Items tagged “syndrome”
264 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) 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 coarctation
upper limb...
Case
Superior mesenteric artery syndrome
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
The WAGR syndrome or complex stands for:
Wilms tumors (greatly increased risk)
aniridia
genitourinary anomalies
intellectual retardation (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
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
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