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Sample records for syndrome ressonancia magnetica

  1. Syndromic Scoliosis

    MedlinePLUS

    ... Neurofibromatosis (NF) Noonan Syndrome VATER/VACTERL Syndrome Angelman Syndrome Rett Prader Willi Osteogenesis Imperfecta Trisomy 21 (Down's Syndrome) Symptoms Highly variable based on underlying syndrome and ...

  2. Metabolic Syndrome

    MedlinePLUS

    ... How Can I Help a Friend Who Cuts? Metabolic Syndrome KidsHealth > For Teens > Metabolic Syndrome Print A A ... applies to a condition known as metabolic syndrome. Metabolic Syndrome Is an Early Warning Sign Metabolic syndrome isn' ...

  3. Metabolic Syndrome

    MedlinePLUS

    ... Th M e etabolic Syndrome What is the metabolic syndrome? The term metabolic syndrome describes a cluster of risk factors that increase ... high blood sugar). The exact cause of the metabolic syndrome is not known but genetic factors, too much ...

  4. Antiphospholipid Syndrome

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Antiphospholipid Syndrome Information Page Synonym(s): Hughes Syndrome Table of Contents ( ... research is being done? Clinical Trials What is Antiphospholipid Syndrome? Antiphospholipid syndrome (APS) is an autoimmune disorder caused ...

  5. Cushing's Syndrome

    MedlinePLUS

    MENU Return to Web version Cushing's Syndrome Overview What is Cushing's syndrome? Cushing's syndrome occurs when your body is exposed to high levels ... they can cause problems with your eyesight. Diagnosis & Tests How is Cushing's syndrome diagnosed? Your doctor may ...

  6. Down Syndrome

    MedlinePLUS

    ... Sledding, Skiing, Snowboarding, Skating Crushes What's a Booger? Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  7. Dravet Syndrome

    MedlinePLUS

    ... NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  8. Metabolic syndrome

    MedlinePLUS

    Metabolic syndrome is a name for a group of risk factors that occur together and increase the chance ... Metabolic syndrome is becoming very common in the United States. Doctors are not sure whether the syndrome is ...

  9. Down Syndrome

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Down Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Down syndrome? Down syndrome describes a set of cognitive and ...

  10. Piriformis Syndrome

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Piriformis Syndrome Information Page Table of Contents (click to jump ... is being done? Clinical Trials Organizations What is Piriformis Syndrome? Piriformis syndrome is a rare neuromuscular disorder that ...

  11. [Proteus syndrome].

    PubMed

    Benichou, J J; Labrune, B; Formanek, A; Denoix, C; Oger, P

    1990-01-01

    Two new cases of Proteus syndrome are reported. This congenital syndrome, first described in 1983, comprises gigantism of extremities, body hemihypertrophy, pigmented nevi and multiple tumors (subcutaneous, lipomas, hamartomas). This syndrome belongs to the same group as Recklinghausen disease, Maffucci or Klippel-Trenaunay syndromes. The prognosis is not well known but mostly depends on functional and psychologic consequences of important deformations. PMID:2206106

  12. Paraneoplastic Syndromes

    MedlinePLUS

    ... NINDS Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Paraneoplastic Syndromes ... done? Research on paraneoplastic syndromes is aimed at enhancing scientific understanding and evaluating new therapeutic interventions. Researchers ...

  13. Angelman Syndrome

    MedlinePLUS

    ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ... develop techniques to diagnose, treat, prevent, and ultimately cure them. NIH Patient Recruitment for Angelman Syndrome Clinical ...

  14. Marfan Syndrome

    MedlinePLUS

    ... Like for Kids With Marfan Syndrome? en español Síndrome de Marfan Evan couldn't wait for school ... for Marfan syndrome runs in families, getting passed down to children from parents who have the disease. ...

  15. Brown Syndrome

    MedlinePLUS

    ... poor binocular vision (which can result in poor depth perception) and/or amblyopia. Are there different kinds of Brown syndrome? Brown syndrome can be classified according to severity. In mild cases there is a reduced ability to look up ...

  16. LEOPARD syndrome

    MedlinePLUS

    LEOPARD syndrome is a very rare inherited disorder in which there are problems with the skin, face, ... LEOPARD syndrome is inherited as an autosomal dominant trait. This means the person only needs the abnormal ...

  17. Asperger syndrome

    MedlinePLUS

    Asperger syndrome is often considered a high functioning form of autism. It can lead to difficulty interacting socially, repeat behaviors, and clumsiness. Asperger syndrome is a part of the larger developmental ...

  18. Pseudoaminopterin syndrome.

    PubMed

    Kraoua, Lilia; Capri, Yline; Perrin, Laurence; Benmansour, Abdelmajjid; Verloes, Alain

    2012-09-01

    Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and growth retardation. The syndrome owes its name to the fact that patients resemble the children exposed to aminopterin or to methotrexate, two dihydrofolate reductase inhibitors used for chemotherapy, or as an abortificient in early pregnancy. Ten patients have been described with pseudoaminopterin syndrome. Their phenotype is variable, and differs from the phenotype resulting from folic acid deprivation, leading to the notion that the pathogenesis may be more complex than simple vitamin deficiency. We report on an Algerian patient with pseudoaminopterin syndrome, review the previously reported cases and confirm that pseudoaminopterin syndrome does not result from a detectable contiguous gene imbalance as high resolution CGH array was normal in this child. PMID:22811276

  19. Fahr's Syndrome

    MedlinePLUS

    ... is Fahr's Syndrome? Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits ... the NINDS or the NIH is appreciated. Last Modified February 13, 2007 National Institute of Neurological Disorders ...

  20. Pendred Syndrome

    MedlinePLUS

    ... Pendred syndrome will show vestibular weakness when their balance is tested. However, the brain is very good at making up for a weak vestibular system, and most children and adults with Pendred syndrome don't have a problem ...

  1. Rett Syndrome

    MedlinePLUS

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  2. Rett Syndrome

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Rett Syndrome: Overview Skip sharing on social media links Share this: Page Content Rett syndrome is a neurological and developmental genetic disorder that ...

  3. Craniofacial Syndrome Descriptions

    MedlinePLUS

    ... Goldenhar/Hemifacial Moebius syndrome Pfeiffer syndrome Pierre Robin Sequence Treacher Collins syndrome Other syndromes Wonder News & Events ... of the radial limb. Pfeiffer syndrome Pierre Robin Sequence Saethre-Chotzen Saethre-Chotzen syndrome is a condition ...

  4. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  5. Piriformis Syndrome

    MedlinePLUS

    ... the symptoms of piriformis syndrome? The most common symptom of piriformis syndrome is sciatica. This term describes pain, tingling or numbness that ... such as a car accident or a fall. ... something other than piriformis syndrome is causing your sciatica, he or she may order additional tests. Computerized ...

  6. Turcot Syndrome

    MedlinePLUS

    ... of colorectal cancer , and an increased risk of brain cancer . The type of brain cancer generally depends on whether the Turcot syndrome ... Lynch syndrome or FAP. The two most common types of brain tumors in Turcot syndrome are: Glioblastoma . This type ...

  7. Rowell syndrome

    PubMed Central

    Bhat, Ramesh Y; Varma, Chaitanya; Bhatt, Sonia; Balachandran, C

    2014-01-01

    Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine. PMID:25506561

  8. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  9. Aase syndrome

    MedlinePLUS

    Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome ... Jones KL, ed. Aase syndrome. In: Smith's Recognizable Patterns Of Human Malformation. 6th ed. Saunders. 2005. Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2013 Jul ...

  10. Gorlin syndrome.

    PubMed

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis. PMID:23723494

  11. Irritable Bowel Syndrome

    MedlinePLUS

    ... How Can I Help a Friend Who Cuts? Irritable Bowel Syndrome KidsHealth > For Teens > Irritable Bowel Syndrome Print ... intestinal disorder called irritable bowel syndrome. What Is Irritable Bowel Syndrome? Irritable bowel syndrome (IBS) is a common ...

  12. Prostatitis Syndromes

    PubMed Central

    Nickel, J. Curtis

    1991-01-01

    The many prostatitis syndromes remain a frustrating enigma to family physicians as well as specialists. An understanding of the etiology and pathophysiology of these syndromes and a rigorous diagnostic plan to properly classify the patients at first presentation are essential to a successful treatment outcome. ImagesFigure 1 PMID:21229071

  13. HELLP Syndrome

    MedlinePLUS

    ... get HELLP syndrome if you're white and older than 25 years of age. You are also more likely to get it if you have had children before or if you had a problem with a pregnancy in the past. Treatment How is HELLP syndrome ...

  14. Marfan Syndrome

    MedlinePLUS

    ... Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects ... A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a ...

  15. Marfan Syndrome

    MedlinePLUS

    ... even exercise — they just have to be a little more careful. Kids should always check with their doctors about what's ... activities during gym class. But other than that, kids with Marfan syndrome are just like everyone else — only a little taller. If you have Marfan syndrome, you probably ...

  16. Bloom's Syndrome

    MedlinePLUS

    ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III Walker- ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III Walker- ...

  17. Kounis syndrome.

    PubMed

    Ntuli, P M; Makambwa, E

    2015-10-01

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants. PMID:26636160

  18. [HELLP syndrome].

    PubMed

    Vigil-De Gracia, Paulino

    2015-01-01

    Hypertensive disorders of pregnancy are one of the most common complications of pregnancy, but one of the most serious expressions of this pathology is HELLP syndrome. The HELLP syndrome is characterized by the presence of hypertension disorder more a triad: microangiopathic hemolysis, elevated liver enzymes and low platelet count. Patient with HELLP syndrome is associated with increased maternal risk complications such as: cerebral hemorrhage, retinal detachment, hematoma/ hepatic rupture, acute renal failure, disseminated intravascular coagulation, placental abruption and therefore a maternal death. For all these reasons it is recommended to search for findings of HELLP syndrome in patients with hypertensive disorder of pregnancy. The main clinical confusion of HELLP syndrome is acute fatty liver of pregnancy, however there are parameters that help correct identification. The presence of HELLP syndrome involves a rapid termination of pregnancy and the administration of corticosteroids does not improve maternal morbidity and mortality but may help raise the platelet count, thus decreasing the need for transfusion and shorten hospital stay. Much of the decline in maternal morbidity and mortality associated with hypertensive disorders of pregnancy is in proper diagnosis and effective management of HELLP syndrome. PMID:26016316

  19. Neuroacanthocytosis Syndromes

    PubMed Central

    2011-01-01

    Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses include Huntington disease and other causes of progressive hyperkinetic movement disorders. There are no curative therapies for NA syndromes. Regular cardiologic studies and avoidance of transfusion complications are mandatory in McLeod syndrome. The hyperkinetic movement disorder may be treated as in Huntington disease. Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades. PMID:22027213

  20. LEOPARD Syndrome.

    PubMed

    Ghosh, Sudip Kumar; Majumdar, Biswajit; Rudra, Olympia; Chakraborty, Sougat

    2015-01-01

    LEOPARD syndrome (LS) is an autosomal dominantly inherited or sporadic disorder of variable penetrance and expressivity. The acronym LEOPARD stands for its cardinal clinical features including Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness. We present herein a patient with LEOPARD syndrome and distinctive features. It was noteworthy that our patient presented with the concern of generalized lentiginosis and subsequent evaluation revealed that the patient had LEOPARD syndrome. In this report we would like to highlight the importance of detailed clinical examination and appropriate imaging in patients with multiple lentigines. PMID:26632807

  1. Syndrome designations.

    PubMed Central

    Cohen, M M

    1976-01-01

    Because syndrome designations permit the collection of data, they are much more than just lables. As new syndromes become delineated, their names connote (1) their phenotypic spectra, (2) their natural histories, and (3) their modes of inheritance or risk of recurrence. Various methods for designating new syndromes are reviewed, including naming them after (1) the basic defect, (2) an eponym, (3) one or more striking features, (4) an acronym, (5) a numeral, (6) a geographic term, and (7) some combination of the above. None of these systems of nomenclature is without fault. The advantages and disadvantages of each are discussed. PMID:957375

  2. Velocardiofacial syndrome.

    PubMed Central

    Pike, A. C.; Super, M.

    1997-01-01

    Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:9497944

  3. Caplan syndrome

    MedlinePLUS

    ... people with rheumatoid arthritis who have breathed in mining dust that contains coal. This lung disease is ... Caplan syndrome is caused by breathing in coal mining dust. This causes inflammation and can lead to ...

  4. Joubert Syndrome

    MedlinePLUS

    ... NINDS Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Joubert Syndrome ... Funding | News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | ...

  5. Aicardi Syndrome

    MedlinePLUS

    ... NINDS Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Aicardi Syndrome ... Funding | News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | ...

  6. Behcet's Syndrome

    MedlinePLUS

    Behcet's syndrome is a disease that involves vasculitis, which is inflammation of the blood vessels. It causes problems in many parts of the body. The ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

  7. Turner syndrome

    MedlinePLUS

    ... birth if a chromosome analysis is done during prenatal testing. The doctor will perform a physical exam and look for signs of poor development. Infants with Turner syndrome often have swollen hands ...

  8. Tourette Syndrome

    MedlinePLUS

    ... won't make them less intelligent or need treatment at a hospital or doctor's office. Sometimes a person with Tourette syndrome might have other conditions, like attention deficit hyperactivity ...

  9. Aicardi syndrome

    MedlinePLUS

    ... the two sides of the brain (called the corpus callosum) is partly or completely missing. Nearly all known ... Aicardi syndrome if they meet the following criteria: Corpus callosum that is partly or completely missing Female sex ...

  10. Usher Syndrome

    MedlinePLUS

    ... expand treatment options. Scientists also are developing mouse models that have the same characteristics as the human types of Usher syndrome. Mouse models will make it easier to determine the function ...

  11. Down Syndrome

    MedlinePLUS

    ... chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person ... can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and ...

  12. HELLP syndrome

    MedlinePLUS

    ... early. It is very important to have regular prenatal checkups. You should also let your health care ... prevent HELLP syndrome. All pregnant women should start prenatal care early and continue it through the pregnancy. ...

  13. Proteus Syndrome

    MedlinePLUS

    ... Criteria & FAQs Medical Research Glossary Donate Cash Donation Life Insurance Gift Matching Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Definition Common Signs Diagnostic Criteria (I have a paragraph ...

  14. Menkes syndrome

    MedlinePLUS

    ... Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It ... makes it hard for the body to distribute copper in food from the intestines into the bloodstream ...

  15. Down Syndrome

    MedlinePLUS

    ... or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow ... a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow ...

  16. Cushing's Syndrome

    MedlinePLUS

    ... not have abnormally elevated cortisol levels. For example, polycystic ovary syndrome can cause menstrual disturbances, weight gain beginning in ... alcohol, have poorly controlled diabetes, or are severely obese. Pseudo-Cushing’s does not have the same long- ...

  17. Williams syndrome

    MedlinePLUS

    ... condition caused by missing a copy of several genes. Parents may not have any family history of the condition. However, a person with Williams syndrome has a 50% ... 25 missing genes is the gene that produces elastin, a protein ...

  18. Alport syndrome

    MedlinePLUS

    ... Learning new skills such as lip reading or sign language and getting hearing aids may help. Young men with Alport syndrome should use hearing protection in noisy environments. Genetic counseling may be recommended because the disorder is inherited.

  19. Bartter syndrome

    MedlinePLUS

    ... syndrome include: High levels of potassium , calcium, and chloride in the urine High levels of the hormones renin and aldosterone in the blood Low blood chloride Metabolic alkalosis These same signs and symptoms can ...

  20. Sanfilippo syndrome

    MedlinePLUS

    ... recessive trait. Sanfilippo syndrome occurs when the substances (enzymes) needed to break down the heparan sulfate sugar ... The type a person has depends on which enzyme is affected. Sanfilippo type A is the most ...

  1. Beals Syndrome

    MedlinePLUS

    ... have many of the skeletal (bone) and aortic enlargement problems as people with Marfan syndrome, and treatments ... appearance to the top of the ear Aortic enlargement and/or mitral valve regurgitation (occasionally) People with ...

  2. Ohtahara Syndrome

    MedlinePLUS

    ... have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is ... a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known ...

  3. Klinefelter syndrome

    MedlinePLUS

    These groups can provide more information: The American Association for Klinefelter Syndrome Information and Support (AAKSIS) -- www.aaksis.org National Institute of Health, National Human Genome Research Institute -- www.genome.gov/19519068

  4. Piriformis syndrome

    MedlinePLUS

    ... sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... or numbness in the buttock and along the back of the leg Difficulty sitting Pain from sitting that grows worse as you continue ...

  5. Reye syndrome

    MedlinePLUS

    ... Reye syndrome: Confusion Lethargy Loss of consciousness or coma Mental changes Nausea and vomiting Seizures Unusual placement ... breathing machine may be needed during a deep coma) Fluids by IV to provide electrolytes and glucose ...

  6. [Heptopulmonary syndrome].

    PubMed

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. PMID:25840463

  7. Sheehan syndrome

    MedlinePLUS

    ... occur in a woman who bleeds severely during childbirth. Sheehan syndrome is a type of hypopituitarism . ... Severe bleeding during childbirth can cause tissue in the pituitary gland to die. This gland does not work properly as a result. The ...

  8. Isaac's Syndrome

    MedlinePLUS

    ... often is caused by an autoimmune condition. Autoimmune-mediated Issacs' syndrome is typically caused by antibodies that ... Español síndrome de Isaac Prepared by: Office of Communications and Public Liaison National Institute of Neurological Disorders ...

  9. Klinefelter Syndrome

    MedlinePLUS

    ... Families Recursos en Español Teaching Resources Medical and Science Glossaries More Quick Links Evaluating Health Information Financial ... Links About the National Center for Advancing Translational Sciences (NCATS) GARD Home Diseases Klinefelter syndrome Diseases Genetic ...

  10. Usher Syndrome

    MedlinePLUS

    ... Families Recursos en Español Teaching Resources Medical and Science Glossaries More Quick Links Evaluating Health Information Financial ... Links About the National Center for Advancing Translational Sciences (NCATS) GARD Home Diseases Usher syndrome Diseases Genetic ...

  11. Branchiootorenal Syndrome

    MedlinePLUS

    ... Families Recursos en Español Teaching Resources Medical and Science Glossaries More Quick Links Evaluating Health Information Financial ... Links About the National Center for Advancing Translational Sciences (NCATS) GARD Home Diseases Branchiootorenal syndrome Diseases Genetic ...

  12. Troyer Syndrome

    MedlinePLUS

    ... Troyer syndrome is one of more than 40 genetically-distinct neurological disorders known collectively as the hereditary ... the NINDS or the NIH is appreciated. Last Modified January 3, 2012 National Institute of Neurological Disorders ...

  13. Metabolic Syndrome

    MedlinePLUS

    ... cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help ... into energy for your body. If you are insulin resistant, too much sugar builds up in your ...

  14. Tourette Syndrome

    MedlinePLUS

    ... shouts unexpectedly or blinks his eyes hard. These tics are symptoms of Luke's Tourette syndrome. But to ... looks like he's in pain or needs help. Tics are sudden, repetitive movements or sounds that some ...

  15. Down syndrome

    MedlinePLUS

    There is no specific treatment for Down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Certain heart defects may also require surgery. When breast-feeding, ...

  16. Cushing Syndrome

    MedlinePLUS

    ... The syndrome is named after a brain surgeon, Harvey Cushing, who identified the condition in 1932. 2 ... Shlomo, M., Polonsky, K.S, Larsen, P.R., eds. Williams. Textbook of Endocrinology. 12th ed. Philadelphia, Pa: Saunders ...

  17. Reye Syndrome

    MedlinePLUS

    ... are recovering from a viral infection, such as chicken pox or the flu. It usually develops a week ... after common viral infections such as influenza or chickenpox. Reye syndrome can also develop after an ordinary ...

  18. Metabolic Syndrome

    MedlinePLUS

    ... Web version Metabolic Syndrome Overview What is insulin resistance? Your body changes most of the food you ... insulin. Doctors refer to this condition as insulin resistance. If you have insulin resistance, your body will ...

  19. Hunter syndrome

    MedlinePLUS

    Hunter syndrome is a disease in which long chains of sugar molecules (glycosaminoglycans, formerly called mucopolysaccharides ) are ... of the enzyme iduronate sulfatase. Without this enzyme, chains of sugar molecules build up in various body ...

  20. Marfan Syndrome

    MedlinePLUS

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the ...

  1. Rett Syndrome

    MedlinePLUS

    ... features include reduced mobility, curvature of the spine (scoliosis) and muscle weakness, rigidity, spasticity, and increased muscle ... does not have Rett syndrome. Supportive criteria include scoliosis. teeth-grinding, small cold hands and feet in ...

  2. Aarskog syndrome

    MedlinePLUS

    ... the face. Inherited means that it is passed down through families. ... Seek genetic counseling if you have a family history of Aarskog syndrome. Contact a genetic specialist if your doctor thinks ...

  3. Noonan syndrome

    PubMed Central

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2014-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments. PMID:23312968

  4. Learning about WAGR Syndrome

    MedlinePLUS

    ... children who have WAGR syndrome may have normal intelligence. Other symptoms of WAGR syndrome may also include: ... mild. Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for ...

  5. Complex Regional Pain Syndrome

    MedlinePLUS

    ... Diversity Find People About NINDS NINDS Complex Regional Pain Syndrome Information Page Synonym(s): Reflex Sympathetic Dystrophy Syndrome, ... Additional resources from MedlinePlus What is Complex Regional Pain Syndrome? Complex regional pain syndrome (CRPS) is a ...

  6. Miller Fisher Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Miller Fisher Syndrome Information Page Synonym(s): Fisher Syndrome Table of Contents ( ... and Information Publicaciones en Español What is Miller Fisher Syndrome? Miller Fisher syndrome is a rare, acquired nerve ...

  7. Androgen insensitivity syndrome

    MedlinePLUS

    ... at the tip Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... F, Leveno KJ, Bloom SL, et al., eds. Williams Obstetrics . 23rd ed. New York, NY: McGraw-Hill, ...

  8. Down Syndrome (For Parents)

    MedlinePLUS

    ... Allergy Emergency Cerebral Palsy: Caring for Your Child Down Syndrome KidsHealth > For Parents > Down Syndrome Print A A ... Help en español El síndrome de Down About Down Syndrome Down syndrome (DS), also called Trisomy 21, is ...

  9. Hyperimmunoglobulin E syndrome

    MedlinePLUS

    Job syndrome; Hyper IgE syndrome ... Hyperimmunoglobulin E syndrome is also called Job syndrome, after the biblical character Job whose faithfulness was tested by an affliction with draining skin sores and pustules . People with this ...

  10. Irritable Bowel Syndrome

    MedlinePLUS

    ... Sledding, Skiing, Snowboarding, Skating Crushes What's a Booger? Irritable Bowel Syndrome KidsHealth > For Kids > Irritable Bowel Syndrome Print ... to minimize or prevent these symptoms. What Is Irritable Bowel Syndrome? Irritable bowel syndrome (IBS) is a fairly ...

  11. Proteus Syndrome Foundation

    MedlinePLUS

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Foundation The Proteus Syndrome Foundation , a 501c3 ... Phase 1 Clinical Trail Patient Enrollment Has Begun Proteus Syndrome Patient Registry The Proteus Syndrome Foundation Contact ...

  12. What Is Usher Syndrome?

    MedlinePLUS

    ... You are here Home › Retinal Diseases Listen What is Usher Syndrome? What is Usher syndrome? How is ... are available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition ...

  13. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Carpal Tunnel Syndrome Information Page Condensed from Carpal Tunnel Syndrome ... Español Additional resources from MedlinePlus What is Carpal Tunnel Syndrome? Carpal tunnel syndrome (CTS) occurs when the ...

  14. Alport Syndrome Diagnosis

    MedlinePLUS

    ... Meet Jessi Patient to Patient - John Connect on Twitter Tweets by @AlportSyndFndn Alport Syndrome Diagnosis Early and ... Alport Syndrome YouTube Alport Syndrome LinkedIn Alport Syndrome Twitter Alport Syndrome Flickr Alport Syndrome Instagram Follow @twitterapi ...

  15. Nephrotic syndrome.

    PubMed

    Andolino, Tecile Prince; Reid-Adam, Jessica

    2015-03-01

    On the basis of observational studies, the most common cause of nephrotic syndrome in school-aged children is minimal change disease. On the basis of research evidence and consensus, corticosteroids are considered first-line therapy for treatment of nephrotic syndrome. On the basis of consensus, prednisone therapy should be initiated at doses of 60 mg/m2 per day (2 mg/kg per day) administered for 4 to 6 weeks, followed by 40 mg/m2 per dose (1.5 mg/kg) every other day for at least 6 to 8 weeks. On the basis of consensus and expert opinion, it is important to recognize and manage the complications that can arise in patients with nephrotic syndrome, such as dyslipidemia, infection, and thrombosis. On the basis of research evidence, consensus, and expert opinion, several alternative therapies have been observed to have variable efficacy in children with both corticosteroid-dependent and corticosteroid-resistant nephrotic syndrome, although caution must be exercised in the administration of these corticosteroid-sparing medications secondary to toxic adverse effects. On the basis of observational studies, the course of nephrotic syndrome in most patients is that of relapse and remission. PMID:25733763

  16. Preexcitation Syndromes.

    PubMed

    Bhatia, Atul; Sra, Jasbir; Akhtar, Masood

    2016-03-01

    The classic electrocardiogram in Wolff-Parkinson-White (WPW) syndrome is characterized by a short PR interval and prolonged QRS duration in the presence of sinus rhythm with initial slurring. The clinical syndrome associated with above electrocardiogram finding and the history of paroxysmal supraventricular tachycardia is referred to as Wolff-Parkinson-White syndrome. Various eponyms describing accessory or anomalous conduction pathways in addition to the normal pathway are collectively referred to as preexcitation syndromes. The latter form and associated eponyms are frequently used in literature despite controversy and disagreements over their actual anatomical existence and electrophysiological significance. This communication highlights inherent deficiencies in the knowledge that has existed since the use of such eponyms began. With the advent of curative ablation, initially surgical, and then catheter based, the knowledge gaps have been mostly filled with better delineation of the anatomic and electrophysiological properties of anomalous atrioventricular pathways. It seems reasonable, therefore, to revisit the clinical and electrophysiologic role of preexcitation syndromes in current practice. PMID:26897561

  17. [Kallmann syndrome].

    PubMed

    Mokosch, A; Bernecker, C; Willenberg, H S; Neumann, N J

    2011-10-01

    The Kallmann syndrome is a very rare congenital association of gonadotropin-releasing hormone deficiency and hyposmia or anosmia. Clinically it is characterized by low serum concentrations of testosterone and inadequate low levels of luteinizing hormone and follicle-stimulating hormone as well as incomplete sexual maturation, lack of secondary sexual features (facial and body hair growth, deepening of the voice), micropenis and sometimes even cryptorchidism. The reduced or absent sense of smell is typical for the Kallmann syndrome and distinguishes this syndrome from other causes of hypogonadotropic hypogonadism. Additional findings may include synkinesia, hearing loss, unilateral renal aplasia, brachy- or syndactyly, agenesis of corpus callosum, cleft palate and dental agenesis. A 19-year-old man presented to our male infertility clinic with delayed sexual maturation, eunuchoid habitus, micropenis, cryptorchidism, erectile dysfunction and absence of ejaculation, anemia and osteoporosis as well as low serum concentrations of luteinizing hormone, follicle-stimulating hormone and testosterone in combination with hyposmia. PMID:21918848

  18. Compartment syndromes

    NASA Technical Reports Server (NTRS)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  19. Flammer syndrome

    PubMed Central

    2014-01-01

    The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

  20. Flammer syndrome.

    PubMed

    Konieczka, Katarzyna; Ritch, Robert; Traverso, Carlo Enrico; Kim, Dong Myung; Kook, Michael Scott; Gallino, Augusto; Golubnitschaja, Olga; Erb, Carl; Reitsamer, Herbert A; Kida, Teruyo; Kurysheva, Natalia; Yao, Ke

    2014-01-01

    The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

  1. Pseudoexfoliation Syndrome

    PubMed Central

    Nivean, M; Utkarsha, P

    2013-01-01

    ABSTRACT Pseudoexfoliation (PXF) syndrome is a well-recognized clinical entity of considerable clinical significance. It is associated with poor mydriasis, cataracts with weak zonular support, secondary glaucoma and possibly with biochemical abnormalities, such as elevated homocysteine and systemic diseases involving the cardiovascular and central nervous system. There have also been some recent studies identifying mutations in genes which are associated with PXF. How to cite this article: Ariga M, Nivean M, Utkarsha P. Pseudoexfoliation Syndrome. J Current Glau Prac 2013;7(3): 118-120.

  2. Eagle syndrome.

    PubMed

    Ferreira, Pedro Costa; Mendanha, Mário; Frada, Tiago; Carvalho, Jorge; Silva, Alvaro; Amarante, José

    2014-01-01

    Eagle syndrome, also known as elongated styloid process, is a condition first described by Watt Eagle in 1937. It occurs when an elongated styloid process or calcified stylohyoid ligament causes recurrent throat pain or foreign body sensation, dysphagia, or facial pain. Additional symptoms may include neck or throat pain with radiation to the ipsilateral ear. It is usually hard to diagnose because the symptoms related to this condition can be confused with those attributed to a wide variety of facial neuralgias. In this article, a case of Eagle syndrome exhibiting unilateral symptoms with bilateral elongation of styloid process is reported. PMID:24406612

  3. Metabolic Syndrome

    MedlinePLUS

    ... Metabolic Syndrome? Changing Your Course en español El síndrome metabólico Choices. Life is full of them. And many choices affect our health: Will you choose pizza at that post-game dinner or salad with grilled chicken? Do you flop down in front of the TV after school or ...

  4. [SAPHO syndrome].

    PubMed

    Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

    2014-10-01

    The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary. PMID:25260820

  5. Reye's Syndrome

    MedlinePLUS

    ... U.S. Department of Health and Human Services 5600 Fishers Lane, CDER-HFD-240 Rockville, MD 20857 http://www.fda.gov Tel: 301-827-4573 888-INFO-FDA (463-6332) National Reye's Syndrome Foundation P.O. Box 829 426 North Lewis ...

  6. Alport Syndrome

    MedlinePLUS

    ... older the risk of kidney failure increases. All boys and girls with the autosomal recessive type of Alport Syndrome ... with this disease have the X-linked type. Boys with this type are severely ... in their lives. Girls with this type usually have milder symptoms than ...

  7. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  8. Compartment syndrome

    MedlinePLUS

    ... affected area (for example, a person with compartment syndrome in the foot or lower leg will have severe pain when moving the toes up and down) Swelling in the area To confirm the diagnosis, the doctor or nurse may need to directly ...

  9. Tourette Syndrome

    MedlinePLUS

    ... hyperactivity disorder (ADHD) Obsessive-compulsive disorder (OCD) Anxiety Depression The cause of Tourette syndrome is unknown. It is more common in boys than girls. The tics usually start in childhood and may be worst in the early teens. Many people eventually outgrow them. No treatment is ...

  10. Satoyoshi syndrome.

    PubMed

    Mukhopadhyay, Debadatta; Ghosh, Apurba; Mukhopadhyay, Maya

    2011-09-01

    Satoyoshi syndrome is a rare autoimmune disease characterized by alopecia, painful muscle spasms, diarrhea and secondary skeletal changes. We report a 11 year old girl presenting with the typical features of alopecia totalis, severe muscle spasm and skeletal deformities. PMID:21992906

  11. Metabolic Syndrome

    MedlinePLUS

    ... levels, and it’s closely linked to overweight and obesity. Genetics (ethnicity and family history) and older age are other factors that may play a role in causing metabolic ... due to a rise in obesity rates among adults. In the future, metabolic syndrome ...

  12. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  13. Postthrombotic Syndrome

    MedlinePLUS

    ... syndrome. Blood . 2009 ; 114 : 4624 –4631. Abstract / FREE Full Text ↵ Vazquez SR, Freeman A, VanWoerkom RC, Rondina MT. ... CIRCULATIONAHA.109.925651 Extract Free Figures Only Free » Full Text Free PDF Free PPT Slides of All Figures ...

  14. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  15. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  16. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  17. Cushing's syndrome.

    PubMed

    Lacroix, André; Feelders, Richard A; Stratakis, Constantine A; Nieman, Lynnette K

    2015-08-29

    Chronic exposure to excess glucorticoids results in diverse manifestations of Cushing's syndrome, including debilitating morbidities and increased mortality. Genetic and molecular mechanisms responsible for excess cortisol secretion by primary adrenal lesions and adrenocorticotropic hormone (ACTH) secretion from corticotroph or ectopic tumours have been identified. New biochemical and imaging diagnostic approaches and progress in surgical and radiotherapy techniques have improved the management of patients. The therapeutic goal is to normalise tissue exposure to cortisol to reverse increased morbidity and mortality. Optimum treatment consisting of selective and complete resection of the causative tumour is necessay to allow eventual normalisation of the hypothalamic-pituitary-adrenal axis, maintenance of pituitary function, and avoidance of tumour recurrence. The development of new drugs offers clinicians several choices to treat patients with residual cortisol excess. However, for patients affected by this challenging syndrome, the long-term effects and comorbidities associated with hypercortisolism need ongoing care. PMID:26004339

  18. Overtraining Syndrome

    PubMed Central

    Kreher, Jeffrey B.; Schwartz, Jennifer B.

    2012-01-01

    Context: Fatigue and underperformance are common in athletes. Understanding overtraining syndrome (OTS) is helpful in the evaluation, management, and education of athletes. Evidence Acquisition: Relevant articles in English were searched with OVID (1948-2011) and PubMed using the following keywords: overtraining syndrome, overtraining, overreaching, unexplained underperformance, staleness, pathophysiology, management, treatment, evaluation. Bibliographies were reviewed for additional resources. Results: OTS appears to be a maladapted response to excessive exercise without adequate rest, resulting in perturbations of multiple body systems (neurologic, endocrinologic, immunologic) coupled with mood changes. Many hypotheses of OTS pathogenesis are reviewed, and a clinical approach to athletes with possible OTS (including history, testing, and prevention) is presented. Conclusions: OTS remains a clinical diagnosis with arbitrary definitions per the European College of Sports Science’s position statement. History and, in most situations, limited serologies are helpful. However, much remains to be learned given that most past research has been on athletes with overreaching rather than OTS. PMID:23016079

  19. Kartagener syndrome.

    PubMed

    Skeik, Nedaa; Jabr, Fadi I

    2011-01-01

    Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure. PMID:21403791

  20. [Hepatorenal syndrome].

    PubMed

    Pillebout, Evangéline

    2014-02-01

    Hepatorenal syndrome is a severe complication of end-stage liver disease. The pathophysiological hallmark is severe renal vasoconstriction, resulting from peripheral and splanchnic vasodilation as well as activation of renal vasoconstrictor molecules, which induce the effective arterial volume reduction and the functional renal failure. The diagnosis of hepatorenal syndrome is currently based on the exclusion of other causes of renal failure (especially prerenal). Spontaneous bacterial peritonitis is one of the triggering factors and should be sought in all patients with severe liver disease and acute renal failure. Quickly treating patients with parental antibiotics and albumin infusion significantly decreases the risk. The combined use of intravenous albumin, splanchnic and peripheral vasoconstrictor and/or renal replacement therapy sometimes enables a delay until liver transplantation (or combined liver-kidney in selected patients). Transplantation is in fact the only way to improve the long-term prognosis. PMID:24388293

  1. Metabolic syndrome.

    PubMed

    Denke, Margo A

    2002-11-01

    The metabolic syndrome is like an elephant, and any literary review of its importance is shamefully reduced to an examination of tusks, trunk, and tail. Evidence continues to mount that this diminutive approach is an incorrect management strategy for such a large problem. Diet and lifestyle are effective strategies, but they must effectively compete with behaviors that have instant gratification. Our society has turned its focus away from the long-term rewards of good sustainable behaviors and has instead focused on short-term rewards of unsustainable behaviors. To tame the behaviors that promote the metabolic syndrome, simple answers from diet and drug therapy will require support from society to be effective. PMID:12361491

  2. Bruck syndrome.

    PubMed

    Datta, Vikram; Sinha, Aditi; Saili, Arvind; Nangia, Sushma

    2005-05-01

    The combination of arthrogryposis multiplex congenita and osteogenesis imperfecta is extremely rare. This combination is named Bruck syndrome. A 34 week male baby weighing 1.7 kg at birth was noted to have multiple flexion contractures and pterygia at elbows, wrists and knees, in addition to right foot talipes equinovarus deformity. Postnatally the child developed multiple swellings involving both the upper and lower limbs. A plain radiograph revealed the presence of fractures involving the long bones of the upper and lower limbs. A diagnosis of osteogenesis imperfecta with arthrogryposis multiplex congenita was made, and the patient was labeled as a case of Bruck Syndrome. The aim of this report is to make the readers aware regarding this rare entity and to specifically look for presence of features suggestive of osteogenesis imperfecta when encountered with a neonate born with arthrogryposis multiplex congenita. PMID:15973030

  3. [Fibromyalgia syndrome].

    PubMed

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity. PMID:1576317

  4. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  5. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  6. Acrodysostosis syndromes.

    PubMed

    Silve, C; Le-Stunff, C; Motte, E; Gunes, Y; Linglart, A; Clauser, E

    2012-01-01

    Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsα, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR-Gsα-cAMP-PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway. PMID:24363928

  7. Acrodysostosis syndromes

    PubMed Central

    Silve, C; Le-Stunff, C; Motte, E; Gunes, Y; Linglart, A; Clauser, E

    2012-01-01

    Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsα, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR–Gsα–cAMP–PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway. PMID:24363928

  8. Sweet's syndrome.

    PubMed

    Limdiwala, Piyush G; Parikh, Shilpa J; Shah, Jigna S

    2014-01-01

    Acute febrile neutrophilic dermatosis or Sweet's syndrome (SS) is characterized by painful, erythematous plaques of rapid onset accompanied by fever. The etiology of SS is unknown and it may be associated with antecedent infections, malignancies, autoimmune diseases, drugs and vaccines, upper respiratory or gastrointestinal infection, pregnancy, inflammatory bowel disease as well as chemotherapy or idiopathic. The standard therapy for SS is systemic corticosteroids. We report a rare case of 19-year-old young male patient with complaint of severe ill-defined type of pain in both jaws associated with plaques and papules on extensor surfaces of upper and lower extremities with bodyache and myalgia. Histopathological examination suggested perivascular neutrophilic infiltration with scattered eosinophils. Sweet syndrome has rare oral manifestations secondary to hematological changes. It can also present as a paraneoplastic syndrome (malignancy-associated form of condition, which is most commonly related to acute myelogenous leukemia), which leads to poor prognosis and thus it requires careful examination, early diagnosis and long-term follow-up. PMID:25099003

  9. CUSHING'S SYNDROME

    PubMed Central

    Wilkinson, Allan B.

    1961-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature. The diagnosis hinges upon a high index of suspicion, and one or several of the major criteria may be lacking. Ultimate establishment of correct diagnosis should be based largely on the clinical features, although stimulation and suppression tests may help to confirm a clinical diagnosis. In well-established clinical cases, with borderline laboratory confirmation, exploration may be justified, especially if tests fail to identify a specific cause. In cases of adrenal cortical tumor, all pathological tissue should be removed if possible, with great care to support and stimulate the remaining atrophic adrenal gland during and following operation. In cases of bilateral adrenal cortical hyperplasia, the problem is one of how much to remove. At present most investigators advocate radical subtotal resection, leaving less than 10 per cent of one side. ImagesFigure 1.Figure 2.Figure 3.Figure 4.Figure 5.Figure 6. PMID:13785315

  10. Hepatorenal syndrome.

    PubMed

    Lata, Jan

    2012-09-28

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension. This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys, where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration, which ultimately results in uraemia. The syndrome occurs almost exclusively in patients with ascites. Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output. Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure, but refractory ascites, and its impact on prognosis is less negative. Liver transplantation is the most appropriate therapeutic method, nevertheless, only a few patients can receive it. The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response. Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term. Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS. PMID:23049205

  11. Brugada Syndrome

    PubMed Central

    ANTZELEVITCH, CHARLES

    2007-01-01

    First introduced as a new clinical entity in 1992, the Brugada syndrome is associated with a relatively high risk of sudden death in young adults, and occasionally in children and infants. Recent years have witnessed a striking proliferation of papers dealing with the clinical and basic aspects of the disease. Characterized by a coved-type ST-segment elevation in the right precordial leads of the electrocardiogram (ECG), the Brugada syndrome has a genetic basis that thus far has been linked only to mutations in SCN5A, the gene that encodes the ?-subunit of the sodium channel. The Brugada ECG is often concealed, but can be unmasked or modulated by a number of drugs and pathophysiological states including sodium channel blockers, a febrile state, vagotonic agents, tricyclic antidepressants, as well as cocaine and propranolol intoxication. Average age at the time of initial diagnosis or sudden death is 40 ± 22, with the youngest patient diagnosed at 2 days of age and the oldest at 84 years. This review provides an overview of the clinical, genetic, molecular, and cellular aspects of the Brugada syndrome, incorporating the results of two recent consensus conferences. Controversies with regard to risk stratification and newly proposed pharmacologic strategies are discussed. PMID:17038146

  12. [Crush syndrome].

    PubMed

    Scapellato, S; Maria, S; Castorina, G; Sciuto, G

    2007-08-01

    Crush injuries and crush syndrome are common after natural (e.g. earthquake, land-slide, tornadoes, tsunami) or man-made catastrophes (e.g. wars, terrorist attacks), in fact the history of this disease is well reported both in earthquake rescue reviews and in military literature. However, there are instances due to conventional causes, such as building collapses, road traffic accident, accident at work or altered level of consciousness after stroke or drug overdose. These situations of ''big or small'' catastrophes can occur at any time and anywhere, for this reason every clinician should be prepared to address issues of crush syndrome quickly and aggressively. The treatment has to manage and to predict clinical conditions before they present themselves. In particular, acute renal failure is one of the few life-threatening complications that can be reversed. This article reviews the various evidences and summarizes the treatment strategies available. Fundamental targets in crush syndrome management are early aggressive hydration, urine alkalinization and, when possible, forced diuresis. Since electrolyte imbalance may be fatal due to arrhythmias secondary to hyperkalemia (especially associated with hypocalcemia), it's necessary to correct these abnormalities using insulin-glucose solution and/or potassium binders, and if nevertheless serum potassium levels remain high this serious disease will necessitate dialysis, which is often a vital procedure. PMID:17641588

  13. Kearns-Sayre Syndrome

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    ... Awards Enhancing Diversity Find People About NINDS NINDS Kearns-Sayre Syndrome Information Page Table of Contents (click to ... is being done? Clinical Trials Organizations What is Kearns-Sayre Syndrome? Kearns-Sayre syndrome (KSS) is a rare ...

  14. Central Pain Syndrome

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    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  15. Marfan Syndrome (For Parents)

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    ... syndrome doesn't affect your child's intelligence, some modifications may be needed in class (such as letting ... Bones, Muscles, and Joints Heart and Circulatory System Genetic Counseling Growth Disorders Marfan Syndrome Marfan Syndrome Contact ...

  16. Marfan Syndrome (For Parents)

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    ... Activities When to Call the Doctor en español Síndrome de Marfan About Marfan Syndrome Marfan syndrome is ... for Marfan syndrome runs in families, getting passed down to kids from parents who have the disease. ...

  17. Facts about Down Syndrome

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    ... Down Syndrome Data and Statistics Growth Charts Encephalocele Gastroschisis Hypospadias Microcephaly Omphalocele Spina Bifida Upper and Lower ... Down Syndrome Eye Defects Fetal Alcohol Syndrome Disorders Gastroschisis Heart Defects Coarctation of the Aorta Hypoplastic left ...

  18. Tethered Spinal Cord Syndrome

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    ... Enhancing Diversity Find People About NINDS NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

  19. Sturge-Weber Syndrome

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  20. Reye syndrome - resources

    MedlinePLUS

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  1. Down Syndrome: Eye Problems

    MedlinePLUS

    ... life expectancy. Do children with Down syndrome have eye problems? Individuals with Down syndrome are at increased ... When should children with Down syndrome receive an eye exam? The American Academy of Pediatrics recommends that ...

  2. What Causes Down Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry​ . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  3. Metabolic syndrome.

    PubMed

    Mardarowicz, Grazyna; Lopaty?ski, Jerzy; Nicer, Teresa

    2003-01-01

    The authors present the history of selecting and understanding the essence of the metabolic syndrome (X syndrome, Reaven's syndrome) related to insulin resistance as well as its contemporary working definition allowing diagnosing affected individuals. They describe the cycle of their own study investigating the prevalence of metabolic syndrome elements in patients treated because of their thyrotoxicosis. It has been observed that 4 weeks after thyrostatic treatment is started, many of these patients are affected by the growth of their body mass and total cholesterol level (mostly at the cost of LDL-cholesterol). After 2 years the growth of body mass is significant, many patients develop arterial hypertension. After 15 years of obesity, diabetes type 2 (DM-2), arterial hypertension, dyslipidemia, hyperinsulinaemia and full metabolic syndrome are found much more frequently than in the control group. In the research carried in the 1987--1989 period, we found the following in 11,546 subjects from the Lublin region (villagers aged over 18): overweight in 36% women and 34% of men, and obesity in 30% of women and 10% of men, and arterial hypertension in 24.2% and DM 2 in 2.7% of the whole examined group. Within the research carried out between 1998 and 2000 we examined 3,782 persons (63%) out of 6,000 persons aged over 35 carefully selected from the Lublin town and the Lublin region villages. DM 2 was found in 17.6% of the examined in the countryside and in 14.1% from the town (newly diagnosed diabetes--75% and 56% respectively). Obesity (BMI > or = 30 kg/m2) was found in 30.8% of the examined from villages and 30.1% town dwellers, arterial hypertension (RR > or = 140/90 mmHg) was found in 69.4% villagers and 68.6% subjects from the town. Total serum cholesterol > or = 5.2 mmol/l (200 mg/dl) was found in 66.4% of the examined from the countryside and in 60% from the town, LDL-cholesterol > or = 3.5 mmol/l (135 mg/dl) was found in 57.3% and 52.6% respectively, and triglycerides > or = 1.7 mmol/l (150 mg/dl) in 33,3% and 44.8 respectively. Hypo-HDL-cholesterolaemia was found in 21.7% of the examined from villages and in 31.4% of the examined from Lublin. 76.5% of the examined from the countryside and 72.7% from the town had a raised WHR index. PMID:15315027

  4. Angelman Syndrome Foundation

    MedlinePLUS

    ... Testing Labs and Resources Medical Information Angelman Syndrome Behaviors Informational Series Individuals with AS Photo Gallery Genetic Mechanisms of Angelman Syndrome Normal 15 Chromosome We ...

  5. Alport Syndrome Foundation

    MedlinePLUS

    ... Alport Syndrome through education, empowerment, advocacy, and funding research. 2015 Alport Syndrome Foundation Inc. All Rights Reserved | Privacy Policy | Sitemap | Disclaimer Arizona Web Design by Artistik Designs ")});

  6. CFC syndrome: a syndrome distinct from Noonan syndrome.

    PubMed

    Verloes, A; Le Merrer, M; Soyeur, D; Kaplan, J; Pangalos, C; Rigo, J; Briard, M L

    1988-01-01

    We report two children with a common pattern of birth defects. Both have very sparse, curly hair, nystagmus and mental retardation. The first one has Noonan syndrome habitus associated with keratosis plantaris and nystagmus; the second one has a slightly Noonan-like face, macrocephaly, keratosis pilaris, and hypertrophic cardiomyopathy. They represent the extreme of a spectrum of congenital defects recently reported independently as CFC syndrome by Reynolds and as "Noonan-like short stature syndrome with sparse hair" by Baraitser and Patton. The clinical features are reviewed and the autonomy of the syndrome with regards to Noonan syndrome, is disputed, since every sign seems to occur independently in Noonan syndrome. The father of the second case probably has a minor syndrome expression, pointing to probable autosomal dominant inheritance. PMID:3265306

  7. Morvan Syndrome

    PubMed Central

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  8. Ortner's syndrome

    PubMed Central

    Shahul, Hameed Aboobackar; Manu, Mohan K; Mohapatra, Aswini Kumar; Magazine, Rahul

    2014-01-01

    A 42-year-old man with a significant smoking history presented with chronic expectorative cough and exertional shortness of breath with recent-onset hoarseness. Chest examination was essentially normal and cardiovascular examination was suggestive of aortic regurgitation. Ears, nose and throat evaluation showed left vocal cord palsy and CT scan revealed an aortic arch aneurysm. Ortner's syndrome refers to hoarseness due to recurrent laryngeal nerve palsy secondary to a cardiovascular abnormality. Aortic aneurysms usually present with chest pain, back pain or epigastric pain, depending on the site of the aneurysm. An aortic arch aneurysm presenting as hoarseness is extremely rare. PMID:24618861

  9. Myelodysplastic Syndromes

    PubMed Central

    Odenike, Olatoyosi; Anastasi, John; Le Beau, Michelle M.

    2015-01-01

    Synopsis The myelodysplastic syndromes are a diverse group of clonal stem cell disorders characterized by ineffective hematopoiesis, peripheral cytopenias, and an increased propensity to evolve to acute myeloid leukemia. The molecular pathogenesis of these disorders is poorly understood, but recurring chromosomal abnormalities occur in ~50% of cases, and are the focus of much investigation. The availability of newer molecular techniques has allowed the identification of additional genetic aberrations, including mutations and epigenetic changes of prognostic and potential therapeutic importance. This review will focus on the key role of cytogenetic analysis in MDS in the context of the diagnosis, prognosis, and pathogenesis of these disorders. PMID:22118747

  10. Postmenopausal syndrome

    PubMed Central

    Dalal, Pronob K.; Agarwal, Manu

    2015-01-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  11. Brugada Syndrome.

    PubMed

    Refaat, Marwan M; Hotait, Mostafa; Scheinman, Melvin

    2016-03-01

    Brugada syndrome might stay undetected in patients until surviving cardiac arrest. Despite the prominent advances in exploring the disease in the past 2 decades, many questions remain unanswered and the controversies continue. Despite all mutations identified to be associated with the disease, two-thirds of cases have a negative genetic test. Future studies should be more directed on modulating factors and their impact on patients' risk for sudden death to help physicians in risk stratifying their patients and optimally implementing an implantable cardioverter defibrillator to prevent sudden cardiac death. PMID:26920201

  12. Antiphospholipid syndrome

    PubMed Central

    Espinosa, Gerard; Cervera, Ricard

    2008-01-01

    Antiphospholipid syndrome is diagnosed when arterial or venous thrombosis or recurrent miscarriages occur in a person in whom laboratory tests for antiphospholipid antibodies (anticardiolipin antibodies and/or lupus anticoagulant and/or anti-beta 2-glycoprotein I) are positive. Despite the strong association between antiphospho-lipid antibodies and thrombosis, their pathogenic role in the development of thrombosis has not been fully elucidated. Novel mechanisms involving both the complement pathway and micro-particles have been described. The knowledge of these new pathogenic approaches might identify novel therapeutic targets and therefore may improve the management of these patients. PMID:19090981

  13. [Alagille syndrome].

    PubMed

    Ciocca, Mirta; Alvarez, Fernando

    2012-12-01

    Alagille syndrome (AS) is a multisystemic disease autosomal dominant, with variable expression. The major clinical manifestations are: chronic cholestasis, congenital heart disease, posterior embryotoxon in the eye, characteristic facial phenotype, and butterfy vertebrae. AS is caused by mutations in JAGGED1 (more than 90%) and in NOTCH2. Differential diagnosis include: infections, genetic-metabolic diseases, biliary atresia, idiopathic cholestasis. Cholestasis, pruritus and xanthomas have been successfully treated with choleretic agents (ursodeoxycholic acid) and other medications (cholestyramine, rifampin, naltrexone). In certain cases, partial external biliary diversion has also proved successful. Liver transplantation is indicated in children with cirrhosis and liver failure. PMID:23224309

  14. Rett syndrome.

    PubMed

    Ben Zeev Ghidoni, Bruria

    2007-07-01

    Rett syndrome (RS) is an X-linked neurodevelopmental disorder and the second most common cause of genetic mental retardation in females. Different mutations in MECP2 are found in up to 95% of typical cases of RS. This mainly neuronal expressed gene functions as a major transcription repressor. Extensive studies on girls who have RS and mouse models are aimed at finding main gene targets for MeCP2 protein and defining neuropathologic changes caused by its defects. Studies comparing autistic features in RS with idiopathic autism and mentally retarded patients are presented. Decreased dendritic arborization is common to RS and autism, leading to further research on similarities in pathogenesis, including MeCP2 protein levels in autistic brains and MeCP2 effects on genes connected to autism, like DLX5 and genes on 15q11-13 region. This area also is involved in Angelman syndrome, which has many similarities to RS. Despite these connections, MECP2 mutations in nonspecific autistic and mentally retarded populations are rare. PMID:17562589

  15. Lowe syndrome

    PubMed Central

    Loi, Mario

    2006-01-01

    Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type) becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5) bisphosphate 5 phosphatase, PtdIns (4,5)P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years. PMID:16722554

  16. Meckel syndrome.

    PubMed Central

    Salonen, R; Paavola, P

    1998-01-01

    Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases. Additional anomalies are frequent. A common characteristic of the parenchymal changes of many organs is a proliferation of the stromal connective tissue and increase and dilatation of the associated epithelial ducts. Autosomal recessive inheritance is well confirmed and the gene locus has been mapped to chromosome 17q21-24 by genome wide linkage study. The locus was later refined to within a less than 1 cM region (17q22), in which most of the Finnish MKS patients share a common chromosomal haplotype suggesting one major and relatively old mutation. However, in most of the non-Finnish MKS families studied, this linkage could not be confirmed. The linkage studies provide evidence that more than one locus is involved in bringing about the combination of CNS malformations, cystic kidneys, and polydactyly, maybe even in typical cases of MKS. Prenatal diagnosis of MKS by vaginal ultrasound scan is possible from 11-12 weeks of pregnancy, especially in families where there is a known risk. In those families where linkage to 17q22 is established, prenatal diagnosis by DNA analysis is possible. Images PMID:9643292

  17. Hemophagocytic syndrome.

    PubMed

    Al-Talag, A H; Mohamed, A E; Dafulla, M M; Ghandour, Z; Al-Karawi, M A; Haleem, A

    2000-10-01

    This case report is about an elderly man who presented with a long-standing history of high-grade fever and weight loss. He initially had only hepatosplenomegaly, but then developed jaundice. He also had pancytopenia and raised liver enzymes. His septic screen was negative, but he had a positive Monospot test and immunoglobulin G for Epstein-Barr virus. The liver biopsy showed sinusoidal phagocytosis and the subsequent bone marrow aspiration and biopsy showed significant hemophagocytosis, hence Hemophagocytic syndrome was diagnosed. The fever was refractory to antibiotic and anti-tuberculosis therapy, but it responded only partially to steroids. Full response was only noticed following anti-viral treatment in the form of intravenous Ganciclovir. The patient's general condition, liver enzymes, bilirubin, hematological parameters and even the weight returned back to their normal range 2 weeks after Ganciclovir therapy. Cessation of this drug resulted in relapse of his symptoms and oral antivirals did not help. Splenectomy, steroid pulse therapy and immunosuppressive treatment were only partially helpful. Reintroduction of Ganciclovir did help for a short period. We conclude that our patient had virus-associated hemophagocytic syndrome most likely related to Epstein-Barr virus infection, which was then confirmed by the splenic biopsy, and that Ganciclovir can be of great help in eradicating the virus and treating the disease, provided that it is given for a long enough period. PMID:11369969

  18. Lowe syndrome.

    PubMed

    Loi, Mario

    2006-01-01

    Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type) becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5) bisphosphate 5 phosphatase, PtdIns (4,5)P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years. PMID:16722554

  19. [Mirizzi's syndrome].

    PubMed

    Roullet-Audy, J C; Guivarc'h, M; Mosnier, H

    1989-04-15

    Six cases of Mirizzi syndrome are reported. The syndrome consists of a special anatomical variant of the cystic duct, which has a low opening but runs side-by-side with the common bile duct, associated with entrapment of a gallstone in the cystic duct or the neck of the gallbladder, partial or total obstruction of the hepatic duct by the stone and by inflammatory lesions, and recurrent cholangitis. Clinical signs are non-specific and suggest at first sight an obstructive jaundice. Pre-operative morphological examination seldom provide a diagnosis before surgery. In the most typical cases ultrasonography shows dilatation of the upper biliary tract with narrowing of the hepatic duct below the dilatation, due to a stone located outside the common bile duct. Opacification of the biliary tract by endoscopic retrograde catheterization of the papilla duodeni or by transparietohepatic puncture give suggestive images (non-opacification of the cystic duct, narrowing of the hepatic duct opposite the extrinsic compression, with overlying dilatation), but these images are not specific. The per-operative diagnosis is difficult owing to the inflammatory lesions, and a diagnosis of cholangiocarcinoma may be envisaged. Cholecystectomy with recanalization of the cystic duct suppresses the extrinsic compression and helps the inflammatory lesions to regress. However, opening and draining the common bile duct is often necessary. PMID:2524051

  20. [Hyponatremic syndrome].

    PubMed

    Urso, C; Caimi, G

    2012-01-01

    Sodium, the most important extracellular fluid electrolyte, is the focus of several homeostatic mechanisms that regulate fluid and electrolyte balance. Hyponatremia is a common electrolyte abnormality caused by an actual sodium deficiency or extracellular compartment fluid excess. Clinical symptoms are related with acuity and speed with which this abnormality is established. The symptoms are mainly neurological and neuromuscular disorders (headache, confusion, stupor, seizures, coma) due to brain cells edema. Hyponatremia due to sodium deficiency is caused by sodium loss from kidney (nephritis, diuretics, mineralocorticoid deficiency) and / or extrarenal (vomiting, diarrhea, burns). Hyponatremia due to water excess seems to be the most common and it is attributable to cirrhosis, nephrotic syndrome, heart failure, infusion 5% glucose solutions and drugs that stimulate ADH secretion. It was recently highlighted the role of inflammation and IL-6 in the non-osmotic ADH release. Hyponatremia is considered also marker of phlogosis. Acute (<48 h) and severe (<125 mEq/ L) hyponatremia is a medical emergency that requires prompt correction. Patients with chronic hyponatremia have a high risk of osmotic demyelination syndrome if rapid correction of the plasmatic sodium occurs. In combination with conventional therapy, a new class of drugs, vasopressin receptors antagonists (AVP-R antagonists) would be able to increase the excretion of electrolyte-free water and the serum sodium concentration. PMID:22362242

  1. Holmes-Adie Syndrome

    MedlinePLUS

    ... Adie syndrome Information Page Synonym(s): Adie's Syndrome, Adie's Pupil Table of Contents (click to jump to sections) What is Holmes-Adie syndrome ? Is there any treatment? What is the prognosis? What ... syndrome (HAS) is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. ...

  2. Allergic acute coronary syndrome (Kounis syndrome)

    PubMed Central

    Chhabra, Lovely; Masrur, Shihab; Parker, Matthew W.

    2015-01-01

    Anaphylaxis rarely manifests as a vasospastic acute coronary syndrome with or without the presence of underlying coronary artery disease. The variability in the underlying pathogenesis produces a wide clinical spectrum of this syndrome. We present three cases of anaphylactic acute coronary syndrome that display different clinical variants of this phenomenon. The main pathophysiological mechanism of the allergic anginal syndromes is the inflammatory mediators released during a hypersensitivity reaction triggered by food, insect bites, or drugs. It is important to appropriately recognize and treat Kounis syndrome in patients with exposure to a documented allergen. PMID:26130889

  3. Human imprinting syndromes.

    PubMed

    Lim, Derek Hk; Maher, Eamonn R

    2009-12-01

    Human imprinting disorders can provide critical insights into the role of imprinted genes in human development and health, and the molecular mechanisms that regulate genomic imprinting. To illustrate these concepts we review the clinical and molecular features of several human imprinting syndromes including Beckwith-Wiedemann syndrome, Silver-Russell syndrome, Angelman syndrome, Prader-Willi syndrome, pseudohypoparathyroidism, transient neonatal diabetes, familial complete hydatidiform moles and chromosome 14q32 imprinting domain disorders. PMID:22122706

  4. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  5. Hepatopulmonary Syndrome.

    PubMed

    Lv, Yong; Fan, Daiming

    2015-07-01

    Hepatopulmonary syndrome (HPS) is a pulmonary complication observed in patients with chronic liver disease and/or portal hypertension, attributable to an intrapulmonary vascular dilatation that may induce severe hypoxemia. Microvascular dilation and angiogenesis in the lung have been identified as pathologic features that drive gas exchange abnormalities in experimental HPS. Pulse oximetry is a useful screening test for HPS, which can guide subsequent use of arterial blood gases. Contrast-enhanced echocardiography, perfusion lung scanning, and pulmonary arteriography are three currently used diagnostic imaging modalities that identify the presence of intrapulmonary vascular abnormalities. The presence of HPS increases mortality and impairs quality of life, but is reversible with liver transplantation. No medical therapy is established as effective for HPS. At the present time, liver transplantation is the only available treatment for HPS. PMID:25732713

  6. Nodding Syndrome

    PubMed Central

    Sejvar, James J.; Riek, Lul; Vandemaele, Katelijn A.H.; Lamunu, Margaret; Kuesel, Annette C.; Schmutzhard, Erich; Matuja, William; Bunga, Sudhir; Foltz, Jennifer; Nutman, Thomas B.; Winkler, Andrea S.; Mbonye, Anthony K.

    2013-01-01

    An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5–15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case–control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy. PMID:23965548

  7. Nodding syndrome.

    PubMed

    Dowell, Scott F; Sejvar, James J; Riek, Lul; Vandemaele, Katelijn A H; Lamunu, Margaret; Kuesel, Annette C; Schmutzhard, Erich; Matuja, William; Bunga, Sudhir; Foltz, Jennifer; Nutman, Thomas B; Winkler, Andrea S; Mbonye, Anthony K

    2013-01-01

    An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5-15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case-control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy. PMID:23965548

  8. Rett Syndrome

    PubMed Central

    Smeets, E.E.J.; Pelc, K.; Dan, B.

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression. PMID:22670134

  9. [Stormorken's syndrome].

    PubMed

    Stormorken, Helge

    2002-12-10

    In 1985, a new syndrome with the following characteristics was described: thrombopathia, thrombopenia, asplenia, miosis, headache, ichthyosis, dyslexia, muscle defect, and subsequently also hypocalcaemia. Skin and deep bleedings, leg spasms, disturbed dark vision and dyslexia are main worries. This paper describes these patients with a review of the investigations performed. Causes of the bleeding tendency are complex disturbances of the platelet membrane causing insufficient stability of the haemostatic plug, the nature of which is unresolved, but involves membrane scrambling. The muscle defect consists in tubular aggregates and high blood values of creatine kinase. A connection with the hypocalcaemia is possible, because increasing the ionic Ca with calcitriol significantly improves muscle function. Miosis is resistant to mydriatics and causes decreased dark vision, possibly also influencing dyslexia. The asplenia has little influence on immunocompetence, and the patients have survived 300 patient years without critical infections. The gene defect has not yet been unravelled. PMID:12569706

  10. Fraser Syndrome.

    PubMed

    Saleem, Adnan Aslam; Siddiqui, Sorath Noorani

    2015-10-01

    Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2 and GRIP1 genes have been linked to FS. FS can be diagnosed on clinical examination, pre-natal ultrasound or perinatal autopsy. We present a case of a 3 months old child born to consanguineous healthy parents with bilateral complete CO, unilateral microphthalmia, hypertelorism, syndactyly (hands and feet bilaterally), ambiguous genitalia with cryptorchidism and an umbilical hernia. We also present the criteria for diagnosing FS and the significant features on pre-natal ultrasonography. Around 200 case reports of patients with FS and CO have been published. To our knowledge, this is the first reported case of FS in Pakistan. PMID:26522198

  11. Lowe syndrome

    PubMed Central

    Madhivanan, Kayalvizhi; Mukherjee, Debarati; Aguilar, R. Claudio

    2012-01-01

    Lowe syndrome (LS) is a lethal X-linked genetic disease caused by functional deficiencies of the phosphatidlyinositol 5-phosphatase, Ocrl1. In the past four years, our lab described the first Ocrl1-specific cellular phenotypes using dermal fibroblasts from LS patients. These phenotypes, validated in an ocrl1-morphant zebrafish model, included membrane remodeling (cell migration/spreading, fluid-phase uptake) defects and primary cilia assembly abnormalities. On one hand, our findings unraveled cellular phenotypes likely to be involved in the observed developmental defects; on the other hand, these discoveries established LS as a ciliopathy-associated disease. This article discusses the possible mechanisms by which loss of Ocrl1 function may affect RhoGTPase signaling pathways leading to actin cytoskeleton rearrangements that underlie the observed cellular phenotypes. PMID:23739214

  12. Sjögren syndrome

    MedlinePLUS

    Xerostomia-Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... Sjögren syndrome is defined as dry eyes and dry mouth without another autoimmune disorder. Secondary Sjögren syndrome occurs ...

  13. Genetics Home Reference: Robinow syndrome

    MedlinePLUS

    ... dwarfism-small genitalia syndrome Robinow dwarfism Robinow-Silverman-Smith syndrome Robinow-Silverman syndrome Robinow's syndrome For more ... a page outside Genetics Home Reference. Links to web sites outside the Federal Government do not constitute ...

  14. Genetics Home Reference: Menkes syndrome

    MedlinePLUS

    ... include treatment providers. Gene Review: ATP7A-Related Copper Transport Disorders Genetic Testing Registry: Menkes kinky-hair syndrome ... names do people use for Menkes syndrome? Copper transport disease Hypocupremia, Congenital Kinky Hair Syndrome Menkea syndrome ...

  15. Genetics Home Reference: Poland syndrome

    MedlinePLUS

    ... understanding Poland syndrome? arteries ; autosomal ; autosomal dominant ; brachydactyly ; cell ; dextrocardia ; embryonic ; gene ; inherited ; kidney ; puberty ; sporadic ; syndactyly ; syndrome ; ulna ; ...

  16. Premenstrual syndrome

    PubMed Central

    Yonkers, Kimberly Ann; O’Brien, P M Shaughn; Eriksson, Elias

    2011-01-01

    Most women of reproductive age have some physical discomfort or dysphoria in the weeks before menstruation. Symptoms are often mild, but can be severe enough to substantially affect daily activities. About 5–8% of women thus suffer from severe premenstrual syndrome (PMS); most of these women also meet criteria for premenstrual dysphoric disorder (PMDD). Mood and behavioural symptoms, including irritability, tension, depressed mood, tearfulness, and mood swings, are the most distressing, but somatic complaints, such as breast tenderness and bloating, can also be problematic. We outline theories for the underlying causes of severe PMS, and describe two main methods of treating it: one targeting the hypothalamus-pituitary-ovary axis, and the other targeting brain serotonergic synapses. Fluctuations in gonadal hormone levels trigger the symptoms, and thus interventions that abolish ovarian cyclicity, including long-acting analogues of gonadotropin-releasing hormone (GnRH) or oestradiol (administered as patches or implants), effectively reduce the symptoms, as can some oral contraceptives. The effectiveness of serotonin reuptake inhibitors, taken throughout the cycle or during luteal phases only, is also well established. PMID:18395582

  17. Angelman syndrome.

    PubMed

    Kyllerman, Mårten

    2013-01-01

    Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy. The physical "prototype" includes microcephaly with flat neck, fair skin and hair, wide-spaced teeth, and open mouth with tongue protrusion. Epilepsy is characterized by atypical absences, erratic myoclonus, and occasional tonic-clonic seizures. EEG demonstrates high-amplitude 2-3Hz delta activity with spike and slow-wave discharges and sleep-activated generalized epileptiform discharges. Sodium valproate, benzodiazepines, and priacetam are frequently used and effective. Development is generally slow, the majority attaining independent walking in the first 2.5-6 years. Vocabulary is limited to a few single words with superior speech and object apprehension. The condition is due to a lack of expression of the UBE3A gene on chromosome 15q. Maternal deletions of 15q11-13 produce the most pronounced phenotype (65-70% of probands), uniparental disomy and imprinting center mutations (10%), and UBE3A point mutations (11%) produce milder phenotypes. PMID:23622177

  18. [Premenstrual syndrome].

    PubMed

    Breckwoldt, M; Keck, Ch

    2002-04-01

    The Premenstrual Syndrome (PMS) is defined as the repeated occurrence of psychic disability accompanied by physical symptoms such as weight-gain, mastodynia and edema during the luteal phase. Irritability, depressive mood, lack of concentration and anxiety are the dominant psychiatric features. These symptoms culminate during the premenstrual period and disappear at the onset of menstrual bleeding. The symptomatology is of variable degree. About 2 to 3% of all women of reproductive age are severely impaired by these symptoms. The etiology of PMS is unknown. Disturbance of serotonin metabolism in the central nervous system is discussed. Furthermore abnormalities of the metabolism of sex-steroids in the brain could be involved, since these metabolites are able to modulate the GABA-ergic system. This applies in particular to progesterone-metabolites. Other etiologic concepts favour the ideas of elevated aldosterone activity, variations of endogenous opiod-levels or transient hyperprolactinemia. Thus the unknown etiology and the complex pathophysiology explain the polypragmatic therapeutic strategies including psychotherapy, treatment with psychopharmacologic agents, administration of aldosterone-antagonists, GnRH-analoga and finally prescription of oral contraceptives. The management of PMS requires individualized care by primarily treating the leading symptoms. PMID:12018036

  19. Parkinsonian Syndromes

    PubMed Central

    Williams, David R.; Litvan, Irene

    2013-01-01

    Purpose of Review The different parkinsonian conditions can be challenging to separate clinically. This review highlights the important clinical features that guide the diagnosis of Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD). Strategies for treatment and disease management are also discussed. Recent Findings Over the past decade there has been an increasing recognition of the broad clinical presentations of the neurodegenerative forms of parkinsonism. Nonmotor symptoms in these diseases, including psychiatric, cognitive, autonomic, and gastrointestinal dysfunction, appear to have a major impact on quality of life and disability. PSP and CBD are now considered pathologic diagnoses, with several different and varied clinical phenotypes, that overlap and share features with PDand frontotemporal dementia syndromes. PD is distinguished by its excellent response to dopaminergic medications that is maintained over many years, in contrast to the response seen in patients with MSA and PSP. New diagnostic criteria have been proposed for CBD. No new therapeutic interventions have emerged for PSP, MSA, or CBD. Infusional therapies and deep brain stimulation surgery are established therapies for advanced PD. Summary The “parkinsonian syndromes” encompass a number of nosologic entities that are grouped together on the basis of their shared clinical features but are separated on the basis of their different pathologies. Overall, the consideration of clinical signs, mode of disease onset, and nature of disease progression are all important to make a timely and definitive diagnosis. PMID:24092286

  20. Tourette Syndrome

    PubMed Central

    Chan, Lisa; Lehman, Erik; Brown, Ashley D.; Ahmad, Syeda; Berlin, Cheston

    2015-01-01

    A retrospective analysis of a 35-year single-center experience with pediatric tics and Tourette syndrome was conducted. 482 charts from 1972 to 2007 were reviewed. Follow-up surveys were mailed to last known address and 83 patients responded (17%). Response rate was affected by long interval from last visit; contact information was often incorrect as it was the address of the patient as a child. Males constituted 84%. Mean tic onset was 6.6 years. At first visit, 83% had multiple motor tics and >50% had comorbidities. 44% required only 1 visit and 90% less than 12 visits. Follow-up showed positive clinical and social outcomes in 73/83 survey responses. Of those indicating a poor outcome, mean educational level was lower and attention deficit/hyperactivity disorder and learning disabilities were significantly higher. Access to knowledgeable caregivers was a problem for adult patients. A shortage of specialists may in part be addressed by interested general pediatricians. PMID:25200367

  1. Angelman Syndrome.

    PubMed

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found. PMID:26040994

  2. Pisa Syndrome.

    PubMed

    Michel, Sáenz Farret; Oscar, Arias Carrión; Correa, Thalia Estefania Sánchez; Alejandro, Pellene Luis; Micheli, Federico

    2015-01-01

    Lateral trunk flexion is often seen in patients with Parkinson disease, sometimes coming on as a subacute phenomenon associated with medication adjustments, and in others with gradual onset that seems related to a neurodegenerative process related to the evolution of the disease.Either acute or subacute presentations seem to be pure abnormalities in the coronal plane and are usually reversible. However, a chronic form occurs often in a combined fashion with anteroposterior flexion (camptocormia), improves only partially, remains stable, or even worsens over time.The acute/subacute phenotype is the condition originally named as Pisa syndrome (PS).The pathophysiology of PS remains poorly understood, and a cholinergic-dopaminergic imbalance has been suggested as being involved in the cause of this disorder. The role of other neurotransmitters and how they become dysfunctional in PS remains to be elucidated.Specific treatments, other than discontinuing the medications responsible for the disorder, whenever possible, are undeveloped because of the unknown etiology. PMID:26166239

  3. Lennox-Gastaut Syndrome

    MedlinePLUS

    ... Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. ... broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed ...

  4. Anisocoria and Horner's Syndrome

    MedlinePLUS

    ... In children, Horner’s syndrome may be caused by neuroblastoma, a tumor arising in another part of the body. Although rare, the risk of neuroblastoma is significantly greater with acquired Horner’s syndrome than ...

  5. Learning about Klinefelter Syndrome

    MedlinePLUS

    ... for the genetic terms used on this page Learning About Klinefelter Syndrome What is Klinefelter syndrome? What ... they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in ...

  6. Fragile X Syndrome

    MedlinePLUS

    ... syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. ... of males with fragile X syndrome demonstrate significant intellectual disability (formerly referred to as “mental retardation”). Disabilities in ...

  7. Sick sinus syndrome

    MedlinePLUS

    ... rhythms worse. These include digitalis, calcium channel blockers, beta-blockers, and anti-arrhythmics. ... low. Sick sinus syndrome may cause symptoms of heart failure to start or get worse. Sick sinus syndrome ...

  8. Schwartz–Jampel syndrome

    PubMed Central

    Chandra, Sadanandavalli Retnaswami; Issac, Thomas Gregor; Gayathri, N.; Shivaram, Sumanth

    2015-01-01

    Schwartz–Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters. PMID:26167227

  9. Obesity Hypoventilation Syndrome

    MedlinePLUS

    ... Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is ... e-DE-mah), pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), cor pulmonale (pul-meh-NAL- ...

  10. HAMARTOMATOUS POLYPOSIS SYNDROMES

    PubMed Central

    Calva, Daniel; Howe, James R.

    2009-01-01

    Synopsis Since the histological description of the hamartomatous polyp in 1957 by Horrilleno et al., several different syndromes have been described with the propensity to develop these polyps in the upper and lower GI tracts. These include Juvenile Polyposis, Peutz-Jeghers syndrome, hereditary mixed polyposis syndrome, and the PTEN hamartoma tumor syndromes (Cowden and Bannayan-Riley-Ruvalcaba syndromes), which are autosomal-dominantly inherited, and Cronkhite-Canada syndrome, which is acquired. The clinical aspects, the molecular pathogenesis, the organ systems affected, the risks of cancer, and the management of these hamartomatous polyposis syndromes will be reviewed in this paper. Although the incidence of these syndromes is low, it is important for clinicians to recognize these disorders in order to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in patients at risk. PMID:18672141

  11. Green Nail Syndrome

    MedlinePLUS

    ... Rights Job Postings Sections of the JAOCD JAOCD Archive Published Members Online Dermatology Journals Edit This Favorite Name: Category: Share: Yes No, Keep Private Green Nail Syndrome Share | Green nail syndrome (GNS) ...

  12. Fragile X Syndrome.

    ERIC Educational Resources Information Center

    de la Cruz, Felix F.

    1985-01-01

    Physical, psychological, and cytogenic characteristics of individuals with the Fragile X syndrome are reviewed. Prospects for therapy with folic acid, prenatal diagnosis, phenotype of heterozygote for the marker X, and unresolved issues about the syndrome are discussed. (CL)

  13. Postural Tachycardia Syndrome

    MedlinePLUS

    ... Trials Organizations What is Postural Tachycardia Syndrome? Postural orthostatic tachycardia syndrome (POTS) is one of a group of disorders that have orthostatic intolerance (OI) as their primary symptom. OI describes ...

  14. Munchausen syndrome by proxy

    MedlinePLUS

    Factitious disorder by proxy ... one is sure what causes Munchausen syndrome by proxy. Sometimes the person was abused as a child ... to see a diagnosis of Munchausen syndrome by proxy. What are signs in a child? The child ...

  15. Dubin-Johnson syndrome

    MedlinePLUS

    Dubin-Johnson syndrome is a disorder passed down through families (inherited) in which a person has mild jaundice throughout ... Dubin-Johnson syndrome is a very rare genetic disorder. In order to inherit the condition, a child must get ...

  16. Riley-Day syndrome

    MedlinePLUS

    Riley-Day syndrome is an inherited disorder that affects nerves throughout the body. ... Riley-Day syndrome is passed down through families (inherited). A person must inherit a copy of the defective gene ...

  17. Restless legs syndrome

    MedlinePLUS

    Restless legs syndrome (RLS) is a nervous system problem that causes you to feel an unstoppable urge to get ... DA, Bista SR, et al. The treatment of restless legs syndrome and periodic limb movement disorder in adults-an ...

  18. What Is Marfan Syndrome?

    MedlinePLUS

    ... 11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to-Read ... Done on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts of ...

  19. Carpal tunnel syndrome

    MedlinePLUS

    Carpal tunnel syndrome is a condition in which there is excessive pressure on the median nerve. This is the ... and movement to parts of the hand. Carpal tunnel syndrome can lead to numbness, tingling, weakness, or ...

  20. National Down Syndrome Society.

    ERIC Educational Resources Information Center

    Exceptional Parent, 1984

    1984-01-01

    The article describes the history and current status of the National Down Syndrome Society and presents the society's fact sheet on Down Syndrome which lists common characteristics and developmental variations. (CL)

  1. Complex regional pain syndrome

    MedlinePLUS

    CRPS; RSDS; Causalgia - RSD; Shoulder-hand syndrome; Reflex sympathetic dystrophy syndrome; Sudeck atrophy ... Doctors are not sure what causes CRPS. In some cases, the sympathetic ... role in the pain. Another theory is that CRPS is caused by ...

  2. [Disseminated pigmented nevus syndrome].

    PubMed

    Cabrera, H N; Savoia, J; Pietropaolo, N; Sánchez, G

    1988-01-01

    Two patients carriers of a neuro-cutaneous syndrome showing scattered pigmentary nevus and neurologic disorders are exposed, who are added to three similar cases presented in a previous publication. Differences with other syndromes that show cafe-au-lait spots, like those of Recklinghausen and Albright, and also of other known publications, are remarked. Ultrastructural studies are contributed. The denomination of "disseminated pigmentary nevus syndrome" is proposed in comparison with the epidermal nevus syndrome. PMID:3050324

  3. [Myelodysplastic syndromes].

    PubMed

    Thol, F; Heuser, M; Ganser, A

    2015-04-01

    Myelodysplastic syndrome (MDS) encompasses a heterogeneous group of diseases originating in hematopoietic stem cells and is characterized by inefficient hematopoiesis and dysplastic changes in the bone marrow. In peripheral blood patients show anemia (mostly macrocytic), frequently accompanied by neutropenia and thrombocytopenia. Thus, clinically the patients suffer from fatigue (anemia), increased bleeding (thrombocytopenia) and infectious complications (neutropenia). Approximately one quarter of MDS patients develop acute myeloid leukemia (AML) in the course of the disease, which is characterized by a 20?% or more increase of blasts in the bone marrow. The estimated overall survival as well as the risk for AML transformation can be calculated with the international prognostic scoring system (IPSS) as well as the revised IPSS score (IPSS-R). Novel sequencing methods (e.g. next generation sequencing) allow the detection of recurrent gene mutations in MDS patients. Genes of the splicing machinery as well as genes involved in epigenetic regulation (e.g. ASXL1 and TET2) are most frequently mutated in MDS. Therapy is selected based on the patient risk profile (IPSS). Allogeneic stem cell transplantation is a curative approach for high risk patients (i.e. IPSS int-2 and higher) with a good performance status and a biological age below 70 years. Otherwise, high risk patients are treated with demethylating agents (e.g. decitabine and azacitidine). Low risk patients (IPSS low and int-1) mainly receive supportive therapy including iron chelation. An exceptional position is presented by MDS with an isolated 5q deletion as it can be treated with lenalidomide with good success. Enrolling patients in clinical trials is strongly recommended to improve the prospects of this disease. PMID:25700647

  4. Moebius Syndrome Foundation

    MedlinePLUS

    ... want to miss it! View … Buy MSF Apparel Online! T-shirts, long sleeve t-shirts and hoodies now available! All proceeds benefit the Moebius Syndrome Foundation. Click here to start shopping. What is Moebius syndrome? Moebius syndrome is a ...

  5. CONSTIPATION IN RETT SYNDROME

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Gastrointestinal problems occur frequently in girls with Rett syndrome. Constipation is a common problem in girls with Rett syndrome because of their neurological abnormalities. Research studies to better understand the abnormalities of large bowel function in our girls with Rett syndrome have not b...

  6. Miller Fisher Syndrome

    MedlinePLUS

    Miller Fisher Syndrome To obtain more information, contact the GBS/CIDP Foundation International The Holly Building 104 1 / 2 Forrest ... Science and Education. What Is Miller Fisher Miller Fisher syndrome (MFS), also called Fisher’s syndrome, usually begins with ...

  7. Irritable Bowel Syndrome

    MedlinePLUS

    ... ePublications > Irritable bowel syndrome (IBS) fact sheet ePublications Irritable bowel syndrome (IBS) fact sheet This information in Spanish (en español) Print this fact sheet Irritable bowel syndrome (IBS) fact sheet (PDF, 533 KB) Related ...

  8. Munchausen by Proxy Syndrome

    MedlinePLUS

    ... Your Child All About Food Allergies Munchausen by Proxy Syndrome KidsHealth > For Parents > Munchausen by Proxy Syndrome Print A A A Text Size What's ... Help for the Parent or Caregiver Munchausen by proxy syndrome (MBPS) is a relatively rare form of ...

  9. The Axenfeld syndrome and the Rieger syndrome.

    PubMed Central

    Fitch, N; Kaback, M

    1978-01-01

    A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence. Images PMID:416212

  10. Hypereosinophilic syndromes

    PubMed Central

    Roufosse, Florence E; Goldman, Michel; Cogan, Elie

    2007-01-01

    Hypereosinophilic syndromes (HES) constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months) associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to middle-aged patients, but may concern any age group. Male predominance (4–9:1 ratio) has been reported in historic series but this is likely to reflect the quasi-exclusive male distribution of a sporadic hematopoietic stem cell mutation found in a recently characterized disease variant. Target-organ damage mediated by eosinophils is highly variable among patients, with involvement of skin, heart, lungs, and central and peripheral nervous systems in more than 50% of cases. Other frequently observed complications include hepato- and/or splenomegaly, eosinophilic gastroenteritis, and coagulation disorders. Recent advances in underlying pathogenesis have established that hypereosinophilia may be due either to primitive involvement of myeloid cells, essentially due to occurrence of an interstitial chromosomal deletion on 4q12 leading to creation of the FIP1L1-PDGFRA fusion gene (F/P+ variant), or to increased interleukin (IL)-5 production by a clonally expanded T cell population (lymphocytic variant), most frequently characterized by a CD3-CD4+ phenotype. Diagnosis of HES relies on observation of persistent and marked hypereosinophilia responsible for target-organ damage, and exclusion of underlying causes of hypereosinophilia, including allergic and parasitic disorders, solid and hematological malignancies, Churg-Strauss disease, and HTLV infection. Once these criteria are fulfilled, further testing for eventual pathogenic classification is warranted using appropriate cytogenetic and functional approaches. Therapeutic management should be adjusted to disease severity and eventual detection of pathogenic variants. For F/P+ patients, imatinib has undisputedly become first line therapy. For others, corticosteroids are generally administered initially, followed by agents such as hydroxycarbamide, interferon-alpha, and imatinib, for corticosteroid-resistant cases, as well as for corticosteroid-sparing purposes. Recent data suggest that mepolizumab, an anti-IL-5 antibody, is an effective corticosteroid-sparing agent for F/P-negative patients. Prognosis has improved significantly since definition of HES, and currently depends on development of irreversible heart failure, as well as eventual malignant transformation of myeloid or lymphoid cells. PMID:17848188

  11. Barth syndrome

    PubMed Central

    2013-01-01

    First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood. PMID:23398819

  12. The lax eyelid syndrome.

    PubMed Central

    van den Bosch, W A; Lemij, H G

    1994-01-01

    The floppy eyelid syndrome (FES) was first described in middle aged, obese men. In later descriptions, age and sex were not specifically mentioned. Associations of FES with various other syndromes have been described. The authors question whether all these cases represent the same, single, syndrome. They suggest that a clinical picture similar to FES may occur in lax upper eyelids of any cause. Four such cases are reported here. The authors therefore coin the more general term 'lax eyelid syndrome'. They suggest using the term 'floppy eyelid syndrome' uniquely for patients with the classic signs and symptoms. Images PMID:7947544

  13. Fat embolism syndrome

    PubMed Central

    George, Jacob; George, Reeba; Dixit, R.; Gupta, R. C.; Gupta, N.

    2013-01-01

    Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good. PMID:23661916

  14. Inherited cerebrorenal syndromes.

    PubMed

    Schurman, Scott J; Scheinman, Steven J

    2009-09-01

    Abnormalities in the central nervous system and renal function are seen together in a variety of congenital syndromes. This Review examines the clinical presentation and the genetic basis of several such syndromes. The X-linked oculocerebrorenal syndrome of Lowe is characterized by developmental delay, blindness, renal tubular dysfunction, and progressive renal failure. This syndrome results from mutations in the OCRL gene, which encodes a phosphatase involved in endosomal trafficking. Mutations in OCRL also occur in Dent disease, which has a milder disease phenotype than Lowe syndrome. Patients with Joubert syndrome have cerebellar ataxia, pigmentary retinopathy, and nephronophthisis. Joubert syndrome is a genetically heterogeneous condition associated with mutations in at least five genes that encode ciliary proteins. Bardet-Biedl syndrome is a clinically variable condition associated with learning disabilities, progressive visual loss, obesity, polydactyly, hypogonadism, and cystic and fibrotic renal changes that can lead to renal failure. Most of the 12 genes mutated in Bardet-Biedl syndrome are also involved in ciliary function, as are the genes implicated in other 'ciliopathies' with similar phenotypes, including Meckel syndrome. PMID:19701229

  15. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial. PMID:26564075

  16. SAPHO syndrome associated spondylitis

    PubMed Central

    Tanaka, Masato; Nakanishi, Kazuo; Misawa, Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi

    2008-01-01

    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship between SAPHO syndrome with spinal lesions and seronegative spondyloarthropathy. Thirteen patients with spondylitis in SAPHO syndrome were analyzed. The features of spinal lesions were a chronic onset with a slight inflammatory reaction, and slowly progressing non-marginal syndesmophytes at multi spinal levels, besides the coexistence of specific skin lesions. SAPHO syndrome, especially spinal lesions related to palmoplantar pustulosis, can be recognized as a subtype of seronegative spondyloarthropathy. PMID:18642032

  17. Congenital analgia syndrome.

    PubMed

    Aren, Gamze; Sepet, Elif; Erbay, Elif; Ermi?, Ismail

    2002-09-01

    Hereditary sensory and autonomic neuropathy is a rare syndrome which is seen in early childhood. Five different types have been described. Absence of pain and self-mutilation are characteristic findings of this syndrome. This report describes one female and two male children with the syndrome. The most severe oral consequence of their disorder was damage to the oral tissues and tongue. The primary aim in management was to monitor the eruption of the permanent teeth. PMID:12955568

  18. Genetics Home Reference: Gorlin syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Gorlin syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed October 2012 What is Gorlin syndrome? Gorlin syndrome, also known as nevoid basal ...

  19. Guide to Understanding Apert Syndrome

    MedlinePLUS

    a guide to understanding apert syndrome a publication of children’s craniofacial association a guide to understanding apert syndrome t his parent’s guide to Apert syndrome is designed to answer questions that are frequently ...

  20. Klippel-Trenaunay Syndrome (KTS)

    MedlinePLUS

    ... as well as in the brain is Sturge-Weber syndrome. These individuals may experience seizures and mental ... features of the Klippel-Trenaunay syndrome and Sturge-Weber syndrome coincide. Another overlapping condition is the Parkes- ...

  1. Genetics Home Reference: Jacobsen syndrome

    MedlinePLUS

    ... 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen ... disorder 11q deletion syndrome 11q- deletion syndrome 11q terminal deletion disorder Jacobsen thrombocytopenia For more information about ...

  2. Genetics Home Reference: Poland syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Poland syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed November 2015 What is Poland syndrome? Poland syndrome is a disorder in which ...

  3. Genetics Home Reference: Silver syndrome

    MedlinePLUS

    ... ClinicalTrials.gov Research studies PubMed Recent literature Conditions > Silver syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed February 2012 What is Silver syndrome? Silver syndrome belongs to a group of ...

  4. Genetics Home Reference: WAGR syndrome

    MedlinePLUS

    ... signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome. ...

  5. First Trimester Down Syndrome Screen

    MedlinePLUS

    ... Home Visit Global Sites Search Help? First Trimester Down Syndrome Screen Share this page: Was this page helpful? ... is carrying has a chromosomal abnormality such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The ...

  6. Organic brain syndrome

    MedlinePLUS

    OBS; Organic mental disorder (OMS); Chronic organic brain syndrome ... Listed below are disorders associated with OBS. Brain injury caused by ... the brain ( subarachnoid hemorrhage ) Blood clot inside the ...

  7. Chromosome instability syndromes

    SciTech Connect

    1993-12-31

    Chapter 11, discusses chromosome instability syndromes. The focus is on the most extensively studied genotypic chromosomal aberrations which include Bloom syndrome, Fanconi anemia, ataxia telangiectasia, and xeroderma pigmentosum. The great interest in these syndromes is out of proportion to their rare occurrence; however, studies of genotypic chromosome breakage have been inspired by the hope of throwing light on chromosome structure and behavior. A table is given which relates chromosomal aberrations in Bloom syndrome which may cause or promote cancer. 34 refs., 3 figs., 1 tab.

  8. Paraneoplastic neurological syndromes

    PubMed Central

    Leypoldt, F; Wandinger, K-P

    2014-01-01

    Paraneoplastic neurological syndromes are immune-mediated erroneous attacks on the central or peripheral nervous systems, or both, directed originally against the tumour itself. They have been known for more than 40 years, but recently the discovery of new subgroups of paraneoplastic encephalitis syndromes with a remarkably good response to immune therapy has ignited new clinical and scientific interest. Knowledge of these subgroups and their associated autoantibodies is important in therapeutic decision-making. However, the abundance of new autoantibodies and syndromes can be confusing. This review paper summarizes current knowledge and new developments in the field of paraneoplastic neurological syndromes, their classification, pathophysiology and treatment. PMID:23937626

  9. Locked-in syndrome.

    PubMed

    Cardwell, Michael S

    2013-02-01

    Locked-in syndrome is a rare neuropsychological disorder. Its primary features are quadriplegia and paralysis of the cranial nerves except for those responsible for vertical eye movements. The differential diagnosis includes persistent vegetative state, brain death, minimally conscious states, C3 transection of the spinal cord, and conversion locked-in syndrome. Etiologies of locked-in syndrome include hemorrhagic and thrombotic events, tumors affecting the ventral pons, infectious agents, iatrogenic causes, trauma, metabolic abnormalities, and other miscellaneous causes. The clinical manifestations, differential diagnosis, neuropsychological assessment, rehabilitation, and prognosis of patients with locked-in syndrome are discussed. PMID:23378122

  10. Syndrome in question*

    PubMed Central

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  11. Fanconi-Bickel syndrome.

    PubMed

    Mohandas Nair K; Sakamoto, Osamu; Jagadeesh, Sujatha; Nampoothiri, Sheela

    2012-01-01

    We present the first mutation proven case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly. Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous deletion insertion mutation in Glut 2 gene. PMID:21327337

  12. Cri du chat syndrome

    MedlinePLUS

    Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The syndrome’s ... Cri du chat syndrome is rare. It is caused by a missing piece of chromosome 5. Most cases are believed to ...

  13. Macrocytosis in Down Syndrome.

    ERIC Educational Resources Information Center

    Wachtel, Tom J.; Pueschel, Siegfried M.

    1991-01-01

    The study, with 61 Down Syndrome (trisomy 21) adult subjects, found that macrocytosis in the absence of anemia was virtually universal and erythrocyte survival half-time was shorter than normal. Findings suggest that erythrocytes have a younger mean age in persons with Down Syndrome, possibly indicating an accelerated aging process of red blood…

  14. Second-Impact Syndrome

    ERIC Educational Resources Information Center

    Cobb, Sarah; Battin, Barbara

    2004-01-01

    Sports-related injuries are among the more common causes of injury in adolescents that can result in concussion and its sequelae, postconcussion syndrome and second-impact syndrome (SIS). Students who experience multiple brain injuries within a short period of time (hours, days, or weeks) may suffer catastrophic or fatal reactions related to SIS.…

  15. Redefining syndromic surveillance.

    PubMed

    Katz, Rebecca; May, Larissa; Baker, Julia; Test, Elisa

    2011-12-01

    With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field's capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries. PMID:23856373

  16. Managing Sjogren's Syndrome.

    PubMed

    Grossman, Sheila; Tagliavini, Lynda B

    2015-10-01

    There are approximately 4 million Americans diagnosed with Sjogren's Syndrome. This article discusses the epidemiology, pathophysiology, diagnostics, and implications for home care clinicians who may encounter patients with this syndrome. Chronic pain is discussed as well as interventions to manage symptoms such fatigue, dry eyes mouth and skin. PMID:26418108

  17. Second-Impact Syndrome

    ERIC Educational Resources Information Center

    Cobb, Sarah; Battin, Barbara

    2004-01-01

    Sports-related injuries are among the more common causes of injury in adolescents that can result in concussion and its sequelae, postconcussion syndrome and second-impact syndrome (SIS). Students who experience multiple brain injuries within a short period of time (hours, days, or weeks) may suffer catastrophic or fatal reactions related to SIS.…

  18. National Down Syndrome Society

    MedlinePLUS

    ... Syndrome Advocacy 101 About NDSS Mission & Vision NDSS History Our Team Media Kit Financials Newsroom Shop NDSS NDSS #DSWORKS Employment ... Syndrome Advocacy 101 About NDSS Mission & Vision NDSS History Our Team Media Kit Financials Newsroom Contact Us Helpline: 800-221- ...

  19. The sick building syndrome

    PubMed Central

    Joshi, Sumedha M.

    2008-01-01

    The sick building syndrome comprises of various nonspecific symptoms that occur in the occupants of a building. This feeling of ill health increases sickness absenteeism and causes a decrease in productivity of the workers. As this syndrome is increasingly becoming a major occupational hazard, the cause, management and prevention of this condition have been discussed in this article. PMID:20040980

  20. Tics and Tourette Syndrome

    MedlinePLUS

    ... go, and usually they aren't a severe problem. It is possible for your child to have a tic but not have Tourette syndrome. Talk to your ... go, and usually they aren't a severe problem. It is possible for your child to have a tic but not have Tourette syndrome. Talk to your ...

  1. Autoimmune polyendocrine syndromes.

    PubMed

    Cutolo, Maurizio

    2014-02-01

    Autoimmune polyendocrine syndromes (APS), also called polyglandular autoimmune syndromes (PGAS), are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected. The two major autoimmune polyendocrine syndromes, (type1-type2/APS-1 and APS-2), both have Addison's disease as a prominent component. Further autoimmune polyendocrine syndromes include APS3 and APS4. The major autoimmune polyendocrine syndromes have a strong genetic component with the type 2 syndrome occurring in multiple generations and the type I syndrome in siblings. It is well recognized that more than 20years may elapse between the onset on one endocrinopathy and the diagnosis of the next, for example, almost 40-50% of subjects with Addison's disease will develop an associated endocrinopathy. The discovery of the polyendocrine autoimmune syndromes offered the possibility to understand autoimmune disorders with particular interest for type 1A diabetes and the neuroendocrine immunology (NEI) is further contributing to understand the links. PMID:24055063

  2. Epidemiology of Down Syndrome

    ERIC Educational Resources Information Center

    Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.

    2007-01-01

    Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

  3. Acute Coronary Syndrome

    MedlinePLUS

    ... 2015 So you’ve never heard of an acute coronary syndrome. But what about heart attack , or unstable angina ? Those well-known conditions are ... too many doctors say, ‘You’re having an acute coronary syndrome.’ They say, ‘You’re having a heart attack.’” What are the symptoms? Chest pain or discomfort ...

  4. Cushing's Syndrome in Children

    MedlinePLUS

    Cushing’s Syndrome in Children by Meg Keil, MS, CRNP How is Cushing’s syndrome (CS) in children different than in adults? · CS in children is rare. An estimated ... child or adolescent during this period. Editor’s Note: Meg Keil,MS, CRNP is a nurse practitioner at ...

  5. Irritable bowel syndrome - aftercare

    MedlinePLUS

    Irritable bowel syndrome (IBS) may be a lifelong condition. You may be suffering from cramping and loose stools, ... Ferri FF. Irritable bowel syndrome. In: Ferri FF, ed. Ferri's Clinical Advisor 2015 . Philadelphia, PA: Elsevier Mosby; 2015:pages 669-70. What ...

  6. Irritable bowel syndrome

    MedlinePLUS

    Irritable bowel syndrome (IBS) is a disorder that leads to abdominal pain and bowel changes. IBS is not ... Ferri FF. Irritable bowel syndrome. In: Ferri FF, ed. Ferri's Clinical Advisor 2016 . Philadelphia, PA: Elsevier Mosby; 2015:723-4. Mayer EA. ...

  7. Marshall/Stickler syndrome

    PubMed Central

    Baraitser, Michael

    1982-01-01

    A family originally reported as a variant of Marshall syndrome is re-examined. The clinical picture now encompasses both the Marshall and Stickler syndromes and it is suggested that the distinction between the two should be abandoned. Images PMID:7077624

  8. Macrocytosis in Down Syndrome.

    ERIC Educational Resources Information Center

    Wachtel, Tom J.; Pueschel, Siegfried M.

    1991-01-01

    The study, with 61 Down Syndrome (trisomy 21) adult subjects, found that macrocytosis in the absence of anemia was virtually universal and erythrocyte survival half-time was shorter than normal. Findings suggest that erythrocytes have a younger mean age in persons with Down Syndrome, possibly indicating an accelerated aging process of red blood…

  9. Geriatric Sexuality Breakdown Syndrome.

    ERIC Educational Resources Information Center

    Kaas, Merrie Jean

    1981-01-01

    Focuses on the relationship between social environment and the older individual. By utilizing the Social Breakdown Syndrome a cycle of events is defined by the Geriatric Sexuality Breakdown Syndrome, in which an older individual is initially predisposed to diminished sexual activity to the end point of self-identification as nonsexual. (Author)

  10. Craniosynostosis in Alagille syndrome.

    PubMed

    Kamath, Binita M; Stolle, Catherine; Bason, Lynn; Colliton, Raymond P; Piccoli, David A; Spinner, Nancy B; Krantz, Ian D

    2002-10-01

    Alagille syndrome is a multisystem developmental disorder with primary involvement of the liver, heart, skeleton, eyes and facial structures, and demonstrates highly variable expressivity with respect to all of the involved systems. Alagille syndrome is caused by mutations in the Jagged1 gene. Jagged1 is a ligand in the Notch signaling pathway that has been shown to regulate early cell fate determination. Mutations in Jagged1 have been identified in approximately 80% of patients with Alagille syndrome. We have recently identified two patients with mutation proven Alagille syndrome who also had unilateral coronal craniosynostosis. Both individuals were screened for mutations in fibroblast growth factor receptor 1, 2, 3 and TWIST genes, all associated with various types of craniosynostosis and no mutations were identified. The finding of a conserved form of craniosynostosis in two unrelated patients with Alagille syndrome and mutations in Jagged1 may indicate that Jagged1 plays a role in cranial suture formation. PMID:12244552

  11. Thoracic outlet syndrome.

    PubMed

    Kuhn, John E; Lebus V, George F; Bible, Jesse E

    2015-04-01

    Thoracic outlet syndrome is a well-described disorder caused by thoracic outlet compression of the brachial plexus and/or the subclavian vessels. Neurogenic thoracic outlet syndrome is the most common manifestation, presenting with pain, numbness, tingling, weakness, and vasomotor changes of the upper extremity. Vascular complications of thoracic outlet syndrome are uncommon and include thromboembolic phenomena and swelling. The clinical presentation is highly variable, and no reproducible study exists to confirm the diagnosis; instead, the diagnosis is based on a physician's judgment after a meticulous history and physical examination. Both nonsurgical and surgical treatment methods are available for thoracic outlet syndrome. Whereas nonsurgical management appears to be effective in some persons, surgical treatment has been shown to provide predictable long-term cure rates for carefully selected patients. In addition, physicians who do not regularly treat patients with thoracic outlet syndrome may not have an accurate view of this disorder, its treatment, or the possible success rate of treatment. PMID:25808686

  12. Gorlin-Goltz Syndrome

    PubMed Central

    Mehta, DN; Raval, N; Patadiya, H; Tarsariya, V

    2014-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

  13. The skinache syndrome.

    PubMed Central

    Bassøe, C F

    1995-01-01

    Chronic pain of unknown aetiology, and characterized by cutaneous trigger points, has been coined the skinache syndrome. The treatment of the skinache syndrome was evaluated in 94 patients by two independent methods 2 years after treatment. After one subcutaneous injection of lidocaine 68% of the patients were cured. The pain recurred in 27 patients having suffered for an average of 2 years. Surgical removal of the cutaneous trigger points cured 77% of the latter patients. The odds ratio of success of surgical treatment versus all other treatments combined was 101.3. The skinache syndrome requires a precise clinical investigation. Even when the origin of the pain in tendons, muscle and adipose tissue is excluded, the skinache syndrome remains a common, debilitating disorder. In contrast to fibromyalgia, the skinache syndrome has a simple and effective cure. PMID:8537946

  14. The Source for Syndromes 2.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

  15. Autoimmune polyglandular syndromes.

    PubMed

    Michels, Aaron W; Gottlieb, Peter A

    2010-05-01

    The autoimmune polyglandular syndromes-a group of syndromes comprising a combination of endocrine and nonendocrine autoimmune diseases-differ in their component diseases and in the immunologic features of their pathogenesis. One of the three main syndromes, type 1 autoimmune polyglandular syndrome (APS-1), has a unique pathogenic mechanism owing to mutations in the autoimmune regulator (AIRE) gene, which results in the loss of central tolerance-a process by which developing T cells with potential reactivity for self-antigens are eliminated during early differentiation in the thymus. Patients with IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome harbor mutations in the forkhead box P3 (FOXP3) gene in regulatory T cells, which leads to severe autoimmunity and immune deficiency. Although both of these disorders are rare, their well-defined mechanisms of disease provide a basis for the understanding of the more common condition, APS-2. In this syndrome, alleles of human leukocyte antigens (HLAs) determine the targeting of specific tissues by autoreactive T cells, which leads to organ-specific autoimmunity as a result of this loss of tolerance. Non-HLA genes also contribute to autoimmunity in APS-2 and, depending on the polymorphism, potentially predispose to a loss of tolerance or influence which organ is specifically targeted. This Review discusses the genetic basis of APS-1, APS-2 and IPEX syndrome, with an emphasis on the mechanisms of autoimmunity and presents currently available therapies to treat their underlying autoimmune disorders. PMID:20309000

  16. Vascular compression syndromes.

    PubMed

    Czihal, Michael; Banafsche, Ramin; Hoffmann, Ulrich; Koeppel, Thomas

    2015-11-01

    Dealing with vascular compression syndromes is one of the most challenging tasks in Vascular Medicine practice. This heterogeneous group of disorders is characterised by external compression of primarily healthy arteries and/or veins as well as accompanying nerval structures, carrying the risk of subsequent structural vessel wall and nerve damage. Vascular compression syndromes may severely impair health-related quality of life in affected individuals who are typically young and otherwise healthy. The diagnostic approach has not been standardised for any of the vascular compression syndromes. Moreover, some degree of positional external compression of blood vessels such as the subclavian and popliteal vessels or the celiac trunk can be found in a significant proportion of healthy individuals. This implies important difficulties in differentiating physiological from pathological findings of clinical examination and diagnostic imaging with provocative manoeuvres. The level of evidence on which treatment decisions regarding surgical decompression with or without revascularisation can be relied on is generally poor, mostly coming from retrospective single centre studies. Proper patient selection is critical in order to avoid overtreatment in patients without a clear association between vascular compression and clinical symptoms. With a focus on the thoracic outlet-syndrome, the median arcuate ligament syndrome and the popliteal entrapment syndrome, the present article gives a selective literature review on compression syndromes from an interdisciplinary vascular point of view. PMID:26515219

  17. Personality and metabolic syndrome

    PubMed Central

    Costa, Paul T.; Uda, Manuela; Ferrucci, Luigi; Schlessinger, David; Terracciano, Antonio

    2010-01-01

    The prevalence of metabolic syndrome has paralleled the sharp increase in obesity. Given its tremendous physical, emotional, and financial burden, it is of critical importance to identify who is most at risk and the potential points of intervention. Psychological traits, in addition to physiological and social risk factors, may contribute to metabolic syndrome. The objective of the present research is to test whether personality traits are associated with metabolic syndrome in a large community sample. Participants (N?=?5,662) from Sardinia, Italy, completed a comprehensive personality questionnaire, the NEO-PI-R, and were assessed on all components of metabolic syndrome (waist circumference, triglycerides, high-density lipoprotein cholesterol, blood pressure, and fasting glucose). Logistic regressions were used to predict metabolic syndrome from personality traits, controlling for age, sex, education, and current smoking status. Among adults over age 45 (n?=?2,419), Neuroticism and low Agreeableness were associated with metabolic syndrome, whereas high Conscientiousness was protective. Individuals who scored in the top 10% on Conscientiousness were approximately 40% less likely to have metabolic syndrome (OR?=?0.61, 95% CI?=?0.41–0.92), whereas those who scored in the lowest 10% on Agreeableness were 50% more likely to have it (OR?=?1.53, 95% CI?=?1.09–2.16). At the facet level, traits related to impulsivity and hostility were the most strongly associated with metabolic syndrome. The present research indicates that those with fewer psychological resources are more vulnerable to metabolic syndrome and suggests a psychological component to other established risk factors. PMID:20567927

  18. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

    PubMed

    Titomanlio, Luigi; Bennaceur, Selim; Bremond-Gignac, Dominique; Baumann, Clarisse; Dupuy, Olivier; Verloes, Alain

    2005-09-01

    We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and mental deficiency. The phenotypic findings are compared with the six previously reported Michels cases, and with patients referred to as Carnevale, OSA, and Malpuech syndromes. Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis. Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge-shaped diastasis around the umbilicus. OSA syndrome resembles Carnevale, with humeroradial synostoses, and spinal anomalies as extra features. Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive. Despite the presence of apparently distinctive key features, it appears that these four entities share multiple similarities in the facial Gestalt and the pattern of MCA. Those similarities lead us to postulate that they belong to the same spectrum, which could be referred to as "3MC syndrome" (Malpuech-Michels-Mingarelli-Carnevale syndrome). PMID:16096999

  19. Anton's Syndrome and Eugenics

    PubMed Central

    Frahm-Falkenberg, Siska

    2011-01-01

    Anton's syndrome is arguably the most striking form of anosognosia. Patients with this syndrome behave as if they can see despite their obvious blindness. Although best known for his description of asomatognosia and visual anosognosia, Gabriel Anton (1858-1933) made other significant contributions to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works of Gabriel Anton into their historic context. PMID:21779298

  20. Fibromyalgia syndrome in women.

    PubMed

    Shaver, Joan L

    2004-03-01

    Many more women than men experience the chronically fatiguing condition of fibromyalgia syndrome (FMS), a growing diagnosis in the United States. Estimates are that upwards of 2% to 6% of adults have been diagnosed with FMS, and at high societal costs. In this article, common manifestations are described to guide assessment and various lines of research are explored as a basis for under-standing contributing factors and potential treatments for FMS and other chronic disorders, such as chronic fatigue syndrome (CFS), irritable bowel syndrome (IBS), and temporomandibular disorders (TMD), and the effectiveness of current treatment options. PMID:15062736

  1. Cotard's syndrome: a review.

    PubMed

    Debruyne, Hans; Portzky, Michael; Van den Eynde, Frédérique; Audenaert, Kurt

    2009-06-01

    Cotard's syndrome is a rare disorder in which nihilistic delusions concerning one's own body are the central feature. It is not listed as a specific disorder in the DSM-IV, as it is typically viewed as a part of other underlying disorders. However, it remains important to recognize the syndrome because specific underlying mechanisms are present, and prognostic and therapeutic consequences have to be taken into account. This review presents an up-to-date overview of Cotard's syndrome, which was initially described more than a century ago. PMID:19470281

  2. Ischemic bilateral opercular syndrome.

    PubMed

    Milanlioglu, Aysel; Ayd?n, Mehmet Nuri; Gökgül, Alper; Hamamc?, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel

    2013-01-01

    Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome. PMID:23476665

  3. Syndrome In Question*

    PubMed Central

    Maldonado, Gabriela; Peruzzo, Juliano; Tubone, Mariana Quirino; Reinehr, Clarissa Prieto Herman; Escobar, Gabriela Fortes

    2015-01-01

    The authors describe a case of Cowden´s syndrome in a female patient with classic cutaneous lesions, plus papillomatous lesions in the gastrointestinal tract and a previous history of thyroid carcinoma. Mucocutaneous lesions occur in 90% of Cowden's syndrome cases and are characterized by facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Sites of extracutaneous involvement include: the thyroid, gastrointestinal tract, breast and endometrial tissue. There is risk of malignancies in these organs and they need to be monitored with imaging tests. The early diagnosis of the syndrome by a dermatologist through mucocutaneous lesions enables the investigation and diagnosis of extracutaneous involvement. PMID:25672315

  4. Ischemic Bilateral Opercular Syndrome

    PubMed Central

    Milanlioglu, Aysel; Aydın, Mehmet Nuri; Gökgül, Alper; Hamamcı, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel

    2013-01-01

    Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome. PMID:23476665

  5. [Refeeding syndrome: practical issues].

    PubMed

    Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

    2015-10-14

    The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding. PMID:26665657

  6. Iliotibial band friction syndrome

    PubMed Central

    2010-01-01

    Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for iliotibial band friction syndrome; and (4) the rationale behind these methods and the clinical outcome studies that support their efficacy. PMID:21063495

  7. Shaken baby syndrome.

    PubMed

    Spaide, R F; Swengel, R M; Scharre, D W; Mein, C E

    1990-04-01

    Violent shaking causes severe injury in infants, but the diagnosis of shaken baby syndrome is often difficult to make because of the lack of obvious external signs. Consultations by other specialists may not be helpful, since the findings of most organ systems, taken in isolation, are usually nonspecific. Shaken baby syndrome should be considered in infants presenting with seizures, failure to thrive, vomiting associated with lethargy or drowsiness, hypothermia, bradycardia, hypertension or hypotension, respiratory irregularities, coma or death. Shaken babies are usually less than one year old, and most are under six months of age. Head injury (notably subdural hemorrhage) and retinal hemorrhages are the hallmarks of the syndrome. PMID:2181831

  8. Aflibercept in Treating Patients With Myelodysplastic Syndromes

    ClinicalTrials.gov

    2015-01-07

    Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable; Previously Treated Myelodysplastic Syndromes; Secondary Myelodysplastic Syndromes

  9. Restless Legs Syndrome

    MedlinePLUS

    ... trips, sitting in a movie theater, long-distance flights, immobilization in a cast, or relaxation exercises. Many ... restless legs syndrome diagnosed? There is no specific test for RLS. The four basic criteria for diagnosing ...

  10. Irritable Bowel Syndrome

    MedlinePLUS

    Irritable bowel syndrome (IBS) is a problem that affects the large intestine. It can cause abdominal cramping, bloating, and a change in bowel ... go back and forth between the two. Although IBS can cause a great deal of discomfort, it ...

  11. Congenital nephrotic syndrome

    MedlinePLUS

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  12. Thoracic Outlet Syndrome

    MedlinePLUS

    Thoracic outlet syndrome (TOS) causes pain in the arm, shoulder, and neck. It happens when the nerves or blood vessels just below your ... vein is compressed, your hand might be sensitive to cold, or turn pale or bluish. Your arm ...

  13. Beckwith-Wiedemann syndrome

    MedlinePLUS

    ... associated with a defect in chromosome number 11. Infancy can be a critical period in babies with ... Children with Beckwith-Wiedemann syndrome who survive infancy do ... appears to be normal to very slightly decreased. Swelling of ...

  14. Short Bowel Syndrome

    MedlinePLUS

    ... short bowel syndrome cannot absorb enough water, vitamins, minerals, protein, fat, calories, and other nutrients from food. ... of the small intestine, where iron and other minerals are absorbed jejunum—the middle section of the ...

  15. [Burnout syndrome epidemiology].

    PubMed

    Orbáiz, Villanueva R; Vicente, Albaladejo R; Molina, Ortega P; Rabiza, Astasio P; Purón, Calle M E; Rojas, Dominguez V

    2008-01-01

    The burnout syndrome constitutes a process which bears high prevalence and important consequences among sanitary professionals, particularly among nurses. Therefore, the authors have proposed to study the three dimensions of this syndrome, namely emotional tiredness, depersonalization and lack of a sense of achievement plus the function certain personal, labor, and institutional factors have in development of this process. The authors carried out a transversal study based on a random sample from among all the nursing staff at a Madrid hospital. Two methods to gather information were employed: one questionnaire gathered sociodemographic data, labor and institutional variables while the Maslach Burnout Inventory (MBI), in its verified Spanish version, studied the three burnout syndrome dimensions. The authors made a multiple logistical regression analysis, using as dependent variables the three syndrome scales and adjusting parameters for all the other variables. Clear risk factors were shown; these included unfavorable opinions professionals hold regarding institutional variables; the scale for emotional tiredness warrants special note. PMID:18757013

  16. Lesch-Nyhan syndrome

    MedlinePLUS

    ... motor development followed by abnormal movements and increased reflexes. A striking feature of Lesch-Nyhan syndrome is ... a physical exam. The exam may show: Overexaggerated reflexes Spasticity (having spasms) Blood and urine tests may ...

  17. Dandy-Walker Syndrome

    MedlinePLUS

    ... The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that ... early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of ...

  18. Ehlers-Danlos syndrome

    MedlinePLUS

    ... minor types of Ehlers-Danlos syndrome. A variety of gene changes (mutations) cause problems with collagen. This is the material that provides strength and structure to: Skin Bone Blood vessels Internal ...

  19. Klinefelter Syndrome (For Teens)

    MedlinePLUS

    ... Other Problems What Doctors Do Treatment en español Síndrome de Klinefelter Aidan watched as his friends all ... What Causes It? Klinefelter syndrome isn't passed down through families like some genetic diseases . Instead, it ...

  20. Acute nephritic syndrome

    MedlinePLUS

    ... or other disease. Common causes in children and adolescents include: Hemolytic uremic syndrome Henoch-Schonlein purpura IgA ... of the kidney that filters blood to make urine and remove waste. As a result, blood and ...

  1. Prader-Willi syndrome

    MedlinePLUS

    ... to get food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome. ... Improve physical strength and agility Improve height Increase lean muscle mass and decrease body fat Improve weight ...

  2. Acute Radiation Syndrome

    MedlinePLUS

    ... Planning Information on Specific Types of Emergencies Acute Radiation Syndrome (ARS): A Fact Sheet for the Public ... is called the radiation dose. People exposed to radiation will get ARS only if: The radiation dose ...

  3. Complex Regional Pain Syndrome

    MedlinePLUS

    Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. ... in skin temperature, color, or texture Intense burning pain Extreme skin sensitivity Swelling and stiffness in affected ...

  4. [Budd-Chiari syndrome].

    PubMed

    Plessier, A

    2013-12-01

    The management of the Budd-Chiari syndrome improved dramatically during the last 10 years and includes less invasive diagnostic modalities using modern imaging, identification of a myeloproliferative disorder in 20 to 50% of the patients using the V617F JAK2 mutation, and a graduate therapeutic strategy. The common association of Budd-Chiari syndrome with a thrombotic disorder is a reason for a thorough work-up (myeloproliferative disorder, defect in C or S protein, factor V Leiden, factor II mutation, antiphosholipid syndrome, and other less common disorders). Ultrasonography should to be performed by an experimented examiner, informed of the diagnostic suspicion. The 5-year survival rate of patients with Budd-Chiari syndrome, treated with this contemporary approach (anticoagulation, treatment of the underlying cause, recanalization, transjugular intrahepatic portosystemic shunting, and liver transplantation) is above 80%. PMID:24262409

  5. Shaken Baby Syndrome.

    ERIC Educational Resources Information Center

    Alexander, Randell C.; Smith, Wilbur L.

    1998-01-01

    Discusses the history, epidemiology, biomechanics, diagnosis, treatment, outcomes, long-term management, and prevention of shaken baby syndrome. It presents medical-legal issues as well as a discussion of programs aimed at prevention of physical abuse. (Author/DB)

  6. Cannabinoid hyperemesis syndrome.

    PubMed

    Heise, Lynn

    2015-01-01

    Legalization of marijuana use will increase the number of people who will become long-term users. A prior medical record review study in Australia, in 2004, identified 19 chronic marijuana users who entered the emergency department with recurrent vomiting associated with abdominal pain. Routine treatment of the nausea and vomiting, associated with the chronic marijuana abuse, with antiemetics is ineffective in patients with cannabinoid hyperemesis syndrome. Narcotics do not relieve the abdominal pain but may cause worsening rebound pain. The best treatment of cannabinoid hyperemesis syndrome was found to be abstinence from the recreational use of marijuana. It is important for advanced practice nurses to place cannabinoid hyperemesis syndrome in their differentials of patients presenting to the emergency department with recurrent nausea, vomiting, and abdominal pain. They need to be knowledgeable about cannabinoid hyperemesis syndrome to provide the proper management of care for this specific medical condition. PMID:25929220

  7. Blueberries and Metabolic Syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Metabolic Syndrome is a cluster of metabolic disorders that increase the risk of cardiovascular diseases. Type 2 diabetes, elevated blood pressure, and atherogenic dyslipidemia are among the metabolic alterations that predispose the individual to several adverse cardiovascular complications. The hea...

  8. Milk-alkali syndrome

    MedlinePLUS

    ... the dynamics of calcium homeostasis. Clin J Am Soc Nephrol . 1006;1:641– 654. Grubb M, Gaurav ... Welcome to the calcium-alkali syndrome. J Am Soc Nephrol. 2010;21:1440-1443. Yoshizawa H, Morishita ...

  9. Fetal Alcohol Syndrome

    MedlinePLUS

    ... drink other beverages instead, such as water, fruit juices or milk. Questions to Ask Your Doctor If your baby was born with fetal alcohol syndrome: What health problems does my baby have? Does my baby ...

  10. The Nelson's syndrome... revisited.

    PubMed

    Assié, Guillaume; Bahurel, Hélène; Bertherat, Jérôme; Kujas, Michèle; Legmann, Paul; Bertagna, Xavier

    2004-01-01

    Adrenalectomy is a radical therapeutic approach to control hypercortisolism in some patients with Cushing's disease. However it may be complicated by the Nelson's syndrome, defined by the association of a pituitary macroadenoma and high ACTH secretion after adrenalectomy. This definition has not changed since the end of the fifties. Today the Nelson's syndrome must be revisited with new to criteria using more sensitive diagnostic tools, especially the pituitary magnetic resonance imaging. In this paper we will review the pathophysiological aspects of corticotroph tumor growth, with reference to the impact of adrenalectomy. The main epidemiological data on the Nelson's syndrome will be presented. More importantly, we will propose a new pathophysiological and practical approach to this question which attempts to evaluate the Corticotroph Tumor Progression after adrenalectomy, rather than to diagnose the Nelson's syndrome. We will discuss the consequences for the management of Cushing's disease patients after adrenalectomy, and will also draw some perspectives. PMID:16132203

  11. Gorlin-Goltz syndrome

    PubMed Central

    Joshi, Priya Shirish; Deshmukh, Vijay; Golgire, Someshwar

    2012-01-01

    Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases. PMID:22363371

  12. Fetal alcohol syndrome

    MedlinePLUS

    Alcohol in pregnancy; Alcohol-related birth defects; Fetal alcohol effects; FAS ... varies. Almost none of these babies have normal brain development. Infants and children with fetal alcohol syndrome have many different problems, which can be ...

  13. Ovarian hyperstimulation syndrome

    MedlinePLUS

    ... 3 to 6% of women who go through in vitro fertilization . Other risk factors for OHSS include: Being younger than age 35 Having a very high estrogen level during fertility treatments Having polycystic ovarian syndrome

  14. Cyclic Vomiting Syndrome Association

    MedlinePLUS

    ... Power Point Presentations Grey’s Anatomy, Chandra Wilson Relevant Organizations Research Anxiety Risk in Youth with Cyclic Vomiting Syndrome: Threat Perception, Coping and Physiological Reactivity Participate in Research Studies Article: CVS Research and Treatments Recent Articles Full ...

  15. Obesity hypoventilation syndrome (OHS)

    MedlinePLUS

    Obesity hypoventilation syndrome (OHS) is a condition in some obese people in which poor breathing leads to ... Maintain a healthy weight and avoid obesity. Use your CPAP or BiPAP treatment as your provider prescribed.

  16. Barth Syndrome (BTHS)

    MedlinePLUS

    ... prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but in others it has caused increasing muscle weakness and even precipitated heart failure. Only careful dietary monitoring directed by a physician ...

  17. Ramsay Hunt syndrome

    MedlinePLUS

    ... rash around the ear that occurs when the varicella zoster virus infects a nerve in the head. ... The varicella zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and shingles. In people ...

  18. Marfan syndrome (image)

    MedlinePLUS

    ... exhibit long limbs and spider-like fingers, chest abnormalities, curvature of the spine and a particular set ... of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base ...

  19. Down Syndrome (For Parents)

    MedlinePLUS

    ... KidsHealth in the Classroom What Other Parents Are Reading Zika & Pregnancy: What to Know Signing Kids Up ... self-care skills like feeding, dressing, and toilet teaching. Down syndrome affects kids' ability to learn in ...

  20. Congenital Central Hypoventilation Syndrome

    MedlinePLUS

    ... Families Recursos en Español Teaching Resources Medical and Science Glossaries More Quick Links Evaluating Health Information Financial ... Links About the National Center for Advancing Translational Sciences (NCATS) GARD Home Diseases Congenital central hypoventilation syndrome ...

  1. Klippel-Trenaunay syndrome

    MedlinePLUS

    ... at birth. The syndrome usually involves port wine stains , excess growth of bones and soft tissue, and ... Many port wine stains or other blood vessel problems, including dark spots on the skin. Varicose veins (may be seen in early infancy, ...

  2. Narcotic Bowel Syndrome

    MedlinePLUS

    ... DDW) where they report the results of their detoxification of 30 patients who had narcotic bowel syndrome. ... other bodily pains at the end of the detoxification. However about 50% of these patients were back ...

  3. Carpal Tunnel Syndrome

    MedlinePLUS

    ... manufacturing, sewing, finishing, cleaning, and meat, poultry, or fish packing. In fact, carpal tunnel syndrome is three ... been caused by strenuous activity. Orally administered diuretics ("water pills") can decrease swelling. Corticosteroids (such as prednisone) ...

  4. Fragile X syndrome

    MedlinePLUS

    Behavior problems associated with fragile X syndrome include: Autism spectrum disorder Delay in crawling, walking, or twisting Hand clapping or hand biting Hyperactive or impulsive behavior Intellectual disability Speech and language delay Tendency to ...

  5. Chinese restaurant syndrome

    MedlinePLUS

    Hot dog headache; Glutamate-induced asthma; MSG (monosodium glutamate) syndrome ... Symptoms include: Chest pain Flushing Headache Numbness or burning in or around the mouth Sense of facial pressure or swelling Sweating

  6. Turner Syndrome (For Teens)

    MedlinePLUS

    ... that affects about 1 in every 2,500 girls. Although researchers don't know exactly what causes ... it's the result of a problem with a girl's chromosomes . Girls with Turner syndrome are usually short ...

  7. Congenital Neutropenia Syndromes

    MedlinePLUS

    ... group of disorders characterized by low levels of neutrophils— white blood cells necessary for combating infections—from ... Infantile genetic agranulocytosis Kostmann's syndrome or disease Watch neutrophils move towards a Leishmania infection caused by a ...

  8. Guillain-Barré Syndrome

    MedlinePLUS

    ... lives and activities. What Is Guillain-Barré Syndrome? Experts believe that GBS is an autoimmune disorder . These happen when the immune system , which usually protects us by attacking any invading ...

  9. Irritable Bowel Syndrome

    MedlinePLUS

    ... an antibiotic. Your doctor may also recommend a probiotic or fiber supplement. Will IBS get worse over ... Questions to Ask Your Doctor What is a food diary and ... Disorders (IFFGD) Irritable Bowel Syndrome Self Help ...

  10. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and bones ... from irritated tendons or other swelling narrows the tunnel and causes the nerve to be compressed. Symptoms ...

  11. Marine-Lenhart syndrome.

    PubMed Central

    Cakir, Mehtap

    2005-01-01

    Graves' disease and toxic nodular goiter both cause thyrotoxicosis by different pathophysiological mechanisms. Cases with both etiologies have the diagnosis of Marine-Lenhart syndrome. Such a case is presented in this paper. Images Figure 1 Figure 2 PMID:16080676

  12. Klippel-Feil Syndrome

    MedlinePLUS

    ... Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful. What is ...

  13. Frey's syndrome: case report.

    PubMed

    Haker, Jacqueline M; Mandel, Louis

    2012-01-01

    Frey's syndrome is characterized by facial sweating and flushing in the parotid area when saliva is stimulated. It usually results from damage to the auriculotemporal nerve during parotidectomy. PMID:23252196

  14. Loeys-Dietz Syndrome

    MedlinePLUS

    ... syndrome is a genetic disorder of the body’s connective tissue. It has some features in common with Marfan ... a mutation, growth and development of the body’s connective tissue and other body systems is disrupted, leading to ...

  15. Shah-Waardenburg syndrome.

    PubMed

    Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah

    2013-01-01

    Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities. PMID:23565307

  16. Sweet Syndrome in childhood.

    PubMed

    dos Santos, Talita Batalha Pires; Sales, Barbara Cristina Gouveia; Sigres, Marianne; Rosman, Fernando; de Cerqueira, Ana Maria Mosca

    2015-01-01

    Sweet syndrome or acute febrile neutrophilic dermatosis is a recurrent and rare skin disease caused by the release of cytokines, with diverse possible etiologic causes. It presents clinically with polymorphic skin lesions, fever, arthralgia, and peripheral leukocytosis. In general, it is associated with infections, malignancy and drugs. It usually regresses spontaneously and treatment is primarily to control the basic disease. The authors report the case of a child of 1 year and 11 months who developed Sweet syndrome. PMID:26375229

  17. Syndrome in question*

    PubMed Central

    Dalapicola, Monique Coelho; Veasey, John Verrinder; Lellis, Rute Facchini

    2016-01-01

    Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years.

  18. Hypokalemia syndrome in cattle.

    PubMed

    Sattler, Nicolas; Fecteau, Gilles

    2014-07-01

    This article describes hypokalemia syndrome. Lactating dairy cows seem to be at the highest risk, but younger animals may also develop the disease. At present, except for animals treated with repeated isoflupredone acetate administration, the exact determinants causing hypokalemia syndrome remain uncertain. Affected animals are anorexic, weak to recumbent, and most often show signs of gastrointestinal stasis. Treatment is directed toward supportive care and oral potassium supplementation. PMID:24980726

  19. Sweet Syndrome in childhood*

    PubMed Central

    dos Santos, Talita Batalha Pires; Sales, Barbara Cristina Gouveia; Sigres, Marianne; Rosman, Fernando; de Cerqueira, Ana Maria Mosca

    2015-01-01

    Sweet syndrome or acute febrile neutrophilic dermatosis is a recurrent and rare skin disease caused by the release of cytokines, with diverse possible etiologic causes. It presents clinically with polymorphic skin lesions, fever, arthralgia, and peripheral leukocytosis. In general, it is associated with infections, malignancy and drugs. It usually regresses spontaneously and treatment is primarily to control the basic disease. The authors report the case of a child of 1 year and 11 months who developed Sweet syndrome. PMID:26375229

  20. Bent spine syndrome.

    PubMed Central

    Serratrice, G; Pouget, J; Pellissier, J F

    1996-01-01

    Eight elderly patients developed progressive paravertebral muscle weakness with bent spine on standing but normal supine posture. Computed tomography showed pronounced hypodensity of the paraspinal muscles. Serum creatine kinase was moderately increased, paraspinal EMG non-specific, and biopsy myopathic. The syndrome was familial in two patients and may be caused by a late onset paraspinal muscle dystrophy. In the absence of specific pathological changes, such cases could be classified as having "bent spine syndrome". Images PMID:8558151

  1. Temperament in Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Antshel, K. M.; Stallone, K.; AbdulSabur, N.; Shprintzen, R.; Roizen, N.; Higgins, A. M.; Kates, W. R.

    2007-01-01

    Background: Velocardiofacial syndrome (VCFS) is a microdeletion syndrome caused by a 22q11.2 chromosomal deletion. Methods: In this study, parents reported on their own temperament as well as the temperament of their child. Sixty-seven children with VCFS (mean age = 10.8, SD = 2.8; range 6-15), and age-, race- and gender-ratio matched samples of…

  2. Gorlin-Goltz syndrome

    PubMed Central

    Kohli, Munish; Kohli, Monica; Sharma, Naresh; Siddiqui, Saif Rauf; Tulsi, S.P.S.

    2010-01-01

    Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region. PMID:22442551

  3. Jaffe-Campanacci syndrome.

    PubMed

    Steinmetz, J C; Pilon, V A; Lee, J K

    1988-01-01

    The case of a 15-year-old white boy with a clinical diagnosis of von Recklinghausen neurofibromatosis and a history of multiple fractures of long bones is presented. Radiographic studies and tissue biopsy revealed the presence of multiple nonossifying fibromas of bone. Review of the clinical features and correlation with the pathologic data support a diagnosis of Jaffe-Campanacci syndrome, a malformation syndrome different from but possibly related to von Recklinghausen neurofibromatosis. PMID:3139710

  4. Hoarseness revealing Ortner's syndrome.

    PubMed

    Verbeke, X; Vliebergh, J; Sauer, M; Leys, M

    2015-06-01

    Hoarseness is a common phenomenon that can be caused by uncommon pathology. One seldom cause is Ortner's syndrome, a rare cardiovocal disease that can lead to hoarseness due to left recurrent laryngeal nerve palsy induced by mechanical compression of the nerve by cardiovascular structures. This case report describes a case of a 41-year-old woman with sudden onset of hoarseness. The patient had known pulmonary hypertension and Eisenmenger's syndrome. PMID:26103539

  5. Infections in myelodysplastic syndromes

    PubMed Central

    Toma, Andréa; Fenaux, Pierre; Dreyfus, François; Cordonnier, Catherine

    2012-01-01

    Myelodysplastic syndromes are associated with a risk of severe infections. While neutropenia is likely to be the main predisposing factor, several other immune defects have been reported, including impaired neutrophil function, B-, T- and NK-cell defects and the possible consequences of iron overload due to red blood cell transfusions. The advanced age of most patients, their frequent comorbidities, and the fact that drugs such as hypomethylating agents and lenalidomide, which are effective in myelodysplastic syndromes but can transiently worsen neutropenia, may increase the risk of infection and their severity in this context. The majority of infections in myelodysplastic syndromes are bacterial, while the incidence of fungal infections is not well known and viral infections seem to be rare. No prophylactic measures against infections have demonstrated efficacy in myelodysplastic syndromes. However, pending more data, we propose here some recommendations for the management of patients with myelodysplastic syndromes. In the future, an important contribution can be made by prospective trials testing the efficacy of prophylactic and therapeutic approaches to infection in these patients, especially in the context of the new drugs available for myelodysplastic syndromes. PMID:22733024

  6. Muir-Torre Syndrome

    PubMed Central

    Feser, Christina; Grekin, Steven

    2016-01-01

    Muir-Torre syndrome is a rare, autosomal dominant genodermatosis characterized by the presence of at least one sebaceous gland neoplasm, associated with an underlying visceral malignancy. Muir-Torre syndrome is believed to be a subtype of Lynch Syndrome. Affected individuals are found to have germline mutations predominantly in DNA mismatch repair gene MSH2, and much less frequently, MLH1. The authors report the case of a 55-year-old woman presenting with multiple cutaneous neoplasms including sebaceoma, basal cell carcinoma, and squamous cell carcinoma; personal history of colorectal and endometrial cancer; and family history of colorectal cancer; found to have a deletion at mismatch repair gene MLH1. It is important to recognize the role of these less common gene deletions in producing the Muir-Torre syndrome phenotype, and consider the correlation of cutaneous manifestations with internal disease. The authors discuss the clinical presentation of Muir-Torre syndrome, methods of diagnosis, and the importance of regular medical surveillance to detect and prevent disease progression in Muir-Torre syndrome patients and their family members.

  7. Marfan's syndrome: an overview.

    PubMed

    Yuan, Shi-Min; Jing, Hua

    2010-12-01

    Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include prophylactic ?-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta, and prophylactic aortic surgery. Importantly, ?-blocker therapy may reduce TGF-? activation, which has been recognized as a contributory factor in Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder. PMID:21308160

  8. Neurocutaneous vascular syndromes.

    PubMed

    Puttgen, Katherine B; Lin, Doris D M

    2010-10-01

    There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new genetic mutations such as RASA-1. There have also been advances in the understanding and management of Sturge-Weber syndrome.PHACE syndrome is a constellation of neurologic, arterial, cardiac, ophthalmologic, and sternal abnormalities associated with infantile hemangiomas. PHACE is an acronym for Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of the aorta, Eye abnormalities. Some authors include an "S" for PHACE(S) to denote the association of ventral defects including Sternal clefting and Supraumbilical raphe.The accurate diagnosis and work-up of these patients require coordination of care across multiple disciplines, including neuroradiology, radiology, dermatology, neurology, surgery, and interventional radiology, among others.This paper is meant to update clinicians and researchers about important advances in these rare, important vascular syndromes, to improve care, and lay the foundation for future directions for research. PMID:20582592

  9. Genetics Home Reference: Donnai-Barrow syndrome

    MedlinePLUS

    ... the left and right halves of the brain (corpus callosum) is underdeveloped or absent. Affected individuals may also ... syndrome? DBS DBS/FOAR syndrome diaphragmatic hernia-exomphalos-corpus callosum agenesis Diaphragmatic hernia-exomphalos-hypertelorism syndrome faciooculoacousticorenal syndrome ...

  10. Genetics Home Reference: Holt-Oram syndrome

    MedlinePLUS

    ... appears to be important for the process that divides the developing heart into four chambers (cardiac septation). ... use for Holt-Oram syndrome? atriodigital dysplasia atrio-digital syndrome cardiac-limb syndrome heart-hand syndrome, type ...

  11. Learning about Cri du Chat Syndrome

    MedlinePLUS

    ... chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that ... du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial ...

  12. Fragile X Syndrome (FXS): Associated Disorders

    MedlinePLUS

    ... associated tremor/ataxia syndrome Fragile X Syndrome (Full Mutation) Fragile X syndrome (FXS) is the most common ... Fragile X syndrome often results from a full mutation of the FMR1 gene. Learn more about FXS » ...

  13. Marfan syndrome: An eyesight of syndrome.

    PubMed

    Kumar, Ashok; Agarwal, Sarita

    2014-12-01

    Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1). Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic ?-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, ?-blocker therapy may reduce TGF-? activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder. PMID:25606393

  14. Plant defense syndromes.

    PubMed

    Agrawal, Anurag A; Fishbein, Mark

    2006-07-01

    Given that a plant's defensive strategy against herbivory is never likely to be a single trait, we develop the concept of plant defense syndromes, where association with specific ecological interactions can result in convergence on suites of covarying defensive traits. Defense syndromes can be studied within communities of diverse plant species as well as within clades of closely related species. In either case, theory predicts that plant defense traits can consistently covary across species, due to shared evolutionary ancestry or due to adaptive convergence. We examined potential defense syndromes in 24 species of milkweeds (Asclepias spp.) in a field experiment. Employing phylogenetically independent contrasts, we found few correlations between seven defensive traits, no bivariate trade-offs, and notable positive correlations between trichome density and latex production, and between C:N ratio and leaf toughness. We then used a hierarchical cluster analysis to produce a phenogram of defense trait similarity among the 24 species. This analysis revealed three distinct clusters of species. The defense syndromes of these species clusters are associated with either low nutritional quality or a balance of higher nutritional quality coupled with physical or chemical defenses. The phenogram based on defense traits was not congruent, however, with a molecular phylogeny of the group, suggesting convergence on defense syndromes. Finally, we examined the performance of monarch butterfly caterpillars on the 24 milkweed species in the field; monarch growth and survival did not differ on plants in the three syndromes, although multiple regression revealed that leaf trichomes and toughness significantly reduced caterpillar growth. The discovery of convergent plant defense syndromes can be used as a framework to ask questions about how abiotic environments, communities of herbivores, and biogeography are associated with particular defense strategies of plants. PMID:16922309

  15. Nijmegen breakage syndrome (NBS).

    PubMed

    Chrzanowska, Krystyna H; Gregorek, Hanna; Dembowska-Bagi?ska, Bo?enna; Kalina, Maria A; Digweed, Martin

    2012-01-01

    Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndrome are: microcephaly, present at birth and progressive with age, dysmorphic facial features, mild growth retardation, mild-to-moderate intellectual disability, and, in females, hypergonadotropic hypogonadism. Combined cellular and humoral immunodeficiency with recurrent sinopulmonary infections, a strong predisposition to develop malignancies (predominantly of lymphoid origin) and radiosensitivity are other integral manifestations of the syndrome. The NBN gene codes for nibrin which, as part of a DNA repair complex, plays a critical nuclear role wherever double-stranded DNA ends occur, either physiologically or as a result of mutagenic exposure. Laboratory findings include: (1) spontaneous chromosomal breakage in peripheral T lymphocytes with rearrangements preferentially involving chromosomes 7 and 14, (2) sensitivity to ionizing radiation or radiomimetics as demonstrated in vitro by cytogenetic methods or by colony survival assay, (3) radioresistant DNA synthesis, (4) biallelic hypomorphic mutations in the NBN gene, and (5) absence of full-length nibrin protein. Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). In fact, NBS was most commonly confused with Fanconi anaemia and LIG4 syndrome. Genetic counselling should inform parents of an affected child of the 25% risk for further children to be affected. Prenatal molecular genetic diagnosis is possible if disease-causing mutations in both alleles of the NBN gene are known. No specific therapy is available for NBS, however, hematopoietic stem cell transplantation may be one option for some patients. Prognosis is generally poor due to the extremely high rate of malignancies. PMID:22373003

  16. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    PubMed Central

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic therapy and topical chemotherapy. Radiotherapy should be avoided. Vitamin A analogs may play a preventive role against development of new BCCs. Life expectancy in NBCCS is not significantly altered but morbidity from complications can be substantial. Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered. Patients with NBCCS should strictly avoid an excessive sun exposure. PMID:19032739

  17. Syndromic diarrhea/Tricho-hepato-enteric syndrome

    PubMed Central

    2013-01-01

    Abstract Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. The aetiology is a defect in TTC37, a TPR containing protein, or in the RNA helicase SKIV2L, both constituting the putative human ski complex. The ski complex is a heterotetrameric cofactor of the cytoplasmic RNA exosome which ensures aberrants mRNAs decay. The diagnosis SD/THE is initially based on clinical findings and confirmed by direct sequencing of TTC37 and SKIV2L. Differential diagnosis with the other causes of intractable diarrhea is easily performed by pathologic investigations. During their clinical course, most of the children require parenteral nutrition and often immunoglobulin supplementation. With time, some of them can be weaned off parenteral nutrition and immunoglobulin supplementation. The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. Mild mental retardation is observed in half of the cases. Abstract in French Les diarrhées syndromiques ou syndrome tricho-hepato-enterique (SD/THE) sont un syndrome rare et sévère dont l’incidence est estimée à 1 cas pour 1 million de naissances et la transmission autosomique récessive. La forme typique associe 5 signes cliniques: une diarrhée grave rebelle nécessitant dans la majorité des cas une nutrition parentérale du fait de la malnutrition, une dysmorphie avec un front large et bombé, une racine du nez large et un hypertélorisme, des anomalies des cheveux qui sont fragiles, cassants, incoiffables et qualifiés de « laineux », un retard de croissance intra utérine et des anomalies de l’immunité à type de déficit en immunoglobuline ou d’absence de réponse aux antigènes vaccinaux. Des anomalies de deux protéines peuvent être à l’origine du syndrome SD/THE: TTC37, une protéine à motif TPR et SKIV2L, une hélicase à ARN, toutes 2 étant des constituants du complexe SKI humain. Le complexe SKI est un co-facteur de l’exosome cytoplasmique qui assure la dégradation des ARN aberrants ou exogènes. Le diagnostic est d’abord clinique puis confirmé par le séquençage des gènes TTC37 et SKIV2L. Le diagnostic différentiel avec les autres formes de diarrhées intraitables est fait grâce aux analyses anatomopathologiques qui montrent dans les autres formes, des lésions spécifiques. La prise en charge clinique repose sur la nutrition parentérale et la supplémentation en immunoglobuline si nécessaire. Un certain nombre d’enfants peuvent être sevrés de la nutrition parentérale et des supplémentations en immunoglobulines. En cas d’atteinte hépatique, celle-ci peut être sévère et conduire au décès. Même avec une prise en charge optimale, les enfants présentent une petite taille et, dans la moitié des cas, un retard mental modéré. Disease name/synonyms – Syndromic diarrhea – Phenotypic diarrhea – Tricho-hepato-enteric syndrome – Intractable diarrhea of infancy with facial dysmorphism &#x

  18. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  19. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  20. Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome.

    PubMed

    Graham, John M; Rosner, Beth; Dykens, Elisabeth; Visootsak, Jeannie

    2005-03-15

    CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), characteristic ear abnormalities, deafness with hypoplasia of the cochlea and semicircular canals, genital hypoplasia, and variable heart defects, orofacial clefting, tracheo-esophageal fistula, renal anomalies, thymic/parathyroid hypoplasia, spine anomalies, short broad neck with sloping shoulders, and characteristic facial features. We conducted behavioral and personality assessments in 14 boys with HHS syndrome aged 6-21 years, and compared their characteristics with similar data from 20 age-matched boys with Down syndrome (DS), 17 boys with Prader-Willi syndrome (PWS), and 16 boys with Williams syndrome (WS). We used the Reiss Profile of Fundamental Goals and Motivation Sensitivities, the Achenbach Child Behavior Checklist (CBCL), and the Aberrant Behavior Checklist (ABC). All 14 boys with HHS were legally deaf, and 10 of the 14 were also legally blind. In comparison these other syndromes, boys with HHS had behavior that resembled autistic spectrum disorder. They were socially withdrawn, lacked interest in social contact, and manifested reduced seeking of attention from others, with hyperactivity and a need to maintain order. Though the boys with HHS showed decreased social interaction, they were not as socially impaired as in classic autism. Their language was delayed due to dual sensory impairment, cranial nerve deficits, and chronic medical problems, but their language style was not abnormal (no echolalia or jargon, no scripted phrases, and no pronoun reversal). Boys with HSS appeared frustrated, but they were not aggressive, or at risk for delinquency, manifesting few stereotypic behaviors or unusual preoccupations. They did not have a restricted repertoire of activities and interests. Their behavioral features appeared to be due to dual sensory impairment affecting hearing and vision, rather than to primary autistic spectrum disorder, but successful remediation requires similar educational interventions, which are discussed herein. PMID:15637708

  1. Management of Neuroacanthocytosis Syndromes

    PubMed Central

    Walker, Ruth H.

    2015-01-01

    Background The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. These disorders are symptomatically managed on a case-by-case basis, with very few practitioners seeing more than a single case in their careers. Methods A literature search was performed on PubMed utilizing the terms neuroacanthocytosis, chorea-acanthocytosis, and McLeod syndrome, and articles were reviewed for mentions of therapies, successful or otherwise. Results There have been no blinded, controlled trials and only one retrospective case series describing ChAc. The various therapies that have been used in patients with NA syndromes are summarized. Discussion Management remains at present purely symptomatic, which is similar in principle to other more common basal ganglia neurodegenerative disorders such as Huntington’s disease (HD) and Parkinson’s disease (PD). However, there are some specific issues particular to NA syndromes that merit attention. An integrated multidisciplinary approach is the ideal management strategy for these complex and multifaceted neurodegenerative disorders. PMID:26504667

  2. Superior mesenteric artery syndrome.

    PubMed

    Gebhart, Timothy

    2015-01-01

    Superior mesenteric artery (SMA) syndrome is an uncommon and potentially fatal cause of small bowel obstruction where the third portion of the duodenum is compressed between the abdominal aorta and the superior mesenteric artery. This is most frequently seen after sudden and significant weight loss, but other etiologies can also cause this duodenal compression. This syndrome can lead to food aversion, poor intake, and weight loss that exacerbate symptoms in a vicious cycle. SMA syndrome is often a diagnosis of exclusion due to nonspecific symptoms, including abdominal pain and distention, feelings of fullness after meals, and bilious emesis. Diagnosis may be assisted with radiography, tomography, endoscopy, and ultrasound imaging. Once SMA syndrome is identified, treatment is directed toward symptom management and nutritional support. If conservative measures fail, symptoms are severe, or the duodenum is compromised, several effective surgical procedures are routinely considered. This article provides an overview of SMA syndrome including history, pathophysiology, signs and symptoms, diagnostic testing, medical and surgical treatment, and implications for nursing staff. PMID:26035775

  3. Tourette's syndrome: update.

    PubMed Central

    Freeman, R D; Connolly, J E; Baird, P A

    1984-01-01

    Tourette's syndrome is a widely misunderstood chronic disorder that develops in childhood and is usually lifelong. It is characterized by waxing and waning of involuntary motor and phonic tics. The features and differential diagnosis are discussed in this paper. The estimated prevalence rate of Tourette's syndrome, 0.05%, implies that this disorder is not rare. The reasons for diagnostic confusion are outlined, and the genetic and neurotransmitter features discussed. The management of Tourette's syndrome has become more effective with the availability of at least two psychoactive drugs, haloperidol and pimozide. Although the cause of this syndrome is thought to be organic, these drugs and their adverse effects are best known to psychiatrists. Psychiatric and multidisciplinary intervention is often necessary because of the frequent association of psychosocial problems, cognitive and learning difficulties, and aggravation of the symptoms by stress. The understanding of Tourette's syndrome will probably increase significantly with the advent of the newer imaging techniques and the rapid progress of research in the neurosciences. PMID:6587930

  4. THE HEPATOPULMONARY SYNDROME

    PubMed Central

    NACIF, Lucas Souto; ANDRAUS, Wellington; PINHEIRO, Rafael Soares; DUCATTI, Liliana; HADDAD, Luciana BP; D'ALBUQUERQUE, Luiz Carneiro

    2014-01-01

    Introduction The hepatopulmonary syndrome has been acknowledged as an important vascular complication in lungs developing systemic hypoxemia in patients with cirrhosis and portal hypertension. Is formed by arterial oxygenation abnormalities induced from intrapulmonary vascular dilatations with liver disease. It is present in 4-32% of patients with cirrhosis. It increases mortality in the setting of cirrhosis and may influence the frequency and severity. Initially the hypoxemia responds to low-flow supplemental oxygen, but over time, the need for oxygen supplementation is necessary. The liver transplantation is the only effective therapeutic option for its resolution. Aim To update clinical manifestation, diagnosis and treatment of this entity. Method A literature review was performed on management of hepatopulmonary syndrome. The electronic search was held of the Medline-PubMed, in English crossing the headings "hepatopulmonary syndrome", "liver transplantation" and "surgery". The search was completed in September 2013. Results Hepatopulmonary syndrome is classically defined by a widened alveolar-arterial oxygen gradient (AaPO2) on room air (>15 mmHg, or >20 mmHg in patients >64 years of age) with or without hypoxemia resulting from intrapulmonary vasodilatation in the presence of hepatic dysfunction or portal hypertension. Clinical manifestation, diagnosis, classification, treatments and outcomes are varied. Conclusion The severity of hepatopulmonary syndrome is an important survival predictor and determine the improvement, the time and risks for liver transplantation. The liver transplantation still remains the only effective therapeutic. PMID:25004294

  5. Sturge-Weber syndrome.

    PubMed

    Comi, Anne M

    2015-01-01

    Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine birthmark) with later diagnosis of abnormal vasculature in the eye and the brain which result in a range of complications. The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ. When a newborn presents with a facial port-wine birthmark on the upper face, that child has a 15-50% risk of developing Sturge-Weber syndrome brain and/or eye involvement, depending on the extent of the birthmark, and close monitoring and appropriate screening is essential for early diagnosis and optimal treatment. Treatment options include laser therapy for lightening of the birthmark, eye drops and surgery for glaucoma management, and aggressive anticonvulsant treatment, low dose aspirin, and neurosurgery where necessary. Future possible treatments based upon new knowledge of the somatic mutation and downstream pathways are currently being considered and studied. PMID:26564078

  6. Carpal Tunnel Syndrome

    PubMed Central

    Zimmerman, Gregory R.

    1994-01-01

    Carpal tunnel syndrome is a neuropathy resulting from compression of the median nerve as it passes through a narrow tunnel in the wrist on its way to the hand. The lack of precise objective and clinical tests, along with symptoms that are synonymous with other syndromes in the upper extremity, cause carpal tunnel syndrome to appear to be a rare entity in athletics. However, it should not be ruled out as a possible etiology of upper extremity paralysis in the athlete. More typically, carpal tunnel syndrome is the most common peripheral entrapment neuropathy encountered in industry. Treatment may include rest and/or splinting of the involved wrist, ice application, galvanic stimulation, or iontophoresis to reduce inflammation, and then transition to heat modalities and therapeutic exercises for developing flexibility, strength, and endurance. In addition, an ergonomic assessment should be conducted, resulting in modifications to accommodate the carpal tunnel syndrome patient. ImagesFig 3.Fig 4.Fig 5.Fig 6.Fig 7. PMID:16558255

  7. Irregular sleep-wake syndrome

    MedlinePLUS

    Sleep-wake syndrome - irregular ... routine during the day. The amount of total sleep time is normal, but the body clock loses ... have a different condition, such as shift work sleep disorder or jet lag syndrome.

  8. Genetics Home Reference: Genitopatellar syndrome

    MedlinePLUS

    ... right halves of the brain (agenesis of the corpus callosum). People with genitopatellar syndrome may have distinctive facial ... genitopatellar syndrome? agenesis ; autosomal ; autosomal dominant ; cell ; clubfoot ; corpus callosum ; cryptorchidism ; disability ; DNA ; enzyme ; gene ; histone ; hypoplasia ; hypotonia ; ...

  9. Genetics Home Reference: Emanuel syndrome

    MedlinePLUS

    ... this condition have been reported. What are the genetic changes related to Emanuel syndrome? Emanuel syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  10. Genetic Features of Turner Syndrome

    MedlinePLUS

    ... Current Studies Publications Lab Staff Contact Info Links Genetic Features Quick Navigation Introduction X-monosomy X-mosaicism ... Figure 3. X Chromosome Abnormalities Figure 4. Mosaicism Genetic Features of Turner Syndrome Turner syndrome is a ...

  11. Syndromic Disorders with Short Stature

    PubMed Central

    ??klar, Zeynep; Berbero?lu, Merih

    2014-01-01

    Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303

  12. Genetics Home Reference: Mabry syndrome

    MedlinePLUS

    ... are the most frequent cause of Mabry syndrome, accounting for approximately half of all cases. Mutations in ... Where can I find information about diagnosis or management of Mabry syndrome? These resources address the diagnosis ...

  13. Genetics Home Reference: Sotos syndrome

    MedlinePLUS

    ... gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. Other ... Where can I find information about diagnosis or management of Sotos syndrome? These resources address the diagnosis ...

  14. Gilles de la Tourette syndrome

    MedlinePLUS

    Gilles de la Tourette syndrome is a condition that causes a person to make repeated, quick movements or sounds that they ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. ...

  15. Genetics Home Reference: Majeed syndrome

    MedlinePLUS

    ... inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). This condition causes recurrent episodes of pain ... Syndrome Genetic Testing Registry: Majeed syndrome MedlinePlus Encyclopedia: Osteomyelitis MedlinePlus Encyclopedia: Psoriasis You might also find information ...

  16. Genetics Home Reference: Cohen syndrome

    MedlinePLUS

    ... small head size (microcephaly), and weak muscle tone (hypotonia). Other features include progressive nearsightedness (myopia), degeneration of ... Syndrome Genetic Testing Registry: Cohen syndrome MedlinePlus Encyclopedia: Hypotonia You might also find information on the diagnosis ...

  17. Treatment Option Overview (Myelodysplastic Syndromes)

    MedlinePLUS

    ... myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. Patients with a myelodysplastic syndrome who have ... in patients with acute myeloid leukemia. Chemotherapy with stem cell transplant Stem cell transplant is a method of ...

  18. Treatment Options for Myelodysplastic Syndromes

    MedlinePLUS

    ... myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. Patients with a myelodysplastic syndrome who have ... in patients with acute myeloid leukemia. Chemotherapy with stem cell transplant Stem cell transplant is a method of ...

  19. General Information about Myelodysplastic Syndromes

    MedlinePLUS

    ... myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. Patients with a myelodysplastic syndrome who have ... in patients with acute myeloid leukemia. Chemotherapy with stem cell transplant Stem cell transplant is a method of ...

  20. Osler-Weber-Rendu syndrome

    MedlinePLUS

    Osler-Weber-Rendu syndrome is a disorder of the blood vessels that can cause excessive bleeding. ... Osler-Weber-Rendu syndrome is inherited, which means it is passed down through families. Scientists have identified 4 genes ...

  1. Genetics Home Reference: Kabuki syndrome

    MedlinePLUS

    ... inheritance is that fathers cannot pass X-linked traits to their sons. Most cases of Kabuki syndrome ... care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with ...

  2. Genetics Home Reference: Majeed syndrome

    MedlinePLUS

    ... syndrome have had an inflammatory skin disorder called psoriasis. Where can I find information about diagnosis or ... Registry: Majeed syndrome MedlinePlus Encyclopedia: Osteomyelitis MedlinePlus Encyclopedia: Psoriasis You might also find information on the diagnosis ...

  3. Genetics Home Reference: Stormorken syndrome

    MedlinePLUS

    ... Patient support For patients and families Genetic Testing Registry Genetic testing PubMed Recent literature OMIM Genetic disorder ... syndrome and may include treatment providers. Genetic Testing Registry: Stormorken syndrome You might also find information on ...

  4. Wolff-Parkinson-White syndrome

    MedlinePLUS

    Wolff-Parkinson-White syndrome is a condition in which there is an extra electrical pathway of the heart. The ... to periods of rapid heart rate ( tachycardia ). Wolff-Parkinson-White syndrome is one of the most common ...

  5. Genetics Home Reference: Barth syndrome

    MedlinePLUS

    ... pump blood. Individuals with Barth syndrome may have elastic fibers in place of muscle fibers in some ... Barth syndrome? aciduria ; bacteria ; cardiomyopathy ; cell ; chromosome ; dilated ; elastic ; gene ; heart failure ; hypotonia ; inborn errors of metabolism ; ...

  6. Genetics Home Reference: Fraser syndrome

    MedlinePLUS

    ... FRAS1 gene mutations are the most common cause, accounting for about half of cases of Fraser syndrome. ... Where can I find information about diagnosis or management of Fraser syndrome? These resources address the diagnosis ...

  7. Genetics Home Reference: Larsen syndrome

    MedlinePLUS

    ... with Larsen syndrome can survive into adulthood and intelligence is unaffected. How common is Larsen syndrome? Larsen ... of autosomal recessive inheritance may actually result from multiple siblings in a family each inheriting a single ...

  8. Genetics Home Reference: Maffucci syndrome

    MedlinePLUS

    ... Maffucci syndrome usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment ... hemangiomata hemangiomata with dyschondroplasia hemangiomatosis chondrodystrophica Kast syndrome multiple angiomas and endochondromas For more information about naming ...

  9. Down Syndrome and Alzheimer's Disease

    MedlinePLUS

    ... chapter Join our online community Down Syndrome and Alzheimer's Disease As they age, those affected by Down syndrome ... either the same as or very similar to Alzheimer's disease. About Symptoms Diagnosis Causes & risks Treatments About Down ...

  10. Syndromic disorders with short stature.

    PubMed

    ??klar, Zeynep; Berbero?lu, Merih

    2014-01-01

    Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303

  11. Genetics Home Reference: Asperger syndrome

    MedlinePLUS

    ... syndrome? Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized ... the mild, or "high-functioning," end of the autism spectrum. Many affected individuals learn to compensate for ...

  12. Genetics Home Reference: Lowe syndrome

    MedlinePLUS

    ... and Families Resources for Health Professionals What glossary definitions help with understanding Lowe syndrome? acidosis ; actin ; cell ; ... rickets ; sex chromosomes ; stage ; syndrome You may find definitions for these and many other terms in the ...

  13. Genetics Home Reference: Klinefelter syndrome

    MedlinePLUS

    ... with those of other conditions. What are the genetic changes related to Klinefelter syndrome? Klinefelter syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  14. Genetics Home Reference: Williams syndrome

    MedlinePLUS

    ... 500 to 10,000 people. What are the genetic changes related to Williams syndrome? Williams syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  15. Genetics Home Reference: Turner syndrome

    MedlinePLUS

    ... to term (miscarriages and stillbirths). What are the genetic changes related to Turner syndrome? Turner syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  16. Genetics Home Reference: Carpenter syndrome

    MedlinePLUS

    ... syndrome? Mutations in the RAB23 or MEGF8 gene cause Carpenter syndrome. The RAB23 gene provides instructions for making a protein that is involved in a process called vesicle trafficking, which moves proteins and other molecules within cells ...

  17. Clinical Features of Turner Syndrome

    MedlinePLUS

    ... Current Studies Publications Lab Staff Contact Info Links Clinical Features Quick Navigation Introduction General Appearance Short Stature ... Thyroid CognitiveFunction/ Educational Issues Table 1. - phenotype incidences Clinical Features of Turner Syndrome Turner syndrome affects approximately ...

  18. Genetics Home Reference: Stickler syndrome

    MedlinePLUS

    ... Characteristics & Diagnostic Criteria Stickler Involved People: Stickler Syndrome Recognition, Diagnosis, Treatment You might also find information on ... joint ; lower jaw ; micrognathia ; mutation ; myopia ; nearsightedness ; palate ; pattern of inheritance ; recessive ; scoliosis ; short stature ; stature ; syndrome ...

  19. Happy Puppet syndrome.

    PubMed

    Sarkar, Priyanka Airen; Shigli, Anand; Patidar, Chetan

    2011-01-01

    Happy Puppet syndrome is characterised by a partial deficit of paired autosomal chromosome 15. It is a neuro-genetic disorder characterised by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling and usually a happy demeanour. It is also called as Angelman syndrome (AS). People with AS are sometimes known as 'angels', both because of the syndrome's name and because of their youthful, happy appearance. A 6.5-year-old girl is presented and clinical suspicion of AS was raised at the age of 4 years when she presented with mental retardation and epilepsy, absence of speech, inability to gait and unprovoked episodes of laughter. Fluorescent in situ hybridisation chromosomal analysis revealed micro deletion on the maternally derived allele of 15q chromosome. PMID:22675103

  20. [Van der Woude syndrome].

    PubMed

    Calzavara Pinton, P G; Gavazzoni, R; Carlino, A; Leali, C

    1989-04-01

    The familial occurrence of lower lip pits (fistulae, sinuses) with or without the cheilo-gnathouranoschisis complex (cleft lip and/or cleft palate) was first described by A. Van der Woude in 1954. The lip pits syndrome is inherited as an autosomal dominant trait with high penetrance (80%), but its clinical expression is variable. Sometimes there may be microforms with only conical elevation and/or surface openings without any deeper sinuses at the typical sites and without cleft lip/palate. We examined 8 members of an Italian family and we observed one member with lip pits and submucous cleft palate and 4 members with only lip pits. Three of these affected members had congenital absence of second premolars too. The presentation, mode of inheritance, aetiology and genetic significance of lip pits syndrome are reviewed. In our opinion this is the first Italian report of the Van der Woude syndrome. PMID:2807397

  1. Lemierre’s syndrome

    PubMed Central

    2013-01-01

    Lemierre’s syndrome is a condition characterized by thrombophlebitis of the internal jugular vein and bacteremia caused by primarily anaerobic organisms, following a recent oropharyngeal infection. This has been an uncommon illness in the era of antibiotic therapy, though it has been reported with increasing frequency in the past 15 years. Lemierre’s syndrome should be suspected in young healthy patients with prolonged symptoms of pharyngitis followed by symptoms of septicemia or pneumonia, or an atypical lateral neck pain. Diagnosis is often confirmed by identification of thrombophlebitis of the internal jugular vein and growth of anaerobic bacteria on blood culture. Treatment involves prolonged antibiotic therapy occasionally combined with anticoagulation. We review the literature and a case of a child with Lemierre’s syndrome. PMID:24152679

  2. The temporal crescent syndrome.

    PubMed

    Ali, Khalid

    2015-02-01

    Retro-chiasmal lesions almost always give rise to homonymous field defects with only one exception. The nasal visual field extends to 60% of the horizon, whereas the temporal field extends to a further 30°-40° beyond that; this part of the visual field is represented on the contralateral anterior parieto-occipital sulcus. A lesion in this area will give rise to monocular visual field defect affecting the contralateral eye. This is called the temporal crescent or the half moon syndrome. In this case report, a woman presented with seizures secondary to haemorrhagic infarction of the anterior part of the parieto-occipital sulcus. She later presented with right-sided visual disturbance; her examination confirmed temporal crescent syndrome. I explain the pathophysiology of this rare neurological syndrome in this report. PMID:25416654

  3. Hemolytic uremic syndrome

    PubMed Central

    Canpolat, Nur

    2015-01-01

    Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of thrombotic microangiopathy, thrombocytopenia, and acute kidney injury. Hemolytic uremic syndrome represents a heterogeneous group of disorders with variable etiologies that result in differences in presentation, management and outcome. In recent years, better understanding of the HUS, especially those due to genetic mutations in the alternative complement pathway have provided an update on the terminology, classification, and treatment of the disease. This review will provide the updated classification of the disease and the current diagnostic and therapeutic approaches on the complement-mediated HUS in addition to STEC-HUS which is the most common cause of the HUS in childhood. PMID:26265890

  4. SUBCLAVIAN STEAL SYNDROME

    PubMed Central

    Pollard, Henry; Rigby, Steven; Moritz, Gray; Lau, Carl

    1998-01-01

    The Subclavian Steal Syndrome is a condition that results from the stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. The blockage causes the reversal of the normal direction of blood flow in the vertebral artery which is termed the "steal", because it steals blood from the cerebral circulation. Blood is drawn from the contralateral vertebral, basilar or carotid artery regions into the low-pressure ipsilateral upper limb vessels. Although a relatively uncommon disease, it represents a condition which mimics many conditions often treated by chiropractors and osteopaths. The term subclavian steal syndrome is applied when reversed vertebral artery flow causes cerebral ischaemia with associated symptoms of vertebrobasilar hypoperfusion and/or symptoms of brainstem or arm ischaemia. This syndrome exists as an important consideration in the differential diagnosis of cerebral and brachial ischaemia. PMID:17989762

  5. Loin pain hematuria syndrome.

    PubMed

    Zubair, Adeel S; Salameh, Hassan; Erickson, Stephen B; Prieto, Mikel

    2016-02-01

    Loin pain hematuria syndrome (LPHS), first described in 1967, is a rare pain syndrome, which is not well understood. The syndrome is characterized by severe intermittent or persistent flank pain, either unilateral or bilateral, associated with gross or microscopic hematuria. LPHS is a diagnosis of exclusion as there still is not a consensus of validated diagnostic criteria, though several criteria have been proposed. The wide differential diagnosis would suggest a meticulous yet specific diagnostic work-up depending on the individual clinical features and natural history. Several mechanisms regarding the pathophysiology of LPHS have been proposed but without pinpointing the actual causative etiology, the treatment remains symptomatic. Treatment modalities for LPHS are diverse including simple analgesia, opioid analgesic and kidney autotransplantation. This review article summarizes the current understanding regarding the pathophysiology of LPHS along with the steps required for proper diagnosis and a discussion of the different therapeutic approaches for LPHS. PMID:26798473

  6. Fish odor syndrome.

    PubMed

    Rehman, H U

    1999-08-01

    Fish odour syndrome (trimethylaminuria) is a metabolic syndrome caused by abnormal excretion of trimethylamine in the breath, urine, sweat, saliva and vaginal secretions. Trimethylamine is derived from the intestinal bacterial degradation of foods rich in choline and carnitine and is normally oxidised by the liver to odorless trimethylamine N-oxide which is then excreted in the urine. Impaired oxidation of trimethylamine is thought to be the cause of the fish odour syndrome and is responsible for the smell of rotting fish. Certain foods rich in choline exacerbate the condition and the patients have a variety of psychological problems. Recognition of the condition is important as dietary adjustments reduce the excretion of trimethylamine and may reduce the odour. Occasionally, a short course of metronidazole, neomycin and lactulose may suppress production of trimethylamine by reducing the activity of gut microflora. PMID:10646019

  7. Loin pain hematuria syndrome

    PubMed Central

    Zubair, Adeel S.; Salameh, Hassan; Erickson, Stephen B.; Prieto, Mikel

    2016-01-01

    Loin pain hematuria syndrome (LPHS), first described in 1967, is a rare pain syndrome, which is not well understood. The syndrome is characterized by severe intermittent or persistent flank pain, either unilateral or bilateral, associated with gross or microscopic hematuria. LPHS is a diagnosis of exclusion as there still is not a consensus of validated diagnostic criteria, though several criteria have been proposed. The wide differential diagnosis would suggest a meticulous yet specific diagnostic work-up depending on the individual clinical features and natural history. Several mechanisms regarding the pathophysiology of LPHS have been proposed but without pinpointing the actual causative etiology, the treatment remains symptomatic. Treatment modalities for LPHS are diverse including simple analgesia, opioid analgesic and kidney autotransplantation. This review article summarizes the current understanding regarding the pathophysiology of LPHS along with the steps required for proper diagnosis and a discussion of the different therapeutic approaches for LPHS. PMID:26798473

  8. Congenital hypothyroidism in Rieger Syndrome.

    PubMed

    Örnek, Nurgül; Oğurel, Reyhan; Örnek, Kemal

    2016-03-01

    Rieger syndrome (RS) is a multiple malformation syndrome characterized by ocular manifestations and extraocular defects. Herein, we report a 9-year-old boy who exhibited Rieger Syndrome phenotype as well as congenital hypothyroidism which may be an underappreciated feature of RS. PMID:24666291

  9. Syndrome by Any Other Name. . .

    ERIC Educational Resources Information Center

    Bowers, Drew

    2008-01-01

    The word "syndrome" is one of those words that has slipped into one's vocabulary with few realizing what exactly it means or all the implications it carries. The word "syndrome" can be defined as "a group of signs and symptoms that occur together and characterize a particular abnormality or condition." Typically, a syndrome will be defined by…

  10. Down Syndrome: A Cardiovascular Perspective

    ERIC Educational Resources Information Center

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  11. Down Syndrome: A Cardiovascular Perspective

    ERIC Educational Resources Information Center

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  12. Genetics Home Reference: KBG syndrome

    MedlinePLUS

    ... disorder in their family. Where can I find information about diagnosis or management of KBG syndrome? These resources address the diagnosis ... Testing Registry: KBG syndrome You might also find information on the diagnosis or management of KBG syndrome in Educational resources and Patient ...

  13. An Overview of Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.

    This booklet presents information regarding the history, incidence, and effects of Down Syndrome. The first chapter, presenting an historical perspective of the condition, provides information on counseling parents of Down Syndrome children, and the chromosome structures seen in Down Syndrome patients. The next chapter discusses medical aspects in…

  14. 18p- syndrome and hypopituitarism.

    PubMed Central

    Artman, H G; Morris, C A; Stock, A D

    1992-01-01

    A patient is described with 18p- syndrome and hypopituitarism. This is the first patient with this syndrome who has been shown to benefit from growth hormone therapy. Patients with this syndrome who have growth deficiency should be considered for evaluation for hypopituitarism, if the quality of their lives would improve with an increase in stature. Images PMID:1404301

  15. CHARGE Syndrome: An Educators' Primer

    ERIC Educational Resources Information Center

    Smith, Katherine G.; Smith, Isabel M.; Blake, Kim

    2010-01-01

    This paper introduces educators to CHARGE syndrome (CS), a multiple anomaly developmental syndrome that is usually accompanied by some degree of hearing and visual impairment. We describe the defining medical characteristics of the syndrome, and following this, outline the behavioral features commonly seen in individuals with CS. Throughout, we…

  16. A Journey with Klinefelter Syndrome

    ERIC Educational Resources Information Center

    Cover, Virginia Isaacs

    2006-01-01

    In this article, the author shares her experience having a son with Klinefelter Syndrome. Klinefelter Syndrome, also known as 47,XXY, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Babies with Klinefelter Syndrome rarely have any physical differences that are detectable, which is the reason that so few…

  17. Urinary Peptides in Rett Syndrome.

    ERIC Educational Resources Information Center

    Solaas, K. M.; Skjeldal, O.; Gardner, M. L. G.; Kase, B. F.; Reichelt, K. L.

    2002-01-01

    A study found a significantly higher level of peptides in the urine of 53 girls with Rett syndrome compared with controls. The elevation was similar to that in 35 girls with infantile autism. Levels of peptides were lower in girls with classic Rett syndrome than those with congenital Rett syndrome. (Contains references.) (Author/CR)

  18. Down Syndrome Is for Life.

    ERIC Educational Resources Information Center

    Stratford, Brian

    1994-01-01

    This paper presents Down's syndrome as a part of the human race's rich biological inheritance rather than a condition to be pitied. The history of the discovery of the biological basis of Down's syndrome is reviewed, along with attitudes toward individuals with Down's syndrome over time and developments in medicine and education. (JDD)

  19. Down Syndrome. ERIC Digest #457.

    ERIC Educational Resources Information Center

    Manfredini, Dianne

    This information sheet briefly describes the history of the identification of Down Syndrome, its prenatal diagnosis, characteristics of individuals with Down Syndrome, its causes, its rate of occurrence and recurrence, its impact on child development, and recommended content of education programs for children with Down Syndrome. A list of seven…

  20. Postural Orthostatic Tachycardia Syndrome

    PubMed Central

    2014-01-01

    The postural orthostatic tachycardia syndrome is a disease characterized by excessively increased heart rate during orthostatic challenge associated with symptoms of orthostatic intolerance including dizziness, exercise intolerance, headache, fatigue, memory problems, nausea, blurred vision, pallor, and sweating, which improve with recumbence. Postural orthostatic tachycardia syndrome patients may present with a multitude of additional symptoms that are attributable to vascular vasoconstriction. Observed signs and symptoms in a patient with postural orthostatic tachycardia syndrome include tachycardia at rest, exaggerated heart rate increase with upright position and exercise, crushing chest pain, tremor, syncope, loss of vision, confusion, migraines, fatigue, heat intolerance, parasthesia, dysesthesia, allodynia, altered traditional senses, and thermoregulatory abnormalities. There are a number of possible dermatological manifestations of postural orthostatic tachycardia syndrome easily explained by its recently discovered pathophysiology. The author reports the case of a 22-year-old woman with moderate-to-severe postural orthostatic tachycardia syndrome with numerous dermatological manifestations attributable to the disease process. The cutaneous manifestations observed in this patient are diverse and most noticeable during postural orthostatic tachycardia syndrome flares. The most distinct are evanescent, hyperemic, sharply demarcated, irregular patches on the chest and neck area that resolve upon diascopy. This distinct “evanescent hyperemia” disappears spontaneously after seconds to minutes and reappears unexpectedly. Other observed dermatological manifestations of this systemic disease include Raynaud’s phenomenon, koilonychia, onychodystrophy, madarosis, dysesthesia, allodynia, telogen effluvium, increased capillary refill time, and livedo reticularis. The treatment of this disease poses a great challenge. The author reports the unprecedented use of an oral angiotensin II type 1 receptor antagonist resulting in remarkable improvement. PMID:25161760

  1. Syndrome in question*

    PubMed Central

    Rebellato, Priscila Regina Orso; Rezende, Camila Makino; Battaglin, Eveline Roesler; de Lima, Brunno Zeni; Fillus Neto, Jose

    2015-01-01

    Morbihan Syndrome is a rare entity with unknown etiology. It is clinically characterized by chronic erythematous edema on the face - especially in the middle and upper third of the face - and creates abnormal facial contours that are initially intermitent but become permanent with the development of the syndrome. The histopathology is nonspecific and its therapy is a major challenge due to poor response to the various treatment options. We present the case of a male patient with a five-month-history of disease.

  2. Hair tourniquet syndrome: revisited.

    PubMed

    Hussin, P; Mawardi, M; Masran, M S; Ganaisan, P

    2015-01-01

    Hair tourniquet syndrome is a rare condition. It is an important emergency condition where urgent attention is needed. In this condition, body appendages are strangulated by hair that acts like a tourniquet. A strand or strands of hair act like a circumferential constriction band and subsequently strangulate the body appendages. Commonly affected sites include fingers, toes or even genitals. Failure to identify and release the acute constriction may result in amputation of affected body part. We report two cases of hair tourniquet syndrome of the thumb and toe that were successfully released without complications. PMID:26712259

  3. Equine metabolic syndrome.

    PubMed

    Frank, Nicholas

    2011-04-01

    The concept of an equine metabolic syndrome (EMS) was first proposed in 2002. This concept has developed over time, and EMS was recently described in a consensus statement released by the American College of Veterinary Internal Medicine. In human medicine, metabolic syndrome (MetS) refers to a set of risk factors that predict the risk of cardiovascular disease, including obesity, glucose intolerance and insulin resistance (IR), dyslipidemia, microalbuminuria, and hypertension. EMS shares some of the features of MetS, including increased adiposity, hyperinsulinemia, IR, but differs in that laminitis is the primary disease of interest. PMID:21392655

  4. Multiple Endocrine Neoplasia Syndromes.

    PubMed

    Clark, Pamela

    2015-01-01

    Multiple endocrine neoplasia (MEN) is a term used to describe a group of hereditary carcinoma syndromes. Patients carrying a characteristic autosomal dominant gene aberration exhibit various endocrine carcinomas, as well as other anatomical abnormalities. Unfortunately, familial endocrine carcinoma patients are too often unrecognized by primary care providers, resulting in delayed diagnosis and treatment, with profound consequences related to morbidity and mortality. This article will introduce the various MEN syndromes and the infusion nurse's role in the care of these individuals and their families. PMID:26536410

  5. Understanding Thoracic Outlet Syndrome

    PubMed Central

    Freischlag, Julie

    2014-01-01

    The diagnosis of thoracic outlet syndrome was once debated in the world of vascular surgery. Today, it is more understood and surprisingly less infrequent than once thought. Thoracic outlet syndrome (TOS) is composed of three types: neurogenic, venous, and arterial. Each type is in distinction to the others when considering patient presentation and diagnosis. Remarkable advances have been made in surgical approach, physical therapy, and rehabilitation of these patients. Dedicated centers of excellence with multidisciplinary teams have been developed and continue to lead the way in future research. PMID:25140278

  6. Treacher Collins Syndrome

    PubMed Central

    Chang, Christopher C.; Steinbacher, Derek M.

    2012-01-01

    Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome. PMID:23633935

  7. Recognizing Battered Wife Syndrome

    PubMed Central

    Swanson, Richard W.

    1985-01-01

    Battered wife syndrome is difficult to detect because the women usually do not volunteer the diagnosis. They often present with vague somatic complaints such as headache, lower back pain, abdominal pain, pelvic pain and dyspareunia. Four case histories demonstrate the difficulty in recognizing the cause of these complaints. The diagnosis was often missed because straight-forward, non-threatening, open-ended questions were not asked initially. The family physician's primary role is to identify the syndrome and initiate psychotherapy. Psychotherapy is centred on reversing “learned helplessness” and developing a new self-concept. This can be enhanced by an interval or transition house. PMID:21274067

  8. Ramsay Hunt syndrome.

    PubMed

    Sweeney, C J; Gilden, D H

    2001-08-01

    The strict definition of the Ramsay Hunt syndrome is peripheral facial nerve palsy accompanied by an erythematous vesicular rash on the ear (zoster oticus) or in the mouth. J Ramsay Hunt, who described various clinical presentations of facial paralysis and rash, also recognised other frequent symptoms and signs such as tinnitus, hearing loss, nausea, vomiting, vertigo, and nystagmus. He explained these eighth nerve features by the close proximity of the geniculate ganglion to the vestibulocochlear nerve within the bony facial canal. Hunt's analysis of clinical variations of the syndrome now bearing his name led to his recognition of the general somatic sensory function of the facial nerve and his defining of the geniculate zone of the ear. It is now known that varicella zoster virus (VZV) causes Ramsay Hunt syndrome. Compared with Bell's palsy (facial paralysis without rash), patients with Ramsay Hunt syndrome often have more severe paralysis at onset and are less likely to recover completely. Studies suggest that treatment with prednisone and acyclovir may improve outcome, although a prospective randomised treatment trial remains to be undertaken. In the only prospective study of patients with Ramsay Hunt syndrome, 14% developed vesicles after the onset of facial weakness. Thus, Ramsay Hunt syndrome may initially be indistinguishable from Bell's palsy. Further, Bell's palsy is significantly associated with herpes simplex virus (HSV) infection. In the light of the known safety and effectiveness of antiviral drugs against VZV or HSV, consideration should be given to early treatment of all patients with Ramsay Hunt syndrome or Bell's palsy with a 7-10 day course of famciclovir (500 mg, three times daily) or acyclovir (800 mg, five times daily), as well as oral prednisone (60 mg daily for 3-5 days). Finally, some patients develop peripheral facial paralysis without ear or mouth rash, associated with either a fourfold rise in antibody to VZV or the presence of VZV DNA in auricular skin, blood mononuclear cells, middle ear fluid, or saliva. This indicates that a proportion of patients with "Bell's palsy" have Ramsay Hunt syndrome zoster sine herpete. Treatment of these patients with acyclovir and prednisone within 7 days of onset has been shown to improve the outcome of recovery from facial palsy. PMID:11459884

  9. Acute chest syndrome.

    PubMed

    Al-Dabbous, Ibrahim A

    2002-09-01

    Acute chest syndrome is an acute pulmonary illness in patients with sickle cell disease. It is a common problem, causing significant morbidity and mortality. Many factors may cause this syndrome. Treatment is primarily supportive. Therapy includes hydration, analgesia, supplemental oxygen, antibiotics, blood transfusion and mechanical ventilation. Early detection and aggressive management may limit its severity and prevent its complications. This article reviews the current information for its definition, frequency, pathogenesis, clinical features, complications, investigations, management and prevention. Recent advances in management of acute and recurrent attacks will be discussed. PMID:12370708

  10. Shaken baby syndrome.

    PubMed

    Martin, Heidi A; Woodson, Arnetta; Christian, Cindy W; Helfaer, Mark A; Raghupathi, Ramesh; Huh, Jimmy W

    2006-09-01

    Unfortunately, head trauma caused by shaken baby syndrome is a common occurrence in infants and young children. The proper treatment and safety of these children can be enhanced by the nurse's ability to recognize features characteristic of this syndrome. If abuse is suspected, appropriate physicians, child-protective, and law-enforcement agencies should be notified immediately. Further research must be done to improve the understanding of the mechanisms associated with this disorder in the ultimate hope of improving the lives and outcome of infants and children. PMID:16962449

  11. Asperger syndrome revisited.

    PubMed

    Baskin, Joseph H; Sperber, Michael; Price, Bruce H

    2006-01-01

    Asperger syndrome (AS) is a disorder on the continuum of autistic spectrum disorders characterized by a lack of social reciprocity and empathy, and severe difficulties in social integration. Controversy remains as to what constitutes AS and whether it should be declared a separate disease or higher-functioning autism. This review discusses the contributions made by Hans Asperger and Leo Kanner in first delineating the condition, and examines the syndrome's incidence, prevalence, and etiologies. Recent studies using neuroimaging are described, along with current diagnostic and treatment options. PMID:16596080

  12. [Sturge-Weber syndrome].

    PubMed

    Sugano, Hidenori; Nakanishi, Hajime; Nakajima, Madoka; Higo, Takuma; Iimura, Yasushi; Shimoji, Kazuaki; Arai, Hajime

    2010-07-01

    Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by intracranial leptomeningeal angioma, facial port-wine nevi, and glaucoma. Diagnosis is relatively easy because of the facial angioma and MRI findings, but evaluating severity is difficult. Predictors of SWS's prognosis are epilepsy and brain dysfunction under the leptomeningeal angioma. Therefore, active research has been intensely conducted with electrophysiological, neuroimaging, and neuropsychological methods. Final goals of this research are to define the therapeutic strategy. In this review, we focus on recent advances in neuroimaging and EEG analysis to discover the epileptogenesis, the most adequate therapy, and prospective topics of investigation in SWS. PMID:20628187

  13. War Sailor syndrome.

    PubMed

    Askevold, F

    One third of the Norwegian sailors in the merchant navy, who survived World War II, are today disabled and on invalid pension. The majority suffer from a syndrome which is very similar to that present in the concentration camp survivors. The syndrome falls into two parts, the one consisting of non-neurotic anxiety repeating the terrors of war time, the other being a brain-organic one. This last part has in a few cases been confirmed by neuroradiology and neuropsychology. This is taken as an indicator that prolonged stress, as constant fear of death, may cause brain damage without physical trauma. PMID:1052273

  14. Parry-Romberg syndrome

    PubMed Central

    Aydın, Hasan; Yologlu, Zeynel; Sargın, Husamettin; Metin, Melike Rusen

    2015-01-01

    Progressive hemifacial atrophy also known as Parry-Romberg syndrome is an acquired, slowly progressive disorder, occurring more in women, primarily affecting one side of the face, mainly characterized by unilateral atrophy, and loss of skin and subcutaneous tissues of face, muscles, and bones. Ocular and neurologic involvements are common. The possible etiology is unclear without any known cure. We report a rare case of Parry-Romberg syndrome with classical features. The clinical features, radiological imaging findings, differential diagnosis, and available treatment options are discussed in this report. PMID:26492117

  15. [The Patau syndrome].

    PubMed

    Misanović, Verica; Jonuzi, Fedat; Biscević, Emir; Uzicanin, Sajra; Vegar, Sandra

    2002-01-01

    Known as D trisomy, Patau syndrome is the third chromosomopathy according to frequency. One of the 5000 newborn carries the trisomy 13. In over 80% cases there is fresh mutation with non separation in myeosis of older mother. The mosaic or translocation forms are not rare. The mail newborn with Patau syndrome is shown in this article. We notice: microcephalia, dolihocephalia, microphthalmia, cheilognatopalatoshisis, polydactilia, and found ultrasound changes at the brain, hearth and genitourinary system. Cytogenetic finding show: mail cariotype with aberrations 47, XY + 13, Sy Patau. PMID:12762245

  16. Toe tourniquet syndrome.

    PubMed

    Kamal, Naglaa M; Khan, Ubaid U; Mirza, Shazia J; Al-Malki, Talal A

    2014-08-01

    Toe tourniquet syndrome refers to external, mechanical, circumferential constriction of the toes. We report a series of 4 infants with toe tourniquet syndrome from Saudi Arabia who presented during wintertime with very similar symptoms (approximately 48 hours of inconsolable crying and irritability), similar involved region (toes), and similar constricting agent (hairs). Immediate removal of the hair fibers was carried out in all patients, fortunately followed by fast healing with no signs of tissue necrosis. The prompt diagnosis and treatment of the condition were vital in attaining the good outcome and preventing ischemic complications.  PMID:25129188

  17. [Donohue syndrome or leprechaunism].

    PubMed

    Planchenault, D; Martin-Coignard, D; Rugemintwaza, D; Bah, A-G; Cosson, L; Labarthe, F; Chantepie, A; Saliba, E

    2014-02-01

    Donohue syndrome or leprechaunism is a severe congenital insulin-resistance syndrome. It is characterized by intra-uterine and neonatal growth retardation, typical dysmorphic features, and metabolic abnormalities with hyperinsulinism and hyperandrogenism. Problems in energy metabolism and loss of glucose homeostasis are responsible for early death in the first year of life. We describe a case with a novel homozygote mutation in the insulin receptor gene. This patient had hypertrophic cardiomyopathy with heart failure and bronchial compression leading to clinical deterioration over 5 days and subsequently death. A treatment with recombinant IGF-1 was tried without efficacy. PMID:24388461

  18. Hair tourniquet syndrome: revisited

    PubMed Central

    HUSSIN, P.; MAWARDI, M.; MASRAN, M.S.; GANAISAN, P.

    2015-01-01

    Hair tourniquet syndrome is a rare condition. It is an important emergency condition where urgent attention is needed. In this condition, body appendages are strangulated by hair that acts like a tourniquet. A strand or strands of hair act like a circumferential constriction band and subsequently strangulate the body appendages. Commonly affected sites include fingers, toes or even genitals. Failure to identify and release the acute constriction may result in amputation of affected body part. We report two cases of hair tourniquet syndrome of the thumb and toe that were successfully released without complications. PMID:26712259

  19. Shaken baby syndrome.

    PubMed

    Altimier, Leslie

    2008-01-01

    Non-accidental head trauma in infants is the leading cause of infant death from injury. Clinical features that suggest head trauma (also known as shaken baby syndrome or shaken impact syndrome) include the triad consisting of retinal hemorrhage, subdural, and/or subarachnoid hemorrhage in an infant with little signs of external trauma. Abusive head injuries are among the most common causes of serious and lethal injuries in children. These injuries may result from impact or shaking or a combination of these mechanisms. These mechanisms cause the child's head to undergo acceleration/ deceleration movements, which may create inertial movement of the brain within the cranial compartment. PMID:18287904

  20. [Neuroleptic induced deficit syndrome].

    PubMed

    Szafra?ski, T

    1995-01-01

    Increasing interest in subjective aspects of therapy and rehabilitation focused the attention of psychiatrists, psychologists and psychopharmacologists on the mental side effects of neuroleptics. For the drug-related impairment of affective, cognitive and social function the name of neuroleptic-induced deficit syndrome (NIDS) is proposed. Patients with NIDS appear to be indifferent to the environmental stimuli, retarded and apathetic. They complain of feeling drugged and drowsy, weird, they suffer from lack of motivation, feel like "zombies". The paper presents description of NIDS and its differentiation from negative and depressive symptoms in schizophrenia and subjective perceiving of extrapyramidal syndromes. PMID:7652089

  1. The telomere syndromes

    PubMed Central

    Armanios, Mary; Blackburn, Elizabeth H.

    2013-01-01

    There has been mounting evidence of a causal role for telomere dysfunction in a number of degenerative disorders. Their manifestations encompass common disease states such as idiopathic pulmonary fibrosis and bone marrow failure. Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect. Here we review the manifestations and unique genetics of telomere syndromes. We also discuss their underlying molecular mechanisms and significance for understanding common age-related disease processes. PMID:22965356

  2. West syndrome in a patient with Schinzel-Giedion syndrome.

    PubMed

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. PMID:25028416

  3. Stress in Families of Young Children with Down Syndrome, Williams Syndrome, and Smith-Magenis Syndrome.

    ERIC Educational Resources Information Center

    Fidler, Deborah J.; Hodapp, Robert M.; Dykens, Elizabeth M.

    2000-01-01

    Compared stress levels in families of children with Down syndrome (DS), Williams syndrome (WS), or Smith-Magenis syndrome (SMS). Found that DS families experienced less Pessimism than others and less Parent and Family Problems than SMS families. Strongest predictors of Parent and Family Problems were maladaptive behavior in SMS, younger age in DS,…

  4. [Angiography in thoracic outlet syndrome].

    PubMed

    Bogalho, L; Seixas, I; Martins, J M; Pisco, J M

    1998-01-01

    The thoracic outlet syndrome is a changeable clinical syndrome caused by compression of the neurovascular bundle of the upper extremity, within the cervicoaxillary channel. From April 1980 through May 1995, 24 patients with clinical thoracic outlet syndrome were evaluated by selective arteriography. The diagnosis was confirmed in seven patients, in 14 the exam was normal and in the last three cases another arterial pathology was detected--subclavian artery occlusion, subclavian artery kinking and vertebral steal syndrome. The authors' aim is to emphasize arteriography as a diagnostic exam for thoracic outlet syndrome, very useful in the detection and localization of arterial compression. It also allows the diagnosis of other arterial entities. PMID:9542176

  5. Combined Alport syndrome and Klinefelter syndrome.

    PubMed

    Nishida, Masashi; Hashimoto, Fusako; Kaito, Hiroshi; Nozu, Kandai; Iijima, Kazumoto; Asada, Dai; Hamaoka, Kenji

    2016-02-01

    To date, there have been a very limited number of case reports on combined Alport syndrome (AS) and Klinefelter syndrome (KS). We herein describe the case of a 9-month-old boy diagnosed with concomitant AS and KS. KS was detected on chromosomal analysis of the amniotic fluid, and hematuria/proteinuria was identified in urinary screening at 6?months of age. Renal biopsy indicated AS, with complete deficit of the ?5 chain of type IV collagen in the glomerular basement membranes. On genetic analysis for AS, de novo homozygote mutation (c.3605-2a > c) was seen in the gene encoding ?5 chain of type IV collagen (COL4A5) on the X chromosomes of maternal origin. This is the first case report of combined AS and KS diagnosed during infancy, and it indicates the need to consider the concurrent existence of these two disorders in infants with urine abnormalities, even in the absence of a family history. PMID:26554353

  6. Prader-Willi syndrome and Angelman syndrome.

    PubMed

    Buiting, Karin

    2010-08-15

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the proximal long arm of chromosome 15 are affected. Although the SNORD116 gene cluster has become a prime candidate for PWS, it cannot be excluded that other paternally expressed genes in the chromosomal region 15q11q13 contribute to the full phenotype. AS is caused by a deficiency of the UBE3A gene, which in the brain is expressed from the maternal allele only. The most frequent genetic lesions in both disorders are a de novo deletion of the chromosomal region 15q11q13, uniparental disomy 15, an imprinting defect or, in the case of AS, a mutation of the UBE3A gene. Microdeletions in a small number of patients with PWS and AS have led to the identification of the chromosome 15 imprinting center (IC). The IC consists of two critical elements, which act in cis to regulate imprinting in the whole chromosome 15q11q13 imprinted domain. PMID:20803659

  7. Postthyroidectomy Horner's Syndrome

    PubMed Central

    Vilallonga, Ramon; Fort, José Manuel; Mazarro, Alejandro; Gonzalez, Oscar; Caubet, Enric; Romero, Giancarlo; Armengol, Manel

    2012-01-01

    Horner's syndrome (HSd) results from an injury along the cervical sympathetic chain, producing ipsilateral miosis, ptosis, enophthalmos, and facial anhydrosis. Although more commonly associated to malignant tumors affecting the preganglionar segment of the sympathetic chain (especially in the lung apex), HSd has been described as a rare complication of thyroid surgery. We herein report a case of HSd after completing total thyroidectomy. PMID:23118763

  8. [Familial Wolfram syndrome].

    PubMed

    Bessahraoui, M; Paquis, V; Rouzier, C; Bouziane-Nedjadi, K; Naceur, M; Niar, S; Zennaki, A; Boudraa, G; Touhami, M

    2014-11-01

    Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy. Other symptoms such as diabetes insipidus, deafness, and psychiatric disorders are less frequent. The WFS1 gene, responsible for the disease and encoding for a transmembrane protein called wolframin, was localized in 1998 on chromosome 4p16. In this report, we present a familial observation of Wolfram syndrome (parents and three children). The propositus was a 6-year-old girl with diabetes mellitus and progressive visual loss. Her family history showed a brother with diabetes mellitus, optic atrophy, and deafness since childhood and a sister with diabetes mellitus, optic atrophy, and bilateral hydronephrosis. Thus, association of these familial and personal symptoms is highly suggestive of Wolfram syndrome. The diagnosis was confirmed by molecular analysis (biology), which showed the presence of WFS1 homozygous mutations c.1113G>A (p.Trp371*) in the three siblings and a heterozygote mutation in the parents. Our observation has demonstrated that pediatricians should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. PMID:25282462

  9. Central Cord Syndrome

    MedlinePLUS

    ... syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands ... STANDUP (782-6387) Fax: 305-243-6017 National Spinal Cord Injury Association 120-34 Queens Boulevard, #1320 Kew Gardens, ...

  10. Annotation: The Savant Syndrome

    ERIC Educational Resources Information Center

    Heaton, Pamela; Wallace, Gregory L.

    2004-01-01

    Background: Whilst interest has focused on the origin and nature of the savant syndrome for over a century, it is only within the past two decades that empirical group studies have been carried out. Methods: The following annotation briefly reviews relevant research and also attempts to address outstanding issues in this research area.…

  11. Dravet Syndrome History

    ERIC Educational Resources Information Center

    Dravet, Charlotte

    2011-01-01

    Severe myoclonic epilepsy of infancy (SMEI) is a complex form of epilepsy that was first described in France in 1978. Because the myoclonic component of this epilepsy is not always present and because some variability has been observed in the symptomatology, the name was changed to Dravet syndrome in 1989. The genetic aetiology of this epilepsy…

  12. Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Zerrer, Peggy

    The paper reviews Fetal Alcohol Syndrome (FAS), a series of effects seen in children whose mothers drink alcohol to excess during pregnancy. The identification of FAS and its recognition as a major health problem in need of prevention are traced. Characteristics of children with FAS are described and resultant growth retardation, abnormal physical…

  13. Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Zerrer, Peggy

    The paper reviews Fetal Alcohol Syndrome (FAS), a series of effects seen in children whose mothers drink alcohol to excess during pregnancy. The identification of FAS and its recognition as a major health problem in need of prevention are traced. Characteristics of children with FAS are described and resultant growth retardation, abnormal physical…

  14. Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Barnett, Henry L.; And Others

    There is a growing body of evidence that Sudden Infant Death Syndrome (SIDS) victims are not completely normal and healthy, as was once believed. A variety of new information from several disciplines strongly suggests that the infant who dies suddenly and unexpectedly may do so because of subtle developmental, neurologic, cardiorespiratory, and…

  15. [Guillain-Barré syndrome].

    PubMed

    Rzeszutko, W; Sciborski, R; Bili?ska, M

    1989-05-01

    A case of the Gullain-Barré syndrome was observed in a woman aged 18 years. The course was acute and fatal. Sedimentation plasmaferesis was applied in the treatment. A peculiarity of the case was the ascending course of paralysis and coexistence of encephalomyelitis. PMID:2629331

  16. Classical Sweet's syndrome.

    PubMed

    Jindal, Saurabh R; Kura, Mahendra M

    2014-01-01

    A 38-year - old female came to us with sudden eruptions of painful edematous lesions which appeared pseudovesicular on cutaneous examination. Histopathology supported the diagnosis of sweet's syndrome and she responded to a combination of dapsone and oral steroids, after having relapsed on self-discontinuation of monotherapy with dapsone. PMID:24616879

  17. Modelling Down Syndrome

    ERIC Educational Resources Information Center

    Buckley, Frank

    2008-01-01

    Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…

  18. Polycystic Ovary Syndrome

    MedlinePLUS

    ... Treated? Coping With Polycystic Ovary Syndrome en español Síndrome de ovario poliquístico Cecily never really worried that her periods weren't regular because, like many girls, she assumed her monthly cycle would take time to settle down. But then Cecily's periods stopped for several months, ...

  19. Modelling Down Syndrome

    ERIC Educational Resources Information Center

    Buckley, Frank

    2008-01-01

    Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…

  20. Dravet Syndrome History

    ERIC Educational Resources Information Center

    Dravet, Charlotte

    2011-01-01

    Severe myoclonic epilepsy of infancy (SMEI) is a complex form of epilepsy that was first described in France in 1978. Because the myoclonic component of this epilepsy is not always present and because some variability has been observed in the symptomatology, the name was changed to Dravet syndrome in 1989. The genetic aetiology of this epilepsy…

  1. Neonatal abstinence syndrome

    MedlinePLUS

    ... Epub ahead of print] Bio LL, Siu A, Poon CY. Update on the pharmacologic management of neonatal abstinence syndrome. J Perinatol. 2011 Nov;31(11):692-701. McQueen KA, Murphy-Oikonen J, Gerlach K, Montelpare W. The impact of infant feeding method ...

  2. Tourette Syndrome: Classroom Implications

    ERIC Educational Resources Information Center

    Chaturvedi, Amrita; Gartin, Barbara C.; Murdick, Nikki L.

    2011-01-01

    Tourette Syndrome (TS) is a neurobiological disorder characterized by various involuntary motor movements and vocal tics. Symptoms of TS emerge between the ages of 3 to 8 years old, are most severe when an individual reaches puberty, and decrease by the time a person is 20 years old. Additionally, persons with TS may have secondary disabilities of…

  3. IBMFS - Pearson Syndrome

    Cancer.gov

    Patients with Pearson Syndrome may have poor food absorption (malabsorption) and low white blood cell counts (neutropenia). Low red cell counts (anemia) can be a major problem, and low platelet counts (thrombocytopenia) can also occur. Symptoms are often present in infancy. Liver and kidney disease usually develop. Examination of the bone marrow under the microscope reveals characteristic holes ("vacuoles") in many cells.

  4. Neurological syndromes of brucellosis.

    PubMed Central

    Bahemuka, M; Shemena, A R; Panayiotopoulos, C P; al-Aska, A K; Obeid, T; Daif, A K

    1988-01-01

    Eleven patients with brucellosis presented with neurological features closely simulating transient ischaemic attacks, cerebral infarction, acute confusional state, motor neuron disease, progressive multisystem degeneration, polyradiculoneuropathy, neuralgic amyotrophy, sciatica and cauda equina syndrome. Most patients improved quickly after adequate antibiotic treatment but chronic cases responded poorly. These protean neurological manifestations of brucellosis indicate that the underlying pathological mechanisms are diverse. PMID:3145961

  5. Os Trigonum Syndrome

    MedlinePLUS

    ... ACFAS | Información en Español Advanced Search Home » Foot & Ankle Conditions » Os Trigonum Syndrome Text Size Print Bookmark ... extra (accessory) bone that sometimes develops behind the ankle bone (talus). It is connected to the talus ...

  6. Tarsal Tunnel Syndrome

    MedlinePLUS

    ... ACFAS | Información en Español Advanced Search Home » Foot & Ankle Conditions » Tarsal Tunnel Syndrome Text Size Print Bookmark ... space that lies on the inside of the ankle next to the ankle bones. The tunnel is ...

  7. [Management of myelodysplastic syndromes].

    PubMed

    Duchmann, Matthieu; Fenaux, Pierre; Cluzeau, Thomas

    2015-11-01

    Myelodysplastic syndromes are heterogeneous diseases whose molecular characteristics have only been identified in recent years. Better identification of prognostic factors, larger access to allogeneic stem cell transplantation and the advent of new drugs notably hypomethylating agents (azacitidine, decitabine) and lenalidomide have improved patient outcome. PMID:26410692

  8. Shaken baby syndrome.

    PubMed

    Miehl, Nickolaus J

    2005-01-01

    Shaken baby syndrome (SBS) is a violent act of abuse that can cause myriad neurologic, cognitive, and other functional deficits. In the most serious cases, death can result. Health care practitioners, child care providers, and parents must be educated on the signs of SBS. Cases should be thoroughly reviewed and prevention strategies developed to prevent future incidents. PMID:17073042

  9. Sotos Syndrome. Clinical Exchange.

    ERIC Educational Resources Information Center

    Shuey, Elaine M.; Jamison, Kristen

    1996-01-01

    Sotos syndrome is characterized by high birth length, rapid bone growth, distinctive facial features, and possible verbal and motor delays. It is more common in males than females. Developmental deficits, specific learning problems, and speech/language delays may also occur. (DB)

  10. Living with Marfan Syndrome

    MedlinePLUS

    ... hard ball. Examples of these sports are baseball, soccer, and ice hockey. Your doctor may suggest low- and moderate-impact activities, such as swimming, golf, brisk walking, hiking, and tennis. If you have a child who has Marfan syndrome, talk with his or ...

  11. THE CONTEMPORARY POVERTY SYNDROME.

    ERIC Educational Resources Information Center

    LEWIS, HYLAN

    THE POVERTY SYNDROME IS A COMBINATION OF MANY NEGATIVE FACTORS, AMONG WHICH ARE LOW INCOME AND ABSENCE OF FAMILY LIFE. THE EROSION OF FAMILY LIFE IN MANY POOR FAMILIES IS DUE LESS TO A LACK OF RECOGNITION AND AFFIRMATION OF SO-CALLED MIDDLE-CLASS VALUES, THAN TO THE INABILITY TO SUPPORT THESE VALUES. BEHAVIOR OF THE BULK OF POOR FAMILIES APPEARS…

  12. What Causes Rett Syndrome?

    MedlinePLUS

    ... 8 Why do mostly females and so few boys have Rett syndrome? Two types of chromosomes determine the sex of an embryo: the X and the Y chromosomes. Girls have two X chromosomes, and boys have one X and one Y chromosome. Because ...

  13. Fragile X Syndrome

    ERIC Educational Resources Information Center

    Schwarte, Andrea R.

    2008-01-01

    This article provides an overview of current research on Fragile X Syndrome, and how that knowledge can be used to guide successful intervention. The genetic etiology of Fragile X is reviewed and the physical, cognitive, adaptive, behavioral, and emotional phenotypes of children with the disorder are described, highlighting the differences in…

  14. Postural orthostatic tachycardia syndrome.

    PubMed

    Agarwal, A K; Garg, R; Ritch, A; Sarkar, P

    2007-07-01

    Postural orthostatic tachycardia syndrome (POTS) is an autonomic disturbance which has become better understood in recent years. It is now thought to encompass a group of disorders that have similar clinical features, such as orthostatic intolerance, but individual distinguishing parameters--for example, blood pressure and pulse rate. The clinical picture, diagnosis, and management of POTS are discussed. PMID:17621618

  15. Venlafaxine withdrawal syndrome.

    PubMed

    Sablji?, Vladimir; Ruži?, Klementina; Rakun, Radmir

    2011-03-01

    Dual-action antidepressants serotonin-norepinephrine reuptake inhibitors (SRNIs) are widely used to treat depression. Owing to its efficiency and safety, venlafaxine holds a prominent place in this group of depressants. Abrupt venlafaxine discontinuation involves a high risk of withdrawal syndrome. Mechanism of its development is similar to that of selective serotonin reuptake inhibitors (SSRIs), but of higher intensity. Venlafaxine withdrawal symptoms may include several somatic symptoms as well as several psychiatric symptoms. In some cases, symptoms may look like a stroke. A treatment option is re-inclusion of venlafaxine or a SSRI antidepressant. The paper presents the case of a 70-year-old patient who discontinued of her own accord to take venlafaxine, which she had been taking regularly at a daily dose of 225 mg for more than a year. A few hours after taking the last dose, withdrawal syndrome occurred with severe symptoms resembling a stroke. The patient was examined by a neurologist and the CT and laboratory parameters showed no irregularities. Diagnosis was made after psychiatric observation. Venlafaxine, 150 mg per day, was prescribed, the symptoms disappeared relatively quickly, and the patient fully recovered. Withdrawal syndrome is a real risk for each venlafaxine treated patient. The possibility of its occurrence should be always kept in mind and patients should be timely informed about it. In this way, the risk of venlafaxine withdraw syndrome could be reduced, unnecessary stress to patients prevented and the costs of medical treatment lowered. PMID:21448114

  16. Carpal Tunnel Syndrome

    PubMed Central

    Mahoney, James Leo; Dagum, Alexander B.

    1992-01-01

    Carpal tunnel syndrome is a very common hand problem usually presenting with nighttime pain, numbness, and loss of dexterity. Controversy arises over the diagnosis, treatment, and evaluation of results. Nighttime splinting will improve the symptoms in some patients. If this fails, excellent results can be achieved with surgical decompression of the median nerve in the carpal canal. PMID:21221355

  17. Update: Toxic Shock Syndrome.

    ERIC Educational Resources Information Center

    Price, James H.

    1981-01-01

    School health professionals can help reduce the incidence of Toxic Shock Syndrome by suggesting that women not use tampons continuously during menses and that tampons should not be left in place for long periods of time. Tampons should be changed every few hours and used intermittently with pads. (JN)

  18. Prader-Willi Syndrome

    ERIC Educational Resources Information Center

    Kundert, Deborah King

    2008-01-01

    Although known for its distinctive food-related behaviors, Prader-Willi syndrome is a multisystem disorder with genetic, developmental, and behavioral features. Two separate and distinct eating disorders are noted: initial feeding difficulties and failure to thrive, and later overeating. Additional outcomes observed with this disorder include…

  19. Prader-Willi Syndrome

    ERIC Educational Resources Information Center

    Kundert, Deborah King

    2008-01-01

    Although known for its distinctive food-related behaviors, Prader-Willi syndrome is a multisystem disorder with genetic, developmental, and behavioral features. Two separate and distinct eating disorders are noted: initial feeding difficulties and failure to thrive, and later overeating. Additional outcomes observed with this disorder include…

  20. Doege-Potter Syndrome.

    PubMed

    Ahluwalia, N; Attia, R; Green, A; Cane, P; Routledge, T

    2015-10-01

    Doege-Potter syndrome is a rare paraneoplastic syndrome presenting as a hypoinsulinaemic hypoglycaemia from the ectopic secretion of a prohormone of insulin-like growth factor II (IGF-II) from a solitary fibrous tumour. Surgical resection is curative in the majority of cases. If, however, the diagnosis is not suspected and treatment is delayed, it can lead to hypoxic cerebral injury or death. The underlying tumour can be a benign or malignant pleural tumour but may be present in extrapleural sites. For a diagnosis of Doege-Potter syndrome, symptoms attributable to hypoglycaemia and low blood glucose levels should be present along with the secretion of prohormone IGF-II. We report a case of severe hypoglycaemia in a 76-year-old inpatient admitted for resection of a recurrent left-sided pleural tumour. Investigation revealed true hypoglycaemia and Doege-Potter syndrome was diagnosed. The tumour was completely resected and the patient made a full recovery with no further hypoglycaemic episodes. PMID:26414372

  1. Beckwith–Wiedemann syndrome

    PubMed Central

    Weksberg, Rosanna; Shuman, Cheryl; Beckwith, J Bruce

    2010-01-01

    Beckwith–Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted reproduction. PMID:19550435

  2. Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Barnett, Henry L.; And Others

    There is a growing body of evidence that Sudden Infant Death Syndrome (SIDS) victims are not completely normal and healthy, as was once believed. A variety of new information from several disciplines strongly suggests that the infant who dies suddenly and unexpectedly may do so because of subtle developmental, neurologic, cardiorespiratory, and…

  3. [Catastrophic antiphospholipid syndrome].

    PubMed

    Costedoat-Chalumeau, N; Arnaud, L; Saadoun, D; Chastre, J; Leroux, G; Cacoub, P; Amoura, Z; Piette, J-C

    2012-04-01

    The catastrophic antiphospholipid syndrome (CAPS) is a life-threatening condition resulting from rapidly progressive widespread thromboses mainly affecting the microvasculature in the presence of antiphospholipid antibodies. Within a few days, the patients develop multiorgan failure with pulmonary distress, renal failure with severe hypertension, cerebral, cardiac, digestive or cutaneous involvement. CAPS develops in less than 1% of patients with antiphospholipid syndrome, either primary or associated with systemic lupus erythematosus. CAPS reveals the antiphospholipid syndrome in about 50% of cases. CAPS may be precipitated by infectious diseases, surgical procedures or discontinuation of anticoagulation. CAPS overall mortality rate has decreased in the past decade and is now around 30%. Within our hospital, it has been reduced to 10%. The main differential diagnoses are other thrombotic microangiopathies, and heparin-induced thrombocytopenia. The treatment of CAPS consists of the empirical association of anticoagulation and corticosteroids, plus plasma exchange or intravenous immunoglobulins. Cyclophosphamide is added in patients with systemic lupus erythematosus. The prevention of CAPS is based upon the adequate management of the perioperative period when surgery cannot be avoided, the prompt treatment of infections and the education of patients with antiphospholipid syndrome. PMID:22341856

  4. Congenital nephrotic syndrome.

    PubMed

    Hamed, Radi Ma

    2003-01-01

    The congenital nephrotic syndrome (CNS) is an uncommon disorder with onset of the nephrotic syndrome usually in the first three months of life. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and/or uremia. A characteristic phenotype may be seen in children with CNS. The majority of reported cases of CNS are of the Finnish type (CNF). Although the role of the glomerular basement membrane has been emphasized as the barrier for retaining plasma proteins, recent studies have clearly shown that the slit diaphragm is the structure most likely to be the barrier in the glomerular capillary wall. The gene (NPHS1) was shown to encode a novel protein that was termed nephrin, due to its specific location in the kidney filter barrier, where it seems to form a highly organized filter structure. Nephrin is a transmembrane protein that probably forms the main building block of an isoporous zipper-like slit diaphragm filter structure. Defects in nephrin lead to the abnormal or absent slit diaphragm resulting in massive proteinuria and renal failure. PMID:17657104

  5. The Syndrome of Catatonia

    PubMed Central

    Wilcox, James Allen; Reid Duffy, Pam

    2015-01-01

    Catatonia is a psychomotor syndrome which has historically been associated with schizophrenia. Many clinicians have thought that the prevalence of this condition has been decreasing over the past few decades. This review reminds clinicians that catatonia is not exclusively associated with schizophrenia, and is still common in clinical practice. Many cases are related to affective disorders or are of an idiopathic nature. The illusion of reduced prevalence has been due to evolving diagnostic systems that failed to capture catatonic syndromes. This systemic error has remained unchallenged, and potentiated by the failure to perform adequate neurological evaluations and catatonia screening exams on psychiatric patients. We find that current data supports catatonic syndromes are still common, often severe and of modern clinical importance. Effective treatment is relatively easy and can greatly reduce organ failure associated with prolonged psychomotor symptoms. Prompt identification and treatment can produce a robust improvement in most cases. The ongoing prevalence of this syndrome requires that psychiatrists recognize catatonia and its presentations, the range of associated etiologies, and the import of timely treatment. PMID:26690229

  6. The Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Umbreit, John; Ostrow, Lisa S.

    1980-01-01

    Fetal alcohol syndrome is a pattern of altered growth and morphogenesis found in about half the offspring of severely and chronically alcoholic women who continue drinking throughout their pregnancy. Of children studied, mild to moderate mental retardation was the most common disorder, occurring in 44 percent of the cases. (PHR)

  7. Down Syndrome: Cognitive Phenotype

    ERIC Educational Resources Information Center

    Silverman, Wayne

    2007-01-01

    Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies…

  8. Munchausen syndrome and necrophilia.

    PubMed

    Faguet, R A

    1980-01-01

    Munchausen syndrome and necrophilia are uncommon disorders which do not appear to be related. It is suggested, however, that both of them center on "return to the womb" fantasies and may represent variants of each other. Specifically, the Munchausen patient's symptom triad (factitious illness, peregrination, pseudologia fantastica) is seen to reflect a wish for death and reunion with the maternal object. PMID:7466892

  9. Metabolic Syndrome (For Parents)

    MedlinePLUS

    ... engine trouble. Unfortunately, this concept is often a little harder for kids to grasp. They tend to live in the ... syndrome in kids and teens can be a little bit like trying to hit a moving target. That's because as kids' bodies change and grow, the cutoff numbers for ...

  10. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes.

    PubMed

    Cohen, M Michael

    2003-02-15

    Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes. PMID:12561058

  11. Vici syndrome: a review.

    PubMed

    Byrne, Susan; Dionisi-Vici, Carlo; Smith, Luke; Gautel, Mathias; Jungbluth, Heinz

    2016-01-01

    Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. Profound developmental delay, progressive failure to thrive and acquired microcephaly are almost universal, suggesting an evolving (neuro) degenerative component. In most patients there is additional variable multisystem involvement that may affect virtually any organ system, including lungs, thyroid, liver and kidneys. A skeletal myopathy is consistently associated, and characterized by marked fibre type disproportion, increase in internal nuclei, numerous vacuoles, abnormal mitochondria and glycogen storage. Life expectancy is markedly reduced.Vici syndrome is due to recessive mutations in EPG5 on chromosome 18q12.3, encoding ectopic P granules protein 5 (EPG5), a key autophagy regulator in higher organisms. Autophagy is a fundamental cellular degradative pathway conserved throughout evolution with important roles in the removal of defective proteins and organelles, defence against infections and adaptation to changing metabolic demands. Almost 40 EPG mutations have been identified to date, most of them truncating and private to individual families.The differential diagnosis of Vici syndrome includes a number of syndromes with overlapping clinical features, neurological and metabolic disorders with shared CNS abnormalities (in particular callosal agenesis), and primary neuromuscular disorders with a similar muscle biopsy appearance. Vici syndrome is also the most typical example of a novel group of inherited neurometabolic conditions, congenital disorders of autophagy.Management is currently largely supportive and symptomatic but better understanding of the underlying autophagy defect will hopefully inform the development of targeted therapies in future. PMID:26927810

  12. Childhood myelodysplastic syndrome.

    PubMed

    Chatterjee, Tathagata; Choudhry, V P

    2013-09-01

    Myelodysplastic syndrome (MDS) comprises of a heterogeneous group of bone marrow disorders resulting from a clonal stem cell defect characterised by cytopenias despite a relatively hypercellular marrow, ineffective hematopoiesis, morphological dysplasia in the marrow elements, no response to hematinics such as iron, B12 or folic acid and risk of progression to leukemia. Myelodysplastic syndrome in childhood is extremely rare and accounts for less than 5% of all hematopoietic neoplasms in children below the age of 14 y. The primary MDS in children, also known as de novo MDS differs from secondary MDS which generally follows congenital or acquired bone marrow (BM) failure syndromes as well as from therapy related MDS, commonly resulting from cytotoxic therapy. MDS associated with Down syndrome which accounts for approximately one-fourth of cases of childhood MDS is now considered a unique biologic entity synonymous with Down syndrome-related myeloid leukemia and is biologically distinct from other cases of childhood MDS. Refractory cytopenia of childhood (RCC) is the commonest type of MDS. Genetic changes predisposing to MDS in childhood remain largely obscure. Monosomy 7 is by-far the commonest cytogenetic abnormality associated with childhood MDS; however most cases of RCC show a normal karyotype. Complex cytogenetic abnormalities and trisomy 8 and trisomy 21 are also occasionally observed. The most effective and curative treatment is Hematopoietic stem cell transplantation and this is particularly effective in children with the monosomy 7 genetic defect as well as those displaying complex karyotype abnormalities provided it is instituted early in the course of the disease. PMID:23912822

  13. Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome.

    PubMed

    Agarwal, Rishi; Liebe, Sarah; Turski, Michelle L; Vidwans, Smruti J; Janku, Filip; Garrido-Laguna, Ignacio; Munoz, Javier; Schwab, Richard; Rodon, Jordi; Kurzrock, Razelle; Subbiah, Vivek

    2015-02-01

    Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome are cancer syndromes which affect multiple organs and lead to significant decline in quality of life in affected patients. These syndromes are rare and typically affect the adolescent and young adult population, resulting in greater cumulative years of life lost. Improved understanding of the underpinnings of the genetic pathways underlying these syndromes and the rapid evolution of targeted therapies in general have made it possible to develop therapeutic options for these patients and other genetic cancer syndromes. Targeted therapies especially antiangiogenics and inhibitors of the PIK3CA/AKT/mTOR signaling pathway have shown activity in selected group of patients affected by these syndromes or in patients harboring specific sporadic mutations which are otherwise characteristic of these syndromes. Unfortunately due to the rare nature, patients with these syndromes are not the focus of clinical trials and unique results seen in these patients can easily go unnoticed. Most of the data suggesting benefits of targeted therapies are either case reports or small case series. Thus, a literature review was indicated. In this review we explore the use of molecularly targeted therapy options in Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome. PMID:25725225

  14. LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci

    SciTech Connect

    Rass-Rothchild, A.: Abeliovitch, D.; Kornstein, A. |

    1994-09-01

    The acronym LEOPARD stands for a syndromic association of Lentigines, Eletrocardiographic changes, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. Inheritance is autosomal dominant with high penetrance and variable expressivity. In 1990 Torok et al. reported on the association of LEOPARD and Marfan syndrome. In addition a clinical similarity (cardiac and cutaneous involvement) exists with the Watson syndrome (neurofibromatosis and pulmonic stenosis) which is linked to the marker D17S33 on chromosome 17. We studied possible linkage of LEOPARD syndrome to the Marfan syndrome locus on chromosome 15 (D15S1, MF13, and (TAAAA)n repeats) and to the NF-1 locus on chromosome 17 in a family with 9 cases of LEOPARD syndrome. Close linkage between LEOPARD syndrome and both the Marfan locus on chromosome 15 and the NF-1 locus on chromosome 17 was excluded (lod score <-2.0 through {theta} = 0.1).

  15. Syndromic diarrhea/Tricho-hepato-enteric syndrome.

    PubMed

    Fabre, Alexandre; Martinez-Vinson, Christine; Goulet, Olivier; Badens, Catherine

    2013-01-01

    Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. The aetiology is a defect in TTC37, a TPR containing protein, or in the RNA helicase SKIV2L, both constituting the putative human ski complex. The ski complex is a heterotetrameric cofactor of the cytoplasmic RNA exosome which ensures aberrants mRNAs decay. The diagnosis SD/THE is initially based on clinical findings and confirmed by direct sequencing of TTC37 and SKIV2L. Differential diagnosis with the other causes of intractable diarrhea is easily performed by pathologic investigations. During their clinical course, most of the children require parenteral nutrition and often immunoglobulin supplementation. With time, some of them can be weaned off parenteral nutrition and immunoglobulin supplementation. The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. Mild mental retardation is observed in half of the cases. PMID:23302111

  16. Genetics of the metabolic syndrome.

    PubMed

    Groop, L

    2000-03-01

    The clustering of cardiovascular risk factors such as abdominal obesity, hypertension, dyslipidaemia and glucose intolerance in the same persons has been called the metabolic or insulin-resistance syndrome. In 1998 WHO proposed a unifying definition for the syndrome and chose to call it the metabolic syndrome rather than the insulin-resistance syndrome. Although insulin resistance has been considered as a common denominator for the different components of the syndrome, there is still debate as to whether it is pathogenically involved in all of the different components of the syndrome. Clustering of the syndrome in families suggests a genetic component. It is plausible that so-called thrifty genes, which have ensured optimal storage of energy during periods of fasting, could contribute to the phenotype of the metabolic syndrome. Common variants in a number of candidate genes influencing fat and glucose metabolism can probably, together with environmental triggers, increase susceptibility to the syndrome. Among these, the genes for beta 3-adrenergic receptor, hormone-sensitive lipase, lipoprotein lipase, IRS-1, PC-1, skeletal muscle glycogen synthase, etc. appear to increase the risk of the metabolic syndrome. In addition, novel genes may be identified by genome-wide searches. PMID:10889791

  17. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    PubMed

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. PMID:25983069

  18. Polycystic ovary syndrome and metabolic syndrome: the worrisome twosome?

    PubMed

    Shah, D; Rasool, S

    2016-02-01

    By virtue of insulin resistance being the common etiology for polycystic ovary syndrome (PCOS) and metabolic syndrome, the cardiometabolic risks of these two syndromes are shared. The usual concerns of a PCOS patient are cosmetic or reproductive. However, there are more serious concerns past the reproductive age. Early treatment of insulin resistance, hypertension and hyperlipidemia reduces the long-term risk. This review highlights the unhealthy association of metabolic syndrome with PCOS and emphasizes the importance of early diagnosis, patient education and long-term follow-up beyond the reproductive age into menopause to prevent the long-term serious co-morbidities. PMID:26624567

  19. Compartment Syndrome of the Calf Due to Nicolau Syndrome

    PubMed Central

    Enshaei, Ali; Afshar, Ahmadreza

    2016-01-01

    We report a case of Nicolau syndrome in a 15 months old girl following an intramuscular injection of penicillin 6.3.3 in her left buttock. This case is unique because she developed compartment syndrome in her left calf far from her injection site. Her toe’s tips gangrened in the course of her ailment. We hypothesized that the compartment syndrome might be produced by a probable intra-arterial injection that had produced embolic obstruction of the small and medium size arteries in her leg or a probable perineural or periarteial injection had produced secondary sympathetic stimulation, extensive vasospasm, compromised microcirculation and the development of compartment syndrome. PMID:26894227

  20. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    PubMed

    Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment. PMID:24552422

  1. [Recovery of Cushing syndrome revealing McCune-Albright syndrome].

    PubMed

    Halioui-Louhaichi, S; Dridi, Y; Azzabi, O; Selmi, I; Fetni, I; Siala, N; Maherzi, A

    2016-01-01

    Cushing syndrome (CS) is a rare feature of McCune-Albright syndrome. Treatments consist of bilateral adrenalectomy followed by lifelong glucocorticoid and mineralocorticoid treatment. However, cases of spontaneous remission of CS have been reported in the literature. We report a case of McCune-Albright syndrome with CS treated with metyrapone for 30 months with prolonged remission after a 12-year follow-up. Adrenalectomy may be avoided in some cases of CS caused by McCune-Albright syndrome. Metyrapone could be a good alternative to surgical treatment. PMID:26552628

  2. INSIGHTS INTO BRAIN DEVELOPMENT FROM NEUROGENETIC SYNDROMES: EVIDENCE FROM FRAGILE X SYNDROME, WILLIAMS SYNDROME, TURNER SYNDROME AND VELOCARDIOFACIAL SYNDROME

    PubMed Central

    Walter, Elizabeth; Mazaika, Paul; Reiss, Allan

    2009-01-01

    Over the past few decades, behavioral, neuroimaging and molecular studies of neurogenetic conditions, such as Williams, fragile X, Turner and velocardiofacial (22q11.2 deletion) syndromes, have led to important insights regarding brain development. These investigations allow researchers to examine “experiments of nature” in which the deletion or alteration of one gene or a contiguous set of genes can be linked to aberrant brain structure or function. Converging evidence across multiple imaging modalities has now begun to highlight the abnormal neural circuitry characterizing many individual neurogenetic syndromes. Furthermore, there has been renewed interest in combining analyses across neurogenetic conditions in order to search for common organizing principles in development. In this review, we highlight converging evidence across syndromes from multiple neuroimaging modalities, with a particular emphasis on functional imaging. In addition, we discuss the commonalities and differences pertaining to selective deficits in visuospatial processing that occur across four neurogenetic syndromes. We suggest avenues for future exploration, with the goal of achieving a deeper understanding of the neural abnormalities in these affected populations. PMID:19376197

  3. Epilepsy in Angelman syndrome.

    PubMed

    Pelc, Karine; Boyd, Stewart G; Cheron, Guy; Dan, Bernard

    2008-04-01

    Angelman syndrome is a neurogenetic disorder caused by lack of UBE3A gene expression from the maternally inherited chromosome 15 due to various 15q11-q13 abnormalities. In addition to severe developmental delay, virtual absence of speech, motor impairment, a behavioural phenotype that includes happy demeanor, and distinctive rhythmic electroencephalographic features, over 90% of patients have epilepsy. Many different seizure types may occur, atypical absences and myoclonic seizures being particularly prevalent. Non-convulsive status epilepticus is common, sometimes in the context of the epileptic syndrome referred to as myoclonic status in non-progressive encephalopathies. Epilepsy predominates in childhood, but may persist or reappear in adulthood. Management is difficult in a proportion of patients. It might be improved by better understanding of pathophysiology. Current hypotheses involve abnormal inhibitory transmission due to impaired regulation of GABAA receptors related to functional absence of UBE3A and abnormal hippocampal CaMKII activity. PMID:17904873

  4. Therapy of autoinflammatory syndromes

    PubMed Central

    Hoffman, Hal M.

    2015-01-01

    The therapy of autoinflammatory syndromes is an excellent example of the power of translational research. Recent advances in our understanding of the molecular and immunologic basis of this newly identified classification of disease have allowed for the application of novel, effective, targeted treatments with life-changing effects on patients. Although colchicine and TNF-? inhibitors are important therapies for specific autoinflammatory syndromes, the novel IL-1–targeted drugs are particularly effective for many of these diseases. Recently, the pharmaceutical industry has adopted a strategy of confirming the efficacy of new targeted drugs in often-ignored patients with orphan diseases, and US Food and Drug Administration policies have allowed for accelerated approval of these drugs, creating a win-win situation for patients and industry. This article reviews the general approach to the therapy of autoinflammatory diseases, focusing on current approved therapies and novel approaches that might be used in the future. PMID:20004774

  5. Congenital Short QT Syndrome

    PubMed Central

    Crotti, Lia; Taravelli, Erika; Girardengo, Giulia; Schwartz, Peter J

    2010-01-01

    The Short QT Syndrome is a recently described new genetic disorder, characterized by abnormally short QT interval, paroxysmal atrial fibrillation and life threatening ventricular arrhythmias. This autosomal dominant syndrome can afflict infants, children, or young adults; often a remarkable family background of cardiac sudden death is elucidated. At electrophysiological study, short atrial and ventricular refractory periods are found, with atrial fibrillation and polymorphic ventricular tachycardia easily induced by programmed electrical stimulation. Gain of function mutations in three genes encoding K+ channels have been identified, explaining the abbreviated repolarization seen in this condition: KCNH2 for Ikr (SQT1), KCNQ1 for Iks (SQT2) and KCNJ2 for Ik1 (SQT3). The currently suggested therapeutic strategy is an ICD implantation, although many concerns exist for asymptomatic patients, especially in pediatric age. Pharmacological treatment is still under evaluation; quinidine has shown to prolong QT and reduce the inducibility of ventricular arrhythmias, but awaits additional confirmatory clinical data. PMID:20126594

  6. Lennox-Gastaut syndrome

    PubMed Central

    Al-Banji, Muradi H.; Zahr, Doaa K.; Jan, Mohammed M.

    2015-01-01

    Lennox-Gastaut syndrome (LGS) is a severe pediatric epilepsy syndrome characterized by mixed seizures, cognitive decline, and generalized slow (<3Hz) spike wave discharges on electroencephalography. Atonic seizures result in dangerous drop attacks with risks of injury and impairment of the quality of life. The seizures are frequently resistant to multiple antiepileptic (AED) drugs. Newer AEDs, such as rufinamide, are now available. When multiple AED trials fail, non-pharmacological treatments such as the ketogenic diet, vagus nerve stimulation, and epilepsy surgery, should be considered. The aim of this review is to present an updated outline of LGS and the available treatments. Although the prognosis for complete seizure control remains poor, the addition of newer therapies provides an improved hope for some of these patients and their families. Further long term randomized controlled trials are required to compare different therapeutic interventions in terms of efficacy and tolerability. PMID:26166587

  7. The cone dysfunction syndromes

    PubMed Central

    Aboshiha, Jonathan; Dubis, Adam M; Hardcastle, Alison J; Michaelides, Michel

    2016-01-01

    The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision and varying degrees of colour vision abnormalities, nystagmus and photophobia. This review details the following conditions: complete and incomplete achromatopsia, blue-cone monochromatism, oligocone trichromacy, bradyopsia and Bornholm eye disease. We describe the clinical, psychophysical, electrophysiological and imaging findings that are characteristic to each condition in order to aid their accurate diagnosis, as well as highlight some classically held notions about these diseases that have come to be challenged over the recent years. The latest data regarding the genetic aetiology and pathological changes observed in the cone dysfunction syndromes are discussed, and, where relevant, translational avenues of research, including completed and anticipated interventional clinical trials, for some of the diseases described herein will be presented. Finally, we briefly review the current management of these disorders. PMID:25770143

  8. "SAPHO syndrome and infections".

    PubMed

    Govoni, Marcello; Colina, Matteo; Massara, Alfonso; Trotta, Francesco

    2009-01-01

    The syndrome of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) encompasses a broad spectrum of cutaneous manifestations associated with osteitic and hyperostotic lesions, which typically may involve the anterior chest wall (ACW). The aetiopathogenetic mechanisms as well as the nosographic framing of the disease are still not fully defined although an important role has been suggested for Propionibacterium acnes (P. acnes). This germ might be able to stimulate both the innate and the T-cell-mediated immune system. The elicited immunological response could be an attempt to eliminate the germ thus inducing the perpetuation of the inflammation. Whether the osteo-articular changes seen in SAPHO could be attributable directly to the infection or to an inflammatory reaction induced by pathogenic material remains a debated issue. The current concept of SAPHO syndrome as a reactive infectious osteitis in genetic predisposed subjects seems appealing, but it has not been yet demonstrated. PMID:18721907

  9. Chronic Exertional Compartment Syndrome.

    PubMed

    Braver, Richard T

    2016-04-01

    Increased tissue pressure within a fascial compartment may be the result from any increase in volume within its contents, or any decrease in size of the fascial covering or its distensibility. This may lead to symptoms of leg tightness, pain or numbness brought about by exercise. There are multiple differential diagnoses of exercise induced leg pain and the proper diagnoses of chronic exertional compartment syndrome (CECS) is made by a careful history and by exclusion of other maladies and confirmed by compartment syndrome testing as detailed in this text. Surgical fasciotomies for the anterior, lateral, superficial and deep posterior compartments are described in detail along with ancillary procedures for chronic shin splints that should allow the athlete to return to competitive activity. PMID:27013413

  10. Meningitis-Retention Syndrome.

    PubMed

    Basoulis, Dimitrios; Mylona, Maria; Toskas, Pantelis; Tsilingiris, Dimitris; Fytili, Christina

    2015-09-01

    Meningitis-retention syndrome (MRS) is a clinical entity that has recently appeared in the literature. We present the case of a 22-year-old man with fever and headache who, in the course of his hospitalization with a diagnosis of aseptic meningitis, developed acute urinary retention. Fewer than 30 such cases have been described and in several of them, no clear associations with other disorders have been made. In some cases, direct association with viral infection has been proved, and in others, there are indications of an underlying demyelinating condition. To further complicate the issue, various conditions such as Elsberg syndrome and acute disseminated encephalomyelitis, which not only have some similarities but also have some distinct differences, have been placed under the umbrella definition of MRS. In our review, we attempt to address these conditions and better define MRS by establishing diagnostic criteria based on what has thus far been described in the literature. PMID:26620904

  11. The cone dysfunction syndromes.

    PubMed

    Aboshiha, Jonathan; Dubis, Adam M; Carroll, Joseph; Hardcastle, Alison J; Michaelides, Michel

    2016-01-01

    The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision and varying degrees of colour vision abnormalities, nystagmus and photophobia. This review details the following conditions: complete and incomplete achromatopsia, blue-cone monochromatism, oligocone trichromacy, bradyopsia and Bornholm eye disease. We describe the clinical, psychophysical, electrophysiological and imaging findings that are characteristic to each condition in order to aid their accurate diagnosis, as well as highlight some classically held notions about these diseases that have come to be challenged over the recent years. The latest data regarding the genetic aetiology and pathological changes observed in the cone dysfunction syndromes are discussed, and, where relevant, translational avenues of research, including completed and anticipated interventional clinical trials, for some of the diseases described herein will be presented. Finally, we briefly review the current management of these disorders. PMID:25770143

  12. Sturge - Weber syndrome.

    PubMed

    Kumar, V; Prasad, B K

    2004-01-01

    Sturge - Weber syndrome (SWS) is a rare disorder that occur with a frequency of approximately 1 per 50,0001. It isa neurocutaneous syndrome, characterized by a facial vascular birthmark and neurological abnormalities. The hallmark is intracranial vascular angioma, most often involving the occipital and posterior parietal lobes, but it can also affect the other cortical regions. An ipsilateral facial cutaneous vascular malformation (port wine nevus)usually affects the upper face. Other clinical findings associated with SWS are seizures, glaucoma, hemiparesis,mental retardation and delayed developmental milestones. This article reports a case of 8 years old boy who presented with weakness of right half of body since birth, mental retardation and delayed developmental milestones. Clinical examination revealed deep purple nevus on left lower face, and less power of left upper & lower limbs.X-ray skull showed calcification. C.T. Scan of brain revealed curvilinear calcification with focal atrophy. PMID:16388255

  13. Postconcussion Syndrome: A Review.

    PubMed

    Barlow, Karen M

    2016-01-01

    Postconcussion syndrome is a symptom complex with a wide range of somatic, cognitive, sleep, and affective features, and is the most common consequence of traumatic brain injury. Between 14% and 29% of children with mild traumatic brain injury will continue to have postconcussion symptoms at 3 months, but the pathophysiological mechanisms driving this is poorly understood. The relative contribution of injury factors to postconcussion syndrome decreases over time and, instead, premorbid factors become important predictors of symptom persistence by 3 to 6 months postinjury. The differential diagnoses include headache disorder, cervical injury, anxiety, depression, somatization, vestibular dysfunction, and visual dysfunction. The long-term outcome for most children is good, although there is significant morbidity in the short term. Management strategies target problematic symptoms such as headaches, sleep and mood disturbances, and cognitive complaints. PMID:25330797

  14. [Treatment of tardive syndromes].

    PubMed

    Horváth, Krisztina; Aschermann, Zsuzsanna; Komoly, Sámuel; Kovács, Attila; Kovács, Norbert

    2014-01-01

    Tardive syndromes associated with dopamine-receptor blocking agents have heterogeneous appearance. The treatment of tardive dyskinesia, dystonia, myoclonus, tourettism, tremor and akathisia is challenging for both psychiatrists and neurologists. Lack of randomized and controlled examinations for many routinely applied clinical therapeutic options make the development of clinical guidelines difficult. The present review article summarizes the available evidence for the treatment of tardive syndromes. According to the treatment guideline published by the American Academy of Neurology in 2013, the usage of clonazepam, ginkgo biloba, amantadine and tetrabenazine has enough evidence to draw conclusions. Although lowering or stopping the eliciting agent, changing to atypical antipsychotics, and adding anticholinergics are widely used techniques, there are no convincing controlled studies available to support their efficacy. The usage of Vitamin E, levetiracetam, propranolol, botulinum toxin and deep brain stimulation may be promising treatment options in the future. PMID:25041749

  15. Deep gluteal syndrome

    PubMed Central

    Martin, Hal David; Reddy, Manoj; Gómez-Hoyos, Juan

    2015-01-01

    Deep gluteal syndrome describes the presence of pain in the buttock caused from non-discogenic and extrapelvic entrapment of the sciatic nerve. Several structures can be involved in sciatic nerve entrapment within the gluteal space. A comprehensive history and physical examination can orientate the specific site where the sciatic nerve is entrapped, as well as several radiological signs that support the suspected diagnosis. Failure to identify the cause of pain in a timely manner can increase pain perception, and affect mental control, patient hope and consequently quality of life. This review presents a comprehensive approach to the patient with deep gluteal syndrome in order to improve the understanding of posterior hip anatomy, nerve kinematics, clinical manifestations, imaging findings, differential diagnosis and treatment considerations. PMID:27011826

  16. Elejalde syndrome (ES).

    PubMed

    Mohammadzadeh Shanehsaz, Siavash; Rezazadeh, Azadeh; Dandashli, Anwar

    2015-03-01

    Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome) characterize this rare autosomal recessive syndrome. The main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement. Large granules of melanin unevenly distributed in the hair shaft are observed. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present. We report a 10-year-old girl with silver-leaden (silvery) hair, bronze skin color on sun-exposed areas, generalized hypopigmentation of covered body parts, and congenital seizures. The child was the elder of two children born of a consanguineous marriage. The younger sibling, a female neonate, had the same clinical presentation. PMID:25780981

  17. Juvenile polyposis syndrome

    PubMed Central

    Cichy, Wojciech; Klincewicz, Beata

    2014-01-01

    Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with family history and, in the case of juvenile polyps, their occurrence also outside the large intestine. The JPS is caused by mutations in SMAD4 and BMPR1A. Products of the SMAD4 gene are involved in signal transduction in the transforming growth factor ? pathway and BMPR1A protein is a receptor belonging to the family of transmembrane serine/threonine kinases. Both proteins are responsible for processes determining appropriate development of colonic mucosa. The JPS belongs to the group of hamartomatous polyposes. The hamartomatous polyposis syndromes constitute a group of diseases in which manifestations differ slightly and only molecular diagnostics gives the possibility of verifying the clinical diagnosis. PMID:25097590

  18. Meningitis-Retention Syndrome

    PubMed Central

    Basoulis, Dimitrios; Mylona, Maria; Toskas, Pantelis; Tsilingiris, Dimitris; Fytili, Christina

    2015-01-01

    Meningitis-retention syndrome (MRS) is a clinical entity that has recently appeared in the literature. We present the case of a 22-year-old man with fever and headache who, in the course of his hospitalization with a diagnosis of aseptic meningitis, developed acute urinary retention. Fewer than 30 such cases have been described and in several of them, no clear associations with other disorders have been made. In some cases, direct association with viral infection has been proved, and in others, there are indications of an underlying demyelinating condition. To further complicate the issue, various conditions such as Elsberg syndrome and acute disseminated encephalomyelitis, which not only have some similarities but also have some distinct differences, have been placed under the umbrella definition of MRS. In our review, we attempt to address these conditions and better define MRS by establishing diagnostic criteria based on what has thus far been described in the literature. PMID:26620904

  19. Marfan’s syndrome

    PubMed Central

    Judge, Daniel P; Dietz, Harry C

    2006-01-01

    Marfan’s syndrome is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-bone overgrowth. Important advances have been made in the diagnosis and medical and surgical care of affected individuals, yet substantial morbidity and premature mortality remain associated with this disorder. Progress has been made with genetically defined mouse models to elucidate the pathogenetic sequence that is initiated by fibrillin-1 deficiency. The new understanding is that many aspects of the disease are caused by altered regulation of transforming growth factor ? (TGF?), a family of cytokines that affect cellular performance, highlighting the potential therapeutic application of TGF ? antagonists. Insights derived from studying this mendelian disorder are anticipated to have relevance for more common and non-syndromic presentations of selected aspects of the Marfan phenotype. PMID:16325700

  20. Prader-Willi syndrome.

    PubMed Central

    Cassidy, S B

    1997-01-01

    Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of proximal 15q and results from absence of the normally active paternal genes in this region. Such absence results from paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process. Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause. Images PMID:9391886