Epilepsy in Kostmann syndrome: report of a case and review of the literature

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. …