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:C0025362 (
mental retardation
)
15,878
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
CINCA syndrome
is an autoinflammatory disease in childhood characterized by multisystemic manifestations: cutaneous, articular, and neurological including sensory organs. We report the case of homozygous twins affected by
CINCA syndrome
. The diagnosis was evoked on the basis of multiple systemic symptoms (multiple episodes of fever of unknown origin,
mental retardation
, short stature, meningitis, hearing loss, bilateral papilledema) and confirmed by the presence of a CIAS1 mutation on genetic analysis. After few months of treatment by anakinra (an interleukin-1 receptor antagonist) the children began to grow again and we noted regression of the biological inflammatory syndrome.
...
PMID:[CINCA syndrome: a rare cause of papilledema. The case of homozygous twins]. 2000 4
