Синдром микроцефалии с капиллярными мальформациями: клинический случай

Abstract

ABSTRACT INTRODUCTION. Microcephaly-capillary malformation syndrome (MIC-CAP syndrome; OMIM: 614261) is a rare severe autosomal recessive disorder characterized mainly by congenital microcephaly, multiple small capillary malformations of the skin, and drugresistant epilepsy with early onset. The disease results from a mutation in the STAMBP gene. To date, the worldwide prevalence is less than 1:1000000 and less than 30 cases have been described. CASE PRESENTATION. We present a case of MIC-CAP syndrome in a child with a homozygous mutation NC_000002.12: g.73831044A>G (c.188A>G, p.Tyr63Cys) in the STAMBP gene. In the clinical picture: congenital microcephaly, multiple capillary malformations, drug-resistant epilepsy with early onset, gross psycho-motor developmental delay. CONCLUSION. The presented case has all the main characteristic symptoms of the clinical picture of MIC-CAP syndrome. The peculiarity of the case can be considered the presence of renal multicystosis, which has not been previously described in this syndrome. In antiepileptic therapy, the best effect was obtained on duotherapy with valproate and vigabatrin with course addition of clobazam. Given the typical symptom complex of this syndrome, it is advisable to immediately search for a mutation in the STAMBP gene. KEYWORDS: microcephaly, capillary malformations, STAMBP gene, drug-resistant epilepsy