Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with
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CASE REPORT
Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report Cristiano Parisi 1 & Santiago Candela-Cantó 2,3 & Mercedes Serrano 4,5 & Albert Catala 6 & Javier Aparicio 3,4,5 & José Hinojosa 2,3 Received: 31 January 2020 / Accepted: 27 February 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract 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. Keywords CHD2 myoclonic encephalopathy . Epilepsy . Hemophagocytic lymphohistiocytosis immune dysregulation . Vagus nerve stimulation
Introduction The only treatments available for patients with generalized drug-resistant epilepsy are palliative, like vagus nerve stimulation (VNS). Although VNS is generally a safe procedure, complications can occur and surgical wound infection has been reported in
* Cristiano Parisi [email protected] 1
Neurosurgery Unit, Neuroscience Department, Azienda Ospedaliera Universitaria Integrata, Verona, Italy
2
Pediatric Neurosurgery Department, Sant Joan de Déu Barcelona Children’s Hospital, Universitat de Barcelona, Barcelona, Spain
3
Pediatric Epilepsy Surgery Unit, Sant Joan de Déu Barcelona Children’s Hospital, Universitat de Barcelona, Barcelona, Spain
4
Neurology Department, Sant Joan de Déu Barcelona Children’s Hospital, Universitat de Barcelona, Barcelona, Spain
5
U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain
6
Department of Hematology, Institut de Recerca Hospital Sant Joan de Déu Barcelona Children’s Hospital, Universitat de Barcelona, Barcelona, Spain
around 3% of cases in large clinical series [1–4], occasionally evolving to sepsis. Besides this, secondary hemophagocyticlymphohistiocytosis (SHLH) is a very rare syndrome which can be triggered by inflammatory processes, such bacterial infections [5]. In this publication, we report the case of a patient with a rare myoclonic encephalopathy caused by deletion of CHD2 (OMIM no. 615369) that developed into a SHLH after surgical wound infection of a VNS device. She also harbors Bloom gene deletion (BLM gene, OMIM no. 604610). There is emerging evidence that CHD2 and BLM mutations lead to immune dysregulations, so we hypothesize that the genetic anomalies of this patient may have played a critical role in the development of HLH syndrome.
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