OP-106 Early onset epilepsy with STAMBP gene defect in two brothers

Aim Mutations in the STAM binding protein (STAMBP) gene cause microcephaly-capillary malformation (MIC-CAP) syndrome, which was described as a novel syndrome several years ago. Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth. To the best of our knowledge, the present study reported the case of the first Turkish patient with MIC-CAP syndrome caused. Material and Method We describe two brothers (one of whom passed away when he was 2 years old, and the other who was alive when he was 4 months old) from consanguineous parents of Turkish ancestry. Results Common features in both brothers were refractory epilepsy with early-onset myoclonic seizures, microcephaly, dysmorphic facial features, multiple small-sized hemangiomas widespread on the skin, and developmental delay. Our 4 months old patient had alopecia of which rare accompaniment to the syndrome (figure 1). There was cerebral atrophy in the cranial magnetic resonance imaging and a burst-suppression pattern in the EEG of both patients. Genetic studies revealed the presence of a homozygous pathogenic STAMPB gene c.188A>G(p.Tyr63Cys) mutation. This type of mutation 188A>G was also detected in the father and mother in the heterozygous state. Conclusions MIC-CAP syndrome is a rare disease that has only recently been described in approximately 20 patients worldwide. This study also highlighted the fact that MIC-CAP associated with STAMBP mutation often presents as an early epilepsy that cannot be treated and can lead to death.