Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0033377 (
prolapse
)
11,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 5-year-old boy who presented with progressive ataxia, neuroregression, and worsening with febrile illnesses is described. He also had myoclonic jerks and
ptosis
. His elder sister had died of a similar illness. Serial magnetic resonance imaging of the brain demonstrated extensive abnormality of the cerebral white matter with rarefaction and cystic degeneration, suggestive of vanishing white matter disease. The patient was found to be compound heterozygous for 2 new mutations in the gene
EIF2B5
, confirming the diagnosis.
...
PMID:Vanishing white matter disease associated with ptosis and myoclonic seizures. 2111 45
