manner. We ascertained 34 unrelated probands with classic features of BBS including retinitis pigmentosa (RP), obesity and polydactyly. The probands were from families unsuitable for linkage because of family size. We found MKKS mutations in four typical BBS probands (Table 1). The first is a 13-year-old Hispanic girl with severe RP, PAP, mental retardation and obesity (BMI >40). She was a compound heterozygote for a missense (1042GA, G52D) and a nonsense (1679TA, Y264stop) mutation in exon 3. Cloning and sequencing of the separate alleles confirmed that the mutations were present in trans. A second BBS proband (from Newfoundland), born to consanguineous parents, was homozygous for two deletions (1316delC and 1324-1326delGTA) in exon 3, predicting a frameshift. An affected brother was also homozygous for the deletions, whereas an unaffected sibling had two normal copies of MKKS. Both the proband and her affected brother had RP, PAP, mild mental retardation, morbid obesity (BMI >50 and 37, respectively), lobulated kidneys with prominent calyces and diabetes mellitus (diagnosed at ages 33 and 30, respectively). A deceased sister (DNA unavailable) had similar phenotypic features (RP with blindness by age 13, BMI >45, abnormal glucose tolerance test and IQ=64, vaginal atresia and syndactyly of both feet). Both parents and the maternal grandfather were heterozygous for the deletions. Genotyping with markers from the MKKS region confirmed homozygosity at 20p12 in both affected individuals. PMID:10973238
Slavotinek, A M; Stone, E M; Mykytyn, K; Heckenlively, J R; Green, J S; Heon, E; Musarella, M A; Parfrey, P S; Sheffield, V C; Biesecker, L G
Bardet-Biedl syndrome is an autosomal recessive disorder. It is characterized by cardinal anomalies including retinal dystrophy, digital malformations, mental retardation, obesity, and hypogonadism. Recently, renal anomalies also are mentioned among the cardinal signs. Although association of genital anomalies among affected boys are well known, the association of vaginal atresia and other structural genital anomalies are not mentioned among the less-common manifestations of Bardet-Biedl syndrome in girls. Two girls with Bardet-Biedl syndrome presented with hematometrocolpos in the preadolescent period and vaginal atresia was diagnosed. After surgical treatment and extended hospitalization, uncontrolled sepsis resulted in progressive renal failure and death of both patients. Vaginal atresia is often delayed or missed in the early childhood period. In girls with Bardet-Biedl syndrome, vaginal atresia or other structural genital anomalies should be evaluated more systematically during the initial diagnosis of the syndrome. In infancy, the evaluation of a child with vaginal atresia also should include the differential diagnosis of Bardet-Biedl syndrome. Vaginal atresia may either form a component of the syndrome, or girls who present with vaginal atresia in addition to other components of Bardet-Biedl syndrome might form a distinct entity. PMID:10211669
O?uzkurt, P; Tanyel, F C; Hiçsönmez, A
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder with multiple morphological abnormalities. Clinical diagnosis is based on the presence of central obesity, polydactyly, rod-cone dystrophy, varying degrees of learning disability, hypogonadism (in men) and renal abnormalities. Cardiac involvement is a rare condition. We present a 28-year-old male with complaints of progressive dyspnea and palpitation diagnosed as BBS and subaortic discrete membrane. Careful echocardiographic evaluation of patients with BBS, such as in this case report, may allow us to discover novel cardiac abnormalities in this patient population. PMID:23518940
Ar?k, Osman Ziya; Tekin, Kamuran; Türko?lu, Caner; Cayl?, Murat
The presence of hydrometrocolpos and postaxial polydactyly in a neonate can be caused by two genetic conditions; namely, McKusick-Kaufman syndrome and Bardet-Biedl syndrome. There are no distinct clinical features that allow discrimination between the two syndromes, as the cardinal features of rod-cone dystrophy, obesity, learning disability and renal dysfunction in Bardet-Biedl syndrome are age dependent. McKusick-Kaufman syndrome is characterized by vaginal atresia with hydrometrocolpos, postaxial polydactyly and congenital heart defect. Here we report an unusual presentation of Bardet-Biedl syndrome: a neonate born in a consanguineous family having an older sibling diagnosed with Bardet-Biedl syndrome presenting with postaxial polydactyly and vaginal atresia; the latter causing hydrometrocolpos, hydronephrosis and renal failure. Relief of urinary obstruction by exploratory laparotomy and aspiration of fluid, and vaginal reconstruction gradually reversed the hydronephrosis and renal failure. The patient developed end-stage renal failure towards the end of her first decade, possibly due to underlying renal pathology associated with Bardet-Biedl syndrome. PMID:18644538
Cherian, Mathew Punnachalil; Al-Sanna'a, Nouriya A; Ayyat, Faris M
Hydrometrocolpos (HMC) and post-axial polydactyly (PAP) are common to both McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome (BBS). We review reported cases of MKS and BBS presenting with HMC and PAP early in life to determine if there are clinical features that allow discrimination between the two syndromes as the primary features of retinitis pigmentosa, obesity, learning disability in BBS are age-dependent. We did not find any phenotypic features that allowed reliable differentiation between the two syndromes in the neonatal period. However, uterine, ovarian, and fallopian tube anomalies are more common in BBS patients, and it may be that these clinical features prove to be useful discriminating features. We conclude that sporadic female infants with HMC and PAP cannot be diagnosed with MKS until at least age 5 years and that monitoring for the complications of BBS should be performed in these patients. PMID:11102925
Slavotinek, A M; Biesecker, L G
Bardet-Biedl syndrome (BBS) and McKusick-Kaufman syndrome (MKKS) are rare congenital disorders of autosomal recessive inheritance. Because of the phenotypic overlap of both syndromes, including hydrometrocolpos (HMC) and postaxial polydactyly (PAP) in the neonatal stage, the potential for diagnostic confusion exists. A case of BBS with the initial presentation of MKKS is reported. MKKS was diagnosed during the neonatal period based on the classical findings of HMC together with vaginal atresia and PAP. However, follow-up examination after the age of 2 years revealed additional clinical features consistent with BBS, including mental retardation, obesity, and retinitis pigmentosa. A rehabilitation program was undertaken for the problems of moderate motor delay and slurred speech. MKKS may be considered as a variant of BBS. Careful monitoring for the complications of BBS including ophthalmologic, neurologic, and urologic assessments should be performed in patients with MKKS. PMID:15340663
Studies of the primary cilium, now known to be present in all cells, have undergone a revolution, in part, because mutation of many of its proteins causes a large number of diseases, including cystic kidney disease. Bardet–Biedl syndrome (BBS) is an inherited ciliopathy characterized, among other dysfunctions, by renal defects for which the precise role of the cilia in kidney
Vincent Marion; Dominique Schlicht; Anaďs Mockel; Sophie Caillard; Olivier Imhoff; Corinne Stoetzel; Paul van Dijk; Christian Brandt; Bruno Moulin; Hélčne Dollfus
Bardet-Biedl syndrome (BBS) is a pleiotropic, genetically heterogeneous disorder characterized by obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies, as well as hypertension and dia- betes. Multiple genes are known to independently cause BBS. These genes do not appear to code for the same functional category of proteins; yet, mutation of each results in a similar phenotype. Gene knockdown
Marwan K. Tayeh; Hsan-Jan Yen; John S. Beck; Charles C. Searby; Trudi A. Westfall; Hilary Griesbach; Val C. Sheffield; Diane C. Slusarski
Bardet-Biedl syndrome (BBS) is characterized by obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies as well as hypertension and diabetes. The nine known BBS genes do not appear to belong to the same functional category; yet mutation of these genes results in a nearly identical pleiotropic phenotype. Although the precise functions of the BBS proteins have yet to be
Hsan-Jan Yen; Marwan K. Tayeh; Robert F. Mullins; Edwin M. Stone; Val C. Sheffield; Diane C. Slusarski
Previous reports have described the diversity of the phenotypic expression of the Laurence-Moon and Bardet-Biedl syndrome. This report describes two brothers whose features include the previously unreported defect of oligodontia in addition to retinitis pigmentosa, hypogenitalism, strabismus, short stature, and developmental delay. The reports over the last century have emphasized the varied expression from family to family and even differences among members of the same family. This report broadens the already pleomorphic nature of this syndrome. PMID:2096358
Kobrin, J L; Ternand, C L; Knobloch, W H; Johnson, D D
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathic human genetic disorder with variable expression that is difficult to diagnose in pregnancy without known risk factors. Homozygosity testing has been shown to be a useful tool in identifying BBS mutations and candidate genes in affected individuals. We present the first case of prenatal diagnosis of BBS in consecutive pregnancies aided by homozygosity testing via SNP microarray analysis. This case demonstrates a novel approach to the evaluation of recurrent echogenic kidneys in consanguineous couple with no significant family history.
Baker, Tieneka M.; Sturm, Erica L.; Turner, Clesson E.; Petersen, Scott M.
Background: Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder that comprises numerous features, including renal cystic disease. Twelve BBS genes have been identified (BBS1–12). Although the exact functions of the BBS proteins are unknown, evidence suggests that they are involved in cilia assembly, maintenance and\\/or function. Renal primary cilia dysfunction can lead to cystic kidney disease. To test whether lacking
Elaine M. Mokrzan; Jacqueline S. Lewis; Kirk Mykytyn
McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and genital anomalies. Bardet-Biedl syndrome is genetically heterogeneous with three cloned genes ( BBS2, BBS4, and MKKS) and at least three other known loci ( BBS1, BBS3, and BBS5). Both McKusick-Kaufman syndrome and Bardet-Biedl syndrome are inherited in an autosomal recessive pattern, and both syndromes are caused by mutations in the MKKS gene. However, mutations in MKKS are found in only 4%-11% of unselected Bardet-Biedl syndrome patients. We hypothesized that an analysis of patients with atypical Bardet-Biedl syndrome and McKusick-Kaufman syndrome (Group I; 15 probands) and patients with Bardet-Biedl syndrome who had linkage results inconsistent with linkage to the other loci (Group II; 12 probands) could increase the MKKS mutation yield. Both mutant alleles were identified in only two families in Group II. Single (heterozygous) sequence variations were found in three Group I families and in two Group II families. Combining these results with previously published data showed that only one mutant allele was detected in nearly half of all patients screened to date, suggesting that unusual mutational mechanisms or patterns of inheritance may be involved. However, sequencing of the BBS2 gene in these patients did not provide any evidence of digenic or "triallelic" inheritance. The frequency of detected mutations in MKKS in Group II patients was 24%, i.e., six times higher than the published rate for unselected BBS patients, suggesting that small-scale linkage analyses may be useful in suitable families. PMID:12107442
Slavotinek, A M; Searby, C; Al-Gazali, L; Hennekam, R C M; Schrander-Stumpel, C; Orcana-Losa, M; Pardo-Reoyo, S; Cantani, A; Kumar, D; Capellini, Q; Neri, G; Zackai, E; Biesecker, L G
McKusick-Kaufman syndrome (MKS) is an autosomal recessive disorder characterized by post-axial polydactyly, congenital heart defects and hydrometrocolpos, a congenital structural abnormality of female genitalia. Mutations in the MKKS gene have also been shown to cause some cases of Bardet-Biedl syndrome (BBS) which is characterized by obesity, pigmentary retinopathy, polydactyly, renal abnormalities and hypogenitalism with secondary features of hypertension and diabetes. Although there is overlap in clinical features between MKS and BBS, MKS patients are not obese and do not develop retinopathy or have learning disabilities. To further explore the pathophysiology of BBS and the related disorder MKS, we have developed an Mkks(-/-) mouse model. This model shows that the absence of Mkks leads to retinal degeneration through apoptosis, failure of spermatozoa flagella formation, elevated blood pressure and obesity. The obesity is associated with hyperphagia and decreased activity. In addition, neurological screening reveals deficits in olfaction and social dominance. The mice do not have polydactyly or vaginal abnormalities. The phenotype of the Mkks(-/-) mice closely resembles the phenotype of other mouse models of BBS (Bbs2(-/-) and Bbs4(-/-)). These observations suggest that the complete absence of MKKS leads to BBS while the MKS phenotype is likely to be due to specific mutations. PMID:15772095
Fath, Melissa A; Mullins, Robert F; Searby, Charles; Nishimura, Darryl Y; Wei, Jun; Rahmouni, Kamal; Davis, Roger E; Tayeh, Marwan K; Andrews, Michael; Yang, Baoli; Sigmund, Curt D; Stone, Edwin M; Sheffield, Val C
Bardet-Biedl Syndrome (BBS) is an oligogenic syndrome whose manifestations include retinal degeneration, renal abnormalities, obesity and polydactylia. Evidence suggests that the main etiopathophysiology of this syndrome is impaired Intraflagellar Transport (IFT). In this study, we study the Bbs4-null mouse and investigate photoreceptor structure and function after loss of this gene. We find that Bbs4-null mice have defects in the transport of phototransduction proteins from the inner segments to the outer segments, before signs of cell death. Additionally, we show defects in synaptic transmission from the photoreceptors to secondary neurons of the visual system, demonstrating multiple functions for BBS4 in photoreceptors.
Abd-El-Barr, Muhammad M.; Sykoudis, Kristen; Andrabi, Sara; Eichers, Erica R.; Pennesi, Mark E.; Tan, Perciliz L.; Wilson, John H.; Katsanis, Nicholas; Lupski, James R.; Wu, Samuel M.
Bardet-Biedl syndrome (BBS) is a ciliopathy with pleiotropic effect that manifests primarily as renal insufficiency, polydactyly, retinal dystrophy and obesity. The current phenotype-genotype correlation is insufficient to predict the likely causative mutation that makes sequencing of all 14 BBS genes an often necessary but highly complicated way to identify the underlying genetic defect in affected patients. In this study, homozygosity
L. Abu Safieh; M. A. Aldahmesh; H. Shamseldin; M. Hashem; R. Shaheen; H. Alkuraya; S. A. F. Al Hazzaa; A. Al-Rajhi; F. S. Alkuraya
Ciliopathies are pleiotropic and genetically heterogeneous disorders caused by defective development and function of the primary cilium. Bardet-Biedl syndrome (BBS) proteins localize to the base of cilia and undergo intraflagellar transport, and the loss of their functions leads to a multisystemic ciliopathy. Here we report the identification of mutations in guanylate cyclases (GCYs) as modifiers of Caenorhabditis elegans bbs endophenotypes.
Calvin A. Mok; Michael P. Healey; Tanvi Shekhar; Michel R. Leroux; Elise Héon; Mei Zhen
Elizabethkingia meningosepticum, a gram-negative opportunistic pathogen may cause life-threatening nosocomial infections especially in newborns and immunosuppressive patients. This bacterium has a peculiar antibiotic resistance profile. It is resistant to most of the antibiotics against gram-negative bacteria and susceptible to antibiotics that are used to treat gram-positive bacteria, such as vancomycin and trimethoprim-sulphamethoxazole (SXT). For this reason appropriate treatment of E.meningosepticum infections are based on the proper identification of bacteria. In this report, a case of catheter-related E.meningosepticum bacteremia in a patient with chronic renal failure due to Bardet-Biedl syndrome, a genetic disorder characterized by multiorgan dysfunction, was presented. A 25-year-old male patient with Bardet-Biedl syndrome was admitted to the emergency room with the complaints of high fever with shivers that started the day before. The patient had a femoral dialysis catheter. Venous blood samples drawn at the time of administration were cultured immediately. Two days later, blood cultures which yielded positive signals were passaged onto blood and MacConkey agar plates and after incubation at 37°C for 16 hours, wet-raised colonies with clear margin, gray colour and large size similar to gram-negative bacterial colonies were detected on blood agar medium. No growth was observed on MacConkey agar plate at the end of five days. The isolate was found positive for KOH, oxidase, catalase, urease, esculine and MOI (Motility Indole Ornithine) tests, whereas it was citrate negative. Gram staining revealed faintly stained thin gram-negative bacilli. The isolate was identified as E.meningosepticum by Vitek® 2 system (bioMérieux, USA), and confirmed by sequence analysis of 16S RNA gene region amplified with PCR method. The antibiotic susceptibility profile of the strain was detected by the Vitek 2 system, while vancomycin susceptibility was investigated by Kirby-Bauer disc diffusion method. The isolate was found resistant to ampicillin/sulbactam, piperacillin/tazobactam, ceftazidime, cefepime, meropenem, imipenem, amikacin, gentamicin, netilmicin, levofloxacin, tetracycline, colistin and rifampicin; intermediate to tigecyclin and tetracyclin; susceptible to cefoperazone/sulbactam, ciprofloxacin, levofloxacin, SXT and vancomycin. One gram vancomycin once every four days was administered to the patient, however on the ninth day of the treatment he developed fever again. Blood cultures obtained again yielded E.meningosepticum. After changing his dialysis catheter and extending the vancomycin treatment to 15 days, the patient was discharged with cure. In conclusion, clinicians should consider E.meningosepticum as a possible causative agent of bacteremia non-responsive to the empirical antibiotic regimens and when gram-negative bacteria are isolated from the blood cultures of such patients with underlying diseases. Accurate and prompt identification of E.meningosepticum will allow immediate administration of the specific antibiotic treatment, thereby decreasing the mortality and morbidity rates. PMID:25052117
Bayrak, Burcu; Fincanci, Muzaffer; Binay, Umut Devrim; Cimen, Cansu; Ozkantar Unlugunes, Gülay Ulkü
Reception and interpretation of environmental stimuli is critical for the survival of all organisms. Here, we show that the ablation of BBS1 and BBS4, two genes mutated in Bardet–Biedl syndrome and that encode proteins that localize near the centrioles of sensory neurons, leads to alterations of s.c. sensory innervation and trafficking of the thermosensory channel TRPV1 and the mechanosensory channel STOML3, with concomitant defects in peripheral thermosensation and mechanosensation. The thermosensory phenotype is recapitulated in Caenorhabditis elegans, because BBS mutants manifest deficient thermosensory responses at both physiological and nociceptive temperatures and defective trafficking of OSM-9, a polymodal sensory channel protein and a functional homolog of TRPV1 or TRPV4. Our findings suggest a hitherto unrecognized, but essential, role for mammalian basal body proteins in the acquisition of mechano- and thermosensory stimuli and highlight potentially clinical features of ciliopathies in humans.
Tan, Perciliz L.; Barr, Travis; Inglis, Peter N.; Mitsuma, Norimasa; Huang, Susan M.; Garcia-Gonzalez, Miguel A.; Bradley, Brian A.; Coforio, Stephanie; Albrecht, Phillip J.; Watnick, Terry; Germino, Gregory G.; Beales, Philip L.; Caterina, Michael J.; Leroux, Michel R.; Rice, Frank L.; Katsanis, Nicholas
Facial recognition is central to the diagnosis of many syndromes, and craniofacial patterns may reflect common etiologies. In the pleiotropic Bardet–Biedl syndrome (BBS), a primary ciliopathy with intraflagellar transport dysfunction, patients have a characteristic facial “gestalt” that dysmorphologists have found difficult to characterize. Here, we use dense surface modeling (DSM) to reveal that BBS patients and mouse mutants have mid-facial defects involving homologous neural crest-derived structures shared by zebrafish morphants. These defects of the craniofacial (CF) skeleton arise from aberrant cranial neural crest cell (NCC) migration. These effects are not confined to the craniofacial region, but vagal-derived NCCs fail to populate the enteric nervous system, culminating in disordered gut motility. Furthermore, morphants display hallmarks of disrupted Sonic Hedgehog (Shh) signaling from which NCCs take positional cues. We propose a model whereby Bbs proteins modulate NCC migration, contributing to craniofacial morphogenesis and development of the enteric nervous system. These migration defects also explain the association of Hirschsprung's disease (HD) with BBS. Moreover, this is a previously undescribed method of using characterization of facial dysmorphology as a basis for investigating the pathomechanism of CF development in dysmorphic syndromes.
Tobin, Jonathan L.; Di Franco, Matt; Eichers, Erica; May-Simera, Helen; Garcia, Monica; Yan, Jiong; Quinlan, Robyn; Justice, Monica J.; Hennekam, Raoul C.; Briscoe, James; Tada, Masazumi; Mayor, Roberto; Burns, Alan J.; Lupski, James R.; Hammond, Peter; Beales, Philip L.
Bardet-Biedl Syndrome (BBS) is a multisystemic disorder diagnosed on the basis of a combination of primary and secondary clinical features that include retinal dystrophy, obesity, polydactyly, cognitive dysfunction, and renal malformations. We report a unique case of BBS in a 13-year old girl of African-American descent who presented with retinitis pigmentosa, obesity, polydactyly, learning disabilities, precocious puberty, hypertension, renal cysts, and Hirschprung disease. Further evaluation revealed a history of precocious puberty, which is antithetical to the common manifestations of BBS, while neuroimaging was suggestive of periventricular leukomalacia and neuro-electrophysiologic studies revealed diffuse cerebral disturbance, which may contribute to her neurological abnormalities. The patient was also diagnosed with hydrometrocolpos, a finding typical of McKusick-Kaufman Syndrome (MKKS) but infrequent in other disorders. This observation, together with recent findings in some mouse models of BBS, raises the question of whether hydrometrocolpos should be considered as an additional diagnostic criterion for BBS to be used in females in parallel to the criterion of hypogonadism in males, thereby improving diagnostic sensitivity. PMID:17558852
Toma, Hassanain S; Tan, Perciliz L; McKusick, Victor A; Katsanis, Nicholas; Adams, N A
To describe the structural changes in the pituitary gland and accompanying pituitary hormonal problems in patients with Bardet-Biedl syndrome (BBS), 11 patients with BBS (median age: 12.8 years, range: 2.5-17.8 years; four boys and seven girls) have been examined for the anomalies of the pituitary region detected by MRI. Accompanying clinical, biochemical, and hormonal profiles concerning the pituitary function of the patients have also been investigated. We have found a high incidence of pituitary anomalies on MRI (63%) and a considerable percentage of hormonal derangements (45%) accompanying these. Among the structural pituitary abnormalities, tumoral changes (n=2), hypoplastic hypophysis, and/or sella (n=4) and rathke cleft cyst (n=2) were detected, whereas disturbances of the pituitary hormones such as growth hormone deficiency, hyperprolactinemia, hypogonadotrophic hypogonadism, and central precocious puberty accompanied the pituitary anomalies in these patients. Pituitary abnormalities and pituitary hormonal dysfunction are common findings and, therefore, should be included in the diagnostic criteria of BBS. PMID:20966747
Guran, Tulay; Ekinci, Gazanfer; Atay, Zeynep; Turan, Serap; Akcay, Teoman; Bereket, Abdullah
Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterized by many features, including obesity and cardiovascular disease. We previously developed knockout mouse models of 3 BBS genes: BBS2, BBS4, and BBS6. To dissect the mechanisms involved in the metabolic disorders associated with BBS, we assessed the development of obesity in these mouse models and found that BBS-null mice were hyperphagic, had low locomotor activity, and had elevated circulating levels of the hormone leptin. The effect of exogenous leptin on body weight and food intake was attenuated in BBS mice, which suggests that leptin resistance may contribute to hyperleptinemia. In other mouse models of obesity, leptin resistance may be selective rather than systemic; although mice became resistant to leptin’s anorectic effects, the ability to increase renal sympathetic nerve activity (SNA) was preserved. Although all 3 of the BBS mouse models were similarly resistant to leptin, the sensitivity of renal SNA to leptin was maintained in Bbs4–/– and Bbs6–/– mice, but not in Bbs2–/– mice. Consequently, Bbs4–/– and Bbs6–/– mice had higher baseline renal SNA and arterial pressure and a greater reduction in arterial pressure in response to ganglionic blockade. Furthermore, we found that BBS mice had a decreased hypothalamic expression of proopiomelanocortin, which suggests that BBS genes play an important role in maintaining leptin sensitivity in proopiomelanocortin neurons.
Rahmouni, Kamal; Fath, Melissa A.; Seo, Seongjin; Thedens, Daniel R.; Berry, Christopher J.; Weiss, Robert; Nishimura, Darryl Y.; Sheffield, Val C.
Primary cilia are conserved organelles that play crucial roles as mechano- and chemosensors, as well as transducing signaling cascades. Consequently, ciliary dysfunction results in a broad range of phenotypes: the ciliopathies. Bardet-Biedl syndrome (BBS), a model ciliopathy, is caused by mutations in 16 known genes. However, the biochemical functions of the BBS proteins are not fully understood. Here we show that the BBS7 protein (localized in the centrosomes, basal bodies and cilia) probably has a nuclear role by virtue of the presence of a biologically confirmed nuclear export signal. Consistent with this observation, we show that BBS7 interacts physically with the polycomb group (PcG) member RNF2 and regulate its protein levels, probably through a proteasome-mediated mechanism. In addition, our data supports a similar role for other BBS proteins. Importantly, the interaction with this PcG member is biologically relevant because loss of BBS proteins leads to the aberrant expression of endogenous RNF2 targets in vivo, including several genes that are crucial for development and for cellular and tissue homeostasis. Our data indicate a hitherto unappreciated, direct role for the BBS proteins in transcriptional regulation and potentially expand the mechanistic spectrum that underpins the development of ciliary phenotypes in patients. PMID:22302990
Gascue, Cecilia; Tan, Perciliz L; Cardenas-Rodriguez, Magdalena; Libisch, Gabriela; Fernandez-Calero, Tamara; Liu, Yangfan P; Astrada, Soledad; Robello, Carlos; Naya, Hugo; Katsanis, Nicholas; Badano, Jose L
Summary Background and Objectives Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features including obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal abnormalities. The molecular genetic profile of BBS is currently being investigated after the recent identification of 14 BBS genes involved in primary cilia-linked disease. This study aims to characterize the renal and cardiovascular presentations and to analyze possible relationships between genotypes and clinical phenotypes. Design, setting, participants & measurements This clinical study was performed in a national cohort of 33 BBS patients, 22 men and 11 women, all aged >16 years (mean age 26.3 years). Results Renal abnormalities, including impairment of renal function and signs of chronic interstitial nephropathy of dysplastic nature, were documented in 82% of the patients. Cardiovascular evaluations revealed that this group of young patients had significant cardiovascular risk factors. Hypertension was found in >30% of the patients and hyperlipidemia in >60%, and almost 50% had other metabolic abnormalities. Overt diabetes was present in only 6%. With regard to genotype-phenotype correlation, patients with a mutation in the BBS6, BBS10, or BBS12 gene (10 of 33 patients) had more severe renal disease. Conclusions Our study results confirm the frequent occurrence of renal involvement in patients with BBS, underscore the high risk of cardiovascular disease in these patients, and provide new information on a possible genotype-phenotype correlation.
Imhoff, Olivier; Marion, Vincent; Stoetzel, Corinne; Durand, Myriam; Holder, Muriel; Sigaudy, Sabine; Sarda, Pierre; Hamel, Christian P.; Brandt, Christian; Dollfus, Helene
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with significant genetic heterogeneity. BBS is linked to mutations in 17 genes, which contain more than 200 coding exons. Currently, BBS is diagnosed by direct DNA sequencing for mutations in these genes, which because of the large genomic screening region is both time-consuming and expensive. In order to develop a practical method for the clinic diagnosis of BBS, we have developed a high-throughput targeted exome sequencing (TES) for genetic diagnosis. Five typical BBS patients were recruited and screened for mutations in a total of 144 known genes responsible for inherited retinal diseases, a hallmark symptom of BBS. The genomic DNA of these patients and their families were subjected to high-throughput DNA re-sequencing. Deep bioinformatics analysis was carried out to filter the massive sequencing data, which were further confirmed through co-segregation analysis. TES successfully revealed mutations in BBS genes in each patient and family member. Six pathological mutations, including five novel mutations, were revealed in the genes BBS2, MKKS, ARL6, MKS1. This study represents the first report of targeted exome sequencing in BBS patients and demonstrates that high-throughput TES is an accurate and rapid method for the genetic diagnosis of BBS.
Huang, Na; Wu, Kun-Chao; Huang, Xiu-Feng; Huang, Fang; Tong, Yi; Pang, Chi-Pui; Qu, Jia; Jin, Zi-Bing
Bardet-Biedl syndrome (BBS, OMIM 209900) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation and hypogenitalism. Individuals with BBS are also at increased risk for diabetes mellitus, hypertension and congenital heart disease. What was once thought to be a homogeneous autosomal recessive disorder is now known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13 p12 (BBS3), 15q22.3 q23 (BBS4), 2q31 (BBS5) and 20p12 (BBS6). There has been considerable interest in identifying the genes that underlie BBS, because some components of the phenotype are common. Cases of BBS mapping ro BBS6 are caused by mutations in MKKS; mutations in this gene also cause McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly and congenital heart defects). In addition, we recently used positional cloning to identify the genes underlying BBS2 (ref. 16) and BBS4 (ref. 17). The BBS6 protein has similarity to a Thermoplasma acidophilum chaperonin, whereas BBS2 and BBS4 have no significant similarity to chaperonins. It has recently been suggested that three mutated alleles (two at one locus, and a third at a second locus) may be required for manifestation of BBS (triallelic inheritance). Here we report the identification of the gene BBS1 and show that a missense mutation of this gene is a frequent cause of BBS. In addition, we provide data showing that this common mutation is not involved in triallelic inheritance. PMID:12118255
Mykytyn, Kirk; Nishimura, Darryl Y; Searby, Charles C; Shastri, Mythreyi; Yen, Hsan-jan; Beck, John S; Braun, Terry; Streb, Luan M; Cornier, Alberto S; Cox, Gerald F; Fulton, Anne B; Carmi, Rivka; Lüleci, Güven; Chandrasekharappa, Settara C; Collins, Francis S; Jacobson, Samuel G; Heckenlively, John R; Weleber, Richard G; Stone, Edwin M; Sheffield, Val C
Forty-two patients with a clinical diagnosis of Bardet-Biedl syndrome ages 2-61 years were given a neuropsychological test battery to evaluate cognitive, sensory, and behavioral functioning. These tests included the Wechsler scales of intelligence, Rey Auditory Verbal Learning Test, Boston Naming Test, D-KEFS Verbal Fluency Test, D-KEFS Color-Word Interference Test, D-KEFS Sorting Test, Wide Range Achievement Test: Math and Reading Subtests, Purdue Pegboard, The University of Pennsylvania Smell Identification Test, Social Communication Questionnaire, Social Responsiveness Scale, and Behavior Assessment System for Children, Second Edition, Parent Rating Scale. On the age appropriate Wechsler scale, the mean Verbal Comprehension was 81 (n = 36), Working Memory was 81 (n = 36), Perceptual Reasoning was 78 (n = 24) and Full Scale IQ was 75 (n = 26). Memory for a word list (Rey Auditory Verbal Learning Test) was in the average range with a mean of 89 (n = 19). Fine motor speed was slow on the Purdue with mean scores 3-4 standard deviations below norms. All subjects were microsmic on the University of Pennsylvania Smell Identification Test. Of these 42 patients, only 6 were able to complete all auditory and visual tests; 52% were unable to complete the visual tests due to impaired vision. A wide range of behavioral issues were endorsed on questionnaires given to parents. Most had social skill deficits but no pattern of either externalizing or internalizing problems. We identify a characteristic neuro-behavioral profile in our cohort comprised of reduced IQ, impaired fine-motor function, and decreased olfaction. PMID:24194441
Brinckman, Danielle D; Keppler-Noreuil, Kim M; Blumhorst, Catherine; Biesecker, Leslie G; Sapp, Julie C; Johnston, Jennifer J; Wiggs, Edythe A
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous inherited human disorder displaying a pleotropic phenotype. Many of the symptoms characterized in the human disease have been reproduced in animal models carrying deletions or knock-in mutations of genes causal for the disorder. Thinning of the cerebral cortex, enlargement of the lateral and third ventricles, and structural changes in cilia are among the pathologies documented in these animal models. Ciliopathy is of particular interest in light of recent studies that have implicated primary neuronal cilia (PNC) in neuronal signal transduction. In the present investigation, we tested the hypothesis that areas of the brain responsible for learning and memory formation would differentially exhibit PNC abnormalities in animals carrying a deletion of the Bbs4 gene (Bbs4-/-). Immunohistochemical localization of adenylyl cyclase-III (ACIII), a marker restricted to PNC, revealed dramatic alterations in PNC morphology and a statistically significant reduction in number of immunopositive cilia in the hippocampus and amygdala of Bbs4-/- mice compared to wild type (WT) littermates. Western blot analysis confirmed the decrease of ACIII levels in the hippocampus and amygdala of Bbs4-/- mice, and electron microscopy demonstrated pathological alterations of PNC in the hippocampus and amygdala. Importantly, no neuronal loss was found within the subregions of amygdala and hippocampus sampled in Bbs4-/- mice and there were no statistically significant alterations of ACIII immunopositive cilia in other areas of the brain not known to contribute to the BBS phenotype. Considered with data documenting a role of cilia in signal transduction these findings support the conclusion that alterations in cilia structure or neurochemical phenotypes may contribute to the cognitive deficits observed in the Bbs4-/- mouse mode. PMID:24695551
Agassandian, Khristofor; Patel, Milan; Agassandian, Marianna; Steren, Karina E; Rahmouni, Kamal; Sheffield, Val C; Card, J Patrick
Primary cilia are cellular appendages important for signal transduction and sensing the environment. Bardet–Biedl syndrome proteins form a complex that is important for several cytoskeleton-related processes such as ciliogenesis, cell migration and division. However, the mechanisms by which BBS proteins may regulate the cytoskeleton remain unclear. We discovered that Bbs4- and Bbs6-deficient renal medullary cells display a characteristic behaviour comprising poor migration, adhesion and division with an inability to form lamellipodial and filopodial extensions. Moreover, fewer mutant cells were ciliated [48% ± 6 for wild-type (WT) cells versus 23% ± 7 for Bbs4 null cells; P < 0.0001] and their cilia were shorter (2.55 ?m ± 0.41 for WT cells versus 2.16 ?m ± 0.23 for Bbs4 null cells; P < 0.0001). While the microtubular cytoskeleton and cortical actin were intact, actin stress fibre formation was severely disrupted, forming abnormal apical stress fibre aggregates. Furthermore, we observed over-abundant focal adhesions (FAs) in Bbs4-, Bbs6- and Bbs8-deficient cells. In view of these findings and the role of RhoA in regulation of actin filament polymerization, we showed that RhoA-GTP levels were highly upregulated in the absence of Bbs proteins. Upon treatment of Bbs4-deficient cells with chemical inhibitors of RhoA, we were able to restore the cilia length and number as well as the integrity of the actin cytoskeleton. Together these findings indicate that Bbs proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA levels.
Hernandez-Hernandez, Victor; Pravincumar, Priyanka; Diaz-Font, Anna; May-Simera, Helen; Jenkins, Dagan; Knight, Martin; Beales, Philip L.
Homozygosity for a recurrent 290 kb deletion of NPHP1 is the most frequent cause of isolated nephronophthisis (NPHP) in humans. A deletion of the same genomic interval has also been detected in individuals with Joubert syndrome (JBTS), and in the mouse, Nphp1 interacts genetically with Ahi1, a known JBTS locus. Given these observations, we investigated the contribution of NPHP1 in Bardet-Biedl syndrome (BBS), a ciliopathy of intermediate severity. By using a combination of array-comparative genomic hybridization, TaqMan copy number assays, and sequencing, we studied 200 families affected by BBS. We report a homozygous NPHP1 deletion CNV in a family with classical BBS that is transmitted with autosomal-recessive inheritance. Further, we identified heterozygous NPHP1 deletions in two more unrelated persons with BBS who bear primary mutations at another BBS locus. In parallel, we identified five families harboring an SNV in NPHP1 resulting in a conserved missense change, c.14G>T (p.Arg5Leu), that is enriched in our Hispanic pedigrees; in each case, affected individuals carried additional bona fide pathogenic alleles in another BBS gene. In vivo functional modeling in zebrafish embryos demonstrated that c.14G>T is a loss-of-function variant, and suppression of nphp1 in concert with each of the primary BBS loci found in our NPHP1-positive pedigrees exacerbated the severity of the phenotype. These results suggest that NPHP1 mutations are probably rare primary causes of BBS that contribute to the mutational burden of the disorder. PMID:24746959
Lindstrand, Anna; Davis, Erica E; Carvalho, Claudia M B; Pehlivan, Davut; Willer, Jason R; Tsai, I-Chun; Ramanathan, Subhadra; Zuppan, Craig; Sabo, Aniko; Muzny, Donna; Gibbs, Richard; Liu, Pengfei; Lewis, Richard A; Banin, Eyal; Lupski, James R; Clark, Robin; Katsanis, Nicholas
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBS genes have been identified and the majority of them are essential for the function of BBSome, a protein complex involved in transporting membrane proteins into and from cilia. Yet defects in the identified genes cannot account for all the BBS cases. The genetic heterogeneity of this disease poses significant challenge to the identification of additional BBS genes. In this study, we coupled human genetics with functional validation in zebrafish and identified IFT27 as a novel BBS gene (BBS19). This is the first time an intraflagellar transport (IFT) gene is implicated in the pathogenesis of BBS, highlighting the genetic complexity of this disease. PMID:24488770
Aldahmesh, Mohammed A; Li, Yuanyuan; Alhashem, Amal; Anazi, Shams; Alkuraya, Hisham; Hashem, Mais; Awaji, Ali A; Sogaty, Sameera; Alkharashi, Abdullah; Alzahrani, Saeed; Al Hazzaa, Selwa A; Xiong, Yong; Kong, Shanshan; Sun, Zhaoxia; Alkuraya, Fowzan S
Ciliopathies, a class of rare genetic disorders, present often with retinal degeneration caused by protein transport defects between the inner segment and the outer segment of the photoreceptors. Bardet-Biedl syndrome is one such ciliopathy, genetically heterogeneous with 17 BBS genes identified to date, presenting early onset retinitis pigmentosa. By investigating BBS12-deprived retinal explants and the Bbs12(-/-) murine model, we show that the impaired intraciliary transport results in protein retention in the endoplasmic reticulum. The protein overload activates a proapoptotic unfolded protein response leading to a specific Caspase12-mediated death of the photoreceptors. Having identified a therapeutic window in the early postnatal retinal development and through optimized pharmacological modulation of the unfolded protein response, combining three specific compounds, namely valproic acid, guanabenz, and a specific Caspase12 inhibitor, achieved efficient photoreceptor protection, thereby maintaining light detection ability in vivo. PMID:22869374
Mockel, Anais; Obringer, Cathy; Hakvoort, Theodorus B M; Seeliger, Mathias; Lamers, Wouter H; Stoetzel, Corinne; Dollfus, Hélčne; Marion, Vincent
The present invention relates to the identification of a gene, now designated negevin (ngvn), that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypertension, mental r...
D. Nishimura E. Stone V. Sheffield
The extensive genetic heterogeneity of Bardet–Biedl syndrome (BBS) is documented by the identification, by classical linkage analysis complemented recently by comparative genomic approaches, of nine genes (BBS1–9) that account cumulatively for about 50% of patients. The BBS genes appear implicated in cilia and basal body assembly or function. In order to find new BBS genes, we performed SNP homozygosity mapping
Virginie Laurier; Corinne Stoetzel; Jean Muller; Christelle Thibault; Sandra Corbani; Nadine Jalkh; Nabiha Salem; Eliane Chouery; Olivier Poch; Serge Licaire; Jean-Marc Danse; Patricia Amati-Bonneau; Dominique Bonneau; André Mégarbané; Jean-Louis Mandel; Hélčne Dollfus
Background Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research. Methods EURO-WABB is an international multicenter large-scale observational study capturing longitudinal clinical and outcome data for patients with WABB diagnoses. Three hundred participants will be recruited over 3 years from different sites throughout Europe. Comprehensive clinical, genetic and patient experience data will be collated into an anonymized disease registry. Data collection will be web-based, and forms part of the project’s Virtual Research and Information Environment (VRIE). Participants who haven’t undergone genetic diagnostic testing for their condition will be able to do so via the project. Conclusions The registry data will be used to increase the understanding of the natural history of WABB diseases, to serve as an evidence base for clinical management, and to aid the identification of opportunities for intervention to stop or delay the progress of the disease. The detailed clinical characterisation will allow inclusion of patients into studies of novel treatment interventions, including targeted interventions in small scale open label studies; and enrolment into multi-national clinical trials. The registry will also support wider access to genetic testing, and encourage international collaborations for patient benefit.
Bardet–Biedl syndrome (BBS) is a rare pediatric ciliopathy characterized by marked clinical variability and extensive genetic heterogeneity. Typical diagnosis of BBS is secured at a median of 9 years of age, and sometimes well into adolescence. Here, we report a patient in whom prenatal detection of increased nuchal fold, enlarged echogenic kidneys, and polydactyly prompted us to screen the most commonly mutated genes in BBS and the phenotypically and genetically overlapping ciliopathy, Meckel–Gruber syndrome (MKS). We identified the common Met390Arg mutation in BBS1 in compound heterozygosity with a novel intronic variant of unknown significance (VUS). Testing of mRNA harvested from primary foreskin fibroblasts obtained shortly after birth revealed the VUS to induce a cryptic splice site, which in turn led to a premature termination and mRNA degradation. To our knowledge, this is the earliest diagnosis of BBS in the absence of other affected individuals in the family, and exemplifies how combining clinical assessment with genetic and timely assays of variant pathogenicity can inform clinical diagnosis and assist with patient management in the prenatal and neonatal setting.
Ashkinadze, E.; Rosen, T.; Brooks, SS.; Katsanis, N.; Davis, EE.
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, retinal degeneration, polydactyly, hypogenitalism and renal defects. Recent findings have associated the etiology of the disease with cilia, and BBS proteins have been implicated in trafficking various ciliary cargo proteins. To date, 17 different genes have been reported for BBS among which BBS1 is the most common cause of the disease followed by BBS10, and BBS4. A murine model of Bbs4 is known to phenocopy most of the human BBS phenotypes, and it is being used as a BBS disease model. To better understand the in vivo localization, cellular function, and interaction of BBS4 with other proteins, we generated a transgenic BBS4 mouse expressing the human BBS4 gene under control of the beta actin promoter. The transgene is expressed in various tissues including brain, eye, testis, heart, kidney, and adipose tissue. These mice were further bred to express the transgene in Bbs4 null mice, and their phenotype was characterized. Here we report that despite tissue specific variable expression of the transgene, human BBS4 was able to complement the deficiency of Bbs4 and rescue all the BBS phenotypes in the Bbs4 null mice. These results provide an encouraging prospective for gene therapy for BBS related phenotypes and potentially for other ciliopathies.
Chamling, Xitiz; Seo, Seongjin; Bugge, Kevin; Searby, Charles; Guo, Deng F.; Drack, Arlene V.; Rahmouni, Kamal; Sheffield, Val C.
Purpose To determine the genetic cause of Bardet-Biedl syndrome (BBS) in two consanguineous Pakistani families. Methods Clinical characterization of the affected individuals in both families was performed with ophthalmic examination, electroretinography, electrocardiography, and liver and renal profiling. Seventeen genes are known to be associated with BBS, so exome sequencing was preferred over candidate gene sequencing. One affected individual from both families was selected for exome sequencing. Segregation of the identified variants was confirmed with Sanger sequencing. Results Retinitis pigmentosa, obesity, and learning difficulties were present in the affected individuals in both families. In family A, a sixth finger (polydactyly) of the proband’s sister was removed by a surgical operation leaving a scar on the little finger. Polydactyly was also present in both affected individuals from family B. All diagnostic symptoms were characteristic of BBS in both families. In both affected individuals from family A, exome sequencing identified a novel homozygous mutation (c.47+1G>T) in BBS1 that inactivates the splice donor site at the end of exon 1. In family B, a previously reported mutation, c.442G>A; p.(Asp148Asn), was detected. Conclusions Exome sequencing is an efficient and cost-effective technique for identifying mutations in genetically heterogeneous diseases. In addition, intrafamilial phenotypic variability in family A argues for the modifying effect of other still unknown modifier alleles.
Ajmal, Muhammad; Khan, Muhammad Imran; Neveling, Kornelia; Tayyab, Ali; Jaffar, Sulman; Sadeque, Ahmed; Ayub, Humaira; Abbasi, Nasir Mahmood; Riaz, Moeen; Micheal, Shazia; Gilissen, Christian; Ali, Syeda Hafiza Benish; Azam, Maleeha; Collin, Rob W. J.; Cremers, Frans P. M.
The extensive genetic heterogeneity of Bardet-Biedl syndrome (BBS) is documented by the identification, by classical linkage analysis complemented recently by comparative genomic approaches, of nine genes (BBS1-9) that account cumulatively for about 50% of patients. The BBS genes appear implicated in cilia and basal body assembly or function. In order to find new BBS genes, we performed SNP homozygosity mapping analysis in an extended consanguineous family living in a small Lebanese village. This uncovered an unexpectedly complex pattern of mutations, and led us to identify a novel BBS gene (BBS10). In one sibship of the pedigree, a BBS2 homozygous mutation was identified, while in three other sibships, a homozygous missense mutation was identified in a gene encoding a vertebrate-specific chaperonine-like protein (BBS10). The single patient in the last sibship was a compound heterozygote for the above BBS10 mutation and another one in the same gene. Although triallelism (three deleterious alleles in the same patient) has been described in some BBS families, we have to date no evidence that this is the case in the present family. The analysis of this family challenged linkage analysis based on the expectation of a single locus and mutation. The very high informativeness of SNP arrays was instrumental in elucidating this case, which illustrates possible pitfalls of homozygosity mapping in extended families, and that can be explained by the rather high prevalence of heterozygous carriers of BBS mutations (estimated at one in 50 in Europeans). PMID:16823392
Laurier, Virginie; Stoetzel, Corinne; Muller, Jean; Thibault, Christelle; Corbani, Sandra; Jalkh, Nadine; Salem, Nabiha; Chouery, Eliane; Poch, Olivier; Licaire, Serge; Danse, Jean-Marc; Amati-Bonneau, Patricia; Bonneau, Dominique; Mégarbané, André; Mandel, Jean-Louis; Dollfus, Hélčne
Bardet–Biedl syndrome (BBS) is a pleiotropic, heterogeneous human disease whose etiology lies primarily in dysfunctional basal bodies and/or cilia. Both BBS patients and several BBS mouse models exhibit impaired olfactory function. To explore the nature of olfactory defects in BBS, a genetic ablation of the mouse Bbs8 gene that incorporates a fluorescent reporter protein was created. The endogenous BBS8 protein and reporter are particularly abundant in olfactory sensory neurons (OSNs), and specific BBS8 antibodies reveal staining in the dendritic knob in a shell-like structure that surrounds the basal bodies. Bbs8-null mice have reduced olfactory responses to a number of odorants, and immunohistochemical analyses reveal a near-complete loss of cilia from OSNs and mislocalization of proteins normally enriched in cilia. To visualize altered protein localization in OSNs, we generated a SLP3eGFP knock-in mouse and imaged the apical epithelium, including dendritic knobs and proximal cilia, in ex vivo tissue preparations. Additionally, protein reagents that reflect the characteristic neuronal activity of each OSN revealed altered activity in Bbs8-null cells. In addition to previously known defects at the ciliary border, we also observed aberrant targeting of OSN axons to the olfactory bulb; axons expressing the same receptor display reduced fasciculation and project to multiple targets in the olfactory bulb. We suggest that loss of BBS8 leads to a dramatic and variable reduction in cilia, the essential signaling platform for olfaction, which alters the uniformity of responses in populations of OSNs expressing the same receptor, thereby contributing to the observed axon-targeting defects.
Tadenev, Abigail L. D.; Kulaga, Heather M.; May-Simera, Helen L.; Kelley, Matthew W.; Katsanis, Nicholas; Reed, Randall R.
Summary Bardet-Biedl Syndrome (BBS) is a pleiotropic and genetically heterozygous disorder caused independently by numerous genes (BBS1–BBS17). Seven highly conserved BBS proteins (BBS1, 2, 4, 5, 7, 8 and 9) form a complex known as the BBSome, which functions in ciliary membrane biogenesis. BBS7 is both a unique subunit of the BBSome and displays direct physical interaction with a second BBS complex, the BBS chaperonin complex. To examine the in vivo function of BBS7, we generated Bbs7 knockout mice. Bbs7?/? mice show similar phenotypes to other BBS gene mutant mice including retinal degeneration, obesity, ventriculomegaly and male infertility characterized by abnormal spermatozoa flagellar axonemes. Using tissues from Bbs7?/? mice, we show that BBS7 is required for BBSome formation, and that BBS7 and BBS2 depend on each other for protein stability. Although the BBSome serves as a coat complex for ciliary membrane proteins, BBS7 is not required for the localization of ciliary membrane proteins polycystin-1, polycystin-2, or bitter taste receptors, but absence of BBS7 leads to abnormal accumulation of the dopamine D1 receptor to the ciliary membrane, indicating that BBS7 is involved in specific membrane protein localization to cilia.
Zhang, Qihong; Nishimura, Darryl; Vogel, Tim; Shao, Jianqiang; Swiderski, Ruth; Yin, Terry; Searby, Charles; Carter, Calvin S.; Kim, GunHee; Bugge, Kevin; Stone, Edwin M.; Sheffield, Val C.
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS loci have been mapped, and seven genes have been identified. BBS3 was previously mapped to chromosome 3 by linkage analysis in a large Israeli Bedouin kindred. The rarity of other families mapping to the BBS3 locus has made it difficult to narrow the disease interval sufficiently to identify the gene by positional cloning. We hypothesized that the genomes of model organisms that contained the orthologues to known BBS genes would also likely contain a BBS3 orthologue. Therefore, comparative genomic analysis was performed to prioritize BBS candidate genes for mutation screening. Known BBS proteins were compared with the translated genomes of model organisms to identify a subset of organisms in which these proteins were conserved. By including multiple organisms that have relatively small genome sizes in the analysis, the number of candidate genes was reduced, and a few genes mapping to the BBS3 interval emerged as the best candidates for this disorder. One of these genes, ADP-ribosylation factor-like 6 (ARL6), contains a homozygous stop mutation that segregates completely with the disease in the Bedouin kindred originally used to map the BBS3 locus, identifying this gene as the BBS3 gene. These data illustrate the power of comparative genomic analysis for the study of human disease and identifies a novel BBS gene.
Chiang, Annie P.; Nishimura, Darryl; Searby, Charles; Elbedour, Khalil; Carmi, Rivka; Ferguson, Amanda L.; Secrist, Jenifer; Braun, Terry; Casavant, Thomas; Stone, Edwin M.; Sheffield, Val C.
... signaling pathways. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and ... during development and lead to abnormalities of sensory perception. Researchers believe that defective cilia are responsible for ...
A 24-year-old primigravid women with no remarkable history and antenatal follow-up was referred to our clinic with the diagnosis of fetal megacystis. Ultrasound examination revealed an oval shaped hypoechoic cystic mass measuring 80×55×50 mm occupying the fetal pelvis in a female fetus. The fluid inside the cyst was heterogeneous giving a two level appearance. A normal looking urinary bladder was visualised separately which was located in normal position. Further sonographic evaluation revealed postaxial polydactyly in both hands. The fetal echocardiography and amniotic fluid index was normal. An obstetrical MRI was done for the suspicion of a hydrometrocolpos and confirmed the diagnosis. The infant was delivered by vaginal route at term. Physical examination of neonate confirmed postaxial polydactyly in hands. After birth a cystoscopy performed by the paediatric surgeons revealed a urogenital sinus and vaginal atresia. A catheter was placed in the uterine cavity to drain it. Nine months later the baby went on a 'vaginal pull through' operation to reconstruct the vagina and the urethra. The baby is now 3 years old and doing well. PMID:22699466
Parlakgumus, Ayse; Yalcinkaya, Cem; Kilicdag, Esra
A 24-year-old primigravid women with no remarkable history and antenatal follow-up was referred to our clinic with the diagnosis of fetal megacystis. Ultrasound examination revealed an oval shaped hypoechoic cystic mass measuring 80×55×50 mm occupying the fetal pelvis in a female fetus. The fluid inside the cyst was heterogeneous giving a two level appearance. A normal looking urinary bladder was visualised separately which was located in normal position. Further sonographic evaluation revealed postaxial polydactyly in both hands. The fetal echocardiography and amniotic fluid index was normal. An obstetrical MRI was done for the suspicion of a hydrometrocolpos and confirmed the diagnosis. The infant was delivered by vaginal route at term. Physical examination of neonate confirmed postaxial polydactyly in hands. After birth a cystoscopy performed by the paediatric surgeons revealed a urogenital sinus and vaginal atresia. A catheter was placed in the uterine cavity to drain it. Nine months later the baby went on a ‘vaginal pull through’ operation to reconstruct the vagina and the urethra. The baby is now 3 years old and doing well.
Parlakgumus, Ayse; Yalcinkaya, Cem; K?l?cdag, Esra
McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS. PMID:21829414
Son, Se-Hyung; Kim, Yoon Joo; Kim, Eun Sun; Kim, Ee-Kyung; Kim, Han-Suk; Kim, Beyong Il; Choi, Jung-Hwan
McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.
Son, Se-Hyung; Kim, Yoon Joo; Kim, Eun Sun; Kim, Ee-Kyung; Kim, Han-Suk; Kim, Beyong Il
Hirschsprung's disease (HSCR) is a fairly frequent cause of intestinal obstruction in children. It is characterized as a sex-linked heterogonous disorder with variable severity and incomplete penetrance giving rise to a variable pattern of inheritance. Although Hirschsprung's disease occurs as an isolated phenotype in at least 70% of cases, it is not infrequently associated with a number of congenital abnormalities and associated syndromes, demonstrating a spectrum of congenital anomalies. Certain of these syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction, in its pathogenesis. These associations with HSCR include Down's syndrome and other chromosomal anomalies, Waardenburg syndrome and other Dominant sensorineural deafness, the Congenital Central Hypoventilation and Mowat-Wilson and other brain-related syndromes, as well as the MEN2 and other tumour associations. A number of other autosomal recessive syndromes include the Shah-Waardenburg, the Bardet-Biedl and Cartilage-hair hypoplasia, Goldberg-Shprintzen syndromes and other syndromes related to cholesterol and fat metabolism among others. The genetics of Hirschsprung's disease are highly complex with the majority of known genetic sites relating to the main susceptibility pathways (RET an EDNRB). Non-syndromic non-familial, short-segment HSCR appears to represent a non-Mendelian condition with variable expression and sex-dependent penetrance. Syndromic and familial forms, on the other hand, have complex patterns of inheritance and being reported as autosomal dominant, recessive and polygenic patterns of inheritance. The phenotypic variability and incomplete penetrance observed in Hirschsprung's disease could also be explained by the involvement of modifier genes, especially in its syndromic forms. In this review, we look at the chromosomal and Mendelian associations and their underlying signalling pathways, to obtain a better understanding of the pathogenetic mechanisms involved in developing aganglionosis of the distal bowel. PMID:23001136
Moore, S W
The identification of mutations in genes that cause human diseases has largely been accomplished through the use of positional cloning, which relies on linkage mapping. In studies of rare diseases, the resolution of linkage mapping is limited by the number of available meioses and informative marker density. One recent advance is the development of high-density SNP microarrays for genotyping. The
Annie P. Chiang; John S. Beck; Hsan-Jan Yen; Marwan K. Tayeh; Todd E. Scheetz; Ruth E. Swiderski; Darryl Y. Nishimura; Terry A. Braun; Kwang-Youn A. Kim; Jian Huang; Khalil Elbedour; Rivka Carmi; Diane C. Slusarski; Thomas L. Casavant; Edwin M. Stone; Val C. Sheffield
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (DNAH5) or intermediate (DNAI1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for PCD is available for the most common mutations. The respiratory manifestations of PCD (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis and chronic otitis media) reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of PCD patients have laterality defects (including situs inversus totalis and, less commonly, heterotaxy and congenital heart disease), reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most PCD patients have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with PCD.
Leigh, Margaret W.; Pittman, Jessica E.; Carson, Johnny L.; Ferkol, Thomas W.; Dell, Sharon D.; Davis, Stephanie D.; Knowles, Michael R.; Zariwala, Maimoona A.
The human Usher syndrome (USH) is the most frequent cause of combined hereditary deaf-blindness. USH is genetically and clinically heterogeneous: 15 chromosomal loci assigned to 3 clinical types, USH1-3. All USH1 and 2 proteins are organized into protein networks by the scaffold proteins harmonin (USH1C), whirlin (USH2D) and SANS (USH1G). This has contributed essentially to our current understanding of the USH protein function in the eye and the ear and explains why defects in proteins of different families cause very similar phenotypes. Ongoing in depth analyses of USH protein networks in the eye indicated cytoskeletal functions as well as roles in molecular transport processes and ciliary cargo delivery in photoreceptor cells. The analysis of USH protein networks revealed molecular links of USH to other ciliopathies, including non-syndromic inner ear defects and isolated retinal dystrophies but also to kidney diseases and syndromes like the Bardet-Biedl syndrome. These findings provide emerging evidence that USH is a ciliopathy molecularly related to other ciliopathies, which opens an avenue for common therapy strategies to treat these diseases. PMID:24664740
Sorusch, Nasrin; Wunderlich, Kirsten; Bauss, Katharina; Nagel-Wolfrum, Kerstin; Wolfrum, Uwe
Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6). Although BBS is rare in the general population (<1/100,000), there is considerable interest in identifying the genes causing BBS because components of the phenotype, such as obesity and diabetes, are common. We and others have demonstrated that BBS6 is caused by mutations in the gene MKKS (refs. 12,13), mutation of which also causes McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly, and congenital heart defects). MKKS has sequence homology to the alpha subunit of a prokaryotic chaperonin in the thermosome Thermoplasma acidophilum. We recently identified a novel gene that causes BBS2. The BBS2 protein has no significant similarity to other chaperonins or known proteins. Here we report the positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4. PMID:11381270
Mykytyn, K; Braun, T; Carmi, R; Haider, N B; Searby, C C; Shastri, M; Beck, G; Wright, A F; Iannaccone, A; Elbedour, K; Riise, R; Baldi, A; Raas-Rothschild, A; Gorman, S W; Duhl, D M; Jacobson, S G; Casavant, T; Stone, E M; Sheffield, V C
We report a 19-year-old, non-Amish Caucasian female patient with primary amenorrhea caused by complete lack of Müllerian fusion with vaginal agenesis or Müllerian aplasia (MA), postaxial polydactyly (PAP), and tetralogy of Fallot. The genital tract anomaly of MA with and without renal or skeletal anomalies comprises Mayer-Rokitansky-Kuster-Hauser syndrome, which has not been reported with tetralogy of Fallot. The phenotypic triad of anomalies most closely resembled McKusick-Kaufman syndrome (MKS; OMIM 236700), a rare multiple congenital anomaly syndrome comprised of hydrometrocolpos (HMC), PAP, and congenital heart malformation that is inherited in an autosomal recessive pattern. While upper reproductive tract anomalies have not been reported with MKS, they have been reported with Bardet-Biedl syndrome (BBS), a syndrome that significantly overlaps with MKS. Both MKS and BBS can be caused by mutations in the MKKS or BBS6 gene on chromosome 20p12 and BBS is also associated with mutations in other genes (BBS1, BBS2, BBS4, and BBS7). To address this heterogenity, we sequenced the causative genes in MKS and BBS but no mutations in these five genes were identified. Fluorescence in situ hybridization (FISH) excluded large deletions of chromosome 20p12 and microsatellite marker studies confirmed biparental inheritance for all of the known BBS loci. The dual midline fusion defects of tetralogy of Fallot and MA suggests that either this patient has a unique syndrome with a distinct genetic etiology or that she has a genetically heterogeneous or variant form of MKS. PMID:15266619
Slavotinek, Anne M; Dutra, Amalia; Kpodzo, Dzifa; Pak, Evgenia; Nakane, Takaya; Turner, Joyce; Whiteford, Margo; Biesecker, Leslie G; Stratton, Pamela
A case of a 56-years old male with rheumatoid arthritis and unclear tumoral radiological changes in the lungs was described. Since noninvasive diagnostic procedures failed to explain nature of the pulmonary changes, an open pulmonary biopsy was performed. Pathological examination revealed presence of rheumatoid nodules and pneumoconiosis, typical for Caplan's syndrome. In the past, the patient had been working in foundry industry for 16 years and he had been exposed to silica and iron dust. Articular symptoms were revealed prior to finding the lung changes even dust exposure had occurred many years earlier. In spite of the fact that rheumatoid arthritis is a relatively common disease and pneumoconiosis is also not rare entity, the coexistence of both conditions i.e. Caplan's syndrome has been rarely diagnosed and described. PMID:16808317
Zielonka, Tadeusz M; Bare?a, Dagmara; Zukowska, Ma?gorzata; Langfort, Renata; Rudzi?ski, Piotr; Chazan, Ryszarda
The goal of this case report is not only to describe a case of congenital rubella syndrome that is currently rarely seen in the Czech Republic but also to emphasize the importance of vaccination against rubella. Rubella usually occurs in susceptible children as a mild illness with rush. Its association with abortions and severe congenital disabilities was noticed in the 1940s. Since that time, efforts have been made to develop a vaccine against rubella to prevent congenital rubella syndrome. PMID:23301624
Tkadlecová, Hana; Šviráková, Dana; Macko, Jozef; Bartoníková, Nataša; Beneš, ?estmír; Zelená, Hana; Pomiklová, Markéta; Vidli?ková, Ivana; Ková?iková, Zaneta
We report two unrelated cases of Costello syndrome, presenting with poor postnatal growth, mild mental retardation, poor feeding, curly hair, coarse characteristic face, loose skin, hypotonia, and cardiac involvement. Nasal papilloma and acanthosis nigricans were the most characteristic features of this syndrome. Both cases had atrial fibrilation from infancy to early childhood. One patient had hypertonia in the lower extremities and pes equinovarus, while the other had hypotonia and pes planovalgus. PMID:12607291
Masuyama, Tatsuo; Matsuo, Muneaki; Kuno, Tateo; Kitsuki, Kyoko; Kan, Yuka; Ishii, Kiyohisa; Ohtani, Yoshinobu
The combined occurrence of diabetes mellitus (DM) and retinitis pigmentosa (RP) is rare. It has been reported in the form of four different syndromes that are inherited in an autosomal recessive fashion. We describe two cases of DM and RP occurring together. The first case was a 35-year-old male who presented with insulin-treated diabetes, obesity, hypertension, polydactyly, normal cognitive functions, an ataxic gait, blindness secondary to RP, dyslipidemia, impaired renal function, and multiple renal cysts. He was diagnosed clinically as having Bardet-Biedl syndrome. The second case was a 34-year-old male who presented with insulin-resistant diabetes, hypertension, blindness secondary to RP, deafness, normal cognitive functions, primary infertility, renal, and liver impairment. He was diagnosed clinically as having Alström syndrome. Because of overlapping clinical manifestations and the cost and time involved in genetic studies, clinical criteria can be used for diagnosis and as a guide for genetic mapping in these patients.
Al-Adsani, Afaf; Gader, Fadl Abdel
Acute myocardial infarction occurring during the course of an allergic reaction constitutes the Kounis syndrome. This syndrome is caused by inflammatory mediators released mainly from activated mast cells and the interrelated via bidirectional stimuli macrophages and T-lymphocytes. Since activated mast cells abound at the areas of plaque erosion or rupture in patients suffering from acute myocardial infarction a common pathway between allergic and non allergic coronary events seems to exist. Two cases of this syndrome are described, the first following nicorette transdermal application and subsequent finger pricking by fish bone and the second after ciprofloxacin administration. PMID:19203807
Almpanis, George; Siahos, Simos; Karogiannis, Nicholas C; Mazarakis, Andreas; Niarchos, Constantinos; Kounis, George N; Kounis, Nicholas G
The pattern of clinical findings and electrocardiography (ECG) changes known as Wellens' syndrome is associated with significant stenosis of the proximal left anterior descending coronary artery. Cases can be classified according to the ECG pattern into type 1 (biphasic T waves) or type 2 (deeply inverted T waves, especially in leads V2 and V3). We present here an unusual case of Wellens' syndrome in which the ECG pattern changed from type 2 to type 1 during observation, and in which the coronary lesion was in the middle rather than the proximal part of the left anterior descending artery. PMID:14708424
Kardesoglu, E; Celik, T; Cebeci, B S; Cingozbay, B Y; Dincturk, M; Demiralp, E
Schnitzler's syndrome is an extremely rare entity that poses a challenge for the clinician not only due to its difficult diagnosis but also due to its management. In this article we report a new case and briefly review the current treatment options. PMID:23840220
Tinoco, Gabriel; Kanji, Rehan; Moola, Deepthi
Progeria is a rare and peculiar combination of dwarfism and premature aging. The incidence is one in several million births. It occurs sporadically and is probably an autosomal recessive syndrome. Though the clinical presentation is usually typical, conventional radiological and biochemical investigations help in confirming the diagnosis. We present a rare case of progeria with most of the radiological features as a pictorial essay.
Rastogi, Rajul; Chander Mohan, SM
Rapunzel syndrome refers to a very rare condition in which swallowed hair forms a gastric trichobezoar that has a long tail extending into the small bowel. We describe a case of Rapunzel syndrome in an 8-year-old girl who presented with abdominal mass, epigastric pain and vomiting. Abdominal computed tomography scan showed a markedly dilated stomach filled with coarse heterogeneous materials. Upper gastrointestinal endoscopy revealed a huge hairy ball with a tail extending through the pylorus. We performed a surgical laparotomy and successfully removed a huge trichobezoar with a long tail extending into the middle portion of jejunum. Psychiatric consultation with review showed her past history of trichotillomania and trichophagia 4 years ago. But her parents denied further psychiatric therapy and she was lost to the follow-up. Rapunzel syndrome should be included in the differential diagnosis in children with chronic abdominal pain and trichophagia. PMID:24010117
Kim, Joon Sung; Nam, Chang Woo
Rapunzel syndrome refers to a very rare condition in which swallowed hair forms a gastric trichobezoar that has a long tail extending into the small bowel. We describe a case of Rapunzel syndrome in an 8-year-old girl who presented with abdominal mass, epigastric pain and vomiting. Abdominal computed tomography scan showed a markedly dilated stomach filled with coarse heterogeneous materials. Upper gastrointestinal endoscopy revealed a huge hairy ball with a tail extending through the pylorus. We performed a surgical laparotomy and successfully removed a huge trichobezoar with a long tail extending into the middle portion of jejunum. Psychiatric consultation with review showed her past history of trichotillomania and trichophagia 4 years ago. But her parents denied further psychiatric therapy and she was lost to the follow-up. Rapunzel syndrome should be included in the differential diagnosis in children with chronic abdominal pain and trichophagia.
Nam, Chang Woo
Introduction Glucagonoma syndrome is a rare paraneoplastic phenomenon, with an estimated incidence of one in 20 million, characterized by necrolytic migratory erythema, hyperglucagonemia, diabetes mellitus, anemia, weight loss, glossitis, cheilitis, steatorrhea, diarrhea, venous thrombosis and neuropsychiatric disturbances in the setting of a glucagon-producing alpha-cell tumor of the pancreas. Necrolytic migratory erythema is the presenting manifestation in the majority of cases, so its early suspicion and correct diagnosis is a key factor in the management of the patient. Case presentation We present the case of a 70-year-old Caucasian woman with glucagonoma syndrome due to an alpha-cell tumor located in the tail of the pancreas, successfully treated with surgical resection. Conclusion Clinicians should be aware of the unusual initial manifestations of glucagonoma. Early diagnosis allows complete surgical resection of the neoplasm and provides the only chance of a cure.
Reported cases of cyclical Cushing's syndrome are rare. Of 14 successive patients with Cushing's syndrome nine collected sequential urine samples for the estimation of cortisol:creatinine ratio. Five had cyclical Cushing's syndrome while two had considerable variation in urinary cortisol excretion without a cyclical pattern being established. Two of the five patients with a cyclical syndrome had paradoxical responses to dexamethasone.
A B Atkinson; A L Kennedy; D J Carson; D R Hadden; J A Weaver; B Sheridan
Binder's syndrome is an uncommon entity characterized by midfacial hypoplasia along with Class III incisal relationship. The individuals with this syndrome are easily recognizable and the syndrome is mostly associated with other malocclusions. The current article presents two cases of this rare syndrome and describes its general features.
Vij, Hitesh; Batra, Puneet; Sadhu, Partha; Vij, Ruchieka
Cessation of normal skin cleansing seen in geriatric or self-neglected patients can cause accumulation of keratinous crusts on the skin. In the extreme end of this spectrum is a condition known as Diogenes syndrome (DS). These patients may have psychiatric disorders like paranoid disorders, mood affection, or temporofrontal dementia. Subjects are mainly the elderly but few cases in younger age group of patients have also been reported. Lesions of DS are usually found over upper central chest, back, and groin. In the young, lesions are mainly found over scalp, face, or arms. Absence of normal skin cleaning causes keratin and dirty debris to accumulate and with time form a thick shell. These debris can be secondarily infected by bacteria, fungus, and so forth. These skin lesions are not usually seen in individual with proper hygiene. We report a case of Diogenes syndrome in a 34-year-old young male patient who had associated schizophrenia. PMID:23424686
Biswas, Projna; Ganguly, Anusree; Bala, Sanchaita; Nag, Falguni; Choudhary, Nidhi; Sen, Sumit
Glucagonoma is a very rare islet cell tumor of the pancreas. We present a case of pancreatic tail tumor with the typical glucagonoma syndrome of necrolytic migratory erythema (NME), diabetes mellitus (DM), anemia, weight loss and glossitis. After complete resection of the pancreatic tumor, the glucagonoma syndrome subsided. In reviewing 120 cases of glucagonoma in the literature, the average tumor diameter was 3.6 cm. Most (68.1%) of the tumors occurred in the pancreatic tail. Two-thirds of the reported glucagonomas were malignant and 53.5% metastasized to other organs. The curative resection rate was 45.8%. A triad of pancreatic tumor, NME and DM should lead to the diagnosis of glucagonoma. PMID:10502856
Shyr, Y M; Su, C H; Lee, C H; Wu, C W; Lui, W Y
The purpose of this article is to report on the first known Korean case of Susac syndrome. An 18-year-old female came to our clinic reporting blurred vision of the left eye for 2 days. She also complained of decreased hearing with tinnitus of the right ear and mild headache. She was previously healthy and had no remarkable medical history. Best-corrected visual acuity was 20 / 50 in the left eye and 20 / 20 in the right eye. An axiomatic triad of ocular, cochlear, and neurologic involvement was observed in the patient. Fluorescein angiography showed branched retinal arterial occlusions in the left eye. A sudden right sensorineural hearing loss was observed on audimetry. Magnetic resonance images showed a hyperintense lesion in the white matter around the corpus callosum. The patient was treated with high doses of systemic corticosteroids, and no neuropsychological sequelae were observed. This is the first case report of Susac syndrome in Korea. In cases of retinal arterial occlusion with hearing loss or neuropsychological symptoms, Susac syndrome should be suspected.
Kim, Chul Gu; Cho, Sung Won; Kim, Jong Woo
The purpose of this article is to report on the first known Korean case of Susac syndrome. An 18-year-old female came to our clinic reporting blurred vision of the left eye for 2 days. She also complained of decreased hearing with tinnitus of the right ear and mild headache. She was previously healthy and had no remarkable medical history. Best-corrected visual acuity was 20 / 50 in the left eye and 20 / 20 in the right eye. An axiomatic triad of ocular, cochlear, and neurologic involvement was observed in the patient. Fluorescein angiography showed branched retinal arterial occlusions in the left eye. A sudden right sensorineural hearing loss was observed on audimetry. Magnetic resonance images showed a hyperintense lesion in the white matter around the corpus callosum. The patient was treated with high doses of systemic corticosteroids, and no neuropsychological sequelae were observed. This is the first case report of Susac syndrome in Korea. In cases of retinal arterial occlusion with hearing loss or neuropsychological symptoms, Susac syndrome should be suspected. PMID:24082778
Cho, Han Joo; Kim, Chul Gu; Cho, Sung Won; Kim, Jong Woo
We present a case of systemic granulomatous disorder/Blau syndrome. A patient was seen at our clinic with a diagnosis of Juvenile Idiopathic Arthritis (JIA). He was diagnosed with polyarticular JIA when he was two years old, at that time primary manifestations included inflammation of the hand and wrist joints bilaterally, later he developed ocular symptoms, which were attributed to JIA. He had liver, skin, pulmonary manifestations, and diagnostic workup including biopsy revealed granulomatous inflammation of these sites. During the diagnostic workup, he had worsening of ocular complaints, retinal exam showed panuveitis with multifocal choroiditis. These ocular findings are not seen in JIA, this, along with his other systemic manifestations, led us to revisit the diagnosis. Laboratory testing for genetic mutation for Blau syndrome was done and came back positive. Now all of his systemic findings were placed under one umbrella of systemic granulomatous syndrome/Blau syndrome. Due to worsening of ocular manifestations, he was started on Adalimumab with marked improvement of ocular and systemic manifestations and is followed by team that consists of Rheumatologist, Ophthalmologist, and Gastroenterologist.
Chauhan, Krati; Michet, Clement
PAGOD syndrome is an extremely rare congenital malformation complex involving multiple organs. These include pulmonary artery and lung hypoplasia, diaphragm defects, omphalocele, sex reversal or ambiguous genitalia, and complex cardiac defects. Eight cases have been reported to date. We report a case of PAGOD syndrome that is manifested by right diaphragm eventration, horseshoe lung with right lung hypoplasia, hypoplastic left
Joon Bum Kim; Jeong-Jun Park; Jae Kon Ko; Hyun Woo Goo; Young Hwe Kim; In Sook Park; Tae Jin Yun; Dong Man Seo
Eagle's syndrome is a disease caused by an elongated styloid process or calcified stylohyoid ligament. Eagle defined the disorder in 1937 by describing clinical findings related to an elongated styloid process, which is one of the numerous causes of pain in the craniofacial and cervical region. The prevalence of individuals with this anatomic abnormality in the adult population is estimated to be 4% with 0.16% of these individuals reported to be symptomatic. Eagle's syndrome is usually characterized by neck, throat, or ear pain; pharyngeal foreign body sensation; dysphagia; pain upon head movement; and headache. The diagnosis of Eagle's syndrome must be made in association with data from the clinical history, physical examination, and imaging studies. Patients with increased symptom severity require surgical excision of the styloid process, which can be performed through an intraoral or an extraoral approach. Here, we report a rare case of stylohyoid ligament bilaterally elongated to more than 60 mm in a 51-year-old female. We did a surgery by extraoral approach and patient's symptom was improved.
Moon, Chang-Sig; Lee, Baek-Soo; Kwon, Yong-Dae; Choi, Byung-Jun; Lee, Jung-Woo; Lee, Hyun-Woo; Yun, Sun-Ung
Multiple and familial cases of pilomatrixomas have been reported in myotonic dystrophy. We report 2 cases of pilomatrixoma in Turner's syndrome. Between 5 and 19 years of age, 1 patient developed 6 pilomatrixomas including atypical occurrences on the chest and the posterior aspect of the leg. This is the first report of multiple pilomatrixomas in Turner's syndrome. PMID:10640845
Noguchi, H; Kayashima, K; Nishiyama, S; Ono, T
Kallmann syndrome (KS), a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone producing neurons. The authors report a case of a 26-year-old Filipino male who presented with eunuchoid body proportion, absence of facial and axillary hair and sparse pubic hair, micropenis and bilaterally descended prepubertal testes. Associated findings were hyposmia, high pitched voice, absence of puncta and smooth philtrum. Hormonal assay showed hypogonadotropic hypogonadism. He has normal male karyotype. Ultrasonography revealed no renal abnormalities. MRI of the brain showed hypoplastic left olfactory bulb and aplastic right olfactory bulb. These findings are characteristic of KS. Androgen replacement with testosterone was started to induce virilisation. Our patient is now on regular follow-up to monitor response to treatment.
Arkoncel, Maria Luisa Cecilia R; Arkoncel, Francis Raymond P; Lantion-Ang, Frances Lina
Kallmann syndrome (KS), a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone producing neurons. The authors report a case of a 26-year-old Filipino male who presented with eunuchoid body proportion, absence of facial and axillary hair and sparse pubic hair, micropenis and bilaterally descended prepubertal testes. Associated findings were hyposmia, high pitched voice, absence of puncta and smooth philtrum. Hormonal assay showed hypogonadotropic hypogonadism. He has normal male karyotype. Ultrasonography revealed no renal abnormalities. MRI of the brain showed hypoplastic left olfactory bulb and aplastic right olfactory bulb. These findings are characteristic of KS. Androgen replacement with testosterone was started to induce virilisation. Our patient is now on regular follow-up to monitor response to treatment. PMID:22700069
Arkoncel, Maria Luisa Cecilia R; Arkoncel, Francis Raymond P; Lantion-Ang, Frances Lina
Patients with primary amenorrhea, sexual infantilism and elevated pituitary gonadotropins are frequently diagnosed with hypogonadism hypergonadotropic and suspected ovarian failure, secondary to a chromosomal abnormality, intrinsic ovarian failure or altered receptors for gonadotropins, mainly FSH (ovarian resistance). We report the case of a 16-year-old, admitted to the endocrinology clinic for primary amenorrhea and lack of development of secondary sexual characteristics. A complete physical examination revealed: height of 1.58 m and 57 kg weight, with incipient breasts (Tanner I), sparse pubic and axillary hair (Tanner I). The ultrasound reported small uterus and ovaries. Laboratory studies reported high levels of FSH and LH, estradiol and testosterone levels before puberty, prolactin, TSH, T3 and T4 normal. Normal female karyotype. Diagnostic laparoscopy was performed which showed two ovarian slips; biopsy was taken and reported both abundant primordial follicles and spindle cell stroma without evidence of primary and antral follicles, which integrates the diagnosis of resistant ovary syndrome. PMID:21966839
Morgan Ortiz, Fred; Meza Mendoza, Cuauhtémoc; Beltrán Lugo, Isabel; Caballero Rodríguez, Beatriz; Contreras Soto, Juan Omar
Objective: We present 2 cases of trigeminal trophic syndrome treated by surgery. Methods: We performed reconstruction of the ala nasi using a nasolabial flap or paramedian forehead flap in combination with an auricular chondrocutaneous composite graft. Results: One case was successfully treated. However, ulceration recurred intermittently in the other case. Conclusions: Although trigeminal trophic syndrome is rare, we believe that plastic surgeons should have a raised awareness of this entity and familiarity with the treatment options. PMID:24324849
Osaki, Yoko; Kubo, Tateki; Minami, Kyosuke; Maeda, Daisuke
Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.
Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad
Patients with the trichorhinophalangeal syndrome type II, also known as the Langer-Giedion syndrome, may present to the health care-givers or physicians in various specialties and need to be recognised in order that accurate diagnosis, management and counselling about prognosis and recurrence risks may be carried out. A case of young male with this condition is presented. PMID:10944842
Lambie, L; de Ravel, T J
Blackouts and giddy attacks are frequent problems for the geriatrician to solve. A case of the recently discovered sick sinus syndrome is described. Its diagnosis led to the insertion of a pacemaker, whereafter the patient has been completely symptom-free. This report aims at bringing this newly recognized syndrome to the attention of geriatricians and medical practitioners and to emphasize its
Treacher Collins syndrome is a rare autosomal dominant disorder of craniofacial development. The fully expressed phenotype exhibits characteristic dysmorphic features involving the face, eyes, mandible and ears. We report a case of a 17-year-old woman presenting with the typical orofacial implications of this syndrome. PMID:23709540
Mohan, Ravi Prakash Sasankoti; Verma, Sankalp; Agarwal, Neha; Singh, Udita
Crouzon syndrome is a genetic disorder also known as branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. Previously referred to as craniofacial dysostosis, the disorder is characterized by a number of clinical features; to date, it has no known single, initiating defect to account for all its characteristics. This article presents a case report of a 10-year-old boy with classical skeletal and soft tissue features of Crouzon syndrome. PMID:22623473
Belludi, Anup; Belludi, Sphoorthi; Bhardwaj, Amit; Dilliwal, Suryansh
The Crouzon syndrome is a genetic disorder which is known as the brachial arch syndrome. It is an autosomal dominant disorder which is one of a rare group of syndromes which is characterized by cranio synostosis or a premature closing of the cranial sutures. The major features are brachiocephaly, occular proptosis, an under developed maxilla, mid face hypoplasia, a rare cleft lip or palate, hypodontia (some teeth missing) and crowding of teeth. Due to the maxillary hypoplasia, the Crouzon syndrome patients generally have a considerable permanent underbite and they subsequently cannot chew by using their incisors. We have presented in this article, a case of the Crouzon syndrome which was seen in a girl who was aged six years, with similar symptoms and the multidisciplinary approach which has to be followed in managing the case. PMID:23814755
Prasad, Manu; Shetty, Ashwini S; Shantaram, Manjula
The Crouzon syndrome is a genetic disorder which is known as the brachial arch syndrome. It is an autosomal dominant disorder which is one of a rare group of syndromes which is characterized by cranio synostosis or a premature closing of the cranial sutures. The major features are brachiocephaly, occular proptosis, an under developed maxilla, mid face hypoplasia, a rare cleft lip or palate, hypodontia (some teeth missing) and crowding of teeth. Due to the maxillary hypoplasia, the Crouzon syndrome patients generally have a considerable permanent underbite and they subsequently cannot chew by using their incisors. We have presented in this article, a case of the Crouzon syndrome which was seen in a girl who was aged six years, with similar symptoms and the multidisciplinary approach which has to be followed in managing the case.
Prasad, Manu; Shetty, Ashwini S.; Shantaram, Manjula
Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counseling and early intervention form an essential part of treatment. Because of the paucity of reported cases in Indian literature and typical features in oral cavity, a dentist should be competent to diagnose and form a part of the multidisciplinary management team. Here, we report a case of a 14-year-old boy with AS.
Bhatia, Parul V; Patel, Purv S; Jani, Yesha V; Soni, Naresh C
Susac's syndrome is a vasospastic disease resulting from bilateral microangiopathy of the brain, cochlea and retina. It is characterized by encephalopathy, bilateral sensorineural fluctuating hearing loss and visual loss. It is very uncommon and usually affects women during young adulthood. Since all three symptoms of the triad may not be present, the clinical diagnosis is difficult. Therefore, neuroimaging, particularly magnetic resonance imaging, has an important role in establishing the diagnosis. In this case report, we present a young woman who had all the symptoms of Susac's syndrome. This is the first Susac's syndrome case reported in Turkey. PMID:17109892
Erer, Sevda; Boz, Meral; Taskapilioglu, Ozlem; Hakyemez, Bahattin; Kaderli, Berkant; Zarifoglu, Mehmet
Martsolf syndrome is an autosomal recessive syndrome characterized by microcephaly, mental retardation, cataract, hypogonadism and short stature. A seven-year-old boy was admitted to the hospital with growth retardation and difficulties in walking. His parents were first cousins. Bilateral lens extraction was performed during infancy because of congenital cataract. On physical examination he had short stature, microcephaly, micropthalmia, hypogonadism, mental retardation. Brain magnetic resonance imaging revealed alterations in the white matter. Up to date very few cases with this syndrome have been reported. This is the first case described in the Turkish population and may add valuable information to the literature. PMID:17515302
Bora, E; Cankaya, T; Alpman, A; Karaca, E; Cogulu, O; Tekgul, H; Ozkinay, F
The prune belly syndrome was first described in 1839 by Frolich. Till now about 300 cases have been reported in literature. The complete form of the syndrome is presented by a classic triad that is seen only in boys and is incompatible with life. The etiology of the syndrome is uncertain. Genetic factors, intrauterine infections, adverse mechanical factors have been implicated. The prenatal diagnosis relies on the ultrasonographic findings of oligohydramnion, renal anomalies, and non-immune fetal hydropsy. The present case concerns a newborn of male sex suffering from the most severe and rare form of the syndrome. The child died 5 minutes after his birth. The pathological examination found the patient devoid of striated muscles anterior abdominal wall, urethral atresia, hyperthrophy of the urinary bladder, bilateral hydroureter and hydronephrosis and coinciding cryptorchidism. The case indicates the PBS as one of the possible reasons for non-immune fetal hydropsy. PMID:10979181
Peshev, Z V; Krusteva, M B; Danev, V H
Bardet-Biedl Syndrome (BBS) is a heterogeneous syndromic form of retinal degeneration. We have identified a novel transcript of a known BBS gene, BBS3 (ARL6), which includes an additional exon. This transcript, BBS3L, is evolutionally conserved and is expressed predominantly in the eye, suggesting a specialized role in vision. Using antisense oligonucleotide knockdown in zebrafish, we previously demonstrated that bbs3 knockdown
Pamela R. Pretorius; Lisa M. Baye; Darryl Y. Nishimura; Charles C. Searby; Kevin Bugge; Baoli Yang; Robert F. Mullins; Edwin M. Stone; Val C. Sheffield; Diane C. Slusarski
Neu-Laxova syndrome (NLS) is a rare lethal syndrome found in both consanguinous and non-consanguinous couple. This is characterized by terrible face with unusual craniofacial appearance with exophthalmos, spectrum of central nervous system malformation, like microcaphaly, hypoplastic cerebellum, cleft lip/palate, ichthyosis and oedema. The diagnosis is made on the basis of clinical parameter. We report a 4 hour old male term newborn with IUGR of Neu-Laxova syndrome presented with anencephaly, rudimentary cerebellum, exophthalmos of right eye, bilateral cleft lip and palate and cryptorchidism. Anencephaly and cryptorchidism are two recently reported findings of NLS. We are presenting this case in addition from Bangladesh to lend further support to those two new findings as component of Neu-Laxova syndrome. Outcome of this syndrome is not good. Most of the patients are died of infection within hours to days. PMID:24584393
Roy, S; Begum, J; Sharifunnaher, B; Saha, A K; Afroza, S; Islam, M Z
Treacher Collins syndrome is named after the English surgeon Edward Treacher Collins, who initially described the syndrome's traits in 1900. This rare autosomal dominant disorder affects approximately 1:50 000 live births. It primarily affects the development of facial structures through a mutation in the TCOF1 gene found at the 5q32-33.1 loci. While common facies and phenotype can be described with this syndrome, the gene has a wide variation of expressivity, thus making the diagnosis of mild cases challenging. This study involves a term female diagnosed with Treacher Collins syndrome, who was also diagnosed with Tracheal Esophageal Fistula. She is expected to be of normal intelligence but, as is typical for Treacher Collins syndrome, has conductive hearing loss and therefore is at risk for developmental delay. This article describes her hospital course and outcomes thus far and is intended to guide the bedside practitioner in recognition and guidance of families in the future. PMID:22123469
Non-steroidal anti-inflammatory drugs are commonly prescribed in dental practice after minor oral surgical procedures such as tooth extraction. Diclofenac sodium is one of the non-steroidal anti-inflammatory drugs widely used for pain relief in dentistry. Although adverse reactions to these drugs are rare, at times they can cause a life-threatening phenomenon. Stevens-Johnson syndrome is one such potentially lethal adverse drug reaction. Most reported cases of analgesic-induced Stevens-Johnson syndrome were due to oxicams or propionic acid derivatives. There are very few detailed reports of Stevens-Johnson syndrome due to use of diclofenac. We report here a case of Stevens-Johnson syndrome which occurred due to use of diclofenac sodium. The clinical features of this condition and multidisciplinary management of the patient are described in brief. PMID:20587964
Shetty, Shishir R; Chatra, Laxmikanth; Shenai, Prashanth; Rao, Prasanna K
Glucocorticoid hypersensitivity syndrome has been reported to date only in several patients. This article describes a unique case of this syndrome in a 24-year old female admitted to hospital because of arterial hypertension and obesity. Although her clinical picture suggested Cushing's syndrome, she had low adrenocorticotropic hormone (ACTH) and cortisol levels with a poor response to corticotrophin-releasing hormone and Synacthen. In turn, an overnight dexamethasone suppression test with 0.25 mg of dexamethasone led to a dramatic decrease in morning cortisol. A diagnosis of glucocorticoid hypersensitivity was made and the patient started treatment with ketoconazole and cabergoline, which resulted in some clinical improvement. This case illustrates the need for clinical awareness of glucocorticoid hypersensitivity in patients suspected of Cushing's syndrome. PMID:23757909
Krysiak, R; Okopien, B
We report a case of Fisher syndrome accompanied by ocular flutter. A 19-year-old man presented with diplopia and vertigo, associated with preceding symptoms of common cold. Since symmetric weakness of abduction in both eyes, truncal ataxia, diminution of tendon reflexes, and gaze nystagmus were noted, he was diagnosed as having Fisher syndrome. Ocular flutter also was noticed during horizontal gaze. Serum anti-GQ1b antibody and anti-GM1 antibody were detected. He was followed without therapy and the symptoms resolved. The accompanying ocular flutter may suggest that a central nervous system disorder may also be present in Fisher syndrome. PMID:20593660
Nakayasu, Koki; Sakimoto, Tohru; Minami, Masayuki; Shigihara, Syuntaro; Ishikawa, Hiroshi
Tropical diabetic hand syndrome is a term used to describe diabetes complication of the hand affecting people in the tropics. It consists of localized cellulitis with variable swelling and ulceration of the hands, progressive, fulminant hand sepsis and gangrene in extreme cases. This syndrome is not well-recognized and is therefore less frequently reported. The authors describe three different female patients who were known diabetics of varying duration presenting with this syndrome at our tertiary health center and who were successfully managed by both the surgical and medical units. The need for early diagnosis and aggressive management is emphasized. PMID:24909485
Ezeani, I U; Edo, A E
Freeman-Sheldon syndrome, also called "whistling-face syndrome," is a very rare genetic condition, occurring both sporadically and by transmission through autosomal dominant or recessive mode, which affects primarily the face and skeleton. Characteristics include microstomia of the mouth, which gives the person a whistling appearance, a flat face, club feet, contracted joint muscles of the fingers and hands, and underdeveloped nose cartilage. This article describes a case of Freeman-Sheldon syndrome in a 10-year-old male. The most apparent deformities are associated with orofacial and skeletal development. PMID:12731619
Aren, Gamze; Yurdabakan, Zuhal; Ozcan, Ilknur
The glucagonoma syndrome is characterized by dermatitis, glucose intolerance, hypoaminoacidemia, and hyperglucagonemia secondary to an alpha-cell tumor of the pancreas. Other clinical features include anemia, glossitis, and weight loss. A 62-year-old woman with the syndrome sought medical attention for a chronic dermatitis. A skin biopsy was suggestive of necrolytic migratory erythema. A glucagonoma was surgically removed from the tail of the pancreas. Review of the literature indicates that 56 proven and 33 probable cases of glucagonoma syndrome have been reported. PMID:6092443
Parker, C M; Hanke, C W; Madura, J A; Liss, E C
Goldenhar’s syndrome is a rare condition which was described initially in the early 1950s. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformations of the ears. In 1963, Gorlin suggested the name, oculo-auriculo-vertebral (OAV) dysplasia for this condition and he also included vertebral anomalies as signs of this syndrome. The aetiology of this rare disease has not been fully understood, as it has shown itself to be variable genetically and to be caused due to unclear reasons. Here, we are reporting two cases of Goldenhar’s syndrome, where almost all the classical signs of this rare condition were present.
Sreenivasan, Arathi; Saraswathy, Gopal K
Goldenhar's syndrome is a rare condition which was described initially in the early 1950s. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformations of the ears. In 1963, Gorlin suggested the name, oculo-auriculo-vertebral (OAV) dysplasia for this condition and he also included vertebral anomalies as signs of this syndrome. The aetiology of this rare disease has not been fully understood, as it has shown itself to be variable genetically and to be caused due to unclear reasons. Here, we are reporting two cases of Goldenhar's syndrome, where almost all the classical signs of this rare condition were present. PMID:24959523
Ashokan, C Seethalakshmi; Sreenivasan, Arathi; Saraswathy, Gopal K
Mazabraud's syndrome is a rare disorder characterized by the association of single or multiple intramuscular myxomas with fibrous dysplasia. Here, we present the first case of Mazabraud's syndrome visualized on 18F-FDG PET/CT with histopathological confirmation of the myxoma. Our case demonstrates a slightly increased FDG uptake (SUVmax 2.1) within the myxomas and a moderately to highly increased tracer uptake (SUVmax 7.0) within the fibrous dysplastic lesions. The typical histological appearance of the intramuscular myxoma confirmed the radiological diagnosis. Further, we discuss the imaging findings and the histopathological features of this rare case with a review of the related literature.
Munksgaard, Peter Svenssen; Salkus, Giedrius; Iyer, Victor V; Fisker, Rune Vincents
A single case of trichorhinophalangeal syndrome, type I, is reported. The patient manifested the complete triad of the syndrome: thin, sparse, slow-growing scalp hairs; a pear-shaped nose; and cone-shaped epiphysis in some interphalangeal articulations of both hands. In addition, tooth decay, pectus carinatum, lumbar scoliosis, and polycystic ovary were observed. This multisystemic disorder is apparently rare, but its prevalence is probably underestimated in the dermatologic literature. PMID:7851130
Braga, D; Manganoni, A M; Gavazzoni, R; Pasolini, G; De Panfilis, G
We are reporting here, a case of the Lenz syndrome in a neonate who was brought to the Paediatric OPD, Kasturba Medical College Hospital, Attavar, Mangalore India, with the complaints of poor suckling since birth and abnormal facial features. Altogether, the characteristic congenital abnormal findings in Lenz syndrome, which comprise of microophthalmia, ear anomalies, microcephaly, skeletal and digital deformities, and urogenital malformations were observed, with an exception of a dental anomaly. Dental abnormalities were not pertinent, as the patient was a neonate.
T, Sohil; K, Ketki; M S, Rukmini; K, Nutan; M, Poornima
Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of distinct structural and functional subregions including the basal body, transition zone (TZ) and inversin (Inv) compartments, and defects in this organelle are associated with an expanding spectrum of inherited disorders including Bardet-Biedl syndrome (BBS), Meckel-Gruber Syndrome (MKS), Joubert Syndrome (JS) and Nephronophthisis (NPHP). Despite major advances in understanding ciliary trafficking pathways such as intraflagellar transport (IFT), how proteins are transported to subciliary membranes remains poorly understood. Using Caenorhabditis elegans and mammalian cells, we investigated the transport mechanisms underlying compartmentalization of JS-associated ARL13B/ARL-13, which we previously found is restricted at proximal ciliary membranes. We now show evolutionary conservation of ARL13B/ARL-13 localisation to an Inv-like subciliary membrane compartment, excluding the TZ, in many C. elegans ciliated neurons and in a subset of mammalian ciliary subtypes. Compartmentalisation of C. elegans ARL-13 requires a C-terminal RVVP motif and membrane anchoring to prevent distal cilium and nuclear targeting, respectively. Quantitative imaging in more than 20 mutants revealed differential contributions for IFT and ciliopathy modules in defining the ARL-13 compartment; IFT-A/B, IFT-dynein and BBS genes prevent ARL-13 accumulation at periciliary membranes, whereas MKS/NPHP modules additionally inhibit ARL-13 association with TZ membranes. Furthermore, in vivo FRAP analyses revealed distinct roles for IFT and MKS/NPHP genes in regulating a TZ barrier to ARL-13 diffusion, and intraciliary ARL-13 diffusion. Finally, C. elegans ARL-13 undergoes IFT-like motility and quantitative protein complex analysis of human ARL13B identified functional associations with IFT-B complexes, mapped to IFT46 and IFT74 interactions. Together, these findings reveal distinct requirements for sequence motifs, IFT and ciliopathy modules in defining an ARL-13 subciliary membrane compartment. We conclude that MKS/NPHP modules comprise a TZ barrier to ARL-13 diffusion, whereas IFT genes predominantly facilitate ARL-13 ciliary entry and/or retention via active transport mechanisms.
Cevik, Sebiha; Clarke, Lara; van Reeuwijk, Jeroen; Hori, Yuji; Horn, Nicola; Hetterschijt, Lisette; Wdowicz, Anita; Mullins, Andrea; Kida, Katarzyna; Kaplan, Oktay I.; van Beersum, Sylvia E. C.; Man Wu, Ka; Letteboer, Stef J. F.; Mans, Dorus A.; Katada, Toshiaki; Kontani, Kenji; Ueffing, Marius; Roepman, Ronald; Kremer, Hannie; Blacque, Oliver E.
Three genes that encode related Ig-superfamily molecules have recently been mapped to human chromosome 15 in the region q22.3-23, and to the syntenic region on mouse chromosome 9. These genes presumably derived from gene duplications and they are highly similar to Deleted in Colorectal Cancer (DCC), which functions as an axon guidance molecule during development of the nervous system. In order to find out whether additional genes of this class were present in a chromosomal cluster, we produced a comparative physical map within the region of synteny between mouse chromosome 9 and human chromosome 15. This interval overlaps the critical region for the fourth genetic locus for Bardet-Biedl Syndrome (BBS4) in humans. Bardet-Biedl Syndrome (OMIM 600374) is characterized by poly/syn/brachydactyly, retinal degeneration, hypogonadism, mental retardation, obesity, diabetes, and kidney abnormalities. A detailed map of this locus will help to identify candidate genes for this disorder.
Kappen, Claudia; Salbaum, J. Michael
A 25-year-old man presented with blurred vision, headache and dizziness. On questioning, there was also a history of a preceding diarrhoeal illness. Initial investigations were normal. However, after a week, he represented with a Parinaud's syndrome. In view of the preceding diarrhoea, the transient unsteadiness and the areflexia on examination, anti-GQ1b antibodies were requested. The resulting titre was positive confirming the suspected diagnosis of Miller Fisher syndrome. He responded to intravenous immunoglobulins with full resolution of his symptoms and signs. Although various unusual neuro-ophthalmological signs have been reported localising to the brainstem, to our knowledge, this is the first case report of Parinaud's syndrome being the presenting symptom of Miller Fisher syndrome. PMID:23175005
Mallia, Maria; Chircop, Charmaine; Aquilina, Josanne
We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported.
Ghoshal, Bhaswati; Lahiri, Subhrajit; Nandi, Debabrata
Background Neonatal Marfan syndrome is a rare and severe phenotype of this disease. A poor prognosis is anticipated due to the high probability of congestive heart failure, and mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management at an early age. Case Presentation We present two consecutive patients with this disease who are the first reported cases from Iran to the best of our knowledge. Unfortunately both of them died shortly after diagnosis. Conclusion Neonatal Marfan syndrome is reported from Iran and has a poor prognosis like the patients reported from elsewhere.
Ghandi, Yazdan; S.Zanjani, Keyhan; Mazhari-Mousavi, Seyed-Eshagh; Parvaneh, Nima
Background Apical ballooning syndrome mimics acute coronary syndromes and it is characterized by reversible left ventricular apical ballooning in the absence of angiographically significant coronary artery stenosis. Case presentation This is a case of a 40-year-old Caucasian male without any health related problems that was submitted to an urgent coronary angiography because of acute chest pain and marked precordial T-wave inversions suggestive of acute myocardial ischemia. Coronary angiography showed no significant stenosis of the coronary arteries. Left ventriculography showed systolic apical ballooning with mild basal hypercontraction. Conclusion Physicians should be aware of the presentation of apical ballooning syndrome, and the chest pain after following acute stress should not be readily attributed to anxiety.
A new case of Foreign Accent Syndrome is described. This American woman presented with a British- or Australian- sounding accent after stroke, which resulted in a lacunar infarct in the left internal capsule. The atypical etiology and apparent changes in lexical use are described. It is hypothesized that an abnormally tense vocal tract posture may…
Ryalls, Jack; Whiteside, Janet
Hemophagocytic syndrome (HPS) is an uncommon manifestation in systemic lupus erythematosus (SLE). Clinical features of HPS include fever, pancytopenia, abnormal liver enzyme, hepatosplenomegaly, lymphadenopathy, and coagulation disorder. HPS comprises primary and reactive forms. Herein, we describe a case of untreated SLE with HPS as one of the first manifestations of systemic Lupus.
Tamizifar, Babak; Samadi, Golnaz; Rismankarzadeh, Maryam
Escobar syndrome is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity. In this case, we presented the anesthesic management of a 2-year-old child undergoing frontal sling operation for ptosis and amblyopia etiology exploration.
Arpaci, Ayse Hande; Bozkirli, Fusun; Konuk, Onur
We report here 3 cases with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia), and facial microsomia. One of the patients also had vitiligo, which is yet to be reported as an association.
Gaurkar, Sudarshan P; Gupta, Khushboo D; Parmar, Kirti S; Shah, Bela J
The human eye, as an organ, can offer critical clues to the diagnosis of various systemic illnesses. Ocular changes are common in various endocrine disorders such as diabetes mellitus and Graves’ disease. However there exist a large number of lesser known endocrine disorders where ocular involvement is significant. Awareness of these associations is the first step in the diagnosis and management of these complex patients. The rare syndromes involving the pituitary hypothalamic axis with significant ocular involvement include Septo-optic dysplasia, Kallman's syndrome, and Empty Sella syndrome all affecting the optic nerve at the optic chiasa. The syndromes involving the thyroid and parathyroid glands that have ocular manifestations and are rare include Mc Cune Albright syndrome wherein optic nerve decompression may occur due to fibrous dysplasia, primary hyperparathyroidism that may present as red eye due to scleritis and Ascher syndrome wherein ptosis occurs. Allgrove's syndrome, Cushing's disease, and Addison's disease are the rare endocrine syndromes discussed involving the adrenals and eye. Ocular involvement is also seen in gonadal syndromes such as Bardet Biedl, Turner's, Rothmund's, and Klinefelter's syndrome. This review also highlights the ocular manifestation of miscellaneous syndromes such as Werner's, Cockayne's, Wolfram's, Kearns Sayre's, and Autoimmune polyendocrine syndrome. The knowledge of these relatively uncommon endocrine disorders and their ocular manifestations will help an endocrinologist reach a diagnosis and will alert an ophthalmologist to seek specialty consultation of an endocrinologist when encountered with such cases.
Chopra, Rupali; Chander, Ashish; Jacob, Jubbin J.
We present a case of chronic lymphoedema that progressed to Stewart-Treves syndrome in a 63-year-old woman with a previous modified radical mastectomy, associated lymph node dissection, chemotherapy and radiotherapy. While producing stabilisation of most cutaneous lesions initially, chemotherapeutic treatment of the angiosarcoma did not prevent subsequent metastasis and patient death. We urge vigilance and regular follow-up appointments for patients following a mastectomy with chronic lymphoedema to facilitate prevention or early treatment of this devastating syndrome. PMID:23838488
McKeown, D G; Boland, P J
Ashru-tear secretion is an integral component of the ocular surface physiology; when compromised (quantitatively or qualitatively) lead to shushkakshipaka (dry eye syndrome) with various ocular discomfort symptoms and ultimately the patient may land in corneal blindness.Local, systemic and environmental factors play a major role in its pathogenisis. Vata& Pitta/Rakta vitiation as per Ayurvedic view point are the major contributing pathological factors in its manifestation. Contrary to the available modern medical treatment / management regimen; Ayurveda propounds a systematic systemic/ holistic treatment approach in the treatment of dry eye syndrome. A patient of shushkakshipaka was treated with such treatment protocol, is presented as a case study in this article
Dhiman, K. S.
The Charles Bonnet syndrome is a condition in which individuals experience complex visual hallucinations without evident psychopathology or disturbance of normal consciousness. Although it can affect people of any age, it is more frequent among the elderly. It occurs mostly in people with damaged sight, as a result of peripheral eye pathology or pathology within the brain. A common definition of the syndrome is, however, not yet available nor has its pathophysiology been elucidated. This report concerns a 72-year-old widow who was practically blind after a cataract operation on both eyes ten years ago. Visual hallucinations appeared in the absence of other psychopathological symptoms. During hospitalization of the patient, an extensive meningeoma sellae turcicae was discovered, which destroyed both nervi optici. This case shows that multiple causes of the Charles Bonnet syndrome should be taken into consideration and that an exact diagnostic evaluation is essential. PMID:15506317
Plesnicar, Blanka Kores; Zalar, Bojan; Bocic, Maja Bundalo
Background Diogenes syndrome is a behavioural disorder characterized by domestic squalor, extreme self-neglect, hoarding, and lack of shame regarding one’s living condition. Patients may present due to a range of reasons. Recognizing these will allow for earlier management of this high-mortality condition. Case presentation 61-year Caucasian female known with bipolar 1 disorder presented with manic symptoms. She was very unkempt and foul smelling. After being admitted involuntarily, she requested that someone go to her home to feed her pets. Her house was filled with garbage, rotting food, and animal feces. She had no insight into any personal hygiene or public health problems. Conclusions Patients with Diogenes syndrome may be difficult to identify. Knowledge of the characteristics of Diogenes syndrome can aid in earlier recognition of such individuals, in order to decrease morbidity and mortality, and to improve public health.
7 cases of Werner's syndrome in one family of northern Sardinia (the female : male ratio being 4:3) are reported. A 9-year-old girl affected with Cooley's anemia is reported too. The typical complete pattern of the syndrome was observed in patients in the fourth decade of their lives, whereas in the two youngest ones, some features were missing. 1 patient died of gastric carcinoma, 1 of cachexia. Consanguinity was established in two generations. The genealogical tree suggests an autosomal recessive mode of inheritance. Genealogical, clinical, biochemical, and histopathological studies were performed. As far as we know, this is the largest number of patients with Werner's syndrome reported in one family. PMID:437224
Rabbiosi, G; Borroni, G
Nephrotic syndrome (NS) rarely develops before the age of 1 year. The case is presented of nephrotic syndrome occurring in the form of Denys-Drash syndrome. In a newborn of female sex in birth certificate, dysmorphia was found of the external urogenital organs. The karyotype was 46XY. Massive proteinuria, low total serum protein level, dysproteinaemia, hypercholesterolaemia justified the diagnosis of NS. In renal biopsy performed diffuse mesangial fibrosis was found. The progression of renal insufficiency was very rapid and within few weeks terminal renal failure developed. The parents refused consent to renal replacement treatment. The baby died at the age of 102 days. The autopsy examination confirmed renal changes in the form of diffuse fibrosis; gonads of testicular structure were found in the abdominal cavity. PMID:12868198
Puczko-Nogal, Barbara; Nogal, Pawe?; Bili?ska, Wies?awa; Kulig, Andrzej; Nowicki, Micha?
The Department of Pathology at the University of Pittsburgh Medical Center has compiled a wide range of pathology case studies to aid students and instructors in the medical/health science field. This particular case involves a 41 year-old woman experiencing the following symptoms for a period of 18 months: fatigue, weakness, lethargy, and decreased concentration. The patientĂ˘ÂÂs history, description of CT scans, and images from histological examinations, which contributed to the conclusive diagnosis, are all provided here for your review. The contributing doctors provide a detailed discussion of the patientĂ˘ÂÂs condition in the Ă˘ÂÂFinal DiagnosisĂ˘ÂÂ section. Students will find this resource especially helpful, as it provides experience with patient history, lab results, and diagnostics.
Dacic, Sanja; Rajan, Prabha B.
Kearns-Sayre syndrome (KSS), first described in 1958, is a multisystem disease defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy and atrioventricular block. These signs are frequently associated with increased cerebrospinal fluid protein level and cerebellar ataxia. This syndrome is caused by deletions in mitochondrial DNA, the age of onset is generally below 20, and the degree of severity differs between patients, as well as the prognosis, which may be fatal. The ocular manifestations include: bilateral ptosis, progressive external ophthalmoplegia and atypical pigmentary retinopathy. By way of this case report, the authors discuss the epidemiologic, clinical and therapeutic aspects of KSS, including the difficulty in managing ptosis in these cases. PMID:22981519
Gaboune, L; Baha Ali, T; Benfdil, N; Khoumiri, R; Ouaggag, B; Sayouti, A; Moutaouakil, A
Summary Neuroleptic malignant syndrome (NMS) is a life-threatening neurologic complication associated with the use of neuroleptic agents and characterized by a distinctive clinical syndrome of fever, rigidity, autonomic nervous system dysfunction and mental status change. This report discusses the clinical presentation, possible etiology, pathogenesis and treatment of one case of recurrent NMS in a middle-aged woman with schizophrenia. NMS occurred after combined treatment with haloperidol and aripiprazole (the first episode) and, four years later, after combined treatment with haloperidol and clozapine (the second episode). This case highlights the need to be particularly cautious in the use of antipsychotic medications in patients with a history of NMS and, whenever possible, to avoid combined treatment with multiple antipsychotic medications in these patients.
Ouyang, Zexiang; Chu, Li
Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.
Berber, Ilhami; Erkurt, Mehmet Ali; Kuku, Irfan; Kaya, Emin; Koroglu, Mustafa; Gul, Mehmet; Bentli, Recep
Ovulation induction has been an important mode of treatment of infertility. Ovarian stimulation may result in a supraphysiologic response leading to an iatrogenic complication known as the ovarian hyperstimulation syndrome (OHSS). This syndrome is potentially a lethal condition, the pathophysiologic hallmark of which is the accumulation of massive extravascular exudate combined with profound intravascular volume depletion and hemoconcentration. We report a case of severe OHSS with very large ovaries in a 35 year old case of embryo transfer. The patient presented to the emergency department with abdominal pain, massive ascites, respiratory distress and amenorrhea. The patient was managed symptomatically with no complications. Although ovarian hyperstimulation is a rare entity, it is important that the physician recognizes this condition. Prompt diagnosis and successful management is likely to avoid serious and rapid development of complications. PMID:24966492
Lodh, Moushumi; Mukhopadhyay, Jheelam; Sharma, Vikas
INTRODUCTION: To raise awareness among health care workers of the risk of withdrawal symptoms after longstanding and intense abuse of gamma-hydroxybutyric acid. CASE PRESENTATION: A 23 year old Caucasian woman presented with gamma-hydroxybutyric addiction and withdrawal syndrome. The symptoms of gamma-hydroxybutyric withdrawal in this patient initially went unrecognized, upon which her situation deteriorated in such a way that she needed
Michael A Kuiper; Nicole Peikert; E Christiaan Boerma
Stiff-person syndrome (SPS) is a rare disorder, characterized by progressive fluctuating muscular rigidity and spasms. Glutamic acid decarboxylase (GAD) antibody is primarily involved in the pathogenesis of SPS and SPS is strongly associated with other autoimmune disease. Here we report three cases of patients with classical SPS finally confirmed by high serum level of GAD antibodies. All of our patients respond favorably to gamma amino butyric acid-enhancing drugs and immunotherapies.
Jung, Yu Jin; Jeong, Han G.; Kim, Ryul; Kim, Han-Joon; Jeon, Beom S.
Evans Syndrome (ES) is the rare simultaneous or subsequent development of immune thrombocytopenia purpura (ITP) and autoimmune hemolytic anemia (AIHA). It portends a poorer prognosis and a more aggressive line of management than either condition presenting alone. Here we report a case of a young female who presented with both bleeding and acute decompensated anemia. Although she was successfully treated, mystery still shrouds the etiology, pathophysiology, as well as line of management of this rare and enigmatic disease. PMID:23603626
Dosi, R V; Ambaliya, A P; Patell, R D; Patil, R S; Shah, P J
A case of a 25-year-old female patient with reduction of visual acuity, strabismus convergence with corneal scars and paralimbal neovascularisation of her left eye with skin changes of linear skin naevus type is presented. The diagnosis of Jadassohn-Lewandowsky syndrome was based on characteristic skin and eye disturbances. There are also typical changes in mucous membranes and central nervous system. The treatment is difficult and a certain role may be played by cosmetic and repair surgery. PMID:9213601
Sobecki, R; Jaroszewicz, C; Czechowicz-Janicka, K
Proteus syndrome (PS) is a rare hamartomatous disorder characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. Partial gigantism with limb or digital overgrowth is pathognomonic of PS. We report a rare case of PS in a 50-year-old man who presented with inferior wall myocardial infarction and was incidentally detected to have hypertrophy of index and middle fingers of both the hands.
Talari, Keerthi; Subbanna, Praveen Kumar Arinaganhalli; Amalnath, Deepak; Suri, Subrahmanyam Dharanitragada Krishna
Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. Conclusion In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.
Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. Patients with this syndrome present failure to thrive, short stature, premature aging, neurological alterations, photosensitivity, delayed eruption of the primary teeth, congenitally absent of some permanent teeth, partial macrodontia, atrophy of the alveolar process and caries. It could be caused by two gene mutations, CNK1 (ERCC8) and ERCC6, located on the 5 and 10 chromosomes respectively, causing two variations of Cockayne s syndrome, CS-A, secondary to a ERCC8 mutation and CS-B with ERCC6 mutation, the last one causes hypersensitivity to the ultraviolet light secondary to a DNA repair defect. The syndrome is also associated with mutations of the XPB, XPD and XPG genes. In this report we present a 9 year and 4 month old patient. He had a height of 94 cm, weight of 8.6 Kg, head circumference of 42 cm. and blood pressure of 120/80. Cachectic habitus, kyphosis, microcephaly, oval face, sunken eyes, a thin and beaklike nose, lack of subcutaneous facial fat (especially in the middle of the face), and large ears give the patient a birdlike appearance. It is notorious the photosensitivity in all the sun-exposed skin. The patient also displays delayed psychomotor skills and mental retardation. In the oral cavity we found deficient hygiene, gingivitis, cervical caries, enamel hipoplasia, abnormal position of the upper and inferior lateral incisors, macrodontia of the upper central teeth, the left one presented a caries. In the x-ray we observed congenital absence of 14, 23 and 24 teeth and mandibular hipoplasia. The aim of this review is to show the dentistry community the characteristics of the Cockayne s syndrome by means of a clinical case. PMID:16648759
Arenas-Sordo, María de la Luz; Hernández-Zamora, Edgar; Montoya-Pérez, Luis Alberto; Aldape-Barrios, Beatriz Catalina
Kallmann syndrome is a very rare hereditary disease. It is characterized by hypogonadotropic hypogonadism in association with anosmia ot hyposmia, both of which occur as a result of the failure of neuronal migration of the luteinizing hormone releasing hormone (LHRH)--secreting neurons and the neurons of the vemeronasal nerve. It can be autosomal dominant, autosomal recessive, or X-linked mode of inheritance. We report a case of Kallmann syndrome that presented with delay puberty, color blindness, gynecomastia, and absence of smell. Plasma levels of LH, FSH and testosterone were very low. The patient's adrenal and thyroid hormone levels were normal. Chromosome analysis showed 46, XY karyotype without deletion in KAL gene (Xp22.3) from FISH. After 9 months of treatment by HCG and HMG, the amount of pubic hair and the volume of bilateral testes, as well as the level of testosterone had increased. Most importantly, motile sperm count be found in semen. PMID:12380326
Li, Ching-Chia; Chao, Mei-Chyn; Huang, Shu-Pin; Chou, Yii-Her; Huang, Chun-Hsiung; Chen, A-Hsiung; Wu, Yi-Ping
A 9-year-old boy presented with fever not responding to antibiotic therapy and elevated blood urea and serum creatinine levels. The patient developed microangiopathic hemolytic anemia and thrombocytopenia during the hospital stay. Kidney biopsy confirmed the diagnosis of atypical hemolytic uremic syndrome (HUS). The patient had sufficient urine output, normal blood pressure, and no evidence of peripheral edema during the whole course of his disease. Serum levels of anti-Epstein-Barr virus immunoglobulin M was elevated, indicating the possible role of Epstein-Barr virus infection in inducing atypical HUS in this patient. The patient underwent hemodialysis with dramatic response. He was discharged with normal kidney function after a few days. Kidney function and platelet count were normal 12 months after the initial presentation. This case report shows that atypical hemolytic uremic syndrome could have unusual presentations such as the absence of oliguria, hypertension, and edema, with rapid recovery and good prognosis. PMID:25001143
Fallahzadeh, Mohammad Amin; Fallahzadeh, Mohammad Kazem; Derakhshan, Ali; Shorafa, Eslam; Mojtahedi, Yusof; Geramizadeh, Bita; Fallahzadeh, Mohammad Hossein
Churg-Strauss syndrome (CSS) is a systemic necrotizing vasculitis of the small and medium vessels, associated with extravascular eosinophilic granulomas, peripheral eosinophilia and asthma. This is a rare syndrome of unknown etiology, affecting both genders and all age groups. CSS patients usually respond well to steroid treatment, although relapses are common after it ends. Timely diagnosis and treatment generally lead to a good prognosis with a 90% survival rate at one year. A brief review of CSS is presented, with particular attention to diagnosis, therapy and recent developments in this area. The authors then report and discuss the clinical, laboratory and imaging characteristics of four patients admitted to an Internal Medicine Department with this diagnosis. The treatment, response and follow-up of the cases are also described. PMID:22240164
Alfaro, T M; Duarte, C; Monteiro, R; Simăo, A; Calretas, S; Nascimento Costa, J M
Background Anterior segment dysgenesis is a failure of normal development of the anterior segment of the eye. The structural anomalies are associated with glaucoma and corneal opacity which may lead to blindness. Case presentation A Caucasian male was noted to have 'funny pupils' at the age of seven years but not followed up. He was diagnosed to have Axenfeld-Rieger syndrome at the age of thirty four years when he presented with glaucoma and visual field loss. Conclusion Axenfeld-Rieger syndrome is uncommon. There is risk of sight loss due to glaucoma and corneal opacity. Importance of long-term follow up in cases of abnormal ocular findings in early life is emphasised.
Dhir, L; Frimpong-Ansah, K; Habib, Nabil E
Olfactory Reference Syndrome (ORS) is one of the varieties of the somatic type of the Delusional Disorder, and it is characterized by the mistaken statement of a patient who declares the issuance of a foul odor coming from his own body and that others may notice. In the upcoming edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) it has been proposed to break off ORS as an independent pathology. From an illustrative case report, we review the relevant literature and discuss this proposal. PMID:22851484
Cruzado, Lizardo; Cáceres-Taco, Elisa; Calizaya, Jesús R
Nasogastric tube syndrome (NTS) is an uncommon complication of an indwelling nasogastric tube. Ulceration and infection in the posterior cricoid region causes dysfunction in the abduction of the vocal cords and may seriously compromise patients' airway. This pathology should be considered in patients with prolonged nasogastric intubation who start with moderate pharyngeal pain. We report a case of a 70 year-old woman, admitted to the Neurology department of our centre due to an ischaemic cerebral accident who presented acute dyspnoea requiring emergency tracheotomy following prolonged nasogastric intubation. PMID:20061208
Vielva del Campo, Belén; Moráis Pérez, Darío; Saldańa Garrido, David
Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita, transverse limb defects, and cutis marmorata telangiectatica. AOS can also be associated with extensive lethal anomalies of internal organs, including the central nervous, cardiopulmonary, gastrourointestinal, and genitourinary systems. Generally, the more severe these interrelated anomalies are, the poorer the prognosis becomes. In the relevant literature on this topic, it is somewhat unclear as to whether the prognosis of AOS without lethal anomalies alters the lifespan. We report a case of AOS with typical skin defects only, and no internal organ anomalies.
Seo, Jong-Keun; Kang, Ju-Hyun; Lee, Hyun-Jae; Sung, Ho-Suk; Hwang, Seon-Wook
Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita, transverse limb defects, and cutis marmorata telangiectatica. AOS can also be associated with extensive lethal anomalies of internal organs, including the central nervous, cardiopulmonary, gastrourointestinal, and genitourinary systems. Generally, the more severe these interrelated anomalies are, the poorer the prognosis becomes. In the relevant literature on this topic, it is somewhat unclear as to whether the prognosis of AOS without lethal anomalies alters the lifespan. We report a case of AOS with typical skin defects only, and no internal organ anomalies. PMID:20548894
Seo, Jong-Keun; Kang, Ju-Hyun; Lee, Hyun-Jae; Lee, Deborah; Sung, Ho-Suk; Hwang, Seon-Wook
Prune belly syndrome (PBS) is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, "prune-like" abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery-right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection. PMID:23639747
Xu, Wei; Wu, Hui; Wang, Dong-Xuan; Mu, Zhi-Hong
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation. PMID:24778568
Ulusal, S; Gürkan, H; Vatansever, U; Kürkçü, K; Tozkir, H; Acuna?, Ba
Larsen syndrome is a rare condition that causes multiple large joint dislocations and characteristic flattened facies. We present a case of a patient with Larsen syndrome with a conductive hearing loss due to ossicular malposition/dislocation. We discuss the aetiopathogenesis of hearing loss in Larsen syndrome.
Nash, Robert; Majithia, Anooj; Ujam, Atheer; Singh, Arvind
REVERSIBLE posterior leukoencephalopathy syndrome (RPLS) is a rare neurological syndrome characterized by headache, altered mental status, seizures, and visual disturbance, associated with reversible white matter changes.1 It has been commonly reported in patients with severe hypertension and pre-eclampsia. Here we report a case with nephrotic syndrome complicated by RPLS. PMID:24698681
Liu, Sheng-da; Shen, Qing-min; Lv, Chun-feng
Asperger syndrome hinders adaptation to developmental challenges during childhood and adolescence, particularly with regard to interpersonal relationships. Individuals with Asperger syndrome display lack of empathy and limited ability to understand social and emotional exchanges with other people. Individuals with Asperger syndrome are significantly exposed to the risk of suicidal behavior, especially during adolescence. The authors describe cases of suicidal behavior in two adolescent boys with Asperger syndrome.
Kocourkova, Jana; Dudova, Iva; Koutek, Jiri
Munchausen syndrome by proxy (MSBP) is a serious form of child abuse, which is characterized by a child with symptoms and signs of an illness that have been fabricated by the mother. Here, we present a case of MSBP, who at four months of age was brought to our hospital by her mother because of rectal bleeding. The patient underwent many invasive procedures until the diagnosis of MSBP was finally considered. The mother reported no rectal bleeding for almost a year, during follow-up at the well-child outpatient department. At 19 months of age, another episode of rectal bleeding occurred, when a bloody diaper was presented to the attending physicians. The blood group and DNA analysis of the blood in the diaper confirmed the diagnosis. The case was reported to the social services and the patient was placed in the custody of her father's sister. The mother is still undergoing treatment in our psychiatry department. PMID:12458811
Sahin, Figen; Kuruo?lu, Asli; I?ik, Ali Fuat; Karacan, Elvan; Beyazova, Ufuk
The opsoclonus–myoclonus syndrome is a pathological condition characterized mainly by involuntary myoclonic movements involving ocular, trunk and limb muscles associated with ataxia and other neurological signs.We describe the case of a 30-year-old woman who developed this syndrome 15days after anti-Rubella vaccination. This case suggests a possible autoimmune post-vaccinic etiopathogenesis of opsoclonus–myoclonus syndrome, rarely described in the literature.
F Lapenna; L Lochi; M de Mari; G Iliceto; P Lamberti
Streptococcal toxic shock syndrome (STSS) is the most severe form of invasive infections caused by group A streptococci. In this report, a 36-years-old man who was admitted to our clinic with the complaints of fever, rash, skin lesions, abdominal pain, weakness and anuria for 2 days, has been presented. His body temperature was 39.5 degrees C and blood pressure was 50/20 mmHg. In physical examination, diffuse erythematous rash on the body, cellulitis on left leg and foot, fungal lesions on the toes, and abdominal tenderness were noted. Laboratory results revealed a dramatic increase in leukocyte count, increased sedimentation rate, elevated blood urea nitrogen, cretinine, liver enzymes and bilirubin levels. Group A streptococci were isolated from the blood culture of the patient. Despite supportive (intravenous saline, dopamine) and antibiotic (clindamycin-ceftriaxone combination) therapies, adult respiratory distress syndrome has developed in two days, and he died on the third day. This case was presented to draw attention to STSS, which was a rare clinical entity with rapid progression to mortality despite aggressive medical therapy. PMID:14748269
Ozkurt, Zülal; Erol, Serpil; Ertek, Mustafa; Altoparlak, Ulkü; Ta?yaran, Mehmet A
In this case report we describe a rare case of right atrium myxoma that coexisted with antiphospholipid syndrome in a young woman. We describe the unusual findings and diagnostic challenges combined with a review of the literature. PMID:19818150
Pliakos, Christos; Alexiadou, Eleni; Metallidis, Symeon; Papavramidis, Theodossis S; Kapoulas, Stergios; Sapalidis, Konstantinos; Nikolaidis, Pavlos
SBS--sick building syndrome--is a set multi-organ symptoms related to long-term staying in "sick buildings". These are modern, energy saving, air tight buildings with reduced ventilation. As a result of such construction, harmful, air-borne substances issued by interior decoration materials, air-conditioning systems and working people are cumulated. The study presents three cases of allergic patients whose original allergic illnesses got aggravated as an effect of: 1) staying in a freshly redecorated room, 2) staying in a fully air-conditioned room, 3) long-term exposition to bacteria and fungi allergens developing in old, used up filters of a car air-condition system. PMID:10437400
We present a 9-year-old boy with history of perinatal asphyxia and neonatal seizures; who presented with delayed development of speech, with predominant dysarthria, dysphagia, and drooling of saliva and unable to protrude tongue along with delayed motor and mental milestones. He had complex partial seizures since last 3 years requiring multiple anti-epileptic drugs. He had dysarthria, nasal twang, and drooling of saliva with difficulty in chewing and swallowing. Hearing and understanding were normal. Bilateral trigemino-facio-linguo-pharyngeal palsy was noticed on voluntary movements with normal jaw jerk with preserved automatic and emotional motor movements. Electroencephalography revealed focal left fronto-temporal epileptiform discharges and brain imaging was suggestive of bilateral cortical and subcortical region encephalomalacia, predominantly involving bilateral opercular region. The clinical and neuroimaging features correspond to bilateral opercular syndrome which could have resulted from the perinatal insult in this case.
Desai, Soaham Dilip; Patel, Dipen; Bharani, Sheela; Kharod, Nikhil
Headshaking is a maturity onset condition with the most commonly reported clinical signs being 'flipping' of the nose, nose rubbing, snorting or sneezing, and acting like a bee is flying up the nostril. A questionnaire was completed by owners of 31 horses with headshaking syndrome. The history, time of onset, clinical presentation and treatment of this condition were reported. Headshaking appeared to be light-stimulated in approximately 60% of the horses. The condition is seasonal and recurring in the majority of horses. Treatment with cyproheptadine produced improvement of symptoms in 76% of cases. The clinical signs are suggested to be compatible with neuropathic pain producing itching, tingling or electric like sensations in the face and muzzle area of affected horses. PMID:10485000
Madigan, J E; Bell, S A
We present a 9-year-old boy with history of perinatal asphyxia and neonatal seizures; who presented with delayed development of speech, with predominant dysarthria, dysphagia, and drooling of saliva and unable to protrude tongue along with delayed motor and mental milestones. He had complex partial seizures since last 3 years requiring multiple anti-epileptic drugs. He had dysarthria, nasal twang, and drooling of saliva with difficulty in chewing and swallowing. Hearing and understanding were normal. Bilateral trigemino-facio-linguo-pharyngeal palsy was noticed on voluntary movements with normal jaw jerk with preserved automatic and emotional motor movements. Electroencephalography revealed focal left fronto-temporal epileptiform discharges and brain imaging was suggestive of bilateral cortical and subcortical region encephalomalacia, predominantly involving bilateral opercular region. The clinical and neuroimaging features correspond to bilateral opercular syndrome which could have resulted from the perinatal insult in this case. PMID:24082930
Desai, Soaham Dilip; Patel, Dipen; Bharani, Sheela; Kharod, Nikhil
Introduction Exploding head syndrome (EHS) is a rare parasomnia in which affected individuals awaken from sleep with the sensation of a loud bang. The etiology is unknown, but other conditions including primary and secondary headache disorders and nocturnal seizures need to be excluded. Case Presentation A 57-year-old Indian male presented with four separate episodes of awakening from sleep at night after hearing a flashing sound on the right side of his head over the last 2 years. These events were described ‘as if there are explosions in my head’. A neurologic examination, imaging studies, and a polysomnogram ensued, and the results led to the diagnosis of EHS. Conclusion EHS is a benign, uncommon, predominately nocturnal disorder that is self-limited. No treatment is generally required. Reassurance to the patient is often all that is needed.
Ganguly, Gautam; Mridha, Banshari; Khan, Asif; Rison, Richard Alan
A case of trichorhinophalangeal syndrome type I (Giedion's syndrome) is presented and discussed. Pathologic alterations, including oral and facial manifestations, and the clinical history of this unusual condition are described. The case is compared with others reported in the literature. PMID:9247947
Machuca, G; Martínez, F; Machuca, C; Bullón, P
The chronic Epstein-Barr virus syndrome is a poorly defined symptom complex characterized primarily by chronic or recurrent debilitating fatigue and various combinations of other symptoms, including sore throat, lymph node pain and tenderness, headache, myalgia, and arthralgias. Although the syndrome has received recent attention, and has been diagnosed in many patients, the chronic Epstein-Barr virus syndrome has not been defined
GARY P. HOLMES; JONATHAN E. KAPLAN; NELSON M. GANTZ; ANTHONY L KOMAROFF; LAWRENCE B. SCHONBERGER; STEPHEN E. STRAUS; JAMES F. JONES; RICHARD E. DUBOIS; CHARLOTTE CUNNINGHAM-RUNDLES; SAVITA PAHWA; GIOVANNA TOSATO; LEONARD S. ZEGANS; DAVID T. PURTILO; NATHANIEL BROWN; ROBERT T. SCHOOLEY; IRENA BRUS; Georgia Atlanta
Unexpected rapid maternal death after delivery due to HELLP syndrome is rarely encountered and may become the subject of forensic expertise. Unexpectedness, suddenness, and fulminant course of this syndrome as well as absence of classical signs of pre-eclampsia can confuse physicians and lead to diagnostic delay. A definitive post-mortem diagnosis of HELLP syndrome in questionable cases of maternal death should be based on accepted laboratory criteria and characteristic histopathological alterations. We present a case of acute postpartum HELLP syndrome complicated by disseminated intravascular coagulation and acute renal failure which caused rapid maternal death only 20 hours after a caesarean section following an uncomplicated pregnancy.
Antic, Vladimir; Kopitovic, Vesna; Popovic, Jasmina; Trenkic, Milan; Vacic, Nikola
The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearing loss. The need to perform a karyogram analysis in cases presenting with these features is emphasized.
Ozsu, Elif; Yesiltepe Mutlu, Gul; Bute Yuksel, Aysegul; Hatun, Sukru
Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. Magnetic resonance imaging showed demyelinating disease in one of these cases. Electrodiagnostic studies were normal in all cases. PMID:19918432
Moghaddam, Farid Rezaei; Safar, Farid; Asheghan, Mahsa; Soltani, Zahra Reza; Zade, Fatemeh Dehghani
Odontogenic keratocysts are very well documented in the literature. Multiple odontogenic keratocysts (OKCs) are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBCCS). It is linked with mutation in the PTCH gene (human homolog of the drosophila segment polarity gene, “patched”,). Partial expression of the gene may result in occurrence of only multiple recurring OKC without any associated systemic findings. A rare case of multiple odontogenic keratocysts unassociated with any syndrome is reported, so as to add to the growing number of such cases in the literature. The possibility of this case being a partial expression of the Gorlin-Goltz syndrome is discussed.
Kurdekar, Raghavendra S.; Prakash, Jeevan; Rana, A. S.; Kalra, Puneet
The yellow nail syndrome is a rare disorder characterized by the classic triad of yellow and dystrophic nails, lymphedema and pleural effusion. We report in this paper a case of yellow nail syndrome, presenting the classic triad of the disease, associated with an unusual lymph accumulation in the abdomen region. PMID:24937826
Papaiordanou, Francine; Epstein, Marina Gabrielle; Miyaoka, Mariana Yumi; Yang, Jeane Jeong Hoon; Pires, Mario Cezar
Catatonia as a clozapine withdrawal syndrome has not been documented. We report a case of excited catatonia with fever, autonomic instability, and delirium—a picture of malignant catatonia (lethal catatonia) after abrupt clozapine withdrawal. The use of conventional neuroleptics transformed the excited malignant catatonia into a stuporous state resembling neuroleptic malignant syndrome (NMS). Such a transformation of excited lethal catatonia into
Joseph W. Y. Lee; Stephen Robertson
In recent years the phenomenon of reverse twiddler's syndrome has been described, characterized by pulse generator manipulation resulting in lead advancement rather than retraction. We describe what we believe to be the first reported case of both classic and reverse twiddler's syndrome occurring simultaneously in a patient with a biventricular implantable cardioverter-defibrillator. PMID:23597673
Ahmed, Fozia Z; Luckie, Matthew; Goode, Grahame K
A case of Noonan's syndrome in a 6-year-old boy is presented in which xanthomas of the skin and tongue were an additional, not previously reported, finding. The other syndromal stigmata are essentially those reported by Noonan and others in the literature...
J. F. Nelson P. J. Tsaknis J. L. Konzelman
Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.
Cabuk, Gonca; Arpac?, Rabia; Baz, K?ymet; Katar, Demet
The yellow nail syndrome is a rare disorder characterized by the classic triad of yellow and dystrophic nails, lymphedema and pleural effusion. We report in this paper a case of yellow nail syndrome, presenting the classic triad of the disease, associated with an unusual lymph accumulation in the abdomen region.
Papaiordanou, Francine; Epstein, Marina Gabrielle; Miyaoka, Mariana Yumi; Yang, Jeane Jeong Hoon; Pires, Mario Cezar
Walker-Warburg syndrome is a very rare autosomal recessive disorder with congenital muscular dystrophy, brain malformations on the basis of a neuronal migration defect and ocular abnormalities. We report our experience in treating two cases of Walker-Warburg syndrome complicated by hydrocephalus with shunting and endoscopic techniques. PMID:20516736
Preuss, M; Heckmann, M; Stein, M; Nestler, U
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, aneurysmatic formation, and stenotic lesions in large and medium-size arteries. We present two cases of ATS diagnosed during cardiac examination for murmurs. The first was an 11-year-old boy who had an atypical facial appearance and hyperelasticity. He had a prior operation for inguinal hernia. Echocardiography showed aneurysmatic dilatation in the main pulmonary artery and peripheral stenotic lesions. Angiography and computed tomography angiography confirmed aneurysmatic formation in the main pulmonary artery and multiple stenotic lesions in peripheral arteries and showed elongation and tortuosity of the major branches of the aorta. Surgical reconstruction of the pulmonary arterial system was performed. The second was a 3-month-old girl with an atypical facial appearance, hyperelasticity, and marked hypotonia. The aortic arch could not be visualized during echocardiography. Angiographic examination showed mild bilateral stenosis of distal pulmonary arteries, elongation and tortuosity of the aortic arch and its main branches. PMID:21248461
Erdem, Abdullah; Erol, Nurdan; Zeybek, Cenap; Celebi, Ahmet
Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma.
Suman, Neelam; Kaur, Simrat; Kaur, Supreet; Sarangal, Vandana
The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS) and Alström syndrome (ALS). Reflecting the manifold requirements for cilia in signalling, sensation and motility, different ciliopathies exhibit common elements. The mouse has been used widely as a model organism for the study of ciliopathies. Although many mutant alleles have proved lethal, continued investigations have led to the development of better models. Here, we review current mouse models of a core set of ciliopathies, their utility and future prospects.
Norris, Dominic P.; Grimes, Daniel T.
Four cases of Carpal Tunnel syndrome during childhood are reported. Two of them are post traumatic cases; for one child, the syndrome was caused by hypertrophic cal six months after trauma. The other child has been operated because of a median and ulnar nerve deficit syndrome, which appeared one month after fracture. In the third observation, the authors have seen an abnormal muscle just in front of annular anterior ligament of the carpus during surgery. This muscle was assimilated to hypertrophic Palmaris Brevis muscle. In the last observation, the adolescent had a Poland syndrome with Sprengel malformation. In this paper, the authors point out clinical particularities due to musculo-tendinous malformation which can lead to Carpal Tunnel syndrome. PMID:2091841
Brax, P; Destuynder, O; Rigaud, P; Ridoux, P E; Gille, P
It is well-established that acute coronary syndromes occurs when thrombus formation from atheromatous plaques erode or rupture in the advanced stage of atherosclerotic process with severe reduction of coronary blood flow. Also, some conditions may trigger acute coronary syndrome even in the absence of prior cardiovascular disease, and with normal coronary vessels. One of the most important is Kounis syndrome, also known as "allergic angina" or "allergic myocardial infarction" in which the release of mediators during allergic insults has been incriminated to induce coronary artery spasm and/or atheromatous plaque erosion or rupture. The accurate incidence of Kounis syndrome is not known, but since it was described, many clinical cases have been reported, showing the occurence due to various allergens. Here we present two cases of most probable Kounis syndrome, first in patients after multiple stings by non-venomous insect called "black-fly". PMID:24551482
Davidovic, Goran; Iric-Cupic, Violeta; Zdravkovic, Vladimir; Milanov, Srdjan; Dimitrijevic, Aleksandra
Louis Edouard Octave Crouzon, a French neurologist, in 1912, described the hereditary syndrome of craniofacial synostosis in a mother and son. He described the triad as skull deformities, facial anamolies and exopthalmos now known as Crouzon syndrome (CS). CS accounts for about 4.8% of all cases of craniosynostosis. We report a case of CS in 4 year old girl with characteristic features of cranial deformity, maxillary hypoplasia, cleft palate and exopthalmos. PMID:23886724
Tanwar, R; Iyengar, A R; Nagesh, K S; Subhash, B V
This study analyzed sixteen cases which appeared to meet Dr. Richard Gardner's criteria for parental alienation syndrome as set forth in his 1987 book. These cases showed a wide diversity of characteristics but Gardner's criteria were useful in differentiati ng these cases from other post-divorce difficulties. Traditional interventions were ineffective in altering the alienation.
INTRODUCTION: We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. CASE PRESENTATION: A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she
Deepak Goyal; Dinesh K Yadav; Umesh Shukla; Sidharth K Sethi
Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced blisters, progressive poikiloderma and varying degrees of photosensitivity. In 2003, loss-of-function mutations were identified in the gene KIND1 mapped to chromosome 20p12.3. In this paper, we report Kindler syndrome in two children born to consanguineous parents presenting acral blistering, photosensitivity, poikiloderma, cutaneous atrophy and periodontitis. PMID:23044576
Mendes, Luciana; Nogueira, Lisiane; Vilasboas, Virginia; Talhari, Carolina; Talhari, Sinésio; Santos, Mônica
Pfeiffer syndrome is an autosomal dominant condition classically encompassing both craniosynostosis and digital abnormalities of the hands and feet. Individuals with Pfeiffer syndrome may have mutations within either fibroblast growth factor receptor 1 gene (FGFR1) or FGFR2. FGFR1 mutations often result in less severe craniofacial involvement and hand abnormalities. We report a four-generation family with an FGFR1 P252R mutation, who have typical hand and feet skeletal features of Pfeiffer syndrome without craniofacial involvement. This is the third family in the literature in which no family members have craniofacial features of Pfeiffer syndrome. The absence of craniosynostosis should not preclude the consideration of FGFR mutation analysis in cases in which digital features are characteristic of the craniosynostosis syndromes. PMID:16957473
Hackett, Anna; Rowe, Lindsay
Gerstmann-Sträussler-Scheinker syndrome (GSS syndrome) is a rare hereditary disorder caused by prion protein gene mutation. We present the case of a 31-year-old man, whose signs and symptoms gradually progressed from loss of attention while driving at onset to headache, dysarthria, night sweat, fatigue, and dysgraphia. Diffusion-weighted imaging (DWI) of the brain after admission showed high signal intensities in the bilateral caudate nuclei, bilateral thalami, and cerebral cortices that suggested transmissible spongiform encephalopathy. The patient was diagnosed with GSS syndrome on genetic study. Magnetic resonance (MR) imaging of the entire period of sickbed showed gradually changing signal intensities and cerebral atrophy. We present a series of images and discuss the reasons for the abnormal intensities in GSS syndrome that vary among reported cases. PMID:17510542
Irisawa, Momoko; Amanuma, Makoto; Kozawa, Eito; Kimura, Fumiko; Araki, Nobuo
Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive disorder that includes premature aging phenotype at birth. The condition is also known as a neonatal progeroid syndrome. Up to now only a few published case reports have been documented. The syndrome is characterized by progeroid appearance, decreased subcutaneous fat, hypotrichosis, macrocephaly, and in some natal teeth. We describe a new patient with features of bilaterally pelvicalyceal ectasia and partial syndactyly on 2th and 3th toes, not previously described, to our knowledge. PMID:22585414
Kiraz, Aslihan; Ozen, Samim; Tubas, Filiz; Usta, Yusuf; Aldemir, Ozgur; Alanay, Yasemin
Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early in life, the distinctive craniofacial features in mild de Lange syndrome may be indistinguishable from the severe (classical) phenotype. We present here a case of newborn with CdLs.
Uzun, Hakan; Senses, Dursun Ali; Uluba, Munevver; Kocabay, Kenan
The supracondylar process is a congenital bone projection on the distal anteromedial humerus often associated with a ligament of Struthers, a fibrous connection between the process and medial epicondyle. It is largely asymptomatic and only on rare occasions presents with neurovascular compression resulting in a supracondylar process syndrome. This case report describes a 28-year-old woman with supracondylar process syndrome, and our management. The topic is further explored with a literature review of 43 reported cases. Analysis of the case reports indicates that isolated median nerve injuries are the most common. Other presentations such as fractures, vascular compromise, and ulnar nerve involvement are less frequent. PMID:24862112
Opanova, Maria I; Atkinson, Robert E
Parry-Romberg syndrome (PRS) is a rare condition characterised by progressive hemi-facial atrophy. Here we present a PRS case with alien-hand syndrome, which has not previously been described in adult onset disease. On the basis of the presumed auto-immune pathology of PRS we justify the treatment strategy we successfully used in this patient. A review of the literature was extensively done for understanding the history of alien hand sign over the years. PMID:24793509
Chokar, Gurjit; Cerase, Alfonso; Gough, Andrew; Hasan, Sibte; Scullion, David; El-Sayeh, Hany; Buccoliero, Rosaria
Hyperimmunoglobulin M syndrome is a rare primary immunodeficiency disorder. We report a case of a 6-month- old boy who suffered from developmental delays, frequent respiratory tract infection, and unusual fungal and bacterial infection. X-linked hyperimmunoglobulin M syndrome was ultimately diagnosed with decreasing immunoglobulin-G, A, and E (immunoglobulin G = 51.3 mg\\/dL, immunoglobulin A = 8.32 mg\\/dL, immunoglobulin E <17.5 mg\\/dL),
I-Jen Wang; Shiuan-Jenn Wang; Dah-Chin Yan; Syh-Jae Lin; Bor-Luen Chiang
Nutcracker syndrome is a rare cause of hematuria due to compression of renal vein between the aorta and the superior mesenteric artery. This phenomenon results in renal venous hypertension and unilateral hematuria. We report a typical case of nutcracker syndrome in a male 18 year old with a characteristic clinical picture. The diagnosis was finally established by constrated computed tomography studies. We review the literature that explains this pathology. PMID:23282270
Guerrero-Sánchez, Verónica; Hernández-Hernández, Jorge Luis; García-Montero, Adriana
Berdon syndrome is a rare congenital malformation that consists in megacystis and severe intestinal malformations that condition the prognosis in most of the cases. We report the three cases diagnosticated between 1976-2003. Diagnosis, therapeutics aspects and evolution are discussed. PMID:15264686
Beltrán Armada, J R; Serrano Durbá, A; Coronel Sánchez, B; Domínguez Hinarejos, C; Estornell Moragues, F; García Ibarra, F
OBJECTIVES: To establish consensus case definitions for several common work related upper limb pain syndromes for use in surveillance or studies of the aetiology of these conditions. METHODS: A group of healthcare professionals from the disciplines interested in the prevention and management of upper limb disorders were recruited for a Delphi exercise. A questionnaire was used to establish case definitions
J. M. Harrington; J. T. Carter; L. Birrell; D. Gompertz
A prepubescent 11 year-old girl came to our attention for short stature. Auxological evaluation showed peculiar phenotype. In order to exclude Turner syndrome standard karyotype was performed with normal result. Because of anemia and selective deficiency of the erythroid lineage further investigations were performed and a diagnosis of Blackfan-Diamond anemia was made. PMID:24516945
Velletri, M R; Valenzise, M; Wasniewska, M; Arasi, S; Santisi, A; Romeo, M; Pitrolo, E; Santucci, S; Corica, D; Crisafulli, R; Zirilli, G
Ehlers Danlos syndrome (EDS) is a hereditary collagen disorder which primarily manifests in the skin and joints. Clinically, it is characterized by hyperelasticity of skin and joint hypermobility. This article has described a rare condition seen in a 10-year-old boy who was diagnosed with EDS, based on the clinical, radiographic and histological findings. PMID:24783151
Kaurani, Pragati; Marwah, Nikhil; Kaurani, Mayank; Padiyar, Narendra
A 29 year old male was admitted at the emergency room suffering from gradually worsening headache followed by nausea. In the hospital patient presented with lethargy, reduction of consciousness level and bilateral hypoacusis. Ophthalmic examination and fluorescein angio- graphy showed retinal vasculitis. This finding was crucial to the diag- nosis of Susac syndrome, a rare disease characterized by vasculopathy of
Francisco Azevedo Marquardt; Heriberto Pinto; Guimarăes Neto; Daniel Azevedo Marquardt
Susac's syndrome is a vasospastic disease resulting from bilateral microangiopathy of the brain, cochlea and retina. It is characterized by encephalopathy, bilateral sensorineural fluctuating hearing loss and visual loss. It is very uncommon and usually affects women during young adulthood. Since all three symptoms of the triad may not be present, the clinical diagnosis is difficult. Therefore, neuroimaging, particularly magnetic
Sevda Erer; Meral Boz; Ozlem Taskapilioglu; Bahattin Hakyemez; Berkant Kaderli; Mehmet Zarifoglu
In 20 children needing treatment for symptomatic sick sinus syndrome, the average age at presentation was 7.1 years and ranged from 9 months to 18 years. Symptoms were never precise but, in retrospect, 5 children had syncope, 7 had a rapid heart action, 6 had dyspnoea or tachypnoea, 2 had nonspecific chest pains, 2 had pale spells, and 1 had
D J Radford; T Izukawa
Purple urine bag syndrome (PUBS) was first reported in 1978. PUBS is rare, occurs predominantly in constipated women, chronically catheterized and associated with some bacterial urinary infections that produce sulphatase/phosphatase. The etiology is due to indigo (blue) and indirubin (red) or to their mixture that becomes purple. A chain reaction begins in the gastrointestinal tract with tryptophan as described in the article.
Ribeiro, Joaquim Palmeiro; Marcelino, Paulo; Marum, Susan; Fernandes, Ana Paula; Grilo, Ana
Ehlers Danlos syndrome (EDS) is a hereditary collagen disorder which primarily manifests in the skin and joints. Clinically, it is characterized by hyperelasticity of skin and joint hypermobility. This article has described a rare condition seen in a 10-year-old boy who was diagnosed with EDS, based on the clinical, radiographic and histological findings.
Kaurani, Pragati; Marwah, Nikhil; Kaurani, Mayank; Padiyar, Narendra
Background Proteus syndrome is a very rare condition with less than 100 confirmed cases reported worldwide. We report a case of Proteus syndrome in a two-year-old male who has hemophilia A comorbidity. Case Presentation A two-year-old male patient was admitted with the chief complaint of severe bleeding in mouth cavity after trauma for two weeks. At admission he was found to have petechiae on buccal mucosa and fecal discoloration due to GI bleeding. We noted multiple abnormalities in his musculoskeletal system and skin. He had lymph edema in left leg, hemihypertrophy, macrodactyly in both foots and macrocephaly. With the history of severe bleeding and recurrent blood product transfusion, we suspected a hemorrhagic disorder. The reduced level of Factor VIII activity confirmed the diagnosis of hemophilia A. Considering patient's various musculoskeletal abnormalities according to the diagnostic criteria and after ruling out similar disorders the diagnosis of Proteus syndrome was established. Conclusion Because of the variability of clinical features, Proteus syndrome can be confused with other disorders of multiple tissue overgrowth. Our case of Proteus syndrome, who had hemophilia A comorbidity outlines the challenges in diagnosis of such rare combination of diseases.
Hashemieh, Mozhgan; Mansoori, Bahar; Tavakoli, Reza; Sheibani, Koroush
Background: Hyper IgE syndrome (HIES) is a rare primary immune deficiency, described as Job`s syndrome characterized by increased serum levels of IgE, eczema, recurrent cutaneous and pulmonary infections. In this paper, we presented a case of Hyper IgE syndrome. Case Presentation: A 16-year-old Iranian boy presented with a one year history of skin lesions in knees and elbows was diagnosed of psoriasis disease. He had a history of recurrent infections including otitis media, pneumonia, diarrea and skin infection. Laboratory results showed increased level of total IgE and normal in other immunoglobulin. Histologic finding showed hyperkeratosis, parakeratosis of acanthotic epidermis with regular elongation of rete ridges diagnose psoriasis disorder. Conclusion: In conclusion, this is the first case of hyper IgE patient with psoriasis disorder. We addressed the important laboratory findings and actual theories explaining possible association between hyper IgE immunoglobulinemia and psoriasis disorder.
Ghaffari, Javad; Abedian- Kenari, Saeed; Ghasemi, Maryam; Gohardehi, Farzad
Stiff person syndrome (SPS) is the rare disease and cause great inefficient. It is characterized by progressive stiffness muscles of trunk and the limbs on which the cramps of muscles overlap. In the electrophysiological investigation of the patients the involuntary discharge of motor unit potentials find and also simultaneous contraction agonistic and antagonistic muscles. SPS is presented with insulin-dependent diabetes mellitus often or is the symptom of the paraneoplastic syndrome. It is commonly associated with high anti-glutamic acid decarboxylaze (GAD) antibody titters in the serum of the blood of patients. Establishing the diagnosis can cause difficulties. We observed the patient in the last period about the atypical course the disease. The diagnosis was confirmed occurrences of the high titters of antibodies anti-GAD, the discharge of motor unit potential in paraspinal muscles in the rest and good response the treatment with diazepamem. PMID:24645574
Tomczykiewicz, Kazimierz; Pastuszak, Zanna; Staszewski, Jacek; Stepie?, Adam
Here, we report two extraordinarily severe cases of Teacher Collins syndrome. Initially, amniotic bands and plical fold disruption were considered, but downslanting eyes made us consider severe Treacher Collins syndrome. A TCOF1 mutation in exon 24 was identified in Patient 1 (c.4355_4356ins14, resulting in p.1456Thrfs*18). Patient 2, who expired on day 4, is so similar to Patient 1 that severe Treacher Collins syndrome may be inferred in this instance. Neither the TCOF1 mutation nor the well-known variability in the expression in affected families with Treacher Collins syndrome (?40% of reported cases) can explain the severity of these cases; otherwise, we would be aware of such cases within families from time to time. We are unaware of any recent sporadic cases (?60% of reported cases) exactly like ours either with a single exception in the case reported by Writzl et al.  with a TCOF1 mutation. The case described by Otto in 1841 is spectacular. We propose several hypotheses to be considered in explaining this developmental amplification, including some promoter effect on the gene, some position effect on the gene, a polymorphism elsewhere in the gene, a point mutation elsewhere in the gene, a polymorphism in another gene, or a point mutation in another gene, such as POLR1C (which maps to 6p21.1) or POLR1D (which maps to13q12.2). We also review the etiology and pathogenesis of Treacher Collins syndrome, and discuss several other severe cases from the past. PMID:23401420
Bauer, Mislen; Saldarriaga, Wilmar; Wolfe, S Anthony; Beckwith, J Bruce; Frias, Jaime L; Cohen, M Michael
We present the neuropathological data of a 49-year-old patient with a history of Werner syndrome: The main features were arteriosclerosis of the small intracerebral arteries, cerebral atrophy and vascular myelopathy. In addition, there were marked lipofuscin deposition and corpora amylacea, but no neurofibrillary tangles or plaques. In comparison with pathological findings in other organ systems, the central nervous system shows mainly degenerative pathology in this disease. PMID:2743651
Haustein, J; Pawlas, U; Cervos-Navarro, J
The nosological conception of Ganser syndrome (GS) has evolved as the hysterical etiopathogenesis has been examined against psychosis, malingering, factitious disorders and/or organic lesions. Few articles and little scientific research and theory are available supporting the complicated diagnosis of GS. The similarities and differences between GS and factitious disorders and malingering are examined in depth here. More publications are needed on GS to clarify its nature and investigate its treatment and uncertain prognosis. PMID:22723135
Jiménez Gómez, Belén; Quintero, Javier
Purple urine bag syndrome (PUBS) was first reported in 1978. PUBS is rare, occurs predominantly in constipated women, chronically catheterized and associated with some bacterial urinary infections that produce sulphatase/phosphatase. The etiology is due to indigo (blue) and indirubin (red) or to their mixture that becomes purple. A chain reaction begins in the gastrointestinal tract with tryptophan as described in the article. PMID:15153241
Ribeiro, Joaquim Palmeiro; Marcelino, Paulo; Marum, Susan; Fernandes, Ana Paula; Grilo, Ana
Weill Marchesani syndrome is a congenital disease that combines microspherophakia and skeletal abnormalities. The authors report a 19-year-old male, born of a consanguineous marriage, with a progressive decrease in visual acuity. The general examination showed a squat look, dwarfism, muscle hypertrophy, short hands and feet, and joint stiffness. The ophthalmological examination showed that visual acuity was limited to hand motion in the right eye despite correction and no perception of light in the left eye. Intraocular pressure was 36 mmHg in the right eye and 40 mmHg in the left eye. The anterior chamber was irregular with iridophakodonesis and microspherophakia of both lenses. The zonula was partially ruptured in the right eye. The iridocorneal angle was narrow. Fundus eye examination showed a pale optic disc with an excavation of 9/10 on the right. In the left eye, the optic disc was totally excavated. Cardiovascular check-up revealed rheumatic aortic valvular cardiopathy. The therapy consisted of combined surgery: phakophagia with anterior vitrectomy plus trabeculectomy operated on the right eye. Weill Marchesani syndrome is a rare congenital affection with a recessive autosomal transmission. The visual prognosis is dominated by secondary glaucoma due to pupillary blockage by the mobile eye lens. This observation illustrates the seriousness of spontaneous progression in Weill Marchesani syndrome, justifying the necessity of lens extraction before the onset of complications. PMID:11912838
el Kettani, A; Hamdani, M; Rais, L; el Belhadji, M; Rachid, R; Laouissi, N; Zaghloul, K; Amraoui, A
Introduction Paraneoplastic glomerulopathies are rare manifestations of neoplastic disease to be distinguished from iatrogenic renal damage. Solid tumors are preferentially associated with membranous nephropathy, whereas Hodgkin's lymphomas are associated with minimal change disease. Case presentation We report a 63-year-old Caucasian male diagnosed with a mesothelioma of the tunica vaginalis testis who, secondary to this, also presented with a nephrotic syndrome due to minimal change disease. In the present case, the paraneoplastic etiology of the nephrotic syndrome can be discussed on four unusual elements: minimal change lesions were found; the glomerulopathy was very sensitive to corticosteroids; the nephrotic syndrome occurred 11 months after the diagnosis of the primary malignancy, but concomitantly with the recurrence; and the nephrotic syndrome did not decrease with tumor control and did not recur when the mesothelioma escaped treatment. No other etiologies could nevertheless explain this phenomenon. Conclusion Paraneoplastic nephrotic syndrome is often associated with membranous nephropathy in patients with solid tumors, especially in patients with lung and gastrointestinal tract neoplasia. The management of these patients is associated with a symptomatic treatment such as sodium and water restriction, diuretics and ACE inhibitors and a prophylaxis of specific complications of nephrotic syndrome including thromboembolism, infections and lipid abnormalities. Treatment of neoplasia must be undertaken rapidly, treatments must be regularly analyzed and drugs binding to albumin may be used with precaution.
Lemierre's syndrome is a rare disorder of young adults caused by the anaerobic bacterium, Fusobacterium necrophorum and occasionally by other Fusobacterium species (F. nucleatum, F. mortiferum and F. varium etc). The condition is characterized by a primary oropharyngeal infection with evidence of septic thrombophlebitis, exhibited by positive blood cultures, clinical or radiographic evidence of internal jugular vein thrombosis, and at least one metastatic focus. The incidence of Lemierre's syndrome is reported to be nearly one in a million. In the pre-antibiotic era, Lemierre's syndrome followed a fulminant, often fatal course. During the 1960s and 1970s, the syndrome was rarely reported when penicillin was commonly prescribed to treat oropharyngeal infections. Today, antibiotic-resistant organisms are a major concern, thus causing more prudent prescribing of antibiotics. We present a case report of a 27-year-old man with worsening pharyngitis, which illustrates that subsequent reemergence of this often forgotten disease may become more common in clinical setting.
Alagille syndrome is a rare autosomal dominant disorder with characteristic findings of paucity of intrahepatic bile ducts, congenital heart disease, and vertebral, ocular, and renal abnormalities. We present a unique autopsy case of an 18-year-old female with Alagille syndrome and splenic hamartomas. Autopsy findings included growth restriction, Tetralogy of Fallot, paucity of intrahepatic bile ducts, end-stage renal disease with mesangiolipidosis, and splenomegaly with two well-circumscribed, splenic tumors. Histologic findings of the splenic tumors revealed disorganized vascular channels lined by cells without cytologic atypia. Immunohistochemical analysis demonstrated CD8(+)CD31(+) endothelial cells, consistent with splenic hamartomas. In summary, Alagille syndrome is a rare genetic disorder characterized by JAG1 mutations and disrupted Notch signaling. Review of the literature highlights the importance of Notch signaling in vascular development and disorders. However, to our knowledge this is the first description of splenic hamartomas in Alagille syndrome. PMID:24865822
James, Aaron W; Nguyen, Alan; Said, Jonathan; Genshaft, Scott; Lassman, Charles R; Teitell, Michael
Gestational diabetes insipidus is a rare, but well recognized, complication of pregnancy. It is related to excess vasopressinase enzyme activity which is metabolized in the liver. A high index of suspicion of gestational diabetes insipidus is required in a correct clinical setting especially in the presence of other risk factors such as preeclampsia, HELLP syndrome, and twin pregnancies. We are presenting a case of gestational diabetes insipidus in a patient with HELLP syndrome. The newborn in this case also had hypernatremia thereby raising possibilities of vasopressinase crossing the placenta.
Gambito, Renela; Chan, Michael; Sheta, Mohamed; Ramirez-Arao, Precious; Gurm, Harmeet; Tunkel, Allan; Nivera, Noel
Goltz syndrome is a rare multisystem disorder with cutaneous, ocular, dental and skeletal abnormalities. Other mesoectodermal abnormalities are also present. Its hallmark is thinning of the dermis resulting subcutaneous fat herniation. The present case is a 5 year old girl having linear skin atrophy with fat herniation, skeletal abnormalities in the form of polysyndactyly, facial asymmetry, squint with coloboma iris, deformed pinna, abnormal dentition, umbilical hernia along with osteopathia striata of long bones which is consistent with Goltz syndrome. We are presenting this case due to its rarity.
Bharani, Sheela; Thakkar, Sejal
Introduction Oncocytic neoplasms occur in several organs and are most commonly found in the thyroid, kidneys and salivary glands. Oncocytic neoplasms of the adrenal cortex are extremely rare and are usually non-functioning. Case presentation We report the case of an adrenocortical oncocytic neoplasm with uncertain malignant potential in a 31-year-old man with Cushing's syndrome. The patient had been operated on following diagnosis of a 7 cm adrenal mass. Following surgery, the Cushing's syndrome resolved. The patient is still alive with no metastases one year after the surgery. Conclusion Adrenocortical oncocytic neoplasms must be considered in the differential diagnosis of both functioning and non-functioning adrenal masses.
Kabayegit, Ozlem Yersal; Soysal, Dilek; Oruk, Gonca; Ustaoglu, Bahar; Kosan, Umut; Solmaz, Serife; Avci, Arzu
We are reporting a rare case of McKusick- Kaufman Syndrome in a ten-month old female infant from Addis Ababa with difficulty of urination often days duration. Clinical exam revealed supra-pubic mass with tenderness and had left hand postaxial polydactily. Ultrasound and CT scans showed the mass to be hydrometrocolpos posterior to the bladder. Intravenous urography revealed a lower abdomen-pelvic mass displacing and compressing the ureters with bilateral hydronephrosis. Further pelvic exam under anaesthesia revealed hydrometrocolpos with vaginal agenesis. This, to the best knowledge of the authors, is the first ever reported case of the syndrome in Ethiopia. PMID:21991762
Zewdneh, Daniel; Shewarega, Zelalem
Summary: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient’s life under threat.
FINI, G.; BELLI, E.; MICI, E.; VIRCIGLIO, P.; MORICCA, L.M.; D'ITRI, L.; LEONARDI, A.; MALAVENDA, M.S.; KRIZZUK, D.; MEROLA, R.; MATURO, A.; PASTA, V.
Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient's life under threat. PMID:23837959
Fini, G; Belli, E; Mici, E; Virciglio, P; Moricca, L M; D'Itri, L; Leonardi, A; Malavenda, M S; Krizzuk, D; Merola, R; Maturo, A; Pasta, V
Loin pain hematuria syndrome (LPHS) is a rare condition manifested by flank pain, hematuria, and occasional low-grade fevers. Usually there are no physical findings other than hematuria. Although numerous etiological theories exist, the pathophysiology of LPHS is unknown and diagnosis remains one of exclusion. Renal autotransplantation has been suggested as an effective procedure to control the severe and debilitating pain. However, pain often recurs in the long term. This paper reviews our experiences with the diagnosis and management of this condition. PMID:14959511
Pukenas, Bryan A; Zaslau, Stanley
Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome.
Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. Here, we report a case of 58-year-old man from Ardabil who presented with seizure due to hypocalcemia. Further history revealed bilateral deafness. Audiogram confirmed sensorineural hearing loss of both sides. His laboratory data were consistent with hypoparathyroidism and renal failure. He was diagnosed to have Barakat syndrome based on his clinical and laboratory data. In conclusion, we need to be aware of rare inherited conditions in a patient with abnormal physical and laboratory findings even though their initial presentation was seizure and hypocalcemia. PMID:24527244
Maleki, Nasrollah; Bashardoust, Bahman; Iranparvar Alamdari, Manouchehr; Tavosi, Zahra
Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. Here, we report a case of 58-year-old man from Ardabil who presented with seizure due to hypocalcemia. Further history revealed bilateral deafness. Audiogram confirmed sensorineural hearing loss of both sides. His laboratory data were consistent with hypoparathyroidism and renal failure. He was diagnosed to have Barakat syndrome based on his clinical and laboratory data. In conclusion, we need to be aware of rare inherited conditions in a patient with abnormal physical and laboratory findings even though their initial presentation was seizure and hypocalcemia.
Bashardoust, Bahman; Iranparvar Alamdari, Manouchehr; Tavosi, Zahra
Lemierre's syndrome is an uncommon complication of pharyngitis commonly associated with an anaerobic gram negative bacterium, Fusobacterium necrophorum. The syndrome usually affects young healthy adults with the mean age of 20 and is characterized by recent pharyngitis followed by ipsilateral internal jugular vein thrombosis and septic thromboembolism. The treatment is at least 6 weeks of antibiotics; the role of anticoagulation is unclear. The following presentation is a case of Lemierre's syndrome in a 23-year-old healthy individual who is infected by a rare species: Fusobacterium nucleatum. The case is complicated by septic emboli to the lungs and impressive seeding vegetation to the right ventricular outflow tract (RVOT) at the pulmonic valve of the heart. PMID:23573433
Kwan, Clara; Mastrine, Lou; Moskovits, Manfred
A five-year-old girl of Aicardi syndrome showed moderate psychomotor retardation. She could walk and communicate. At six months of age, she developed salaam convulsion with series. Convulsions disappeared immediately after ACTH treatment. At eighteen months of age, she developed myoclonic seizures. From three years of age, head-nodding seizures with series relapsed and could not be controlled. But she could walk alone at two years old and speak a word at one and half years old. A degree of her psychomotor retardation was more slightly than others published cases of Aicardi syndrome. There were eleven reports, included our case, with mild retardation in Aicardi syndrome. The features of these are 1) late onset of seizures, 2) good response to ACTH therapy, 3) no significant abnormalities of brain except for agenesis of corpus callosum. PMID:2169275
Abe, K; Mitsudome, A; Ogata, H; Ohfu, M; Takakusaki, M
The present study reports a rare case of synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome in an adult male. The 42-year-old man complained of skin lesions, chest pain and lumbago. Laboratory evaluations demonstrated an elevated erythrocyte sedimentation rate and increased levels of C-reactive protein. Computerized tomography, bone scintigraphy and magnetic resonance imaging revealed multiple bone lesions. A diagnosis of SAPHO syndrome was made. Non-steroidal anti-inflammatory drugs, alendronate sodium and steroids were administered, which resulted in clinical improvement. The current case study demonstrates that skin manifestation and multiple imaging modalities are important in generating a definite diagnosis of SAPHO syndrome, and that early treatment is vital for a positive outcome.
SONG, XINGHUA; SUN, WENWEN; MENG, ZHAOWEI; GONG, LU; TAN, JIAN; JIA, QIANG; YU, CHUNSHUI; YU, TIELIAN
Two patients suffering from SUNCT syndrome are presented. Some features are remarkable. The first patient was a 69-year-old man whose first crisis was located in the right supraorbital region. After a 4-month spontaneous remission, the pain returned to the upper part of the cheek, radiating to the supraciliary region on the same side, with lacrimation and conjunctival injection. Rhinorrhea was absent. The painful attacks were triggered by head movements. Clinical improvement occurred with carbamazepine treatment. The second patient was a 48-year-old woman whose painful attacks lasted from 30 to 45 seconds followed by a burning sensation lasting 2 hours. Autonomic signs such as conjunctival injection, lacrimation, and edema and ipsilateral ptosis of the upper lid were rather marked. There was never any rhinorrhea. Her attacks were triggered by head and eye movements. She responded to the administration of corticosteroids and carbamazepine. According to these features, the two patients had SUNCT syndrome, and the positive carbamazepine response suggests a relationship with trigeminal neuralgia. PMID:9630790
Raimondi, E; Gardella, L
Introduction Sweet’s syndrome is an acute neutrophilic dermatosis characterized by a diffuse dermal infiltrate of mature neutrophils. In most cases, it occurs as an isolated phenomenon (idiopathic Sweet’s syndrome) but it can be drug induced or associated with a variety of underlying diseases such as infections, neoplasms, and chronic inflammatory diseases. The association between Sweet’s syndrome and ankylosing spondylitis is rare. Only a few cases have been reported in the literature. We report a new case in which we describe an outbreak of acute neutrophilic dermatosis revealing ankylosing spondylitis. Case presentation A 33-year-old Moroccan man presented with large-joint polyarthralgia, inflammatory pain in his buttocks and lower lumbar spine, fever and skin lesions. On examination, the patient had a low-grade fever, six tender but not swollen joints, limitation of motion of the lumbar spine, and painful erythematous maculopapules over his face, neck, and hands. Laboratory tests showed hyperleukocytosis, and elevated erythrocyte sedimentation rate and C-reactive protein. The immunological tests and infectious disease markers were negative. Investigations for an underlying neoplastic disease remained negative. Magnetic resonance imaging showed a bilateral sacroiliitis. Skin biopsy findings were consistent with Sweet’s syndrome. The diagnosis of Sweet’s syndrome associated with ankylosing spondylitis was established. Nonsteroid anti-inflammatory drugs were started and the patient showed rapid clinical and biological improvement. Conclusion Three observations of the association between Sweet’s syndrome and spondylarthropathy have been reported in the literature. The cause of this association remains unclear. Some hypotheses have been developed, but further studies are needed to confirm or refute them.
The neuropathic origin of a case of unilateral burning mouth syndrome, previously diagnosed as psychogenic, was ascertained by intra-oral mucosa biopsy, which showed a severe sensory fibers damage, probably caused by maxillary anesthetic block and dental surgery. PMID:20807251
de Tommaso, Marina; Lavolpe, Vito; Di Venere, Daniela; Corsalini, Massimo; Vecchio, Eleonora; Favia, Gianfranco; Sardaro, Michele; Livrea, Paolo; Nolano, Maria
This case report describes the orthodontic management of a 10-year-old female with Silver-Russell syndrome by means of gradual expansion of the mandibular dental arch using removable appliances and subsequent comprehensive treatment of malocclusion by means of fixed appliances.
Ioannidou-Marathiotou, Ioulia; Sluzker, Ariel; Athanasiou, Athanasios E
Two cases are described of the de Lange syndrome in infant Chinese girls in Taiwan. One girl died at 34 days of age, and in addition to severe growth retardation, there were heart, lung, thymus, adrenal, kidney, and skeletal abnormalities. The second chil...
C. C. Huang I. Emanuel S. W. Huang T. Y. Chen
The Kluver-Bucy syndrome (KBS) is a neurobehavioral syn- drome and can be seen in association with a variety of neu- rological disorders. Case records of 6 patients with KBS seen during a period of 5 years in a university hospital were re- viewed. During the study period 6 patients with KBS, aged between 4 and 14 years, were seen. Hyperorality,
S. Jha; R. Patel
INTRODUCTION: Paraneoplastic glomerulopathies are rare manifestations of neoplastic disease to be distinguished from iatrogenic renal damage. Solid tumors are preferentially associated with membranous nephropathy, whereas Hodgkin's lymphomas are associated with minimal change disease. CASE PRESENTATION: We report a 63-year-old Caucasian male diagnosed with a mesothelioma of the tunica vaginalis testis who, secondary to this, also presented with a nephrotic syndrome
Justine Bacchetta; Dominique Ranchčre; Frédérique Dijoud; Jean-Pierre Droz
The so-called Tolosa-Hunt syndrome consists of painful ophthalmoplegia caused by chronic nonspecific inflammation of the cavernous sinus and\\/or superior orbital fissure, responsive to steroid therapy. We present a case with the unusual feature of sellar erosion, in which angiography. CT and MRI suggested this idiopathic condition.
A. Drevelengas; I. Kalaitzoglou; M. Tsolaki
Piriformis syndrome (PS) is an unusual cause of sciatica that, because of the lack of strict diagnostic criteria, remains a controversial clinical entity. The diagnosis of PS is still primarily clinical because no diagnostic tests have proven to be definitive. We report the case of a 30-year-old woman, affected by a severe scoliosis, who developed a persistent buttock pain resembling
Paolo Rossi; Patrizio Cardinali; Mariano Serrao; Leoluca Parisi; Federico Bianco; Sergio De Bac
A case of typical Turner's syndrome with short stature, broad chest with widely spaced nipple, prominent carrying angle, short metacarpels and absence of secondary sex characters is reported. The cytological observation showed sex chromatin negative and 45, XO chromosomal constitution. PMID:6466266
Mahtab, H; Akhtaruzzaman, M; Rezwan, S
The author describes a case of chronic exertional compartment syndrome of the foot affecting a 19-year-old male triathlete. Relevant anatomy, subjective symptoms, and clinical examination are discussed. Diagnostic confirmation, as achieved with compartment-pressure testing, is also presented, as is surgical treatment through decompressive fasciotomy of the affected compartment. PMID:9458629
Mollica, M B
This case report describes a forty-two-year-old man with no previous psychiatric history who developed delusional jealousy (Othello Syndrome) associated with ropinirole treatment. Ropinirole is a commonly used dopamine receptor agonist, which was being used to treat his Parkinson's disease, and his delusional symptoms resolved entirely with ropinirole dose reduction. PMID:22953148
Pal, Kakali; Smith, Abigail; Hayes, Joseph; Chakraborty, Apu
Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect. PMID:22639003
von Elten, Kelley; Sawyer, Taylor; Lentz-Kapua, Sarah; Kanis, Adam; Studer, Matthew
A patient was seen on the palliative care service at our institution who developed serotonin syndrome and mutism associated with methadone use. Serotonin syndrome is often described as a clinical triad of mental status changes, autonomic hyperactivity, and neuromuscular abnormalities, but not all of these findings are consistently present in all patients with the disorder. The incidence of the serotonin syndrome is thought to mirror the increasing number of proserotonergic agents being used in clinical practice. In 2002, the Toxic Exposure Surveillance System, which receives case descriptions from office-based practices, inpatient settings, and emergency departments, reported 26,733 incidences of exposure to selective serotonin-reuptake inhibitors (SSRIs) that caused significant toxic effects in 7349 persons and resulted in 93 deaths. Serotonin syndrome is not an idiopathic drug reaction; it is a predictable consequence of excess serotonergic agonism of central nervous system (CNS) receptors and peripheral serotonergic receptors. The myriad of symptoms with which serotonin syndrome may present is compounded by the fact that more than 85% of physicians are unaware of serotonin syndrome as a clinical diagnosis. Other SSRIs such as fluoxetine and fluvoxamine have been shown to increase methadone plasma concentrations in dependent patients. Although the exact mechanism is unknown, there are several pathways via which a significant interaction could occur. This would include the effects methadone has on N-methyl-D-aspartate (NMDA) in addition to the impact of methadone on the cytochrome P450 enzyme system. The mainstay of treatment of serotonin syndrome is withdrawal of the offending agent and supportive care. These actions resulted in resolution of our patient's symptoms. Serotonin syndrome is becoming more common, and with the utilization of polypharmacy on many palliative care services should be considered as unifying differential diagnosis in the appropriate setting. PMID:17187532
Bush, Eric; Miller, Carol; Friedman, Irwin
A retrospective analysis of the clinical profile, endoscopic features and management of 22 children (age 18 months-18 years) diagnosed as solitary rectal ulcer syndrome is presented. The majority (81.8%) were ?8 years of age. Rectal bleeding was the presenting feature in all the children. Mucorrhea, constipation, tenesmus and rectal prolapse were observed in 77.3%, 63.6%, 59% and 13.6% children, respectively. Colonoscopy showed classical single rectal ulcer in 68.2% and multiple ulcers in 22.7%. Polypoidal and erosive lesions were documented in 4.5% each. The medical management comprised of bowel training and high fibre diet for all children. The other modalities included oral 5-amino salicylate (59%), sucralfate enema (4.5%) and rectal mesalamine in 9%. 64% children recovered and 13.6% had recurrence of symptoms. PMID:20453265
Suresh, N; Ganesh, R; Sathiyasekaran, Malathi
The aim of the study was to evaluate the demographic, clinical, and EEG characteristics of patients with Panayiotopoulos syndrome (PS) and the course of their illness. Thirty-eight patients followed up with a diagnosis of PS between January 2011 and December 2013 were evaluated. We found high rates of personal history of febrile convulsions, breath-holding spells, and family history of febrile convulsions, afebrile convulsion/epilepsy, migraine, and breath-holding spells. Seizures started before the age of eight in 87% of the patients, and the mean age at seizure onset was 4.6years. Seizures were sleep-related in 81.5%, and autonomic status was seen in a third of the patients. The number of seizures was between 2 and 10 in 66% of the patients. The most common symptoms were ictus emeticus, eye/head deviation, and altered consciousness. Rolandic features were seen in 26% of the patients, and visual symptoms in 5%. Multifocal epileptiform discharges on EEG were identified in 84% of the patients. Two or more antiepileptic drugs were required in only 13% of the patients. Evolution to electrical status epilepticus in sleep and Gastaut-type epilepsy were seen in patients with more than ten seizures. The high rates of febrile convulsions, afebrile convulsions/epilepsy, migraine, and breath-holding spells in the patients and families suggest the importance of genetic factors and, perhaps, a common pathogenesis. However, the high rates of febrile convulsions and breath-holding spells in patients can be related to a misdiagnosis because of the similar symptoms. Despite its disturbing symptoms, PS is a benign epileptic syndrome requiring multiple antiepileptic drug use only in a small proportion of patients. PMID:24840752
De?erliyurt, Aydan; Teber, Serap; Bekta?, Omer; Senkon, Gözde
Restless legs syndrome (RLS) is a common neurological disorder characterized by an irresistible urge to move. RLS has a general population incidence of between 5% and 10% and a familial rate as high as 77%. This case study examines the pathophysiology, diagnosis, and treatment along with the presentation of RLS in two members of a family with near-identical onset and treatment. Cases of familial RLS may be best directed toward similar treatment regimens. PMID:24217148
INTRODUCTION: Oncocytic neoplasms occur in several organs and are most commonly found in the thyroid, kidneys and salivary glands. Oncocytic neoplasms of the adrenal cortex are extremely rare and are usually non-functioning. CASE PRESENTATION: We report the case of an adrenocortical oncocytic neoplasm with uncertain malignant potential in a 31-year-old man with Cushing's syndrome. The patient had been operated on
Ozlem Yersal Kabayegit; Dilek Soysal; Gonca Oruk; Bahar Ustaoglu; Umut Kosan; Serife Solmaz; Arzu Avci
Gestational trophoblastic disease describes a number of gynaecological tumours that originate in the trophoblast layer, including hydatidiform mole (complete or partial), placental site trophoblastic tumour, choriocarcinoma and gestational trophoblastic neoplasia (GTN). Invasive moles are responsible for most cases of localized GTN. Two cases of GTN previously reported in the literature exhibited membranous glomerulonephritis (MGN). However, histologic examinations in our case did not reveal evidence of MGN. Clinical features and pathologic findings were consistent with minimal change disease associated with an invasive mole. In the present case, we observed complete remission of nephrotic syndrome following removal of the invasive mole. PMID:20237056
Yang, Jae Won; Choi, Seung Ok; Kim, Bi Ro; Kim, Young Sub; Yoo, Jong Myoung; Eom, Min Seob; Han, Byoung Geun
Hantavirus pulmonary syndrome (HPS) was first recognized as a severe respiratory illness transmitted through rodent excreta in the southwestern United States in 1993. As of November 1997, 175 cases have been reported in the United States. The mortality rate of this disease has been reported to be as high as 52% in the United States, and the majority of the cases (94%) involved adults. Twenty-one cases have been recognized in Canada. This paper describes the first Canadian paediatric case and discusses some of the clinical features of this disease.
Lee, Bonita E; Joffe, Ari R; Vaudry, Wendy
This article uses data from patients recruited using the 1994 case definition of chronic fatigue syndrome (CFS) to contrast those meeting criteria for the Myalgic Encephalomyelitis/chronic fatigue syndrome (ME/CFS) Canadian case definition with those that did not meet these criteria. The study also contrasts those meeting criteria for Myalgic Encephalomyelitis (ME) based on criteria from Ramsay and other theorists with those that did not meet the ME criteria. The ME/CFS case definition criteria identified a subset of patients with more functional impairments and physical, mental, and cognitive problems than the subset not meeting these criteria. The ME subset had more functional impairments, and more severe physical and cognitive symptoms than the subset not meeting ME criteria. When applied to a population meeting the 1994 CFS case definition, both ME/CFS and ME criteria appear to select a more severe subset of patients.
Jason, Leonard A.; Brown, Abigail; Clyne, Erin; Bartgis, Lindsey; Evans, Meredyth; Brown, Molly
The RS3P syndrome or remitting seronegative symmetrical synovitis with pitting oedema, was described in 1985 by McCarty. The description refers to a rheumatologic set of symptoms with an acute commence, with no erosive lesions, with seronegativity, affecting more frequently to elderly males and showing an excellent prognosis. These characteristics make it possible to difference from the rheumatoid arthritis and from the rheumatic polymyalgia. We present eleven cases which confirm the good prognosis already described, but we suggest the possibility of this syndrome could be a manifestation or the beginning of other possible diseases. PMID:11100535
Bruscas Izu, C; Medrano San Ildefonso, M; Simon, L
Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder most commonly seen in the Scandinavian population and characterized by congenital ichthyosis, mental retardation, and spastic diplegia or quadriplegia. We report a case of SLS in an 11-month-old girl of Lebanese and Mexican-Syrian ancestry who presented with ichthyosis, developmental delay, and spasticity. Results of an enzymatic assay and genomic DNA testing in cultured skin fibroblasts confirmed a homozygous C237Y mutation. These findings support the rich diversity of mutations associated with this syndrome. PMID:16903323
Alió, Alessandra B; Bird, Lynne M; McClellan, Scott D; Cunningham, Bari B
Interactions between the heart and kidneys have been labeled as the cardiorenal syndrome (CRS). Type-5 CRS describes a disease that simultaneously damages both organs. With severe infection, systemic inflammatory mediators (TNF-? and IL-1?) cause wide-spread endothelial dysfunction, cellular apoptosis, and depressed organ function. Impaired myocardial function promotes worsening renal function and vice versa, leading to a dangerous positive feedback loop. Influenza viruses cause both myocardial and kidney injury, presumably through an immune-mediated mechanism. Herein we present a lethal case of influenza, resulting in acute type V cardiorenal syndrome. PMID:24192807
Larsen, Timothy R; Kinni, Vijay; Zaks, Jeffery; David, Shukri; McCullough, Peter A
Three cases of de Lange's syndrome are described. This condition is characterized by generally severe mental retardation, reduced stature, mild microcephaly, hypertrichosis, various anomalies of hands and feet, and a peculiar facies. The most outstanding features of the latter are the low forehead, profuse, generally confluent eyebrows, abundant long eyelashes, eyes that frequently slant downwards and outwards in antimongoloid fashion, pug nose with prominent anteverted nostrils, increased distance between nose and vermilion border of upper lip, slight reduction in size of chin, and often abnormally low-placed ears. The etiology of de Lange's syndrome is at present unknown. ImagesFig. 1Fig. 2Fig. 3
The 49, XXXXY syndrome is a rare chromosomal disorder. The purpose of this paper was to present the case of a 9-year-old boy with this karyotype. The most remarkable skeletal and dental anomalies were the absence of 9 permanent teeth, taurodontism of the permanent first molars, and the conical shape of permanent maxillary lateral incisors. Third molars were not visualized. Cephalometric analysis revealed a well-positioned maxilla, a slightly protruding mandible, and retroclined mandibular incisors. The surgery and dental rehabilitation are described. Given the specific characteristics of this syndrome, it is important to reassess the patient's skeletal and dental development and promote good dental hygiene practices. PMID:18477435
Lia, Erica Negrini; Otero, Simone Auxiliadora Moraes; Ferraz, Marieta; Gonçalves, Lívia Patrícia Versiani
Waadernburg syndrome (WS) is an autosomal dominant disease clinically and genetically heterogeneous. It is characterized by non-progressive sensorineuronal hearing loss of variable degree and anomalous pigmentation (of the eyes, skin and stria vascularis of cochlear duct) caused by melanocytes absence. The syndrome is caused by mutations in genes that regulate the melanocytes differentiation from the neural crest during embriogenetic development. This study will review the literature on WS and explain more in detail the ocular findings in WS, while reporting new findings on two newly diagnosed cases. PMID:22555841
Salvatore, S; Carnevale, C; Infussi, R; Arrico, L; Mafrici, M; Plateroti, A M; Vingolo, E M
Purple urine bag syndrome (PUBS) is a medical syndrome in which there is purple discoloration of the urine of catheterized patients as well as discoloration of the collecting bag and the associated tubing. This rare condition, which mostly affects women, is generally associated with catheter-associated urinary tract infection, chronic constipation and alkaline urine. PUBS may be caused by sequential chemical reactions involving tryptophan from food in the gastrointestinal tract. The clinical course of PUBS is generally benign, and intensive treatment is not usually needed. We present 3 cases of this unusual and interesting phenomenon and a literature review. PMID:21612761
Kang, K-H; Jeong, K-H; Baik, S-K; Huh, W-Y; Lee, T-W; Ihm, C-G; Lee, S-H; Moon, J-Y
Partial deletion of the long arm of chromosome 13 results in 13q(-) syndrome, and phenotypes of affected patients vary widely. We describe an autopsy case of the sudden, unexpected death of a 17-year-old boy with 13q(-) syndrome. He had severe psychomotor retardation and had been receiving follow-up care. One day he was found dead in his house and autopsy was performed to elucidate the cause of death. Autopsy findings revealed lobulation anomalies of the lungs, hypoplasia of the adrenal and thyroid glands, and apituitarism due to hyperplasia of bone in the hypophyseal fossa. No other pathological lesions were observed. Chromosomal analysis confirmed interstitial deletion from the long arm of chromosome 13. Karyotype was 46,XY, del(13)(q14.3q32). We concluded that the patient died of multi-organ dysfunction due to apituitarism. Autopsy cases of 13q(-) syndrome are rare. Furthermore, lobulation anomalies and apituitarism associated with 13q(-) syndrome have not previously been described. This case report offers novel clues to elucidating critical regions of chromosome 13 associated with malformations of the lungs and pituitary gland. PMID:20110188
Kasuda, Shogo; Morimura, Yoshifumi; Kudo, Risa; Kawashima, Wataru; Tamaki, Shigehiro; Nakanishi, Mari; Hatake, Katsuhiko
A 23-month-old female was referred for hearing aid fitting after failing newborn hearing screening and being diagnosed with significant hearing loss through subsequent diagnostic testing. Auditory brainstem response (ABR) and behavioral testing revealed a moderate-to-severe bilateral mixed hearing loss. Prior to the hearing aid evaluation, tympanostomy tubes had been placed bilaterally with little or no apparent change in hearing sensitivity. Initial testing during the hearing aid fitting confirmed earlier findings, but abnormal middle ear results were observed, requiring referral for additional otologic management. Following medical clearance, binaural digital programmable hearing aids were fit using Desired Sensation Level parameters. Behavioral testing and probe microphone measures showed significant improvements in audibility. Decrease in hearing sensitivity was observed six months following hearing aid fitting. Radiological studies, ordered due to the mixed component and decreased hearing sensitivity, revealed large vestibular aqueduct syndrome (LVAS). Based on the diagnosis of LVAS, a cochlear implant was placed on the right ear; almost immediate speech-language gains were observed. PMID:16515134
Clark, Jackie L; Roeser, Ross J
Turner's syndrome also called as Ullrich Turner's syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature. Various anomalies result in a constellation of features, of which the most disturbing is primary amenorrhea due to gonadal dysgenesis. Hormone therapy in these patients can often result in successful menstruation, and scope for subsequent pregnancy because of anatomically normal uterus and vagina. Coexisting Mullerian agenesis in these patients can jeopardize the chances of future pregnancy as they have associated structural abnormalities of the uterus and vagina. We report a rare case of middle-aged female with Turner's syndrome and Mullerian agenesis having absent secondary sexual characters and missing uterus with incompletely formed vagina. PMID:24672170
Vaddadi, Suresh; Murthy, Ramana S V; Rahul, C H; Kumar, Vinod L
Rheumatoid arthritis was diagnosed in a 30-year-old woman with erythema nodosum and arthritic symptoms since 1994, and she was treated with anti-rheumatic agents. Mediastinal and bilateral hilar lymphadenopathy and abnormal pulmonary shadows were detected in 1996, and she was admitted to our hospital in 1997. We also recognized the elevation of ACE and lysozyme, and found granulomas in a transbronchial lung biopsy and an arthrosis synovia biopsy. From these findings, sarcoidosis was diagnosed. Sarcoidosis demonstrating erythema nodosum, arthritis, and bilateral hilar lymphadenopathy is called Löfgren's syndrome. In Caucasians, Löfgren's syndrome is frequently encountered, but it is rare in Japanese. Our case had coexisting arthrosis symptoms, and satisfied the diagnosis criteria of rheumatic arthritis. Therefore, the differential diagnosis was important. We emphasize that it is necessary to consider Löfgren's syndrome when diagnosing patients with rheumatic features, even in Japan. PMID:12772602
Niimi, Takashi; Sato, Shigeki; Sugiura, Yoshiki; Akita, Kenji; Maeda, Hiroyoshi; Ninomiya, Shigemitsu; Achiwa, Hiroyuki; Masui, Sonoko; Bessho, Yuji; Maeno, Ken; Naniwa, Taio; Kotsuka, Masanori; Morishita, Munehiko; Ueda, Ryuzo
Patients with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, microcephaly, and male genotype with ambiguous genitalia. The basis of the ambiguous genitalia in XLAG syndrome is not well-known. We report a case of the fourth child of healthy consanguineous parents who was presented to the hospital because of non-febrile seizures at 2 months of life. On physical examination, microcephaly, some dysmorphic face features, and ambiguous genitalia were determined. The cranial magnetic resonance imaging of the patient showed lissencephaly, agenesis of the corpus callosum, and enlarged ventricles. His karyotype was 46, XY. He had undetectable testosterone levels and elevated gonadotropins. Neither testicular tissue nor any testosterone response to human chorionic gonadotropin stimulation test was observed. These findings suggest that the hypogonadism in this patient with XLAG syndrome is primary hypogonadism due to gonadal agenesis or dysgenesis. PMID:23329764
Özdemir, Özmert M A; Ca?lar, Murat; Koçyi?it, Ali; Dündar, Nihal Olgaç; Sangün, Özlem; Dündar, Bumin
Sick sinus syndrome is a generalized abnormality of cardiac impulse formation that may be caused by extrinsic causes or by intrinsic disease of the sinus node making it unable to perform pace making function. It can be manifested for the first time in pregnancy. First case was diagnosed as sick sinus syndrome at 8 weeks of gestation having Mobitz type I heart block (Wenckebach block), and needed temporary pacemaker during caesarean section. Second case was diagnosed at 24 weeks of gestation having complete heart block and needed permanent pacemaker at 38 weeks of gestation due to exaggeration of the symptoms. Both the cases were dealt successfully by caesarean section under general anesthesia in close collaboration with cardiologists and anesthesiologists. PMID:23715370
Parveen, T; Begum, F; Akhter, N; Sharmin, F
We report the case of a 21-yr-old female with Turner syndrome associated with cerebral hemorrhage (CH). She was transferred to our hospital for loss of consciousness and was diagnosed with right putaminal hemorrhage. Following surgical removal of the hematoma, she regained consciousness, and her left hemiplegia gradually improved after surgery. Angiography revealed absence of vascular abnormality of the cerebral artery, aorta, and renal arteries. Hypertension was noted on arrival at the hospital and persisted after surgery. A slight hypertensive change was observed in her retinas. Plasma renin activity was elevated (20 ng/ml/h) and renovascular hypertension was suspected. In this patient, CH was suspected to have occurred due to hypertension. This case emphasizes the necessity to carefully monitor the blood pressure in Turner syndrome cases, even during childhood.
Okamoto, Shingo; Morimoto, Yukari; Reza, Mohammad Selim; Kohso, Hiroshi; Ishikawa, Masatoshi; Takano, Masato; Kurematsu, Yukako; Yamao, Jun-ichi; Fukui, Hiroshi
Two cases of late postoperative capsular block syndrome that occurred 4 and 8.5 years, respectively, were encountered. One case underwent phacoemulsification after continuous curvilinear capsulorhexis in his left eye. The other case had a can opener type capsulorhexis and underwent extracapsular cataract extraction with trabeculectomy. One-piece posterior chamber lenses were implanted in both cases. Upon slit-lamp examination, the posterior capsules were found distorted posteriorly; the capsular openings were apparently sealed by the lens optic. A whitish material existed between the intraocular lens optic and posterior capsule, with thick aggregation in a lower fifth space in case 1. After Nd:YAG laser anterior capsulotomy in case 1, the thick aggregate spread diffusely on the posterior capsule which was sunken completely for 4 weeks. After Nd:YAG capsulotomy, the distorted posterior capsule disappeared and the best corrected visual acuity was restored to 20/20 in both cases. PMID:10761406
Heo, J Y; Ahn, M D; Joo, C K
We report a case of serotonin syndrome in a patient being treated with paroxetine for depression. Despite prompt discontinuation of medication, his serotonin syndrome continued for 10 days before full consciousness was restored. The patient was a 48-year-old male with chief complaints of hypobulia and suicidal thoughts. He consulted as a psychiatric outpatient, and oral paroxetine 20 mg/day, etizolam 1.0 mg/day, and brotizolam 0.25 mg/day were immediately started. Upsurge of feeling and disinhibition state were noted the following day, then on treatment day 6 his condition deteriorated to substupor state and he was admitted for further treatment. On admission, change of mental condition (consciousness disturbance), perspiration, hyperreflexia, myoclonus and tremor were seen, and serotonin syndrome caused by paroxetine was suspected. Paroxetine was thus discontinued, and under intravenous drip his condition gradually improved. However, it was not until the 10th hospital day that he became fully alert. In examinations, no infectious, metabolic or organic diseases were detected. The patient's condition often improves with in 24 hours of discontinuation of the causative medication in serotonin syndrome. Symptoms continued for 10 days in this patient, however, perhaps because paroxetine was administered for 6 days before discontinuation. In addition, interaction with other medications may have occurred. Therefore, when serotonin syndrome is suspected, prompt discontinuation of the suspected causative medication, followed by close monitoring of the pharmacokinetics is warranted. PMID:15027311
Ochiai, Yusuke; Katsu, Hisatoshi; Okino, Shinji; Wakutsu, Noriyuki; Nakayama, Kazuhiko
Potocki-Lupski syndrome results from the duplication of chromosome 17 band p11.2. This is the first report of a case of Potocki-Lupski syndrome with teratologic dislocation of both hips. The diagnosis was made by chromosomal analysis. The association between Potocki-Lupski syndrome and musculoskeletal disorders may help elucidate the etiology and prognosis of the syndrome. PMID:22990438
Kuo, Chien-Chung; Chang, Chien-Chun; Hsu, Horng-Chaung; Lu, Tung-Wu; Tsai, Nien-Ying
Foster Kennedy syndrome is a very rare syndrome which includes ipsilateral optic atrophy and central scotoma, anosmia, contralateral papilledema, and, occasionally, ipsilateral proptosis. A large frontal lobe, olfactory groove, or medial third sphenoidal wing tumor, usually a meningioma, creates this syndrome. In this report, the author presents a case of metastastic cerebral tumor with Foster Kennedy syndrome but without frontal
The Duane syndrome is a strabismus syndrome which is characterized by congenital non-progressive horizontal ophthalmoplegia which primarily affects the abducens nerve. Approximately 70% of the individuals with the Duane syndrome have an isolated disease. We have described here, a case of bilateral Duane syndrome with associated anamolies.
Varma, Chaitanya; Aroor, Shrikiran; Mundkur, Suneel C; Annamalai, Karthick
The authors report a case of dark purple urine in a woman with bowel obstruction and bilateral percutaneous nephrostomy urinary diversion for 30 years. This colour was due to the presence of high urinary concentrations of 3-indoxyl sulphate due to the enzymatic activity of Providencia rettgeri. A favourable course was observed in response to antibiotics. PMID:17634003
Lazimy, Yaël; Delotte, Jérôme; Machiavello, Jean-Christophe; Lallement, Michel; Imbenotte, Michel; Bongain, André
Foreign accent syndrome is a rare dysprosody in which pronunciation of a patient's speech is perceived by same-language listeners as sounding foreign. Sixty cases have been described between 1941 and 2009. It is commonly associated with an acquired brain injury (vascular insult/head injury), but also with psychogenic illness and has been described in two cases as a developmental problem. Here we describe a case secondary to a minor electrocution associated with no evidence of structural brain injury on imaging. PMID:22871041
Mendis, Dulani; Haselden, Karen; Costello, Declan
Presentation of a case of crystalline macular distrophy diagnosed in a female patient with Sjögren-Larsson syndrome. The disease consists of clinical findings of spastic diplegia or tetraplegia, mental retardation, and congential ichthyosis. The eyes are affected in up to 100% of cases, and crystalline maculopathy is the main finding as described in this case report. On fundus examination multiple white dots were observed at ophthalmoscopy. The optical coherence tomography has shown not only the hipereflexive intraretinal spots but also macular atrophy with macular thickness reduction. The tomographic findings were first described in our country. PMID:19466337
Isaac, David Leonardo Cruvinel; Queiroz, Gustavo Henrique Medeiros; Feres, Caroline Campelo; Avila, Marcos
We report a case of Goodpasture's syndrome following chronic low level and an acute, high level of exposure to crystalline silica. A 38-year-old male tilesetter was admitted to the emergency room with dyspnea and respiratory failure. He reported that his symptoms had developed over the previous week after inhaling a large amount of dust while dry-sanding and sweeping a silica-based product used to fill cracks in a cement floor. Over the following days, his pulmonary function declined and he developed acute renal failure. Tests of antiglomerular basement membrane antibody were positive and renal biopsy revealed global glomerulonephritis. He was diagnosed with Goodpasture's syndrome and treated with steroids, plasmapheresis, and hemodialysis. This man had a history of childhood asthma and a remote, one pack-year history of cigarette use. He used the flooring product for seven years prior to the inciting event, however, previous jobs had utilized significantly smaller amounts. Goodpasture's syndrome and other autoimmune diseases have been reported in association with silica exposure. The acute onset following high level silica exposure in this previously healthy man, suggest that clinicians should investigate silica exposure as a causal factor in cases of Goodpasture's syndrome.
Dahlgren, James; Wardenburg, Marla; Peckham, Trevor
A case of lupus erythematosus/lichen planus overlap syndrome (LE/LP overlap syndrome) was reported. A 53-year-old woman developed violaceous erythema around the nostrils and the upper lips and atrophic scaly erythema on the cheeks and neck. Histopathological studies revealed that the patient had distinct discoid lupus erythematosus (DLE), LP, and a lesion with combined features of DLE and LP. Direct immunofluorescent (DIF) studies of the mixed lesion revealed both prominent immunoglobulin (Ig)G deposits in a granular pattern at the basement membrane zone (BMZ) and IgM deposits in the clusters of cytoid bodies; the former are more typical of LE and the latter more of LP. DIF features in combination were unique for LE/LP overlap syndrome. The patient was satisfactorily treated with topical tacrolimus. While reports support the effectiveness of tacrolimus in either LE or LP, this is the first case of LE/LP overlap syndrome treated with topical tacrolimus. PMID:16620224
Nagao, Kyoko; Chen, Ko-Ron
Piriformis syndrome is a rare cause of hip and foot pain which may be due to sciatic nerve irritation because of anatomic abnormalities of sciatic nerve and piriformis muscle or herniated disc, facet syndrome, trochanteric bursit, sacroiliac joint dysfunction, endometriosis and other conditions where sciatic nerve is irritated. There has been no reflex sympathetic dystrophy (RSD) case presented due to piriformis syndrome before. A sixty-two-year-old female patient had right foot and hip pain (VNS: 8), redness and swelling in the foot since 15 days. Her history revealed long walks and travelling 3 weeks ago and sitting on the foot for a long time for a couple of days. Physical examination revealed painful hip movement, positive straight leg rise. Erythema and hyperalgesia was present in dorsum of the right foot. Right foot dorsiflexion was weak and hyperesthesia was found in right L4-5 dermatome. Medical treatment and ultrasound treatment to piriformis muscle was not effective. The patient was injected 40 mg triamcinolon and local anesthetic in right piriformis muscle under floroscopy by diagnosis of piriformis syndrome, neuropathic pain and RSD. Pain and hyperalgesia resolved and motor weakness was better. During follow-up right foot redness resolved and pain decreased (VNS: 1). In this case report, there was vascular, muscle and skeletal signs supporting RSD, which shows us the therapoetic effect of diagnostic piriformis injection. The patient history, physical examination and diagnostic tests were evaluated by a multidisciplinary team which contributed to the treatment. PMID:19562536
Akçali, Didem; Ta?, Ayça; Cizmeci, Pelin; Oktar, Suna; Zinnuro?lu, Murat; Arslan, Emre; Köseo?lu, Hüseyin; Babacan, Avni
In this case report, we present the first diagnosed case of Galloway-Mowat syndrome in Iran. A 7 month old infant boy withmicrocephaly that had prominently stunted head growth afterbirth, gastroesophageal reflux, multiple craniofascial characters,hypothyroidism and nephrotic syndrome diagnosed at 5 monthsof age associated with rapid decline in renal function and heavyproteinuria in 2 months .
Malaki, Majid; Rafeey, Mandana
We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome. PMID:23807150
Chang, Joo Hyun; Park, Dong Ho; Shin, Jae Pil; Kim, In Taek
In this report the authors present a review of complex regional pain syndrome and two case reports of complex regional pain syndrome that were recalcitrant to the usual treatments. The first case presented is a middle-aged female who developed signs and symptoms of post-traumatic complex regional pain syndrome. The second case is a woman with a pre-existing history of complex regional pain syndrome whose condition worsened after surgery despite appropriate perioperative precautions. These cases are unique because in both cases an early diagnosis of complex regional pain syndrome was established, yet they were both resistant to the usual treatment protocols. PMID:11924684
Fox, I M; Domsky, R; Frank, M J
Cutaneous larva migrans (CML) is a frequent parasitic infestation caused by migration of animal hookworm larvae into the human epidermis. This skin disease is common in warmer climates among people, who have contact with contaminated soil. Clinical manifestation of CML is an itchy, erythematous, linear tract, which appears days to even months after exposure to infested sand or soil. Diagnosis is established on the clinical presentation. We describe a case of CML acquired during a holiday in Brazil. PMID:24278060
Tekely, Emilia; Szostakiewicz, Beata; Wawrzycki, Bart?omiej; K?dziela-Wypyska, Gra?yna; Juszkiewicz-Borowiec, Maria; Pietrzak, Aldona; Chodorowska, Gra?yna
Cutaneous larva migrans (CML) is a frequent parasitic infestation caused by migration of animal hookworm larvae into the human epidermis. This skin disease is common in warmer climates among people, who have contact with contaminated soil. Clinical manifestation of CML is an itchy, erythematous, linear tract, which appears days to even months after exposure to infested sand or soil. Diagnosis is established on the clinical presentation. We describe a case of CML acquired during a holiday in Brazil.
Szostakiewicz, Beata; Wawrzycki, Bartlomiej; Kadziela-Wypyska, Grazyna; Juszkiewicz-Borowiec, Maria; Pietrzak, Aldona; Chodorowska, Grazyna
We report a rare case of painful snapping of sartorius tendon on the anteromedial aspect of the knee associated with bursitis\\u000a and a very unusual anatomical variation of the saphenous nerve. This patient presented with swelling over the medial aspect\\u000a of the knee along with painful snapping sensation, which on real-time ultrasound was confirmed to be due to snapping of
Shiv Ashish Jain; Ali Mehr; Ashvin L. Pimpalnerkar
Background Severe fever with thrombocytopenia syndrome (SFTS) is an emerging infectious disease caused by a novel bunyavirus (SFTSV) in China. Humans of all ages living in endemic areas have high risk of acquiring SFTS. Most clinical data so far have been from adults and no clinical study was available from children yet. The present study identified four SFTSV infected children through hospital based surveillance. A prospective observational study was performed to obtain their clinical and laboratory characteristics. Case presentation The patients’ age ranged from 4–15 years old and two were male. On hospitalization, fever, malaise and gastrointestinal syndromes were the most commonly presenting symptoms. Hemorrhagic symptoms or neurological manifestation was not recorded in any of the four pediatric patients. Hematological abnormalities at admission into hospital included leucopenia (4 cases), thrombocytopenia (1 case) and bicytopenia (1 case). The abnormal parameters included elevated aminotransferase (1 case), alanine transaminase (2 case), and lactate dehydrogenase (3 case). Laboratory parameters indicative of renal damage was not observed during the hospitalization. All the patients recovered well without sequelae being observed. Conclusion Compared with adults, pediatric patients with SFTSV infection seem to have less vague subjective complaints and less aggressive clinical course. Thrombocytopenia is suggested to be used less rigorously in recognizing SFTSV infection in pediatric patients, especially at early phase of disease.
This is a case study presented by the University of Pittsburgh Department of Pathology in which a 64-year-old woman with a long history of IBS presents with a recent "exacerbation of diarrhea, increased abdominal cramping, and weight loss." Visitors are given both the gross and microscopic descriptions, including images, and are given the opportunity to diagnose the patient. This is an excellent resource for students in the health sciences to familiarize themselves with using patient history and laboratory results to diagnose disease. It is also a helpful site for educators to use to introduce or test student learning in gastrointestinal pathology.
Finkelstein, Sidney; Kulich, Scott
Parry Romberg syndrome is a rare disorder of unknown etiology, seen most commonly as an asymmetry of the face, rarely affecting the limbs. Trophic malfunction of sympathetic system has been proposed as a cause. The syndrome presents with characteristic skeletal, dental, and soft tissue changes in the affected half of the face, with or without neurological signs and symptoms. Imaging studies sometimes reveal lesions in the brain corresponding with the neurological defects. The disfiguring nature of the disease Results in psychological disturbance and communication disorders like speech defects, as also dental anomalies. The present article reports such a case of an 8-year-old girl who presented with mainly hard tissue changes, without neurological or intraoral soft tissue changes. There has to be prompt multi-disciplinary management of such cases keeping in mind development, aesthetics, speech, and masticatory function, along with symptomatic treatment of neurological deficits. PMID:23248475
Madasamy, Ramasamy; Jayanandan, Muruganandhan; Adhavan, Uma Revathy; Gopalakrishnan, Sivakumar; Mahendra, Lodd
Gitelman's syndrome (GS) is a rare disease with autosomal recessive trait, characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria and hyperkinemic hyperaldosteronism. While muscle weakness, tetany, stomachache, nausea and fever are very common, it could sometimes be completely asymptomatic as is the case in our patient. It is generally benign, but some severe complications like growth retardation and, though rare, paralysis and cardiac arrest could also be seen. A 57-year-old male patient sent to our hospital for further examination because of hypokalemia was diagnosed with GS as a result of clinical and laboratory assessments. Potassium and magnesium replacement was started. We are presenting our case seeing that GS is not a syndrome to be overlooked as it bears a risk of severe complications, although it might be asymptomatic until advanced ages. PMID:24021031
Koçkara, Ay?e ?eker; Candan, Ferhan; Hüzmeli, Can; Kayata?, Mansur; Alaygut, Demet
Myelodysplastic syndromes (MDS) are a group of refractory anemias resulting from a clonal stem cell disorder often associated with cytogenetic abnormalities. There is increasing recognition of immunological abnormalities in patients with MDS, including defective B- and T-cell function, hyper- or hypogammaglobulinemia and monoclonal gammopathy. MDS have been associated with Sjögren's syndrome, polymyalgia rheumatica, relapsing polychondritis and systemic lupus erythematosus. Although there may be various rheumatologic features, including acute arthritis in MDS, chronic inflammatory arthritis is uncommonly combined. There have been a few reports that described cases of rheumatoid arthritis (RA) concurrent with MDS, but advanced rheumatoid arthritis with typical joint deformities has rarely been reported. We report a case of rheumatoid arthritis with atlantoaxial subluxation combined with refractory anemia in a 31-year-old woman. PMID:10402176
Nam, E J; Kang, Y M; Kang, H R; Kim, J H; Rho, H J; Lee, M K; Hyun, S H; Kim, G W; Lee, J M; Kim, N S
Burning Mouth Syndrome (BMS) is defined as a chronic orofacial pain syndrome, without evidence of mucosal lesions and other clinical signs of disease or laboratory abnormalities. Patients with BMS complain of burning pain in the mouth, xerostomia and taste disturbances. It is more common among women and the median age of occurrence is about 60 years. BMS may be primary or secondary to other diseases. The mainstay in the treatment of BMS includes antidepressants, benzodiazepines, and anticonvulsants. A few cases of BMS caused due to medication have been reported. The causative drugs include angiotensin-converting enzyme inhibitors, anticoagulants, antipsychotics, antiretrovirals, and benzodiazepines. This is a case report of a patient on antidepressants who developed symptoms of BMS thereby causing a dilemma in management.
Puttaswamiah, Rajiv Nidasale; Birur, Praveen N; Ramaswamy, Bhanushree; Sunny, Sumsum P
Burning Mouth Syndrome (BMS) is defined as a chronic orofacial pain syndrome, without evidence of mucosal lesions and other clinical signs of disease or laboratory abnormalities. Patients with BMS complain of burning pain in the mouth, xerostomia and taste disturbances. It is more common among women and the median age of occurrence is about 60 years. BMS may be primary or secondary to other diseases. The mainstay in the treatment of BMS includes antidepressants, benzodiazepines, and anticonvulsants. A few cases of BMS caused due to medication have been reported. The causative drugs include angiotensin-converting enzyme inhibitors, anticoagulants, antipsychotics, antiretrovirals, and benzodiazepines. This is a case report of a patient on antidepressants who developed symptoms of BMS thereby causing a dilemma in management. PMID:25031818
Raghavan, Shubhasini Attavar; Puttaswamiah, Rajiv Nidasale; Birur, Praveen N; Ramaswamy, Bhanushree; Sunny, Sumsum P
The Oromandibular Limb Hypogenesis Syndromes (OLHS) comprises a spectrum of disorders involving the tongue, mandible, and the limbs and are characterized by hypoplastic mandible, absence of the lower incisors, hypoglossia, digits and limbs abnormalities ranges from syndactyly to amelia. In this report, we report a case of OLHS with growth hormone deficiency as a cause of short stature, which has not been described previously to the best of our knowledge.
Goyal, Manisha; Singh, Ankur; Singh, Pratiksha
Post Infarct cerebellar cognitive affective syndrome is a rare disorder, characterized by cognitive impairment in the domains of memory, language, visuo-spatial functioning and affect after cerebellar stroke. We report a case of young female who developed mood alteration and cognitive disturbance following isolated cerebellar infarct. We, therefore, advocate a potential role of cerebellum in regulation of cognition and behaviour in humans. PMID:18988420
Jawaid, Ali; Rauf, Muhammad Ameen; Usman, Uzma; Khealani, Bhojo A
Superior semicircular canal dehiscence syndrome is a clinical picture with sound and pressure-induced vertigo, autophony, hearing loss and a lowered bone conduction threshold. It is an important differential diagnosis to otosclerosis and patent eustachian tube. Diagnostic investigations include audiometric testing, nystagmus provocation, computed tomography and vestibular evoked myogenic potentials. Surgical repair of the dehiscence represents a curative therapeutic option. We describe the disease symptoms on the basis of a typical case. PMID:20734020
Rohrmeier, C; Hilber, H; Strutz, J
Crouzon syndrome, also called craniofacial dysostosis, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder characterized by premature closure of cranial sutures, midfacial hypoplasia, and orbital defects. Here, we report a case of this rare entity. The patient presented with brachycephaly, maxillary hypoplasia, exophthalmos, mandibular prognathism, along with dental and orbital abnormalities. PMID:23393627
Mohan, Raviprakash Sasankoti; Vemanna, Naveen Shanker; Verma, Sankalp; Agarwal, Neha
Crouzon syndrome, also called craniofacial dysostosis, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder characterized by premature closure of cranial sutures, midfacial hypoplasia, and orbital defects. Here, we report a case of this rare entity. The patient presented with brachycephaly, maxillary hypoplasia, exophthalmos, mandibular prognathism, along with dental and orbital abnormalities.
Mohan, Raviprakash Sasankoti; Vemanna, Naveen Shanker; Verma, Sankalp; Agarwal, Neha
Sacroiliac syndrome is characterized by buttock and lower limb pain that is associated with decreased mobility and tenderness of the sacroiliac joints. It can occur concomitantly with disorders of the lumbar spine and may go unrecognized until these other conditions are successfully treated. It may sometimes be associated with post-surgical immobilization of the spine and pelvis. A case is presented illustrating successful treatment by chiropractic manipulation. ImagesFigure 2Figure 3
Diakow, Peter R.P.; Cassidy, J. David; DeKorompay, Victor L.
Rett's syndrome (RS), a pervasive neurodevelopmental disorder, is being increasingly recognized all over the world, but there is paucity of reports from India. Due to its manifestations at any stage of development, it is important to arrive at a correct diagnosis. Two cases are presented, highlighting the need to recognize this relatively uncommon disorder and to differentiate it from various other neurodegenerative disorders. PMID:12391464
Malhotra, S; Kumar, D; Gupta, N
Oro-Facial Digital Syndrome (OFDS) is a generic term for group of apparently distinctive genetic diseases that affect the development of the oral cavity, facial features, and digits. One of these is OFDS type I (OFDS-I) which has rarely been reported in Asian countries. This is the case report of a 13 year old patient with OFDS type I who reported to the Department of Pedodontics and Preventive Dentistry, with the complaint of discolored upper front teeth. PMID:24739916
Dhull, Kanika Singh; Acharya, Sonu; Mohanty, Mamta; Dhull, Rachita Singh; Panda, Swagatika
We would like to report a case of a 29-year-old male patient who presented with multiple lymphadenopathy and vague symptoms of low grade fever, cough, weight loss, rashes, vomiting, dry eyes and dry mouth. Physical examination revealed submandibular lymphadenopathy, vasculitic rashes over both lower limbs, and parotid gland enlargement. Blood investigations showed mild anemia with leukocytosis, predominantly eosinophilia and high erythrocyte sedimentation rate and C-reactive protein. Computed tomography of the neck, thorax and abdomen showed bilateral submandibular, submental adenopathy, mediastinal and para-aortic lymphadenopathy with generalized reticulonodular densities in both lower lobes. There were hepatomegaly and bilateral enlarged kidneys with renal cyst. Histopathological examination from the cervical lymph node later revealed non-caseating granuloma, consistent of sarcoidosis. Patient responded well to prednisolone 50 mg daily with subsequent reduction in the size of cervical lymphadenopathy and parotid swelling. Keywords Lymphadenopathy; Granuloma; Sjogren; Sarcoidosis
Ahmad, Yuhanisa; Shahril, Nur Shuhaila; Hussein, Heselynn; Said, Mohd Shahrir Mohamed
We report the case of a 69 year-old female patient who was hospitalized for Diogenes syndrome, defined by marked self-neglect, social withdrawal and excessive hoarding, leading to squalor. Somatic causes were eliminated. Her personal history showed an eight-year depressive episode followed by a 20-year hypomanic episode without remission, followed by a persistent manic episode associated with Diogenes syndrome for four years. The Diogenes syndrome was successfully treated with mood stabilizers. Mood disorders - in particular chronic mania (i.e. a manic episode lasting more than two years) - should be considered in cases of Diogenes syndrome and in current classifications. PMID:20836916
Fond, G; Jollant, F; Abbar, M
Shwachman-Diamond syndrome is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems, including bone, pancreas, and, to a lesser extent, the heart. Myocardial fibrosis, necrosis, and a case of dilated cardiomyopathy have, so far, been described. We report the first case of atrioventricular septal defect in a patient with Shwachman-Diamond syndrome. PMID:23803361
Le Gloan, Laurianne; Blin, Nicolas; Langlard, Jean-Marc
Classical Poland Syndrome (PS) is characterized by unilateral, partial or complete absence of the sternocostal head of the major pectoral muscle and brachysyndactyly of fingers on the same side. We report the case of a newborn infant with dextrocardia and PS located on the left side. This association is very rare: to date only 19 cases have been described in scientific literature. In all reported cases, as in the present, the Poland defect involved the left side and was associated to rib defects, whereas most cases of PS are on the right side and few have rib defects. This case supports the view that dextrocardia follows the loss of volume of the left hemithorax caused by Poland sequence and that the combination of PS and dextrocardia is not coincidental.
Stiff-person syndrome (SPS) is a rare condition of progressive muscular rigidity and spasm, frequently accompanied by other autoimmune conditions, an association which has been further strengthened by the discovery of anti-GAD antibodies and the response of SPS to immunotherapies. Intravenous immunoglobulin (IVIg) is the mainstay therapy. Because of the rarity of the GAD antibody associated conditions, most of the information regarding treatment is case series and individual case reports. Here we describe the 15 year long management of a subject with SPS who has had a favourable outcome. PMID:21442460
Gnanapavan, Sharmilee; Vincent, Angela; Giovannoni, Gavin
A case of a 29-year-old woman 18 days after delivery with catastrophic antiphospholipid syndrome secondary (CAPS) due to undiagnosed systemic lupus erythematosus, leading to cardiogenic shock is reported. Laboratory evaluation revealed increased anticardiolipin antibodies, lupus anticoagulant, antinuclear antibody and thrombocytopenia. Left ventricular ejection fraction was 20%, neurologic deficit and acute renal failure were also present. Cardiac involvement is common in CAPS, but cardiomyopathy due to microvascular thrombosis is rare. CAPS should be considered as a cause of acute heart failure in a women with systemic lupus erythematosus. In the presented case early therapy with anticoagulants, steroids, immunoglobulins and plasmaferesis was beneficial. PMID:19650000
Zieba, Bozena; Wegrzyn, Agnieszka; Mital, Andrzej; Szczepi?ska-Nowak, Maria; Lewicki, Lukasz; Chmielecki, Micha?; Puchalski, Wies?aw; Rynkiewicz, Andrzej
We report the first case of Leigh syndrome (LS) with Fukuyama congenital muscular dystrophy (FCMD). A neonate suffered from lactic acidosis and subsequently presented with poor feeding, muscle weakness, hypotonia, cardiopulmonary dysfunction, and hydrocephalus. He died at 17months. The findings of brain magnetic resonance imaging indicated some specific features of both LS and FCMD, and FCMD gene mutation was detected. Decreased mitochondrial respiratory complex I and II activity was noted. Mitochondrial DNA sequencing showed no pathogenic mutation. A case with complex I+II deficiency has rarely been reported, suggesting a nuclear gene mutation. PMID:24113355
Kondo, Hidehito; Tanda, Koichi; Tabata, Chihiro; Hayashi, Kohei; Kihara, Minako; Kizaki, Zenro; Taniguchi-Ikeda, Mariko; Mori, Masato; Murayama, Kei; Ohtake, Akira
Sjogren-Larsson syndrome is a rare inherited autosomal recessive neurocutaneous disorder with typical findings on MRI. We describe the typical MRI and MR Spectroscopy findings in a clinically diagnosed case of Sjogren-Larsson syndrome. PMID:24207035
Srinivasan, G; Ushanandhini, P; Srividya, S; Ramprabhanath, S
Clinical analysis and genetic investigations of new cases of Wolcott-Rallison syndrome are needed to evaluate the role of the gene(s) directly or indirectly implicated in pancreas development and in the aetiology of the syndrome. PMID:10968248
Castelnau, P; Le Merrer, M; Diatloff-Zito, C; Marquis, E; Tęte, M J; Robert, J J
Gorlin syndrome is a rare familial disorder characterized by numerous basal cell carcinomas along with facial and skeletal findings. Here, we report a father and son case, presented with features of Gorlin syndrome.
Nikam, Balkrishna; Kshirsagar, Ashok; Shivhare, Pratik; Garg, Amitoj
Introduction Reversible posterior leukoencephalopathy syndrome – a reversible subacute global encephalopathy clinically presenting with headache, altered mental status, visual symptoms such as hemianopsia or cortical blindness, motor symptoms, and focal or generalized seizures – is characterized by a subcortical vasogenic edema symmetrically affecting posterior brain regions. Complete reversibility of both clinical signs and magnetic resonance imaging lesions is regarded as a defining feature of reversible posterior leukoencephalopathy syndrome. Reversible posterior leukoencephalopathy syndrome is almost exclusively seen in the setting of a predisposing clinical condition, such as pre-eclampsia, systemic infections, sepsis and shock, certain autoimmune diseases, various malignancies and cytotoxic chemotherapy, transplantation and concomitant immunosuppression (especially with calcineurin inhibitors) as well as episodes of abrupt hypertension. We describe for the first time clinical, radiological and histological findings in a case of reversible posterior leukoencephalopathy syndrome with an irreversible and fatal outcome occurring in the absence of any of the known predisposing clinical conditions except for a hypertensive episode. Case presentation A 58-year-old Caucasian woman presented with a two-week history of subacute and progressive occipital headache, blurred vision and imbalance of gait and with no evidence for raised arterial blood pressure during the two weeks previous to admission. Her past medical history was unremarkable except for controlled arterial hypertension. Cerebral magnetic resonance imaging demonstrated cortical and subcortical lesions with combined vasogenic and cytotoxic edema atypical for both venous congestion and arterial infarction. Routine laboratory and cerebrospinal fluid parameters were normal. The diagnosis of reversible posterior leukoencephalopathy syndrome was established. Within hours after admission the patient showed a rapidly decreasing level of consciousness, extension and flexion synergisms, bilaterally extensor plantar responses and rapid cardiopulmonary decompensation requiring ventilatory and cardiocirculatory support. Follow-up cerebral imaging demonstrated widespread and confluent cytotoxic edematous lesions in different arterial territories, global cerebral swelling, and subsequent upper and lower brainstem herniation. Four days after admission, the patient was declared dead because of brain death. Conclusion This case demonstrates that fulminant and fatal reversible posterior leukoencephalopathy syndrome may occur spontaneously, that is, in the absence of any of the known predisposing systemic conditions.
We report a 75-year-old woman developing serotonin syndrome following minimum doses of sertraline. She showed a depressed mood, insomnia, and general fatigue and was taking sulpiride at 300 mg/day, alprazolam at 1.2 mg/day, zopiclone at 7.5 mg/day, and etizolam at 1 mg/day. As she remained symptomatic, sertraline at 25 mg/day was added. Within 14 hours of starting sertraline, the patient began to experience delirium, impaired coordination, diaphoresis, tremulousness of the upper limbs bilaterally, and agitation. Sertraline was thus discontinued, and all of the above-mentioned symptoms disappeared rapidly. Serotonin syndrome is rarely reported in patients taking sertraline in Japan. To our knowledge, ours is the second case of serotonin syndrome associated with sertraline in Japan. According to Drug in Japan, sertraline must be started at the lowest efficacious dose with slow titration and is contraindicated for patients who are taking pimozide or monoamine oxidase inhibitors (MAOIs). Also, the coadministration of sertraline with other agents such as lithium, tricyclic antidepressants, and triptans necessitates the close observation of symptoms and signs. However, our case didn't take any of these combinations, and she was administered 25 mg/day, the lowest efficacious dose. This report emphasizes that caution is needed when prescribing sertraline to elderly patients and on its coadministration. PMID:19999561
Kan, Rumiko; Endou, Masatoshi; Unno, Yukihiro
Summary Neuroleptic malignant syndrome (NMS) is a rare but life-threatening condition induced by neuroleptic medications. Its main symptoms include the rapid onset of fever, severe extrapyramidal symptoms, autonomic nervous system dysfunction, and impaired consciousness. In severe cases, acute renal failure and circulatory failure can develop, which can rapidly lead to death. In this case report, we discuss the etiology, pathophysiology and management of this condition in a female patient with NMS induced by perospirone. The case highlights the need for clinicians to be vigilant: rapid identification of NMS and vigorous symptomatic treatment of NMS symptoms is the key to decreasing the case-fatality of this rare but serious adverse reaction to antipsychotic medications.
Chen, Jing; Zhi, Shengli
Review of 34 cases of Felty's syndrome showed this to be a form of 'super' rheumatoid disease because of the severity of joint disease, the prominence of extra-articular features and the remarkable incidence of infection. The response to splenectomy in these 34 patients was shown by a return towards normal of peripheral blood abnormalities and a decrease in bone marrow granulopoiesis. Although some patients remained free of infection after splenectomy, others have continued to have infections despite the return of white blood cell counts to normal levels. Although splenectomy and subsequent increase in white blood cell levels may be beneficial, our experience suggests that other factors are important in the susceptibility to infection of Felty's syndrome patients. Moreover, we think that splenectomy may have been instrumental in the fatal infection of one of our patients.
Sienknecht, C W; Urowitz, M B; Pruzanski, W; Stein, H B
Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ain-hum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome. PMID:24346921
Corte, Liliam Dalla; Silva, Mariana Vale Scribel da; Oliveira, Carina Flores de; Vetoratto, Gerson; Steglich, Raquel Bissacotti; Borges, Josiane
Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ainhum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome.
Corte, Liliam Dalla; da Silva, Mariana Vale Scribel; de Oliveira, Carina Flores; Vetoratto, Gerson; Steglich, Raquel Bissacotti; Borges, Josiane
We described a case of Werner's syndrome associated with osteosarcoma. A 37-year-old Japanese man was diagnosed as having Werner's syndrome by the presence of juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, high-pitched voice, characteristic bird-like appearance of the face with beak-shaped nose, thinning of the entire skin and hyperkeratoses on soles, hyperlipemia, hyperuricemia, diabetes melitus, and the mutated responsible gene (WRN). He had a 3-month history of a tumor on his left forearm. Histologically, the tumor included four histological patterns; a malignant fibrous histiocytoma-like, a desmoid-like, a dermatofibrosarcoma protuberans-like, and a chondrosarcoma-like pattern. Tumoral osteoid formation was also found in the tumor. Therefore, the tumor was diagnosed as osteosarcoma. PMID:10554436
Murata, K; Hatamochi, A; Shinkai, H; Ishikawa, Y; Kawaguchi, N; Goto, M
Scaphocapitate fracture syndrome is rare, complex injury. We report an unusual presentation of scaphocapitate fracture syndrome, involving fracture of the scaphoid and capitate associated with volar dislocation of the lunate and scaphoid and the proximal fragment of the capitate in a 30-year-old male after a motor vehicle accident. Computed tomography was found to be helpful for achieving the correct diagnosis. Open reduction and internal fixation was performed. The scaphoid fracture was fixed using a headless compression screw, and the volar displaced proximal fragment of the capitate was reduced to its original position, but could not be fixed because of severe comminution. This case cautions that the capitate fragment should not be excised even when it cannot be fixed due to comminution. PMID:23412323
Kim, Young Sung; Lee, Ho Min; Kim, Jong Pil
The yellow nail syndrome, a combination of yellow discolouration of and dystrophic changes in the nails, pleural effusions and lymphedema, is thought to be relatively rare; to date 44 cases have been reported. Of a further three patients with this syndrome, one had all three features, one had the yellow nails alone and the other had pleural effusions and lymphedema without classic nail changes. Each had recurrent lower respiratory tract infections; and of all 47, chronic pulmonary infections occurred in approximately one quarter and were frequently associated with chronic sinus infections. The underlying abnormality is presumed to be a congenital defect of the lymphatics, but so far this has not been demonstrated to be the cause of the nail changes, the pathogenesis of which remains obscure. Images FIG. 1
Nakielna, E. M.; Wilson, J.; Ballon, H. S.
We investigated an organic solvent abuser who developed amotivational syndrome employing neuropsychological examination (Rorschach test, Bender Gestalt test and Benton visual retention test), electroencephalography, magnetic resonance imaging (MRI) and single photon emission computed tomography (SPECT). The patient manifested a disability to maintain a goal-orient mental activity, immature reality testing and poor set shifting, which suggest frontal lobe dysfunction, as we have reported before in neuropsychological examination. In this case, single photon emission computed tomography (SPECT) also revealed a decrease of regional cerebral blood flow (rCBF) in the medial frontal lobe. These results may suggest a contribution of frontal lobe (especially medial frontal lobe) dysfunction to the pathogenesis of amotivational syndrome due to organic solvent abuse. PMID:10355248
Kitabayashi, Y; Ueda, H; Matsuda, M; Narumoto, J; Kobayashi, T; Fukui, K
Liddle's syndrome is a rare cause of secondary hypertension. Identification of this disorder is important because treatment differs from other forms of hypertension. We report an interesting case of a 35-year-old lady, a known diabetic and hypertensive patient, who presented with features of hypertensive encephalopathy. The family history was unremarkable. Past treat-ment with various combinations of antihypertensive medications including spironolactone, all at high doses, failed to control her blood pressure. Upon evaluation, the patient had hypokalemic alkalosis, low 24-h urine potassium and suppressed plasma renin activity. Although these findings were similar to hyperaldosteronism, plasma aldosterone was lower than the normal range. Blood pressure decreased markedly after administration of amiloride. Along with hyporeninemic hypo-aldosteronism, the non-responsiveness to spironolactone and good response to amiloride esta-blished the diagnosis of Liddle's syndrome. PMID:24969204
Kota, Sunil Kumar; Kota, Siva Krishna; Panda, Sandip; Modi, Kirtikumar D
Abstract: Brown-Sequard syndrome is a rare neurological disorder characterized by ipsilateral motor paralysis caused by a lesion through corticospinal tract and contralateral loss of pain and temperature sensation due to the involvement of spinothalamic tract. Cervical disc herniation has been reported to be a rare cause of Brown-Séquard's syndrome. This paper aims to report a case of Brown-Sequard syndrome that occurred in a patient suffering from CHD. In this case, using a rapid and urgent intervention we could prevent permanent neurologic deficit in the patient. Case: A 56-year-old woman complained about a sudden paresis in her right leg lasting for 4 days. Her pain was progressively worsening until she couldn’t walk without assistance. There was no history of trauma in the neck. Neurological examinations revealed right side spastic hemi-paresis as well as loss of pain and temperature sensation below T4 dermatome in the left side. The case was diagnosed as Brown-Sequard syndrome and cervical magnetic resonance imaging scan showed a disc herniation at C5/C6 and C6/C7 levels. Surgery was performed via anterior cervical microdiscectomy and fusion. After a 2-month period of follow-up, neurological assessments showed that motor and sensory functions of the patient returned to the normal condition. Although cervical disc herniation as a cause of Brown-Sequard syndrome is relatively rare, early diagnosis accompanied by an urgent treatment can prevent neurological complications in such cases. Keywords: Brown-Sequard Syndrome, Cervical Disc Herniation, Surgery, Ipsilateral motor paralysis
Ghasemi, Amir Abbas
Background To know the association between X-linked Agammaglobulinemia and Moebius Syndrome. The X-linked Agammaglobulinemia or Bruton disease, is characterized by the absence of B cells and decreased serum immunoglobulin. The defective gen codes a tyrosincinasa protein: Btk. Moebius Syndrome is a congenital facial palsy with impairment of ocular abduction, by a craniofacial dysmorphism and limb-abnormalities. Methods Review Medical Records in a patient with Diagnosis of Bruton Disease and Moebius Syndrome and review of cases in the literature. Case: Male patient, 15 years of age, a first borne from a normally evolved pregnancy, and no consanguinity data. There were some craniofacial dysmorphic features observed; severe lagofthalmus, lack of palpable lymph nodes and tonsils, difficulty swallowing, facial palsy, syndactyly, talipes equinovarus. Diagnosis is established as Moebius Syndrome by the department of genetics. Relatives have presented similar problems: 2 aunts and 2 uncles related to his mother had died prior to the first year of life with no specified cause. Almost since he became 3 years of age, has shown symptoms of rhinosinusitis, pneumonia, osteomyelitis in right knee caused by several pathogens as S. aureus and H. Influenzae, lack of weight and length, and multiple stays at the hospital. Serum IgG was 37.3 mg/dL, IgA < 23 mg/dL, IgM < 17.9 mg/dL, IgE < 14.2 IU/mL. The total lymphocytes (cells/Microliter) were 3203; T lymphocytes 80%, CD8 44%, CD4 34%, ratio CD4/CD8 0.78, CD56 8%, CD19 0 %, CD20 2%, CD22 2%. Treatment begins with intravenous gammaglobulin in replacement dosage. Results According to review the literature and data base, Mendelian Inheritance in Man, from the Johns Hopkins University, there is not known association between Bruton Disease and Moebius Syndrome. However, we consider important to report the coexistence of these diseases in one single patient. The karyotype should be studies in order to determine in a more objective way the probable link between both. Conclusions Since there are not previous reports of the association between X-linked Agammaglobulinemia and Moebius Syndrome this might set the precedent for a better knowledge and its implications to the future.
Ortega-Cisneros, Margarita; Cortes-Grimaldo, Rosa Maria; Madrigal, Ileana; Montano-Gonzalez, Efrain; Enriqueta Nunez-Nunez, Maria; Mendez-Santillan, Sergio; Garcia-Reyes, Guadalupe; Torres-Lozano, Carlos; Garcia-Cobas, Cecy
Introduction: Heterotopic mesenteric ossification is an extremely rare condition, which often follows trauma and is frequently symptomatic. To date, there are no reports in the literature of abdominal compartment syndrome occurring after surgical resection of mesenteric calcification. The present report documents an unusual case of compartment syndrome complicating resection of extensive mesenteric calcification despite abdominal closure with the components-separation technique. Method: A 48-year-old man undergoing components-separation technique for posttraumatic laparostomy hernia repair (ileostomy reversal and sigmoid stricture correction) was found to have extensive heterotopic mesenteric calcification, which needed resection. Results: Resection of the mesenteric calcification was complicated by intraoperative hemorrhage and unplanned small bowel resection. Later the patient developed secondary hemorrhage leading to an abdominal compartment syndrome, which was successfully treated by decompression, hemostasis, and Permacol-assisted laparotomy wound closure. The patient remains symptom-free more than 2 years after surgery. Discussion: The case herein reported gives an account of the rare occurrence of abdominal compartment syndrome following resection of posttraumatic ectopic mesenteric ossifications. It is highly unusual in that it occurred because of “secondary hemorrhage” and despite abdominal closure with the components-separation technique, which had been undertaken precisely to prevent compartment syndrome with direct closure. It therefore highlights the need for continued clinical vigilance in complex posttraumatic cases.
Nabulyato, William M.; Alsahiem, Hebah; Hall, Nigel R.; Malata, Charles M.
Ondine syndrome is the central congenital hypoventilation syndrome (CCHS) caused by the mutation of the PHOX2B gene. In late onset cases, the symptomatology often appears after an acute event (infection, general anesthesia, drug intake), increasing hypoventilation. We report a case of late onset Ondine curse in a 9-year-old girl. The diagnosis was made based on a hypercapnic coma complicating a respiratory infection caused by Mycoplasma pneumoniae and was confirmed by genetic testing. In the patient's history we found symptoms that had not been noted (e.g., enuresis, morning headache, adynamia), attesting to chronic hypoventilation. Through this observation, we review the literature on CCHS, notably late onset cases, which are rare and insidious, emphasizing the pre-existing hypoventilation symptoms in this child. This case underlines the need for all practitioners not to trivialize these symptoms so as to decrease the current delay in diagnosis for late onset CCHS and to introduce optimal care as soon as possible. PMID:23037578
Butin, M; Labbé, G; Vrielynck, S; Franco, P; Massenavette, B; Bellon, G; Reix, P
Rituximab has been used over the last decade as a rescue therapy for refractory cases of nephrotic syndrome (NS). Here we report the use of rituximab in four children with idiopathic steroid-resistant nephrotic syndrome (SRNS) with various histological backgrounds (two cases with focal segmental glomerulosclerosis, one case with IgM nephropathy, and one case with minimal change disease), who failed to respond to other immunsuppressions. Their median age (range) was 10 (8-11) years. NPHS2 genetic mutation was negative in all of them. All patients received a single dose of rituximab (375 mg/m(2)) and achieved complete B cell depletion as CD19 was <1% for 3 months following rituximab infusion. Only one patient achieved non-sustained remission as he relapsed after 4 months despite zero CD19 level. Patients received no further doses of rituximab as B cell was depleted in the peripheral circulation. We conclude that a single dose of rituximab was not effective in inducing sustained remission in children with idiopathic SRNS, despite complete B cell depletion in the peripheral circulation. Further doses might be indicated to deplete non-circulating B cells. PMID:21279725
Kari, Jameela A; El-Morshedy, Salah M; El-Desoky, Sherif; Alshaya, Hammad O; Rahim, Khawla A; Edrees, Burhan M
Introduction Eosinophilic myocarditis is a rare form of myocarditis. It is characterized pathologically by diffuse or focal myocardial inflammation with eosinophilic infiltration, often in association with peripheral blood eosinophilia. We report a case of eosinophilic myocarditis secondary to hypereosinophilic syndrome. Case presentation A 74-year-old Caucasian woman with a history of asthma, paroxysmal atrial fibrillation, stroke and coronary artery disease presented to the emergency department of our hospital with chest pain. Evaluations revealed that she had peripheral blood eosinophilia and elevated cardiac enzymes. Electrocardiographic findings were nonspecific. Her electrocardiographic finding and elevated cardiac enzymes pointed to a non-ST-elevated myocardial infarction. Echocardiogram showed a severe decrease in the left ventricular systolic function. Coronary angiogram showed nonobstructive coronary artery disease. She then underwent cardiac magnetic resonance imaging, which showed neither infiltrative myocardial diseases nor any evidence of infarction. This was followed by an endomyocardial biopsy which was consistent with eosinophilic myocarditis. Hematologic workup regarding her eosinophilia was consistent with hypereosinophilic syndrome. After being started on steroid therapy, her peripheral eosinophilia resolved and her symptoms improved. Her left ventricular ejection fraction, however, did not improve. Conclusion Eosinophilic myocarditis can present like an acute myocardial infarction and should be considered in the differential diagnosis of acute coronary syndrome in patients with a history of allergy, asthma or acute reduction of the left ventricular function with or without peripheral eosinophilia.
Frasier syndrome (FS) is characterized by gonadal dysgenesis and nephropathy. It is caused by specific mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23. Patients with the 46,XY karyotype present normal female genitalia with streak gonads, and have higher risk of gonadal tumor, mainly, gonadoblastoma. Therefore, elective bilateral gonadectomy is indicated. Nephropathy in FS consists in nephrotic syndrome (NS) with proteinuria that begins early in childhood and progressively increases with age, mainly due to nonspecific focal and segmental glomerular sclerosis (FSGS). Patients are generally unresponsive to steroid and immunosuppressive therapies, and will develop end-stage renal failure (ESRF) during the second or third decade of life. We report here four cases of FS diagnosis after identification of WT1 mutations. Case 1 was part of a large cohort of patients diagnosed with steroid-resistant nephrotic syndrome, in whom the screening for mutations within WT1 8-9 hotspot fragment identified the IVS9+5G>A mutation. Beside FS, this patient showed unusual characteristics, such as urinary malformation (horseshoe kidney), and bilateral dysgerminoma. Cases 2 and 3, also bearing the IVS9+5G>A mutation, and case 4, with IVS9+1G>A mutation, were studied due to FSGS and/or delayed puberty; additionally, patients 2 and 4 developed bilateral gonadal tumors. Since the great majority of FS patients have normal female external genitalia, sex reversal is not suspected before they present delayed puberty and/or primary amenorrhea. Therefore, molecular screening of WT1 gene is very important to confirm the FS diagnosis. PMID:23295293
Guaragna, Mara Sanches; Lutaif, Anna Cristina Gervásio de Britto; Bittencourt, Viviane Barros; Piveta, Cristiane Santos Cruz; Soardi, Fernanda Caroline; Castro, Luiz Claudio Gonçalves; Belangero, Vera Maria Santoro; Maciel-Guerra, Andréa Trevas; Guerra-Junior, Gil; Mello, Maricilda Palandi De
Occurrence of multiple odontogenic keratocyst involving the jaws is rare. When multiple, it is usually associated with a syndrome. Occurrence of multiple odontogenic keratocyst without syndromic association is extremely rare. Gorlin-Goltz syndrome which is also known as Nevoid Basal Cell Carcinoma Syndrome is a rare autosomal dominant disorder. Multiple Odontogenic Keratocysts (OKCs) are principle features of nevoid basal cell carcinoma syndrome (NBCCS; Gorlin-Goltz syndrome). However, a case of multiple odontogenic keratocysts unassociated with any syndrome is reported here so as to add to the growing number of such cases in the literature. The possibility of this case being a partial expression of the Gorlin-Goltz syndrome is discussed. PMID:24984621
Hammannavar, Reshma; Holikatti, Kiran; Bassappa, Sharan; Shinde, Nagesh; Reddy, Manjunath; Chidambaram, Y S
Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is a quite rare congenital and fatal disease which was firstly defined by Berdon and his colleagues. It appears through a widely enlarged bladder and microcolon and its cause is unknown (Berdon et al., 1976; Carmelo et al., 2005; Makhija et al., 1999; Loening-Baucke and Kimura 1999; Redman et al., 1984; Hsu et al., 2003; Yigit et al., 1996; Srikanth et al., 1993). The disease is found in females three or four times more than in males (Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). Most of the cases die within the early months of their lives (Yigit et al., 1996; Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). We present the case of a female newborn with antenatal ultrasound revealing intestinal mass and bilateral hydroureteronephrosis. The case was admitted for intestinal obstruction after birth.
Melek, Mehmet; Edirne, Yesim; Beger, Burhan; Cetin, Mecnun
Introduction Hemophagocytic syndrome (HFS) is a potentially lethal disorder due to an uncontrolled immune response to a triggering agent. Our objective is to raise the importance of HFS early diagnosis by presenting a representative case. Case presentation A sixteen-year-old girl with Still disease diagnosis developed a progressive multiorgan failure including acute respiratory distress (ARDS), anemia and thrombopenia, elevated liver enzymes, renal failure, coagulopathy with hypofibrinogenemia, and acute phase reactants elevation despite broad-spectrum antibiotics. A bone marrow puncture-biopsy was performed, and hemophagocytosis was found. Prolonged fever, splenomegaly, bicytopenia, hypofibrinogenemia, hyperferritinemia and hypertriglyceridemia confirmed HFS diagnosis. She received intensive care support therapy including mechanical ventilation and specific therapy according to HLH 2004 protocol, with a very good response. Conclusion Our case shows complexity of HFS diagnosis, due to septic shock-like manifestations. Early diagnosis is essential to start appropriate treatment achieving a better outcome.
Mayordomo-Colunga, Juan; Rey, Corsino; Gonzalez, Soledad; Concha, Andres
Introduction We report a case of postural tachycardia syndrome occurring after the surgical correction of an aortic coarctation, and coexisting with upper airway resistance syndrome. Case presentation A 29-year-old Caucasian man complained of extreme fatigue, daytime sleepiness, shortness of breath on exertion, light-headedness and general weakness on standing. These symptoms began shortly after the surgical correction of an aortic coarctation and became progressively more debilitating, impairing any daily activity. An extensive work-up revealed postural tachycardia syndrome and a coexisting sleep-related breathing disorder, characterized as upper airway resistance syndrome. Conclusion This is the first reported case describing the occurrence of postural tachycardia syndrome after the surgical correction of an aortic coarctation. This case also provides evidence for the suggestion that this syndrome may coexist with upper airway resistance syndrome, although the exact nature of their relationship must still be better established.
A 41-year-old woman was diagnosed as having Werner's syndrome associated with bladder cancer. The patient noticed sudden, total gross hematuria in September, 1985. Cystoscopy revealed a papillary tumor with a stalk that was accompanied by a daughter tumor and concealed the left ureteral orifice. The tumors were 25 X 20 X 10 mm and 15 X 10 X 5 mm. Double contrast cystograms, computed tomography and transurethral echo showed no invasion of muscle layer. Intravesical instillation of mitomycin (10 mg), cylocide (300 mg) and adriacin (30 mg) was carried out 3 times per week for 4 weeks. Tumor size was reduced, and then TUR was performed. High power section of the removed bladder tumor showed pathologically PNT, TCC, grade II, INF alpha, pTla, lyo and v(-). The patient had such clinical manifestations as short stature with low body weight, thin limbs and stocky trunk, senile face, early graying hair, highpitched voice, bilateral cataracts, osteoporosis, sclerodermia-like signs, flat feet, tendency toward diabetes mellitus and parental consanguinity. Hyaluronic acid was not detected in the urine. To the best of our knowledge, this seems to be the 30th report describing the association of malignancy with Werner's syndrome in Japan; besides, only one other case of bladder cancer in Werner's syndrome has been reported to date in the world. PMID:3591591
Arima, K; Tsukamoto, K; Hori, N; Sugimura, Y; Tochigi, H; Kawamura, J; Goto, M
Rett Syndrome was first described in 1966 by Andreas Rett. The disorder is characterized by a progressive loss of cognitive and motor skills as well as development o stereotyped hand movements, occurring after an apparently normal development. Authors present three typical cases, and, another one atypical, being all of them female. This study takes into account ten different areas about chronology, age and reasons in the first consultation, some milestones of psychomotor development, the diagnostic criteria--according to Rett Syndrome Diagnostic Criteria Work Group (R.S.D.C.W.G.), they consists of necessary, supportive and exclusion criteria-, some signs and symptoms that authors consider frequently associated with Rett syndrome, some diagnostic tests with neurophysiologic technics--E.E.G.--, as well as neuroimagins technics--C.T. and M.R.I.--; routine laboratory studies, development scales and something else, the DAS-SV scale which is usually used to study different handicaps and therapeutic interventions such as: psychosocial, clinical, pharmacological (valproic acid, carbamacepine, clorpromacine, etc.) and institutional. Three tables and 72 bibliographic notes are included. PMID:7645416
Conde López, V J; Ballesteros Alcalde, M C; Franco Martín, M A; Geijo Uribe, M S
Objective: To present the unique case of a collegiate swimmer who experienced nearly 9 months of unresolved rib pain. Background: A 20-year-old collegiate swimmer was jumping up and down, warming up before a race, when she experienced pain in the area of her left lower rib cage. She completed the event and 2 additional events that day with moderate discomfort. The athlete was evaluated by a certified athletic trainer 3 days postinjury and followed up over the next 9 months with the team physician, a chiropractor, a nonsurgical sports medicine physician, and a thoracic surgeon. Differential Diagnosis: Intercostal strain, oblique strain, fractured rib, somatic dysfunction, hepatosplenic conditions, pleuritic chest pain, slipping rib syndrome. Treatment: The athlete underwent 4 months of conservative treatment (eg, activity modification, ice, ultrasound, hot packs, nonsteroidal anti-inflammatory drugs) after the injury, independently sought chiropractic intervention (12 treatments) 4 to 6 months postinjury, was referred to physical therapy (10 visits) by a nonsurgical sports medicine physician 6 to 8 months postinjury, and finally underwent surgical intervention 9 months after the onset of the initial symptoms. Uniqueness: Slipping rib syndrome was first described in 1919. However, many health care professionals who are involved with diagnosing and treating athletes and active individuals (eg, athletic trainers, physicians) are relatively unfamiliar with this musculoskeletal condition. Conclusions: It is important for clinicians and team physicians to familiarize themselves with and consider the diagnosis of slipping rib syndrome when assessing and managing individuals with persistent abdominal and/or thoracic pain.
Udermann, Brian E; Cavanaugh, Daniel G; Gibson, Mark H; Doberstein, Scott T; Mayer, John M; Murray, Steven R
The antiphospholipid syndrome (APS) is defined by the association of high titers of antiphospholipid antibodies (aPLs) with thrombotic events and/or obstetrical problems. APS can be isolated or associated with immune system diseases. Several central nervous system (CNS) manifestations have been reported in APS, but are still not included in the international diagnostic criteria. We present here three cases of APS revealed by CNS manifestations. The first patient had a primary APS with stroke, dementia, epilepsy and the "so-called" Liebman-Sacks disease, a subacute thrombotic non-bacterial valvulopathy. The second one developed a primary APS with a Sneddon syndrome, while the third case is a neurolupus-associated APS with subacute encephalopathy, chorea, stroke, and epilepsy. The pathogenesis of the APS is related to both prothrombotic and immunologic effects of the aPLs. Long-term anticoagulation by low-weight heparin or warfarin is currently recommended in APS. We propose to search the presence of aPLs in any case of young adults' stroke, unexplained dementia, and acquired chorea. PMID:24464766
De Maeseneire, Ch; Duray, M C; Rutgers, M P; Gille, M
We report the longitudinal case study of a right-handed patient harboring two frontal tumors that benefited from bilateral simultaneous surgery. The tumors were WHO Grade II gliomas located in the left inferior frontal area (including the cingulate gyrus) and the right anterior superior frontal gyrus. The double tumor resection was guided by direct electrical stimulation of brain areas while the patient was awake. Neuropsychological assessments were administered before and after the surgery to analyse how the brain functions in the presence of two frontal gliomas that affect both hemispheres and reacts to a bilateral resection, which can brutally compromise the neuronal connectivity, progressively established during the infiltrating process. We showed that both the tumor infiltration and their bilateral resection did not lead to a "frontal syndrome" or a "dysexecutive syndrome" predicted by the localization models. However, a subtle fragility was observed in fine-grain language, memory and emotional skills. This case study reveals the significance of brain plasticity in the reorganization of cognitive networks, even in cases of bilateral tumors. It also confirms the clinical relevance of hodotopical brain models, which considers the brain to be organized in parallel-distributed networks around cortical centers and epicenters. PMID:23962155
Plaza, M; du Boullay, V; Perrault, A; Chaby, L; Capelle, L
Purpose: To present a patient with overlapping choriocapillaritis syndromes who first presented as a typical case of multiple evanescent white dot syndrome (MEWDS) and later with characteristic findings compatible with multifocal choroiditis (MFC). Case Report: A 40-year-old myopic woman presented with a paracentral scotoma OS. Fundus examination revealed pale discolored areas around the optic disc corresponding to faintly hyperfluorescent areas on fluorescein angiography (FA). On indocyanine green angiography (ICGA) there was extensive peripapillary hypofluorescence and confluent hypofluorescent dots superiorly. According to the clinical picture, a diagnosis of MEWDS was made. In 4 weeks, the visual field reverted to normal together with almost complete regression of hypofluorescence on ICGA. However, 4 months later fundus examination revealed some scars, a finding not typical for MEWDS. Besides, she developed another scotoma 12 months later accompanied by photopsia and the fundus illustrated more numerous scars than one year earlier. ICGA showed hypofluorescent areas corresponding to the scotoma delineated by visual field testing. The pattern of this recurrence clearly corresponded to MFC. Conclusion: This case illustrates an overlap between two entities, MEWDS and MFC in two sequential episodes. FA and fundus autofluorescence accounted for the lesions and optical coherence tomography showed damage to the photoreceptor outer segments, but only ICGA correlated well with functional evolution.
Kuznetcova, Tatiana; Jeannin, Bruno; Herbort, Carl P
A 32-year-old man was referred to our hospital for primary infertility of a 4.5-year duration. Neither character nor intelligence disorders were observed. Bilateral testes measured 16 ml each. Sperm density was 0-0.1 x 10(6)/ml on 3 separate occasions. Endocrine examinations were all within normal limits. Maturation arrest was found on testicular biopsy. Karyotyping showed 47, XYY inversion. Polymerase chain reaction revealed no deletion of the azoospermic factor (AZF) gene on the Y chromosome. This is the 6th case reported in the Japanese literature of the 47XYY syndrome presenting with male infertility. PMID:9250495
Murakami, J; Baba, K; Minagawa, N; Kono, S; Yajima, M; Iwamoto, T
Congenital bilateral Perislyvian syndrome (CBPS) is a rare structural malformation of the brain in which the underlying anomaly is polymicrogyria. Polymicrogyria is a malformation of cortical development that is characterized by abnormal arrangement and excessive folding of cerebral cortical cell layers, often with fusion of the gyral surfaces, which can be focal or regional or involve the whole cortical mantle. Clinical manifestations depend upon the anatomical region of the brain involved. We report a case of 7-year-old male child with magnetic resonance imaging findings of CBPS. PMID:24404535
Gowda, Anand K; Mane, Ranoji Shivaji; Kumar, Ashok
Hyperimmunoglobulinemia E (Job's) syndrome is characterized by markedly increased levels of immunoglobulin E, recurrent cutaneous and systemic pyogenic infections, atopic dermatitis, and peripheral eosinophilia. Although ocular involvement in Job's syndrome is rare, there are reports of keratoconus, staphylococcal chalazia with blepharitis, and Candida endophthalmitis by various authors. We present the first case report of retinal detachment with complicated cataract in Job's syndrome.
Arora, Vipul; Kim, Usha R; Khazei, Hadi M; Kusagur, Shivayogi
Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interesting because she developed Wilms' tumor at 21 months of age. To our knowledge,
Nilgun Yaris; F. Müjgan Aynaci; Mukaddes Kalyoncu; Ender Ödemi?; Aysenur Okten
DiGeorge syndrome is associated with a chromosome 22q11.2 deletion and manifests with variable clinical findings. Aspiration pneumonia can be a perioperative complication of great concern in this syndrome. In this report, we present a case of a 16-month old child with DiGeorge syndrome undergoing cranioplasty. He developed perioperative aspiration pneumonia but was managed successfully.
This paper summarizes the case histories of four young children with concurrent autistic disorder and Williams syndrome. Williams syndrome comprises a peculiar facial appearance, learning disorder, and often hypercalcemia, mild microcephaly, large blood vessel stenosis, and a specific behavioral phenotype. Literature on Williams syndrome is…
Gillberg, Christopher; Rasmussen, Peder
Sturge-Weber syndrome can be associated with facial port-wine stains and intracranial calcification, and concurrent Klippel-Trenaunay-Weber syndrome has been reported. Klippel-Trenaunay-Weber syndrome is a rare congenital mesodermal phakomatosis characterized by cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities. This report is presented a rare case of the Sturge-Weber syndrome in combination with the Klippel-Trennaunay syndrome and phakomatosis pigmentovascularis in a 4-month-old infant. He showed nevus flameus on the right leg and both part of the face and back, leptomeningeal angiomatosis on right hemisphere, hypertrophy of the right leg, hemiconvulsion on the left and also evidences of congenital glaucoma and nevus of Ota. Very rare case combined with these three kinds of phakomatosis has been reported.
Choi, Du-Young; Oh, Yeon-Geun; Yoon, Hyang-Suk; Kim, Jong-Duk
The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and Tricho-rhino-phalangeal syndrome. Only a few examples of nonsyndromic multiple supernumerary teeth have been reported in literature. In this report, we present the unusual case and 9-year follow up of a non-syndrome female patient with bilateral supernumerary teeth that occurred with an interval of several years.
Akgun, Ozlem Marti; Sabuncuoglu, Fidan; Altug, Ayberk; Altun, Ceyhan
The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and Tricho-rhino-phalangeal syndrome. Only a few examples of nonsyndromic multiple supernumerary teeth have been reported in literature. In this report, we present the unusual case and 9-year follow up of a non-syndrome female patient with bilateral supernumerary teeth that occurred with an interval of several years. PMID:23408107
Akgun, Ozlem Marti; Sabuncuoglu, Fidan; Altug, Ayberk; Altun, Ceyhan
Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development. Literature regarding the anesthetic management of these cases is limited. We present 2 cases of Shah–Waardenburg syndrome and discuss them in the context of review of previously published cases.
Ambi, Uday S.; Adarsh, E. S.; Hatti, Ramesh; Samalad, Vijaymahantesh
Malignant migrating partial seizures in infancy (MMPSI) or Coppola-Dulac syndrome is a rare epilepsy syndrome with the onset in the first 6 months of life, characterized by multiple continuous electroencephalographic and electroclinical focal ictal patterns due to the involvement of different independent areas of both hemispheres with the arrest of psychomotor development. This article is based on the personal observations of 19 cases. Four subtypes of the syndrome were determined in our population of infants with MMPSI (n=19): 1) a "classic" form with pharmacoresistant migrated status epilepticus (SE) of migrating multifocal seizures, and with absolutely poor prognosis (n=7); 2) a severe pharmacoresistant mixed form (MMPSI + EME) with the combination of electroclinical characteristics of MMPSI with migrating multifocal SE and early myoclonic encephalopathy (n=5); 3) a "mild" variant (n=5); 4) a "subtle" form (n=2). In basic therapy, drugs of choice are antiepileptic drugs (AEDs) with a wide range of action (valproates, in the combination with barbiturates, benzodiazepines and levetiracetam) and also very old drugs as bromides. The preferred drugs are the valproate forms available for patients with disturbances of swallowing (depakine chronosphere or depakine syrup). PMID:23612406
Kholin, A A
The syndrome of progressive supranuclear palsy-like syndrome is a rare complication of ascending aortic aneurysm repair. We report two patients with videos and present a table of prior reported cases. To our knowledge there is no previously published video of this syndrome. The suspected mechanism is brainstem injury though neuroimaging is often negative for an associated infarct. We hope our report will increase recognition of this syndrome after aortic surgery, especially in patients with visual complaints. PMID:24386607
Nandipati, Sirisha; Rucker, Janet C; Frucht, Steven J
Foster Kennedy syndrome is a very rare syndrome which includes ipsilateral optic atrophy and central scotoma, anosmia, contralateral papilledema, and, occasionally, ipsilateral proptosis. A large frontal lobe, olfactory groove, or medial third sphenoidal wing tumor, usually a meningioma, creates this syndrome. In this report, the author presents a case of metastatic cerebral tumor with Foster Kennedy syndrome but without frontal lobe or anterior cranial fossa involvement. PMID:1635628
Cushing's syndrome (CS) is associated with reduced life quality and increased mortality, mostly due to cardiovascular disease. The features of this syndrome are central obesity, moon facies, facial plethora, supraclavicular fat pads, buffalo hump, and purple striae. Other complications include hyperglycemia, hypertension, proximal muscle weakness, skin thinning, menstrual irregularities, amenorrhea and osteopenia. These make perioperative and anesthetic management difficult and present a challenge to the operating team, especially the anaesthesiologist. In this paper, we present two such cases of CS, which were treated with adrenalectomy. We aim to highlight the special care and precautions that need to be taken while administering anesthesia, and in the post operatory period. Anaesthesia induction in the two cases of CS was done prior to the adrenalectomy procedure and special pre and post operative care was taken. Continuous intra operative monitoring of vitals and checking for the stability of the haemodynamics was performed. With adequate care and using advanced anesthetic techniques, the patients showed uneventful post operative recovery. Though the anesthetic management of patients with CS is difficult, desired results can be achieved with continuous monitoring and special precautions.
Domi, Rudin; Sula, Hektor
We report a case of food protein-induced enterocolitis syndrome (FPIES) with milk whose signs of milk intolerance began in the 1st days of life, consisting in minor and nonspecific symptoms. The 3 foods in question were cow's milk, soja, and wheat. The diagnosis of FPIES was suspected at the age of 9 months, after 3 hospitalizations for vomiting, sometimes associated with lethargy and hypotension, which occurred around 2h after cow's milk ingestion. Symptoms were not associated with positive specific IgE and cutaneous tests. Signs then occurred with soja and wheat. Because of the late diagnosis, 3 anaphylactic shock episodes occurred. FPIES is an uncommon cell-mediated food allergy reaction. This syndrome is characterized by gastrointestinal symptoms, especially severe vomiting, sometimes associated with anaphylactic shock. Usually signs occur 2h after ingestion. These reactions begin early, in the 1st months of life, and regress by the age of 3 years in 38-100% of cases depending on the responsible food. They are usually induced by cow's milk and soy proteins. Diagnosis is difficult and delayed because of nonspecific symptoms. Oral food challenge is the only examination that confirms the diagnosis. Treatment involves the exclusion of the specific food involved. Severe reactions require treatment of shock and adjunction of corticosteroids. PMID:20346636
Chaabane, M; Bidat, E; Chevallier, B
Posterior reversible encephalopathy syndrome (PRES), is an acute, neurotoxic state. It is a very rare clinico-neuroradiological entity, and it is a complication of multiple clinical conditions. The association of PRES with toxemia in pregnancy is established. In this article, the authors discuss the case of a 22-year-old woman, gravida 1, 36-week pregnant, with extensive, bilateral white matter hypodensity, predominantly involving the parieto-occipital lobes region. These changes were highly suggestive of posterior reversible encephalopathy. This case report demonstrates that early treatment with control of blood pressure seizures can reverse this condition and also prevent progression to an irreversible damage, thus emphasizing the need for early diagnosis and treatment. PMID:24597270
Patacchiola, F; Franchi, V; Di Febbo, G; Carta, A; Carta, G
Systemic capillary leak syndrome (SCLS) is very rare and lethal disease and only 150 cases have been reported after the first publication of its report in 1960 by Clarkson. SCLS is characterized by hemoconcentation and hypoalbuminemia caused by reversible plasma extravasation. Its mechanism is unknown, but transient dysfunction of the endothelium is the most suspected cause and trigger of this event may cause immunologic disarrangement. After recovery of endothelial function, fluid injected during the shock period is redistributed and can cause severe pulmonary edema. SCLS should be considered in patients with acute and severe hypotension with hemoconcentration and hypoalbuminemia without obvious cardiac dysfunction. Especially we should take into account the possibility of SCLS if fluid replacement does not work or the shock state is aggravated despite aggressive fluid resuscitation and vasopressor administration. SCLS itself is a very rare disease; furthermore, SCLS that develops during well-controlled surgery is even more rare. So we report this case with review of the literature.
Kim, Young-Ki; Kim, Se-Hun; Lee, Chang-Hee; Kim, Jin-Sun
Introduction Pulmonary artery thrombosis is one of the most important complications in patients with nephrotic syndrome. It is well known among nephrologists, however, that this possibly lethal complication very rarely occurs before the diagnosis of nephrotic syndrome. Case presentation A 21-year-old Japanese woman who had no specific medical history consulted a primary care clinic. Although she had been aware of the edema of her lower extremities for 2 weeks, her chief complaints were palpitations and chest pain, which had started the day before. An electrocardiogram and chest radiograph did not reveal any specific abnormalities. Because her etiology was not clear, she was referred to an emergency division in a hospital 2 days later. Although arterial blood gas analysis did not reveal hypoxemia, computed tomography revealed thrombi of the bilateral pulmonary arteries and left iliac vein. At this point, a laboratory examination confirmed the diagnosis of nephrotic syndrome. Subsequently, she was admitted, and anticoagulant therapy was initiated immediately. The next day, oral corticosteroid therapy was initiated, and an inferior vena cava filter was placed internally. Her proteinuria resolved after 3 weeks of treatment. The prompt and complete response to corticosteroid therapy suggested that minimal change disease was the etiology of the nephrotic syndrome and pulmonary artery thrombosis. Conclusions An awareness regarding the complication of pulmonary artery thrombosis in nephrotic syndrome is important not only for nephrologists but for all clinicians. Contrast-enhanced computed tomography is crucial to detect pulmonary artery thrombosis.
Diogenes syndrome (DS) is an acquired behavioural disturbance more often affecting elderly patients, but possible in all ages. It is characterised by social withdrawal, extreme self and house neglect, tendency to hoard any kind of objects/rubbish (syllogomania), and rejection against external help for lack of concern about one's condition. It is considered infrequent, but with quite high mortality. DS might be divided into several forms including Active (the patient gathers objects outside and accumulates them inside his house), Passive (patient invaded by his own rubbish), "ŕ deux" (DS sharing between two people), and "under-threshold" (DS "blocked" by precocious intervention). Four cases are here presented. In case 1 (passive DS) alcoholism and cognitive impairment could be trigger factors for DS, predisposed by a "personality alteration". In case 2 (active, "ŕ trois") superimposed psychosis could be the trigger, borderline intelligence being the predisposing factor. In case 3 (active), fronto-parietal internal hyperostosis might support an organic aetiology. Finally, case 4 was an example of isolated syllogomania in patient with evolving Alzheimer's dementia. Despite being heterogeneous, our casuistry suggest that DS can develop in both sexes, is prevalent in geriatric age and often associated with cognitive impairment/psychiatric disturbances, which are not specific, nor sufficient to justify DS. Isolated syllogomania only shares the characteristic hoarding with DS; although cognitive impairment might be present, the other DS typical aspects (social isolation, help refusal, characterial aspects, personal hygiene neglect) are absent. PMID:23846849
Zuliani, Giovanni; Soavi, Cecilia; Dainese, Anna; Milani, Paola; Gatti, Marino
Hypothenar hammer syndrome is an uncommon cause of upper-extremity ischemia that is often overlooked in the absence of a thorough occupational and recreational history. Importantly, it is a reversible cause of hand ischemia that, if missed, can lead to significant morbidity and even amputation. The occupational ramifications and quality of life of those affected can be significant. Its relative rarity, set against the ubiquitous use of the hand as a 'hammer' is noteworthy. Several other causes of hand ischemia can present similarly; therefore, consideration of other etiologies must be thoroughly investigated. Key distinguishing clinical features, in addition to a detailed occupational and recreational history, may include characteristic sparing of the thumb, the absence of a hyperemic phase in 'Raynaud's phenomenon', and a positive Allen's sign. Both non-invasive and invasive diagnostic studies, including bilateral upper-limb segmental pulse volume recordings (PVR), arterial duplex examination, and upper-extremity angiography, are complementary to a thorough history and physical examination. Optimal management strategies are not well defined because of its rarity and resultant lack of quality, evidence-based data. Though most cases can be successfully managed non-operatively, micrographic arterial reconstruction may be limb saving in severe or recalcitrant cases. Newer, experimental strategies including selective sympathetic blockage using botulinum toxin A have been reported in a few recalcitrant cases. The brief case description illustrates the typical presentation and potential treatment strategies employed in a difficult case. A review of relevant literature is also presented. PMID:22169157
Swanson, Keith E; Bartholomew, John R; Paulson, Rolf
Hypersensitivity reactions are common adverse drug reactions (ADRs) associated with antiepileptics. Carbamazepine is one of the routinely prescribed drugs for the treatment of epilepsy and neuropathic pain. ADRs due to carbamazepine range from mild maculopapular rash to severe anticonvulsant hypersensitivity syndrome (AHS). AHS is the triad of fever, rash, and internal organ involvement occurring 1-8 weeks after exposure to an anticonvulsant (1 in 1,000 to 10,000 exposures). Spontaneously reported three cases of AHS-drug hypersensitivity reactions induced by carbamazepine are discussed here. Seven to ten days after starting therapy, patients developed maculopapular skin rashes, fever and liver or kidney involvement. The causal relationship between drug and ADR was found to be ‘certain’ in one case and ‘probable’ in other two cases with both WHO-UMC and Naranjo causality assessment scale. All the three cases show category 4a according to Hartwig's severity scale as ADR was the cause for hospital admission. On assessing preventability of ADRs by modified Schumock and Thorntons’ scale, one case was falling into category of ‘definitely preventable’ and other two were ‘not preventable’. AHS is rare but serious reaction with carbamazepine which requires vigilant monitoring by physicians to avoid major consequences.
Mehta, Maulin; Shah, Jay; Khakhkhar, Tejas; Shah, Rima; Hemavathi, K. G.
Hypersensitivity reactions are common adverse drug reactions (ADRs) associated with antiepileptics. Carbamazepine is one of the routinely prescribed drugs for the treatment of epilepsy and neuropathic pain. ADRs due to carbamazepine range from mild maculopapular rash to severe anticonvulsant hypersensitivity syndrome (AHS). AHS is the triad of fever, rash, and internal organ involvement occurring 1-8 weeks after exposure to an anticonvulsant (1 in 1,000 to 10,000 exposures). Spontaneously reported three cases of AHS-drug hypersensitivity reactions induced by carbamazepine are discussed here. Seven to ten days after starting therapy, patients developed maculopapular skin rashes, fever and liver or kidney involvement. The causal relationship between drug and ADR was found to be 'certain' in one case and 'probable' in other two cases with both WHO-UMC and Naranjo causality assessment scale. All the three cases show category 4a according to Hartwig's severity scale as ADR was the cause for hospital admission. On assessing preventability of ADRs by modified Schumock and Thorntons' scale, one case was falling into category of 'definitely preventable' and other two were 'not preventable'. AHS is rare but serious reaction with carbamazepine which requires vigilant monitoring by physicians to avoid major consequences. PMID:24554914
Mehta, Maulin; Shah, Jay; Khakhkhar, Tejas; Shah, Rima; Hemavathi, K G
A 29-year-old female developed diplopia, nasal voice and gait disturbance after an upper respiratory infection. On admission, she presented with bilateral external ophthalmoplegia, slight bilateral facial nerve palsy, dysarthria, dysphagia, cervical and brachial muscle weakness, ataxia and areflexia. She had serum anti-GT1a, anti-GQ1b and anti-galactocerebroside IgG antibodies. She was diagnosed with an overlap case of Fisher syndrome and pharyngeal-cervical-brachial variant of Guillain-Barré syndrome. Intravenous immunoglobulin therapy was effective for the ophthalmoplegia and ataxia, but did not improve the bilateral facial nerve palsy and brachial muscle weakness. The facial nerve palsy clearly worsened despite improvement in other symptoms, and therefore high-dose intravenous methylprednisolone therapy was added. The distinct response to treatment may be caused by different activity, production, clearance and reactivity to intravenous immunoglobulin of the autoantibodies. The present case suggests that treatment response and patterns of recovery differ according to the causative anti-ganglioside antibodies. PMID:22260976
Shinoda, Koji; Murai, Hiroyuki; Shibata, Ken-Ichi; Samejima, Shoko; Kaneto, Shuji; Takashima, Nobuyoshi; Tanaka, Kimihiro
Klippel-Feil syndrome, or brevicollis, is a complex congenital disorder caused by the improper segmentation of the cervical vertebrae. The authors present the very rare case of a patient with Klippel-Feil syndrome who presented with an intradural arachnoid cyst at the craniocervical junction. They also examine possible factors contributing to this association. A 46-year-old woman presented with complaints of progressively worsening headaches and dizziness of 18 months' duration. She also demonstrated mild bilateral upper-extremity weakness. Magnetic resonance imaging revealed fused cervical vertebrae and a dorsal intradural arachnoid cyst at the craniocervical junction, extending down to the fourth cervical level. Because of worsening myelopathy and the presence of brainstem compression, the patient underwent surgical excision of the arachnoid cyst, which was approached via a midline posterior suboccipital/upper cervical route. An endoscope was introduced through a gap between the occiput and fused upper cervical vertebrae, and the arachnoid cyst was widely fenestrated. Postoperatively, the patient has remained symptom free for more than 2 years with evidence of good radiological decompression. The authors report a unique association between craniocervical arachnoid cyst and Klippel-Feil syndrome. To their knowledge, no other cases of this association have been reported in the literature. Arachnoid cysts should be part of the differential diagnosis in the presence of worsening myelopathic symptoms or pain in patients with Klippel-Feil syndrome. PMID:23231357
Khan, Imad Saeed; Ahmed, Osama; Thakur, Jai Deep; Shorter, Cedric D; Guthikonda, Bharat
Kocher Debre Semelaigne Syndrome is a rare syndrome with clinical manifestation of hypothyroidism associated with pseudomuscular hypertrophy. Very few cases have been reported on kocher-debre semelaigne syndrome in the literature with the incidence reported to be less than 10%. As per our knowledge; until now, only one case of oro-facial manifestations has been reported. Here we report one such case of Kocher debre semelaigne syndrome in an 11 year old boy, showing features of macroglossia, multiple impacted teeth, puffed lips and anterior open bite.
Panat, Sunil R.; Jha, Prakash Chandra; Chinnannavar, Sangamesh N.; Chakarvarty, Ankkita; Aggarwal, Ashish
Night eating syndrome is a common disorder in eating behaviors that occurs in close relation to the night time sleep cycle. Although eating disorders are common in society, night eating syndrome has been left neglected by health care professionals. In this report we present a case of eating disorder that exhibits some novel features of night eating syndrome. Our case was a progressed type of eating disorder which may increase awareness among physicians about sleep-related eating disorders. PMID:22930387
Shoar, Saeed; Naderan, Mohammad; Shoar, Nasrin; Dehpour, Ahmad Reza; Khorgami, Zhamak; Hoseini, Sayed Shahabuddin
Yellow nail syndrome is characterized by ungual dystrophy, lower limb lymphedema, and pleural effusions or bronchiectasis. Rheumatoid arthritis is the autoimmune disorder most often associated with yellow nail syndrome. We report two new cases of yellow nail syndrome in patents receiving thiol compound therapy for rheumatoid arthritis. Eight similar cases have been reported since 1979, suggesting a possible causative effect of this class of drugs. PMID:12184439
Lehuédé, Gaëlle; Toussirot, Eric; Despaux, Jacques; Michel, Fabrice; Wendling, Daniel
BACKGROUND: Ocular motor apraxia (OMA) in childhood is a poorly understood condition involving a failure of horizontal saccades. OMA is thought to be rare but the literature indicates wide clinical associations. OMA is often identified by abnormal head movements, but failure of reflexive quick phases has been reported in all but a few patients. The extent of this oculomotor disorder was examined in a large group of children with diverse clinical backgrounds. METHODS: The degree of quick phase failure during horizontal vestibular and optokinetic nystagmus was measured using DC electro-oculography and video in 74 affected children, aged 17 days to 14 years. RESULTS: All children showed an intermittent failure of nystagmic quick phases, except for total failure in one case. Other visuomotor abnormalities were common including saccadic hypometria (85%), low gain smooth pursuit (70%), neurological nystagmus (28%), strabismus (22%), and vertical abnormalities (11%). Non-ocular abnormalities were common including infantile hypotonia (61%), motor delay (77%), and speech delay (87%). There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos. Perinatal and postnatal problems were found in 15% including perinatal hypoxia, meningitis, periventricular leucomalacia, athetoid cerebral palsy, perinatal septicaemia and anaemia, herpes encephalitis, and epilepsy. Only 27% were idiopathic. CONCLUSION: Quick phase failure is a constant feature of OMA, whereas abnormal head movements were detected in only about half, depending on the underlying diagnosis. This oculomotor sign is better described as an intermittent saccade failure rather than as a true apraxia. It indicates central nervous system involvement, has wide clinical associations, but it is not a diagnosis.
Harris, C M; Shawkat, F; Russell-Eggitt, I; Wilson, J; Taylor, D
Summary Background: Hyperimmunoglobulinemia E syndrome (hyper-IgE syndrome, Job syndrome, HIES) is a complex immune deficiency with multiorgan clinical manifestations and diverse genetic background. The clinical triad of symptoms observed in approximately 75% of patients with HIES includes: recurrent abscesses of staphylococcal etiology, recurrent respiratory infections and elevated immunoglobulin E in serum. Case Report: The paper discusses three cases of female patients presenting typical pulmonary complications of the hyper-Ig E syndrome. In the first case, the development of aspergilloma in a postinflamatory cyst was observed, in the other one, pneumonia with pleural effusion, and as a consequence of inflammatory infiltrations – fibrotic changes, giving rise to lobectomy, while in the last of these cases, the course of lung disease was complicated by formation of staphylococcal abscess. In one of the girls, bronchiectasis appeared at follow-up. Conclusions: Complications of pulmonary infections are the most common causes of death in hyper-Ig E syndrome. Late diagnosis significantly worsens the respiratory function and reduces the chance for normal development of a child. Introduction of comprehensive treatment, including prophylaxis, decreases the recurrences. Therefore, the important role is attributed to the radiologist in the multidisciplinary care of patients with this syndrome.
Jonczyk-Potoczna, Katarzyna; Szczawinska-Poplonyk, Aleksandra; Warzywoda, Malgorzata; Breborowicz, Anna; Pawlak, Bogdan
We report a further case of trisomy 4p: a 5-year-old mentally retarded boy with characteristic facial features, eye abnormalities, flexion contractures, several bone anomalies, and hyperactivity. In a review of 27 cases (11 male, 16 female, 22 families) the cytogenetic and clinical data were tabulated and analyzed. Diagnosis is established by karyotype: there is always partial or apparently "total" trisomy of the short term arm of chromosome 4. In 19 families a parent carried either a balanced translocation (16 times) or a pericentric inversion (3 times); 3 patients had de novo duplication of 4p. In several cases, additional deletions or trisomies were present. From the analysis of all cases, but particularly of the "pure" trisomies, the phenotypic spectrum of this condition was observed and found to be a specific multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its main features are a characteristic facial appearance, postnatal growth retardation, severe psychomotor retardation with or without seizures, microcephaly, and various major and minor anomalies. PMID:416713
Gonzalez, C H; Sommer, A; Meisner, L F; Elejalde, B R; Opitz, J M
Congenital adrenal hyperplasia (CAH) is characterized by decreased adrenal hormone production due to enzymatic defects and subsequent rise of adrenocorticotrophic hormone that stimulates the adrenal cortex to become hyperplastic, and sometimes tumorous. As the pathophysiology is basically a defect in the biosynthesis of cortisol, one may not consider CAH in patients with hypercortisolism. We report a case of a 41-yr-old man with a 4 cm-sized left adrenal tumorous lesion mimicking Cushing's syndrome who was diagnosed with CAH. He had central obesity and acanthosis nigricans involving the axillae together with elevated 24-hr urine cortisol level, supporting the diagnosis of Cushing's syndrome. However, the 24-hr urine cortisol was suppressed by 95% with the low dose dexamethasone suppression test. CAH was suspected based on the history of precocious puberty, short stature and a profound suppression of cortisol production by dexamethasone. CAH was confirmed by a remarkably increased level of serum 17-hydroxyprogesterone level. Gene mutation analysis revealed a compound heterozygote mutation of CYP21A2 (I173N and R357W).
Kim, Hye Jeong; Kang, Mira; Kim, Jae Hyeon; Kim, Sun Wook; Chung, Jae Hoon; Min, Yong-Ki; Lee, Moon-Kyu; Kim, Kwang-Won
Congenital adrenal hyperplasia (CAH) is characterized by decreased adrenal hormone production due to enzymatic defects and subsequent rise of adrenocorticotrophic hormone that stimulates the adrenal cortex to become hyperplastic, and sometimes tumorous. As the pathophysiology is basically a defect in the biosynthesis of cortisol, one may not consider CAH in patients with hypercortisolism. We report a case of a 41-yr-old man with a 4 cm-sized left adrenal tumorous lesion mimicking Cushing's syndrome who was diagnosed with CAH. He had central obesity and acanthosis nigricans involving the axillae together with elevated 24-hr urine cortisol level, supporting the diagnosis of Cushing's syndrome. However, the 24-hr urine cortisol was suppressed by 95% with the low dose dexamethasone suppression test. CAH was suspected based on the history of precocious puberty, short stature and a profound suppression of cortisol production by dexamethasone. CAH was confirmed by a remarkably increased level of serum 17-hydroxyprogesterone level. Gene mutation analysis revealed a compound heterozygote mutation of CYP21A2 (I173N and R357W). PMID:23166432
Kim, Hye Jeong; Kang, Mira; Kim, Jae Hyeon; Kim, Sun Wook; Chung, Jae Hoon; Min, Yong-Ki; Lee, Moon-Kyu; Kim, Kwang-Won; Lee, Myung-Shik
We describe here the case of a 39-year-old woman with a cortisol-producing adrenal adenoma and she presented with endometrial hyperplasia and hypertension without the specific characteristics of Cushing's syndrome. The patient had consulted a gynecologist for menometrorrhagia 2 years prior to her referral and she was diagnosed with endometrial hyperplasia and hypertension. Her blood pressure and the endometrial lesion were refractory despite taking multiple antihypertensives and repetitive dilation and curettage and progestin treatment. On admission, the clinical examination revealed mild central obesity (a body mass index of 22.9 kg/m2, a waist circumference of 85 cm and a hip circumference of 94cm), but there was no hirsutism and myopathy. She showed impaired glucose tolerance on an oral glucose tolerance test. The biochemical hypercortisolemia together with the prolactin and androgen levels were evaluated to explore the cause of her anovulation. Adrenal Cushing's syndrome was confirmed on the basis of the elevated urinary free cortisol (454 µg/24h, normal range: 20-70) with a suppressed ACTH level (2.0 pg/mL, normal range: 6.0-76.0) and the loss of circadian cortisol secretion. A CT scan revealed a 3.1 cm, hyperechoic, well-marginated mass in the left adrenal gland. Ten months post-adrenalectomy, the patient had unintentionally lost 9 kg of body weight, had regained a regular menstrual cycle and had normal thickness of her endometrium.
Lee, Sang Min; Jung, Tae Sik; Jung, Jung Hwa; Kang, Mi Yeon; Kim, Sun Joo; Chung, Soon Il
A chronic pain patient prescribed 20 mg of methadone per day was seen at the Emergency Department within one hour following a witnessed intentional 200 mg ingestion. In addition, he was taking the serotonin re-uptake inhibitor antidepressant drugs, sertraline and venlafaxine as prescribed. Methadone is also a serotonin re-uptake inhibitor which has been involved in serotonin toxicity reactions. Initially, no symptoms of narcotic overdose (depressed central nervous system, respiration, or blood pressure) could be distinguished, and the standard narcotic urine screen was negative. No decontamination or antagonist therapy was given, and the patient was discharged to a psychiatric unit for observation. At 5 hours post-ingestion he presented in a panic with hallucinations and elevated blood pressure, pulse, and respiration. These symptoms are characteristic of serotonin syndrome which is often described as mental status changes, autonomic hyperactivity, and neuromuscular abnormalities. At 10 hours post-ingestion the patient was found unconscious. He had aspirated stomach contents into his lungs. His respiration, blood pressure, and pulse were all severely depressed. He never regained conciousness, and he died 5 days later. The medical examiner's finding was probable acute methadone intoxication. In this case serotonin syndrome appears to have opposed and delayed typical narcotic symptoms. Methadone has additional pharmacologic and toxicologic properties which may complicate the assessment and treatment in overdose situations. PMID:19544673
Martinez, Terry T; Martinez, Daniel N
First bite syndrome (FBS) has recently been recognized in published medical studies; however, only 2 cases have been reported in dental studies. The syndrome was defined by Netterville and Civantos and Netterville et al as originating from a postoperative complication after parapharyngeal space (PPS) surgery. The most frequent reason for PPS surgery is the presence of a deep lobe parotid gland (PG) neoplasm, with cervical schwannoma the second most common lesion mandating surgery in this space. Surgical therapeutic procedures in the PPS for these tumors can inadvertently ablate the sympathetic nerve supply to the PG. Subsequently, with the first introduction of food into the mouth, severe intense and debilitating pain will develop and radiate through the upper neck, PG, and auricular regions on the ipsilateral surgical side. The intense pain will last approximately 5 seconds.With continued mastication, the pain will subside, but not totally abate. After the meal, the pain will gradually disappear, only to return with the next masticatory period. The pain is initiated by salivation, whether by food or the thought of food and will be accentuated by acidic sialogogic foods. Usually, with the passage of time, some gradual improvement in the intensity and frequency of the pain episodes can be anticipated. PMID:24685123
Houle, Ashley; Mandel, Louis
A case is presented of a 35-year-old woman diagnosed with platybasia associated with Klippel-Feil syndrome type I. She was admitted to University Department of Neurology for clinical examination because of walking difficulties, dizziness, and intermittent vision disturbances. Neurological examination revealed a predominance of cerebellar symptomatology. Relevant diagnostic work-up included craniogram, cervical spine x-ray, computed tomography (CT) of the brain and craniocervical junction, magnetic resonance imaging of the brain, electroencephalography, ophthalmologic examination, urinary tract ultrasonography, laboratory tests, and psychological testing. CT of the craniocervical junction showed platybasia, congenital fusion of the second and third cervical vertebrae, and basilar invagination of dens axis. Platybasia is leveling of the angle between the floor of the anterior cranial fossa and posterior cranial fossa in the area of sella turcica, which is normally at 115-140 degrees. Basilar impression or invagination is moving up of the basis of the occiput and occipital condyles into the cranium, which means that the borders of the foramen magnum, condyles and adjacent bone are invaginated into the posterior fossa. Klippel-Feil syndrome type II is massive fusion of two of seven cervical vertebrae associated with short neck and low hair line. PMID:23115951
Alajbegovi?, Azra; Kovac, Fehma; Delilovi?-Vrani?, Jasminka; Tiri?-Campara, Merita; Alajbegovi?, Salem
Chorea gravidarum (CG) is a rare movement disorder characterized by rapid, irregular randomly distributed involuntary movements during pregnancy. Similar to Sydenham chorea, psychiatric symptoms may be observed in cases of CG. CG may be idiopathic or secondary to an underlying cause. One of the most common causes of CG is antiphospholipid syndrome. Herein we present a case of recurrent CG that was considered to be due to antiphospholipid syndrome. The patient had a history of 3 pregnancy losses and her fourth pregnancy was treated appropriately, resulting in the birth of healthy full-term baby. During the patient's first pregnancy CG was accompanied by psychotic symptoms and was misdiagnosed as conversion disorder. PMID:24310096
Kuz Tek?ut, Tuba; Ozcan, Halil; I??k, Mein; Karsl?, Fatih
Summary A case of Klinefelter's syndrome associated with progressive systemic sclerosis (PSS) is described. The patient had been infertile for 20 years after marriage and was diagnosed as PSS with Klinefelter's syndrome at the age of 43. In reviewing the literature, we observed that five cases with PSS within the range of 41 to 61 years of age, and seventeen
S. Kobayashi; T. Shimamoto; O. Taniguchi; H. Hashimoto; S. Hirose
The paper describes four cases of trisomy 18 or Edwards' syndrome observed in the Pediatric Division of SS. Annunziata Hospital, Savigliano (CN) between 1/1/79 and 31/12/88. Following an illustrated description of the cases (3 males and 1 female), the epidemiological and clinical aspects of the syndrome are briefly discussed. PMID:1870543
Giaccardi, A; Sardi, R; Priora, U; Vivalda, M; Domeneghetti, G; Girone, P
This study explains the characteristics and treatment of individuals with Rett Syndrome and presents two case studies that investigated the use of interventions in reducing stereotypical hand movements (SHM). The case studies involve two girls (ages 5 and 7) with Rett Syndrome who were enrolled in a special education school. Information was…
Lotan, Meir; Roth, Dana
Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order. We report a case of a 12 year old child and a mother showing variations in the dentofacial tissues clinically and radiographically. Subsequently, the application of digital software [Dolphin Imaging 11] enabled us to solve out the case as Crouzon syndrome by analyzing the skeletal and soft tissue alterations. An update of the effects of this syndrome on various systems and dentofacial features with emphasis on tooth abnormalities is documented. PMID:22016316
Nagaraju, K; Ranadheer, E; Suresh, P; Tarun, S P
Introduction Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. Case presentation We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and hyperaldosteronism. The patient's evolution showed progressive insufficiency of the renal tubule: hyperphosphaturia, hyperaminoaciduria and, later, glucosuria (de Toni-Debré-Fanconi syndrome), a syndrome, to date, rarely diagnosed in association with complete Kearns-Sayre syndrome. The final diagnosis was delayed for several years and was only established when he developed diabetes mellitus. Southern blot analysis and polymerase chain reaction amplification revealed the presence of a deletion in the mitochondrial DNA. Conclusion Despite the rarity of this syndrome, the diagnosis was easily made due to the presence of the classic triad: external ophthalmoplegia, pigmentary retinopathy and onset in a patient younger than 20 years old. In our opinion, a search for Kearns-Sayre syndrome in all patients with de Toni-Debré-Fanconi syndrome is a valuable medical routine.
Introduction The yellow nail syndrome is usually described as the combination of yellow nails with lymphoedema and often with respiratory manifestations such as pleural effusions, chronic sinusitis and bronchiectasis. The syndrome is most often seen in the middle-aged individuals. Case presentation We present a 6-year-old girl with yellow nail syndrome having pansinusitis and bronchiectasis. Conclusion The components comprising the classical triad of yellow nail syndrome in children may not necessarily be present altogether. Therefore, yellow nail syndrome should be suspected in children having only typical nail changes.
Turcot syndrome is an autosomal recessive disorder clinically characterized by the occurrence of primary tumors of the central nervous system and adenomatous colonic polyps during the first or second decades of life, with a spectrum of clinical features such as "café-au-lait" spots, axillary freckling, and hyperpigmented spots. Currently its prevalence globally and in Colombia remains unknown. We present the case of a 20-year-old male with a clinical presentation of both glioblastoma multiforme and multiple adenomatous colonic polyps. The molecular genetics study revealed a mutation in Kras(Asp12) gene and altered expression of HMSH2 and HMSH6 proteins encoded by the DNA mismatch repair genes in two of the colonic polyps. Even though this clinical presentation may suggest a shorter survival rate, this patient is still alive after seven months of treatment. A literature review complements this report. PMID:23320220
Dora, Vallejo; Diego, Garnica; Rómulo, Bonilla; Natalia, Olaya
Introduction To raise awareness among health care workers of the risk of withdrawal symptoms after longstanding and intense abuse of gamma-hydroxybutyric acid. Case presentation A 23 year old Caucasian woman presented with gamma-hydroxybutyric addiction and withdrawal syndrome. The symptoms of gamma-hydroxybutyric withdrawal in this patient initially went unrecognized, upon which her situation deteriorated in such a way that she needed to be admitted to the Intensive Care Unit for airway protection and mechanical ventilation. Treatment with high doses of benzodiazepines led to liberation of the ventilator and further recovery. Conclusion Withdrawal symptoms of gamma-hydroxybutyric addiction are often not well recognized and the responsible physicians at Emergency Department, Intensive Care Unit and the Psychiatry ward need better understanding of diagnose and treatment. Gamma-hydroxybutyric acid withdrawal is potentially life threatening and its management may require a multidisciplinary approach. Early recognition of gamma-hydroxybutyric acid withdrawal may lead to better management of these patients.
Addison's disease or primary adrenal insufficiency (PAI) is a rare manifestation of antiphospholipid syndrome (APS). PAI is the most common among the endocrinologic manifestations and can also rarely be the presenting symptom of APS. Venous thrombosis and/or adrenal hemorrhage are the leading cause of PAI in APS. Autoimmune adrenal failure is postulated to be another possible mechanism. We report a case of PAI in a 44-year-old lady preceding primary APS, probably autoimmune, without any evidence of adrenal hemorrhage or infarction. High index of clinical suspicion for PAI in APS is needed; conversely APS should be considered as a possible pathogenetic process in patients presenting with Addison's disease where the etiology is not obvious. PMID:24251177
Sanyal, Debmalya; Raychaudhuri, Moutusi
Ogilvie's syndrome [acute colonic pseudo-obstruction (ACPO)] presents as massive colonic dilatation without a mechanical cause, usually in critically ill patients due to imbalanced sympathetic and parasympathetic activity. The initial therapy remains conservative with supportive measures (correction of metabolic, infectious or pharmacologic factors) followed by neostigmine and decompressive colonoscopy. Surgery is reserved for patients with clinical deterioration or with evidence of colonic ischemia or perforation. A 60-year-old lady presented with fever, altered sensorium, obstipation, bradycardia and abdominal distension. Investigation revealed hyponatremia and acute colonic pseudo-obstruction. Supportive measures and decompressive colonoscopy were not of great benefit. Thyroid profile was suggestive of primary hypothyroidism. Colonic motility was restored only on starting thyroxin. The case is illustrative of the need to consider hypothyroidism, a common endocrine disorder, in the differential diagnosis of Ogilvie's.
Yanamandra, Uday; Kotwal, Narendra; Menon, Anil; Nair, Velu
Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family (father, two daughters, three sons, and six grandchildren) had MFS. Lens ectopia was the most common ophthalmic involvement among the family (100%). Other ocular involvements were as follows; Hypoplastic iris or ciliary’s muscle hypoplasia (50%), on gated eyeball (42%), flat cornea (30%), glaucoma and cataract (25%), retinal detachment (16%). Three members of the family underwent eye surgery including lens extraction, glaucoma surgery and retinal surgery.
Davari, Mohammad Hossein; Kazemi, Toba
The term Marine-Lenhart syndrome describes the association between Graves' disease and autonomously functioning thyroid nodules (AFTN), such as toxic adenoma or toxic multinodular goiter. The two diseases may coexist or may be present at different moments in the same patient. In the literature, there are many reports on the development of Graves' disease after radioiodine treatment for AFTN, but very little information may be found on the occurrence of AFTN after radioiodine therapy for Graves' disease. We describe here the case of a female patient with Graves' disease who was successfully treated with radioiodine for Graves' disease, returning to normal thyroid function. Three years later, biochemical analysis and ultrasound examination identified a thyroid nodule that progressively increased in size. The 99mTc-pertechnetate scintigraphy showed avid uptake in the right lobule, which corresponded to a nodular lesion consistent with AFTN. PMID:24936736
Giuffrida, Giuseppe; Giovinazzo, Salvatore; Certo, Rosaria; Vicchio, Teresa Manuela; Baldari, Sergio; Campenně, Alfredo; Ruggeri, Rosaria Maddalena
Susac's syndrome (SS) is an infrequent neurological disorder characterized by the clinical triad of encephalopathy, branch retinal artery occlusion and hearing loss due to an autoimmune endotheliopathy associated with anti-endothelial cell antibodies. At the onset of the disease SS rarely appears with the complete clinical triad. The most important diagnostic procedures involved in the diagnosis of SS are brain MRI, audiometric testing and retinal fluorescein angiography. Presence of at least two components of the SS clinical triad accompanied by specific brain MRI findings is highly suggestive of SS. We report a case of a young pregnant woman with a history of encephalopathy, hearing loss and walking impairment. Brain MRI revealed a spectrum of findings previously described in patients with SS. We induced labor at 37weeks' gestation to start with immunosuppressive treatment and avoid possible fetal toxicity. To the best of our knowledge this is the first report of SS in Croatia. PMID:24768309
Antulov, Ronald; Holjar Erlic, Izidora; Perkovic, Olivio; Miletic, Damir; Antoncic, Igor
CATCH 22 Syndrome is caused by chromosome 22q11.2 microdeletion, characterized by developmental abnormalities of the third and fourth pharyngeal pouches. It has a prevalence estimated at 1:3,000-1:9,000. Most deletions occurs sporadic, but autosomal dominant inheritance observed in 6-10% of cases. CATCH22 often diagnosed due to hypocalcemia during neonatal period or decreased immunity or facial defect, so it is very rare being diagnosed CATCH22 in adulthood. We report a 57 year old female who referred to mental change due to hypocalcemia and is diagnosed CATCH22. She was presented with hypoparathyroidism, single kidney due to renal agenesis, and mild facial defect. Our patient responded well to calcium and vitamin D treatment and she is on follow-up in outpatient clinic.
Lee, Seung Kyung; Lee, Min Jeong; Lee, Hyo Jin; Kim, Bu Kyung; Sohn, Young Bae
Ballantyne's syndrome also known as Mirror syndrome is the association of fetal hydrops and maternal hydric retention. The maternal condition is often misdiagnosed as preeclampsia. We report two cases of Ballantyne syndrome associated with materno-fetal Parvovirus B19 infection. In the first case, the syndrome occurred at 26GW in a context of premature rupture of membranes. Parents and medical staff opted for termination of pregnancy because of the poor fetal prognosis. Maternal symptoms regressed after delivery. In the second case, the patient presented a Ballantyne's syndrome at 25GW. Intrauterine transfusions reversed symptomatology. Fetal hydrops of any etiology can be associated with this syndrome. Specific treatment of the fetus can avoid maternal complication allowing continuation of the pregnancy. PMID:21273007
Desvignes, F; Bourdel, N; Laurichesse-Delmas, H; Savary, D; Gallot, D
We report a 72-year-old woman with overlapping Miller Fisher syndrome (MFS), Guillain-Barré syndrome (GBS) and Bickerstaff's brainstem encephalitis (BBE). She developed diplopia and unsteady gait a week after an upper respiratory infection on day 1. She had weakness of both upper limbs on day 3 and became drowsy, and her respiratory status worsened on day 5. Neurologic examination revealed ophthalmoplegia, ataxia, symmetrical weakness, areflexia, and consciousness disturbance. We diagnosed her with MFS on day 1, GBS on day 3 and overlapping BBE on day 5. She underwent immunoadsorption therapy and two courses of intravenous immunoglobulin therapy. Ten months after onset, her symptoms had fully recovered. Anti-GM1 IgG, GD1a IgG, GQ1b IgG, and GT1a IgG antibodies were positive. Our case supports the notion that MFS, GBS, and BBE are all part of a continuous clinical spectrum, which is an antibody-mediated process. PMID:23275783
Fujii, Daiki; Manabe, Yasuhiro; Takahasi, Yosiaki; Narai, Hisashi; Omori, Nobuhiko; Kusunoki, Susumu; Abe, Koji
We report a 72-year-old woman with overlapping Miller Fisher syndrome (MFS), Guillain-Barré syndrome (GBS) and Bickerstaff's brainstem encephalitis (BBE). She developed diplopia and unsteady gait a week after an upper respiratory infection on day 1. She had weakness of both upper limbs on day 3 and became drowsy, and her respiratory status worsened on day 5. Neurologic examination revealed ophthalmoplegia, ataxia, symmetrical weakness, areflexia, and consciousness disturbance. We diagnosed her with MFS on day 1, GBS on day 3 and overlapping BBE on day 5. She underwent immunoadsorption therapy and two courses of intravenous immunoglobulin therapy. Ten months after onset, her symptoms had fully recovered. Anti-GM1 IgG, GD1a IgG, GQ1b IgG, and GT1a IgG antibodies were positive. Our case supports the notion that MFS, GBS, and BBE are all part of a continuous clinical spectrum, which is an antibody-mediated process.
Fujii, Daiki; Manabe, Yasuhiro; Takahasi, Yosiaki; Narai, Hisashi; Omori, Nobuhiko; Kusunoki, Susumu; Abe, Koji
HIV associated nephropathy syndrome ( HIVAN Syndrome ) is a recently identified entity and no study has been done in Senegal. So we report this observation. A 40 years old black patient was admitted for renal oedema syndrome and immunosuppressive signs. The biological investigations noticed a non-pur nephrotic syndrome and severe renal failure. Ultrasonography showed quite normal kidney sizes with hyper echogenicity and dediferenciation. HIV research was positive with 45 CD4 lymphocytes / mm3. This patient had no known causes of nephrotic syndrome ( diabetis, lupus ,amyloidosis.). So the diagnosis of HIVAN syndrome was determined with the clinical features and the bad outcome. We emphasize on the necessity to think about HIVAN in every black patient presenting a quickly progressive non-pur nephrotic syndrome. We expect prospectives studies to describe the clinical signs and the frequency of HIVAN syndrome in Senegal. PMID:15782480
Dia, D; Fall, K; Niang, A; Guibal, A; Fall, S; Dieng, M; Diallo, I; Debonne, J M
Abstract Aim: To report a rare case of Alport Syndrome (AS) highlighting the precautions and surgical complications during phacoemulsification. Method: A 35 year old female presented with bilateral painless progressive diminution of vision since 6 months and had bilateral deafness since 12 years. Best corrected visual acuity (BCVA) in both the eyes was 4/60. Bilateral anterior lenticonus, posterior polar cataract with posterior lenticonus, macular and peripheral retinal flecks, which are rarely reported in females, were present. Right eye phacoemulsification and IOL implantation was done. Result: During surgery capsulorrhexis underwent multiple dehiscence in a "flower petal pattern" due to fragile capsule. It was completed with microforceps under high viscocity viscoelastic. IOL was placed in sulcus due to extension of capsulorrhexis. BCVA was 6/12 at 1 month. Conclusion: This rare case highlights the importance of an eye ailment in revealing an important systemic disease. It also highlights proper management of complications that can give good result even in difficult cases. PMID:23952035
Mohan, Shalini; Gupta, Priyanka; Sahai, Kunal; Sachan, Surendra Kumar
The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a
Ana R Casaroto; Daniela CN Rocha Loures; Eduardo Moreschi; Vanessa C Veltrini; Cleverson L Trento; Vilmar D Gottardo; Vanessa S Lara
On the basis of their cognitive abilities, children with Asperger syndrome are attractive candidates for inclusive education and, in Australia, most are in integrated settings. However, social interaction between children with Asperger syndrome and their peers remains problematic, with the children with Asperger syndrome often being left alone…
Choi, Serene Hyun-Jin; Nieminen, Timo A.
Introduction Posterior reversible encephalopathy syndrome is a clinical and radiological entity. The most accepted theory of posterior reversible encephalopathy syndrome is a loss of autoregulation in cerebral blood flow with a subsequent increase in vascular permeability and leakage of blood plasma and erythrocytes, producing vasogenic edema. In infection-associated posterior reversible encephalopathy syndrome, a clinical pattern consistent with systemic inflammatory response syndrome develops. Parainfluenza virus has not been reported in the medical literature to be associated with posterior reversible encephalopathy syndrome. Case presentation We report herein the case of a 54-year-old Caucasian woman with posterior reversible encephalopathy syndrome associated with parainfluenza virus infection who presented with generalized headache, blurring of vision, new-onset seizure and flu-like symptoms. Conclusion Infection-associated posterior reversible encephalopathy syndrome as well as hypertension-associated posterior reversible encephalopathy syndrome favor the contribution of endothelial dysfunction to the pathophysiology of this clinicoradiological syndrome. In view of the reversible nature of this clinical entity, it is important that all physicians are well aware of posterior reversible encephalopathy syndrome in patients presenting with headache and seizure activity. A detailed clinical assessment leading to the recognition of precipitant factors in posterior reversible encephalopathy syndrome is paramount.
Background Hantavirus pulmonary syndrome (HPS) is a life threatening disease transmitted by the rodent Oligoryzomys longicaudatus in Chile. Hantavirus outbreaks are typically small and geographically confined. Several studies have estimated risk based on spatial and temporal distribution of cases in relation to climate and environmental variables, but few have considered climatological modeling of HPS incidence for monitoring and forecasting purposes. Methodology Monthly counts of confirmed HPS cases were obtained from the Chilean Ministry of Health for 2001–2012. There were an estimated 667 confirmed HPS cases. The data suggested a seasonal trend, which appeared to correlate with changes in climatological variables such as temperature, precipitation, and humidity. We considered several Auto Regressive Integrated Moving Average (ARIMA) time-series models and regression models with ARIMA errors with one or a combination of these climate variables as covariates. We adopted an information-theoretic approach to model ranking and selection. Data from 2001–2009 were used in fitting and data from January 2010 to December 2012 were used for one-step-ahead predictions. Results We focused on six models. In a baseline model, future HPS cases were forecasted from previous incidence; the other models included climate variables as covariates. The baseline model had a Corrected Akaike Information Criterion (AICc) of 444.98, and the top ranked model, which included precipitation, had an AICc of 437.62. Although the AICc of the top ranked model only provided a 1.65% improvement to the baseline AICc, the empirical support was 39 times stronger relative to the baseline model. Conclusions Instead of choosing a single model, we present a set of candidate models that can be used in modeling and forecasting confirmed HPS cases in Chile. The models can be improved by using data at the regional level and easily extended to other countries with seasonal incidence of HPS.
Nsoesie, Elaine O.; Mekaru, Sumiko R.; Ramakrishnan, Naren; Marathe, Madhav V.; Brownstein, John S.
Deep posterior compartment syndrome is an extremely rare complication of ankle fracture and the few reported cases in the literature show that it is usually diagnosed late. Anterior and deep posterior compartment syndromes have been described with variable manifestations according to the compartment affected. We present a case of deep posterior compartment syndrome isolated to the disputed distal "subcompartment" of the leg, which had a very subtle and late presentation and was missed. The diagnosis of compartment syndrome was confirmed on MRI scan. Subsequently the patient developed a flexor hallucis longus muscle contracture that was managed nonoperatively. PMID:20537927
Piper, Kalman John; Yen-yi, Jessica Chua; Horsley, Mark
A study is reported of mathematical vocabulary and factual mathematical knowledge in PQ, a 22 year old with Down's syndrome (DS) who has a verbal mental age (MA) of 9 years 2 months and ST, a 15 year old with Williams syndrome (WS) who has a verbal MA of 9 years 6 months, matched to typically developing controls. The number of mathematical words contained within PQ's lexical stores was significantly reduced as reflected by performance on lexical decision. PQ was also impaired at both naming from descriptions and describing mathematical words. These results contrast with normal lexical decision and item descriptions for concrete words reported recently for PQ (Robinson and Temple, 2010). PQ's recall of mathematical facts was also impaired, whilst his recall of general knowledge facts was normal. This performance in DS indicates a deficit in both lexical representation and semantic knowledge for mathematical words and mathematical facts. In contrast, ST, the teenager with WS had good accuracy on lexical decision, naming and generating definitions for mathematical words. This contrasted with the atypical performance with concrete words recently reported for ST (Robinson and Temple, 2009). Knowledge of addition facts and general knowledge facts was also unimpaired for ST, though knowledge of multiplication facts was weak. Together the cases form a double dissociation and provide support for the distinct representation of mathematical and concrete items within the lexical-semantic system during development. The dissociations between mathematical and general factual knowledge also indicate that different types of factual knowledge may be selectively impaired during development. There is further support for a modular structure within which mathematical vocabulary and mathematical knowledge have distinct representations. This supports the case for the independent representation of factual and language-based knowledge within the semantic system during development. PMID:22208902
Robinson, Sally J; Temple, Christine M
OBJECTIVES: Familial steroid-sensitive idiopathic nephrotic syndrome is rare, and only approximately 3% of patients have affected siblings. METHODS: Herein, we report seven cases of patients with steroid-sensitive idiopathic nephrotic syndrome from three Chinese families. Mutational screening of the Nphs2 gene was performed in all the patients. RESULTS: All seven of the familial steroid-sensitive idiopathic nephrotic syndrome cases in our sample exhibited minimal change disease, and one case also presented with mesangial proliferative glomerulonephritis, according to the renal pathology. No significant was associations were found between Nphs2 gene mutations and the onset of proteinuria and nephrotic syndrome in these familial cases. CONCLUSIONS: The presence of minimal change disease is important, but it is not an unusual finding in patients with familial steroid-sensitive idiopathic nephrotic syndrome, which appears to be clinically benign and genetically distinct from other types of nephrosis.
Xia, Yonghui; Mao, Jianhua; Jin, Xia; Wang, Wenjing; Du, Lizhong; Liu, Aimin
Peutz-Jeghers syndrome (PJS), which is characterized by multiple hamartomatous polyps of the gastrointestinal tract and mucocutaneous pigmentation, is a rare autosomal dominant disease. This syndrome is often represented as a surgical emergency with complications of the polyps such as intussusception, small bowel obstruction, bleeding, and volvulus. In particular, many studies have reported that patients with this syndrome have a high risk of gastrointestinal or extragastrointestinal malignancy including gastric, duodenal, jejunal, ileal, and colonic carcinoma as well as malignancies involving other organs such as the gallbladder, biliary tract, pancreas, tonsils, breast, and reproductive system. However, there are few reported cases of an association of this syndrome with extraintestinal malignancy. In addition to that, there is no reported case of this syndrome with malignant tumor or intraductal papillary mucinous tumor of pancreas in Korea. We experienced a case of PJS accompanying intraductal papillary mucinous carcinoma of the pancreas, therefore we report this case with literatures reviewed. PMID:20098071
Goh, Pyung Gohn; Moon, Hee Seok; Sung, Jae Kyu; Jeong, Hyun Yong; Song, Kyu Sang
Background Sjögren’s syndrome can involve the central nervous system; however, spontaneous intracranial hemorrhage has rarely been reported as the initial manifestation. Case presentation We report a 39-year-old woman with primary Sjögren’s syndrome presenting with intracranial hemorrhage. The diagnosis of primary Sjögren’s syndrome was based on the presence of ocular dryness, salivary gland secretory and excretory dysfunction confirmed with dynamic tracer emission CT, and positive anti-Sjögren’s syndrome A and anti-Sjögren’s syndrome B antibodies. Conclusion Primary Sjögren’s syndrome can present with variable central nervous system signs, which may precede the classic sicca symptoms. Therefore, Sjögren’s syndrome-associated indicators should be investigated in patients without the common risk factors for stroke who present with spontaneous intracranial hemorrhage.
Background Crowned dens syndrome (CDS), related to microcrystalline deposition in the periodontoid process, is the main cause of acute or chronic cervical pain. Microcrystal-line deposition most often consists of calcium pyrophosphate dehydrate crystals and/or hydroxyapatite crystals. Case Presentation This report describes the case of an 89-year-old woman who presented with sudden onset, high fever, severe occipital headache, and neck stiffness. A laboratory examination revealed a markedly elevated white blood cell count (11,100/µl) and C-reactive protein level (23.8 mg/dl). These clinical findings suggested severe infection such as meningitis with sepsis. However, the results of blood culture, serum endotoxin, and procalcitonin were all negative, and cerebrospinal fluid studies revealed only a slight abnormality. The patient was first diagnosed with meningitis and treated with antiviral and antibiotic agents as well as non-steroidal anti-inflammatory drugs, but they only had limited effects. A cervical plain computed tomography (CT) scan and its three-dimensional (3D) reconstruction detected a remarkable crown-like calcification surrounding the odontoid process. On the basis of the CT findings, the patient was diagnosed as a severe case of CDS and was immediately treated with corticosteroids. The patient's condition drastically improved within a week after one course of corticosteroid therapy. Conclusion Some atypical symptoms of CDS are misleading and may be misdiagnosed as meningitis, as happened in our case. A CT scan, especially a 3D-CT scan, is necessary and useful for a definitive diagnosis of CDS. CDS should be considered as a differential diagnosis of a possible etiology for fever, headache, and cervical pain of unknown origin.
Takahashi, Teruyuki; Minakata, Yugo; Tamura, Masato; Takasu, Toshiaki; Murakami, Marohito
Churg-Strauss syndrome (CSS) is a vasculitis syndromes and is only rarely complicated by subarachnoid hemorrhage. In the current report, we describe a case of CSS with subarachnoid hemorrhage, which showed a favorable outcome following conservative treatment. A 68-year-old man with CSS on maintenance steroid therapy underwent MRI/A during tinnitus aggravation, and showed dilation of the left middle cerebral artery and stenosis of the peripheral area of the right vertebral artery. After 2 months, he presented sudden pain in the occipitocervical area, and CT revealed subarachnoid hemorrhage. Intracranial 3D CT-A and MRI/A showed the development of a protrusion at the base of the left anterior cerebral artery. Although both findings suggested cerebral artery dissection, the source of hemorrhage could not be identified. The 2009 Japanese Guidelines for the Management of Stroke recommends early diagnosis and treatment of hemorrhagic cerebral artery dissection because of the high risk of re-bleeding. However, considering the risks of vasculitis aggravation, development of systemic complications, and recurrence, conservative treatment was selected. In addition, owing to the risk of complications associated with the frequent use of iodinated contrast agents and angiography procedures, patient was followed up using MRI. His course was favorable, and he was discharged despite mild right abducens paralysis. When patients with hemorrhagic cerebral artery dissection have a history of allergic diseases, CCS should be considered; conservative treatment consisting of rest, strict blood pressure control, and steroid therapy may be the most appropriate option for certain patients. PMID:24607952
Ito, Miiko; Kato, Naoki; Su, Ching-Chan; Kayama, Takamasa
The tethered spinal cord syndrome is a disease that is part of the group of spinal dysraphisms, that was recently recognized as an individualized nosological entity, yet not frequently diagnosed among us. It is characterized by shortening and thickening of the filum terminale which prevents the ascent of the spinal cord into spinal canal, the conus medularis abnormally remaining in a low place. It is associated in all cases with spina bifida. The diagnosis is simple, once the disease is suspected. It is manifested by progressive motor or sensory deficit in the legs, urinary incontinence, scoliosis and leg or back pain, specially in young children. The plain lumbosacral RX always shows spina bifida. Myelography makes the diagnostic. It shows, basically, the negative image of the thickened filum terminale and the low placed conus medularis. Other exams which can help are the computerized tomography and the ultra-sound of the spinal cord. The surgical treatment is very simple and heals without sequels if done in due time. It consists in a sectioning of the filum terminale through laminectomy. Two cases diagnosed and treated at Hospital da Baleia, from Fundaçăo Benjamin Guimarăcs, Belo Horizonte, are reported in this paper. PMID:3541862
Machado, M A; Lemos, S; De Morais, J V
Chronic post-hypoxic myoclonus, also known as Lance-Adams syndrome (LAS), is a rare complication of successful cardiopulmanry resuscitation often accompanied by action myoclonus and cerebellar ataxia. It is seen in patients who have undergone a cardiorespiratory arrest, regained consciousness afterwards, and then developed myoclonus days or weeks after the event. Worldwide, 122 cases have been reported in the literature so far, including 1 case of Chinese. Here we report 2 Chinese LAS patients with detailed neuroimagings. Cranial single photon emission computed tomography (SPECT) of patient 1, a 52-year-old woman, showed a mild hypoperfusion in her left temporal lobe, whereas patient 2, a 54-year-old woman, manifested a mild bilateral decrease of glucose metabolism in the frontal lobes and a mild to moderate decrease of the N-acetyl aspartate (NAA) peak in the bilateral hippocampi by cranial [18F]-fluorodeoxyglucose positron emission tomographic (PET) scan and cranial magnetic resonance spectroscopy (MRS), respectively. We also review the literature on the neuroimaging, pathogenesis, and treatment of LAS.
Zhang, Yan-xing; Liu, Jian-ren; Jiang, biao; Liu, Hui-qin; Ding, Mei-ping; Song, Shui-jiang; Zhang, Bao-rong; Zhang, Hong; Xu, Bin; Chen, Huai-hong; Wang, Zhong-jin; Huang, Jian-zheng
West syndrome a rare, severe form of epilepsy occurs in early infancy. It is characterized by a triad consisting of infantile spasms that occurs in clusters, arrest of psychomotor development and hypsarrhythmia on electroencephalogram. We present here two cases of west syndrome where patients required dental care due to the presence of certain dental findings. Preventive measurements such as controlled diet and proper oral hygiene along with professional dental management are recommended in patients with west syndrome to avoid dental problems. PMID:24739920
Khatri, Amit; Kalra, Namita; Tyagi, Rishi; Baweja, Mani; Khandelwal, Deepak
Two brothers of normal not consanguineous parents, with bilateral intrabdominal cryptorchidism, were admitted to our Institution. Both children had short stature, limb and hand malformations and craniofacial patterns of Robinow syndrome. During the orchidopexy, bilateral epididymal and vasal abnormalities were found in both of them. This anomaly associated with Robinow syndrome has never been reported before. These two cases provides the Authors with the opportunity of reviewing clinical features, genetics and radiological patterns of this rare syndrome. PMID:9312747
Fabbro, M A; D'Agostino, S; Costa, L; Musi, L; Cappellari, F
The International Aicardi-Goutičres Syndrome Association (IAGSA) was founded in 2000, its aim being to collect and analyse all available information on this rare syndrome (whose true incidence is not known) in order to increase knowledge of the pathology and the number of reported cases.We analysed the clinical, neuroradiological and biological characteristics of 21 new Aicardi-GoutiÉres syndrome subjects (seven observed directly
GIOVANNI LANZI; ELISA FAZZI; STEFANO D'ARRIGO
Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. Magnetic resonance imaging showed demyelinating disease in one of these cases. Electrodiagnostic studies were normal in all cases.
Moghaddam, Farid Rezaei; Safar, Farid; Soltani, Zahra Reza; Zade, Fatemeh Dehghani
This report describes 2 cases died from acute compartment syndrome after surgical treatment. Case 1 was a 30-year-old man suffered from upper arm fracture, who complicated with the acute compartment syndrome at the following day after surgical fixation, and died 6 days later. Case 2 was a 9-year-old woman sustained medial malleolus sprain, who experienced plaster cast immobilization and died
Bao-Li Zhu; Rui Zhao; Ru-Bo Li; Xu Wu; Da-Wei Guan; Guo-Hua Zhang
The myelodysplastic syndromes (MDS) are often diagnosed in outpatient clinics and may be under-reported to state cancer registries, which predominantly rely on hospital records and laboratory reports. We used a new method of cancer case capture to determine the rate of missed cases and estimate a more accurate incidence of MDS. Using a unique keyword algorithm, we queried all electronic pathology (E-path) reports sent to the state of Florida cancer registry in 2006 to identify potential MDS cases. A stratified, random sample of E-path reports was then reviewed to confirm diagnosis and assign MDS subtype. Characteristics were compared between captured and uncaptured MDS cases. 7111 E-path reports with MDS keyword hits were identified, of which only 18% linked to a registered MDS case, 47% linked to a different cancer, and 34% did not link with any record. Case review of a stratified, random sampling of 285 individuals led to the discovery that uncaptured cases made up 37.7% of the total true MDS cases in 2006. It is estimated that the true incidence of MDS is 5.3 individuals out of 100,000, compared to previous reports of 3.3 out of 100,000. Uncaptured MDS cases were younger and more likely to have information in the pathology report facilitating MDS subtype assignment. Only two-thirds of true MDS cases are captured in Florida using current case-finding mechanisms. Application of a keyword search strategy to identify cases among E-path reports is a feasible technique to improve MDS case ascertainment. PMID:24280283
Cogle, Christopher R; Iannacone, Michelle R; Yu, Daohai; Cole, Ashley L; Imanirad, Iman; Yan, Lulu; Mackinnon, Jill A; List, Alan F; Rollison, Dana E
Horner’s syndrome is a rare complication after video-assisted thyroidectomy (VAT). We present two cases of thyroid microcarcinoma who presented with Horner’s syndrome on day 2 after surgery. Ultrasonography showed no hematoma or fluid collection in the surgical field. For the first case, the symptoms were much relieved 4 months later. However, the right pupil remained smaller. For the second case, the symptoms were relieved 3 days later. The symptoms were caused by local trauma to the sympathetic chain and likely occurred during retraction of the carotid sheath. Surgeons should be aware of the possibility of Horner’s syndrome after VAT.
Gradenigo's syndrome is a rare but life threatening complication of acute otitis media (AOM), which includes a classic triad of otitis media, deep facial pain and ipsilateral abducens nerve paralysis. The incidence of Fusobacterium necrophorum infections has increased in recent years. We describe two cases of Gradenigo's syndrome caused by F. necrophorum. Additional four cases were identified in a review of the literature. Gradenigo's syndrome as well as other neurologic complications should be considered in cases of complicated acute otitis media. F. necrophorum should be empirically treated while awaiting culture results. PMID:24315216
Heshin-Bekenstein, Merav; Megged, Orli; Peleg, Uri; Shahroor-Karni, Sarit; Bass, Roman; Benifla, Moni; Bar-Meir, Maskit
Gorlin-Goltz syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is an infrequent multisystem disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterised by keratocystic odontogenic tumours (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographical examinations in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article describes an 11-year-old boy with GS. PMID:23814215
Mohan, Ravi Prakash Sasankoti; Verma, Sankalp; Agarwal, Neha; Singh, Udita
Susac's syndrome is an uncommon neurologic disorder, consisting of the clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss. We report a case of a sudden vision and hearing impairment in a 35-year-old female patient. Magnetic resonance imaging of the brain revealed multiple lesions in the white matter and the corpus callosum, typical of Susac's syndrome. PMID:23652712
Randakevi?ien?, Goda; Gleiznien?, Rymant?; Nylander, R?ta
Summary: Susac syndrome is a rare disease of unknown pathogenesis. It is caused by a microangiopathy affecting the arterioles of the brain, retina, and cochlea, giving the classic clinical triad of subacute encephalopathy, visual loss secondary to retinal branch occlusions, and sensori- neural hearing loss. The features of four cases of this syndrome are presented. MR imaging, retinal fluorescein angiography,
Christiane Fisch; Francois Evoy
INTRODUCTION: Streptococcal toxic shock syndrome is a complication of group A streptococcal infection, most often originating from the skin. The syndrome is characterized by fever, hypotension and multiple organ failure. Mortality rate may be as high as 80%. CASE PRESENTATION: A 25-year-old man of Indian origin presented with abdominal complaints, rash and fever after an episode of pharyngitis. The patient
Henrik Endeman; David A Ligtenstein; Heleen M Oudemans-van Straaten
Patients with Klippel-Feil syndrome have an increased incidence of supra-aortic arch anomalies. The present report presents the case of a patient who, during evaluation of his carotid arteries for nonspecific symptoms, was found to have an anomaly of the supra-aortic branches and Klippel-Feil syndrome.
Sudhakar, Ayilam S; Nguyen, Vinh T; Chang, John B
The ophthalmic histopathology is detailed in a case of trisomy 18 (Edwards's syndrome). In addition to the ocular pathology already reported, previously unreported findings of iris stromal hypoplasia, abnormal lens shape, and decreased ganglion cells in the retina are noted. The ophthalmic histopathology associated with this syndrome and the relationship of several genetic disorders to their ocular manifestations are discussed. Images
Calderone, J P; Chess, J; Borodic, G; Albert, D M
The developmental history of a 14-year-old male with Klinefelter's syndrome (XXXXY) is described. A review of the XXXXY literature focuses on the physical complications and the mental deficiency associated with this syndrome. This case study describes an individual whose physical development is consistent with many patterns described in the XXXXY literature, although his retardation is not as severe as generally
Margaret K. Sheridan; Sara Radlinski
Angiosarcomas are rare, aggressive vascular malignancies of endothelial cell differentiation. Kasabach-Merritt syndrome is a rare condition defined by the association of thrombocytopenia and consumption coagulopathy with specific vascular tumors, such as tufted angioma or kaposiform hemangioendothelioma. We report here two cases of angiosarcomas complicated by a Kasabach-Merritt syndrome and their outcome after treatment with paclitaxel. PMID:23980686
Grellety, Thomas; Italiano, Antoine
A case of an institutionalized adult male with Down syndrome and hyperthyroidism is reported. After treatment with radioactive iodine, he was found to be markedly hypothyroid when he was reviewed 11 weeks later. Three treatment options for hyperthyroidism in Down syndrome are reviewed: surgery, medical treatments, and radiotherapy. (Author/CR)
Ali, Fawzi E.; Al-Busairi, Waleed A.; Al-Mulla, Fatema A.
The authors describe a rare case of Goldenhar-Gorlin Syndrome, also called oculoauriculovertebral dysplasia (OAV) or hemifacial microsomia. Goldenhar's syndrome was accompanied by hearing loss caused by deformity of the auricle and atresia of the external auditory canal. PMID:10689927
Obrebowski, A; Kra?ny, J; Wojnowski, W; Kurywczak-Grykiel, K
Cardiac myxomas are rare tumors. They usually appear as a sporadic isolated condition in the left atrium of middle-aged women with no other coincidental pathology. Carney and others have described in young people a special complex group of cardiac myxomas associated to a distinctive complex pathology, giving identity to the “Syndrome Myxoma” or “Carney’s Syndrome”. Four additional cases of this
A. Edwards; C. Bermudez; G. Piwonka; M. L. Berr; J. Zamorano; E. Larrain; R. Franck; M. Gonzalez; E. Alvarez; E. Maiers
BACKGROUND: To identify risk factors for sudden infant death syndrome relevant in Lithuania. METHODS: A nationwide case-control study surveying parents of 35 infants who died from sudden infant death syndrome during the period of 1997–2000 and parents of 145 control infants matched with SIDS infants for date of birth and for region of birth was carried out. RESULTS: Deaths incidence
Vilija Bubnaitien?; Ramun? Kal?dien?; Rimantas K?valas
The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported.
Caldas, Amadeus Lima Rocha; Rodrigues, Mecciene Mendes
A case of mesenteric vein thrombosis presenting as gastrointestinal hemorrhage in a patient with Klinefelter's syndrome is reported, an association not previously described. The diagnosis was made preoperatively and was confirmed by angiography. The patient underwent a small bowel resection and made an uneventful recovery. A possible association between Klinefelter's syndrome and a hypercoagulable state, previously suggested elsewhere, is emphasized. PMID:3257659
Murray, F E
BACKGROUND: Vulvar vestibulitis syndrome (VVS) is a chronic, persistent syndrome characterised by vestibular pain, tenderness, and erythema. The aetiology of VVS is unknown and few of the hypothesised risk factors have been tested in controlled studies. METHODS: Using a matched case-control study design, medical, sexual, health behaviour, and diet history of 28 women with VVS were compared with 50 friend
A. V. Sarma; B. Foxman; B. Bayirli; H. Haefner; J. D. Sobel
Polysplenia syndrome includes a group of congenital abnormalities involving the spleen, gastrointestinal tract, liver, and cardiovascular system. A case of severe lower limbs lymphedema occurring in a young woman with polysplenia, azygous continuation of the inferior vena cava, short pancreas, and preduodenal portal vein is reported. Lower limb lymphedema could represent a new clinical manifestation associated with polysplenia syndrome. Lymphedema
Brigitte Granel; Jacques Serratrice; Valérie Juhan; Pierre Champsaur; Claude Weiller-Merli; Xavier Pache; Laure Swiader; Patrick Disdier; Pierre-Jean Weiller
Acquired long-QT syndrome is an iatrogenic disorder, usually induced by drugs, which can cause life-threatening arrhythmias. We present a case report on an acquired long-QT syndrome with an interesting confluence of circumstances, and comment on aetiology and treatment. PMID:24724757
Van Asbroeck, P J; Huybrechts, W; De Soir, R
We report a new case of a fetus with holoprosencephaly-polydactyly syndrome, also known as pseudo-trisomy 13 syndrome, and no other apparent abnormalities except for septal agenesis of the left lung. The fetal karyotype was normal. Mutational analysis of five genes (SHH, SIX3, TGIF, ZIC2, and GLI3), which are major genes associated with holoprosencephaly, did not disclose any mutational findings. We therefore propose that the abnormalities of our fetus support the demarcation of this syndrome as an autonomous phenotype. Specific diagnostic criteria for holoprosencephaly-polydactyly syndrome need to be complemented by the absence of mutations in the major holoprosencephaly genes. PMID:22432933
Sergi, Consolato; Gekas, Jean; Kamnasaran, Deepak
Kounis syndrome is defined as the coexistence of acute coronary syndromes with situations associated with allergy or hypersensitivity, as well as anaphylactic or anaphylactoid reactions, to a variety of medical conditions, environmental and medication exposures. We report a case of Kounis-Zavras syndrome type?I?variant in the setting of aspirin-induced asthma, or the Samter-Beer triad of asthma, nasal polyps and aspirin allergy. When there is a young individual with no predisposing factors of atherosclerosis and apparent coronary lesion, with or without electrocardiography and biochemical markers of infarction, the possibility of Kounis syndrome should be kept in mind.
Prajapati, Jayesh S; Virpariya, Kapil M; Thakkar, Ashok S; Abhyankar, Atul D
The purpose of this case report is to report the orthodontic surgical treatment and subsequent dental rehabilitation in two patients with Axenfeld-Rieger syndrome. Axenfeld-Rieger syndrome is a rare autosomal dominant condition characterized by ocular, dental, craniofacial, and periumbilical abnormalities. The treatment of two patients with various anomalies in Axenfeld-Rieger syndrome is described and discussed. Early recognition of the syndrome and referral during childhood to a specialized oral and maxillofacial surgery, special dental care, and orthodontic unit provide the optimal starting point for this complex treatment. PMID:23886080
Bender, Céline A; Koudstaal, Maarten J; van Elswijk, Josephine F A; Prahl, Charlotte; Wolvius, Eppo B
Dubin-Johnson syndrome is a rare clinical entity. It shows intermittent symptoms such as chronic or intermittent jaundice, abdominal pain, weakness, nausea, vomiting, anorexia and diarrhea. Symptoms are precipitated or aggravated by pregnancy, alcoholism, surgical procedures and intercurrent disease. Chronic idiopathic jaundice is typical of Dubin-Johnson syndrome and its prognosis is good. We describe a case of prolonged cholestasis for more than 10 months caused by acute A viral hepatitis in a patient with Dubin-Johnson syndrome. It is a first report of cholestasis complicated by acute A viral hepatitis in a patient with Dubin-Johnson syndrome. PMID:22544030
Ra, Sang Ho; Sung, Se Yong; Jung, Ho Yeon; Cha, Jae Hwang; Baik, Soon Koo; Cho, Mee Yon; Kim, Moon Young
Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl whose clinical picture had started before the end of the first year of life. The patient had consistently elevated IgD levels but no mutations were found after a full-length analysis of the MVK gene. The method of MVK mutational analysis is presented in details. Treatment with canakinumab in a final single dose of 4?mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patients' quality of life during a 12-month follow-up period. The drug has been well tolerated, and no side effects were observed.
Tsitsami, Elena; Papadopoulou, Charis
Objective To describe the histopathologic findings in the temporal bones of a patient with Susac’s syndrome (SS). Background The key clinical features of SS consist of symptoms of encephalopathy, visual defects due to occlusion of branches of the retinal artery, and sensorineural hearing loss. The otopathology in SS has not been described. Material and Methods A 51-year old woman was hospitalized with severe headache, rapidly progressive encephalopathy, and bilateral low frequency sensorineural hearing loss. MRI showed lesions of the corpus callosum. Fluorescein angiography of the eyes showed focal areas of irregular retinal artery caliber and leakage from small vessels. SS was diagnosed. She died of a pulmonary embolus one month after onset of symptoms. Both temporal bones were prepared in celloidin and examined by light microscopy. Results Findings were nearly identical in both temporal bones. The apical halves of both cochleae showed widespread atrophy of structures of the cochlear duct (inner and outer hair cells, tectorial membranes, striae vasculares, spiral ligaments and spiral limbi). The apical parts of both cochleae also showed apparent occlusion of capillaries within the stria vascularis and related areas of the cochlear duct. Cochlear neurons were present in normal numbers. There was no endolymphatic hydrops. The vestibular sense organs were normal for age. Conclusions This first reported otopathologic case of SS with hearing loss showed atrophy and degeneration involving the apical halves of the cochlear duct without inflammation or infection. The findings were consistent with capillary occlusion as being responsible for the atrophy.
Francis, Howard W.; Makary, Chadi; Halpin, Christopher; Crane, Benjamin T.; Merchant, Saumil N.
Mumps-associated hemophagocytic syndrome (HPS) is exceptionally rare. Here, we report a fatal case of concurrent mumps and HPS. A previously healthy 21-year-old male patient was admitted to the Department of Infectious Diseases on October 18, 2011,with complaints of parotid gland pain for 30 days and persistent fever (38.3°C-40°C) for 15 days. Admission examinations showed severe pancytopenia, liver dysfunction, hyperferritinemia, fibrinopenia, elevated lactalase dehydrase, bilateral pulmonary inflammation and pleural effusion, abdominal lymphadenopathy, and splenomegaly. The patient was accordingly suspected to have mumps-associated HPS and received nutrition support and hormonal therapies as well as platelet transfusions. On hospitalization day 3, the fever stayed high, and painful swelling in the right testicle was reported. A bone marrow biopsy evaluation and serological tests were then performed. Histiocytic hyperplasia and hemophagocytic macrophage infiltration were demonstrated in the bone marrow and antimumps virus immunoglobulin M was detected positive, but bacteria, Epstein-Barr virus, cytomegalovirus, and herpes simplex virus were detected negative in the peripheral blood. The initial diagnosis of mumps-associated HPS was eventually confirmed. Treatments with high doses of methylprednisolone, intravenous immunoglobulin, and etoposide were continued. By hospitalization day 20, patient's condition was improved, his body temperature and blood counts were almost normal, and the pain and swelling in his parotid glands and right testicle subsided considerably. On hospitalization day 28, however, patient's condition deteriorated rapidly, and pancytopenia became evident again. On hospitalization day 33, the patient died of multiple organ dysfunction. PMID:23478118
Xing, Quqntai; Xing, Peixiang
Solid tumors following myelodysplastic syndrome (MDS) are rare and have no uniform treatment guidelines. The current study presents a rare case of a 47-year-old female diagnosed with cervical cancer (International Federation of Gynecology and Obstetrics stage IIIB) with an eight-year history of MDS. A multidisciplinary treatment discussion was organized and a rigorous treatment plan was developed. With injection of granulocyte colony-stimulating factor and interleukin-11 factor, transfusion of red blood cell suspension and close monitoring of the blood count, the patient was administered radiotherapy, specifically intensity modulated radiation therapy. However, a degree IV bone marrow suppression repeatedly assaulted, leading to interruption of the radiotherapy treatment. Eventually, the total dose received by point A (2 cm above the cervical os marker and 2 cm perpendicular to the uterine axis along the plane of the uterus) was 51 Gy. One month later, a gynecological examination and magnetic resonance imaging of the pelvis revealed that the treatment resulted in a complete remission. In conclusion, radiation therapy can still be implemented to obtain satisfactory local control when the hematopoietic function of the bone marrow is weakened due to long-term MDS.
MENG, DU; CHAI, YAN-LAN; HE, YIN-FANG; HU, HONGLIAN; LIU, RUI; LIU, ZI
An 18 year old male with a history of prune belly syndrome (PBS) presented with acute abdominal pain and palpable left upper quadrant mass. Computed tomography (CT) of the abdomen revealed a medialized spleen with a "whirl sign" in the splenic vessels, consistent with splenic torsion. Coincidentally, the small bowel was also noted to be on the right side of the abdomen, while the colon was located on the left, indicative of malrotation. Emergent diagnostic laparoscopy confirmed splenic torsion and intestinal malrotation. Successful laparoscopic reduction of the splenic torsion was achieved, however, conversion to an open procedure by a vertical midline incision was necessary owing to the patient's unique anatomy. Open splenopexy with a mesh sling and Ladd's procedure were subsequently performed. Malrotation and wandering spleen are known, rare associated anomalies in PBS; however, both have not been reported concurrently in a patient with PBS in the literature. In patients with PBS, acute abdominal pain, and an abdominal mass, high clinical suspicion for gastrointestinal malformations and prompt attention can result in spleen preservation and appropriate malrotation management. We present a case of a teenager who presented with a history of PBS, acute abdominal pain, and a palpable abdominal mass. The patient was found to have splenic torsion and intestinal malrotation. The clinical findings, diagnostic imaging, and surgical treatment options of splenic torsion are reviewed. PMID:23414901
Tran, Sifrance; Grossman, Eric; Barsness, Katherine A
Touraine-Solenti-Golé syndrome, characterized by familial acromegaly without the implication of growth hormone in the genesis, and by pachydermia, is reported in a woman aged 62 years with the classic manifestations of acromegalic diabetes, but with no thyroid or lung diseases. The syndrome is discussed, and is followed by a clinical description of our patient. PMID:746461
Gray, P I; Steyn, A F
A woman with Hodgkin disease presented a neoplastic syndrome of unusual magnitude affecting both the CNS and PNS. The severity of the clinical pattern contrasted strongly with the paucity of neuropathological findings. The report is followed by a brief discussion of the etiological and clinical problems of paraneoplastic syndromes affecting the nervous system.
F. Maggioni; F. Zanchin; F. Vecchio; R. Giordano; L. De Zanche
Odontogenic keratocysts (OKCs) are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBS). It is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of only multiple recurring OKC. Our patient presented with nine cysts with multiple recurrences over a period of 11 years without any other manifestation of the syndrome.
Bartake, AR.; Shreekanth, NG.; Prabhu, S.; Gopalkrishnan, K.
Introduction: The metabolic syndrome has known as an independent risk factor of stroke. The occurrence of this syndrome is due to genetic factors and lifestyle. This study was performed on the frequency of metabolic syndrome