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:C0085584 (
encephalopathy
)
18,178
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Vagus nerve stimulation (VNS) is a surgical treatment available for patients affected by generalized refractory epilepsy. The authors report the case of a 15-year-old girl affected by CHD2-related myoclonic
encephalopathy
and
BLM
haploinsufficiency due to a deletion of 15q25.3q26.2 region, who suffered from secondary hemophagocytic lymphohistiocytosis (SHLH) after a VNS wound infection. SHLH has sporadically been described in epileptic patients. Based on indirect evidence that shows immune dysregulation in patients with CHD2 mutations and
BLM
mutations, we hypothesize that the genetic background of this patient may have played a critical role in the development of the syndrome.
...
PMID:Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report. 3217 Apr 5
