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:C0032285 (
pneumonia
)
54,520
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Primary erythermalgia is a rare neuropathy characterized by attacks of burning pain and redness in the extremities in response to warm stimuli. We describe here a boy with erythermalgia whose painful attacks began in infancy. We found a novel mutation of
SCN9A
, which is a responsible gene for primary erythermalgia in this case. In his teens, he developed wintry hypothermia with resultant neurological dysfunction and recurrent pneumonia. During the course of
pneumonia
, he had transient encephalopaty with a reversible lesion in the splenium of the corpus callosum. In addition to excessive cooling, a defect in central thermoregulation may have caused hypothermia in this patient.
...
PMID:A case of primary erythermalgia, wintry hypothermia and encephalopathy. 1798 68
