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:C0023380 (
lethargy
)
5,697
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 4-week-old child presented with
lethargy
, emesis, decreased spontaneous movements, and a bulging fontanelle. Neuroimaging demonstrated a large, hemispheric, multicystic lesion with multiple enhancing nodules, which, on pathological examination, proved to be multiple, distinct hemangioblastomas. Careful molecular analysis failed to reveal alterations of the
VHL
gene. This represents an uncommon presentation for these tumors and suggests that genes other than
VHL
may be important in the genesis of these tumors.
...
PMID:Congenital cystic hemangioblastomas of the cerebral hemisphere in a neonate without alteration in the VHL gene. 1536 2
