Items tagged “syndrome”

259 results found
Article

Oscillopsia

Oscillopsia (also known as Dandy syndrome or jumbling of the panorama) is the inability to maintain horizon while walking, and for many is an extremely unpleasant sensation. Since our heads bob up and down while walking, the otolithic system controls eye movement to maintain a constant horizon ...
Article

Non-steroidal anti-inflammatory drug exacerbated respiratory disease

Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory disease refers to the clinical constellation of 1,2: hypersensitivity to aspirin (and other NSAIDs) nasal polyposis / rhinosinusitis asthma Terminology Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory d...
Article

Rett syndrome

Rett syndrome is a rare neurodegenerative disease seen in young girls in the 2nd to 4th months of life. The majority of cases result from a mutation in the MECP2 gene; a more severe subset of the disease arises from a CDKL5 mutation 1. Clinical presentation Following a period of normal develop...
Article

Dyke-Davidoff-Masson syndrome

Dyke-Davidoff-Masson syndrome is a condition characterized by hemicerebral atrophy/hypoplasia secondary to brain insult usually in fetal or early childhood period and is accompanied by ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis. It is characterized by: thickenin...
Article

Eosinophilia myalgia syndrome

Eosinophilia myalgia syndrome (EMS) is a fatal neurological condition caused by ingestion of improperly manufactured L-tryptophan. Impurities and/or metabolites that block histamine degradation result in peripheral blood eosinophilia and myalgia.  In the brain, cortical and basal ganglia atroph...
Article

Holt-Oram syndrome

Holt-Oram syndrome (HOS), also known as heart-hand syndrome, is an autosomal dominant syndrome that results in congenital heart defects and upper limb anomalies:  congenital heart defects  atrial septal defect (ASD) (commonest cardiac defect 4) ventricular septal defect (VSD) aortic coarctat...
Case

Superior mesenteric artery syndrome

  Diagnosis probable
Charudutt Jayant Sambhaji
Published 19 Oct 2009
59% complete
CT
Article

Horner syndrome

Horner syndrome classically presents as an ipsilateral enophthalmos, blepharoptosis, pupillary miosis and facial anhidrosis due to disruption at some point of the oculosympathetic pathway. Ptosis is due to interruption of the sympathetic motor innervation of the superior tarsal muscle which is ...
Article

Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is an extremely rare clinically heterogeneous developmental disorder of unknown etiology. Although the described clinical symptomatology is very broad, the majority of cases include growth impairment, learning disability and dysmorphic facies. Epidemiology The...
Article

WAGR syndrome

WAGR syndrome or complex stands for: Wilms tumors (greatly increased risk) aniridia genitourinary anomalies intellectual disability Pathology Genetics Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.
Article

Morning glory syndrome (eye)

Morning glory disc anomaly (MGDA), also known as morning glory syndrome, is a rare congenital malformation of the optic nerve which is frequently associated with midline abnormalities of the brain and skull 1. Epidemiology Morning glory disc anomaly is rare and is more commonly found in female...
Article

Drash syndrome

Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumor gene) and consists of: Wilms tumor male pseudohermaphroditism progressive glomerulonephritis
Article

Fitz-Hugh-Curtis syndrome

Fitz-Hugh-Curtis syndrome (FHCS), or perihepatitis, is the inflammation of the liver capsule and overlying peritoneum associated with adhesion formation, without the involvement of the hepatic parenchyma. It is a chronic complication of pelvic inflammatory disease (PID). Epidemiology The preva...
Article

COACH syndrome

The acronym COACH describes a syndrome associated with: C: cerebellar vermis defect (Joubert syndrome) O: oligophrenia A: ataxia C: coloboma H: hepatic fibrosis Epidemiology COACH syndrome is considered extremely rare. Associations The association with infantile polycystic kidney diseas...
Article

Feingold syndrome

Feingold syndrome is characterized by the combination of: microcephaly digital abnormalities alimentary tract atresias especially esophageal atresia
Article

18q deletion syndrome

18q deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial, and dist...
Case

18q syndrome

  Diagnosis almost certain
Frank Gaillard
Published 24 Jan 2010
62% complete
MRI
Article

Hutchinson syndrome

Hutchinson syndrome is a seldom-used term to denote a syndromic presentation of children with craniocerebral neuroblastoma metastases. Terminology Unfortunately, there is a lack of consensus in the definition with two descriptions most commonly encountered in the literature: limping and irrit...
Case

Fitz-Hugh-Curtis syndrome

  Diagnosis possible
Dr Ruslan Asadov
Published 27 Feb 2010
50% complete
CT
Article

Poland-Möbius syndrome

Poland-Möbius syndrome, is the combination of Möbius syndrome and Poland syndrome, which although very rare, has been well described 1.  History and etymology Sir Alfred Poland (1822-1872): English surgeon 2 Paul Julius Möbius (1853-1907): German neurologist 3