Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report.
CHD2 myoclonic encephalopathy
Epilepsy
Hemophagocytic lymphohistiocytosis immune dysregulation
Vagus nerve stimulation
Journal
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
ISSN: 1433-0350
Titre abrégé: Childs Nerv Syst
Pays: Germany
ID NLM: 8503227
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
31
01
2020
accepted:
27
02
2020
pubmed:
15
3
2020
medline:
22
6
2021
entrez:
15
3
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32170405
doi: 10.1007/s00381-020-04558-x
pii: 10.1007/s00381-020-04558-x
doi:
Substances chimiques
CHD2 protein, human
0
DNA-Binding Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM