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:C0028738 (
nystagmus
)
7,431
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 4-year-old girl was hospitalized for psychomotor delay, low vision, and horizontal
nystagmus
. She was found to have bilateral chorioretinal atrophic scars and 2 large occipital porencephalic cavities. High plasma ornithine levels led to the presumed diagnosis of
gyrate atrophy
of the choroid and retina. After 6 months of arginine-restricted diet and high-dose pyridoxine (300 mg/d), there was no change of plasma ornithine level or ocular findings. To our knowledge, this is the first report showing an association of porencephaly with
gyrate atrophy
of the choroid and retina.
...
PMID:Occipital porencephaly in a child with gyrate atrophy of the choroid and retina. 2103 79
