Erschienen in:
01.09.2016 | Letter to the Editor
Epilepsy in Kostmann syndrome: report of a case and review of the literature
verfasst von:
A. Bartocci, D. Laino, G. Di Cara, A. Verrotti
Erschienen in:
Acta Neurologica Belgica
|
Ausgabe 3/2016
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Excerpt
Severe congenital neutropenia, also defined as Kostmann syndrome, is a rare primary immunodeficiency, with an estimated frequency of 1–2 cases per 1,000,000 population [
1], characterized by the lack of mature neutrophils and frequent bacterial infections in affected patients [
2]. Affected patients present myeloid hypoplasia with arrest of myelopoiesis at the promyelocyte/myelocyte stage [
1]. More recent studies have identified several mutations in the gene encoding the anti-apoptotic HCLS-1-associated protein X1 (
HAX1) in subjects with the autosomal recessive form of the syndrome [
2].
HAX1 is a ubiquitously expressed mitochondrial protein with an important role in the stabilization of the mitochondrial membrane potential, and its deficiency causes increased myeloid cell apoptosis [
2]. Some patients with Kostmann syndrome present neurological symptoms, including cognitive impairment, severe neurodegeneration and epilepsy [
3]. In literature, few cases of epilepsy in Kostmann syndrome have been reported, and clinical and EEG characteristics of these patients have been often poorly defined [
4]. We report here the case of a child affected by this syndrome and carrier of
HAX1 deficiency who developed mental delay and epilepsy; we reviewed all cases reported in literature to better define the peculiar aspects of the seizures in this syndrome. …