Abstract

The most common causes of the drug-resistant epilepsy in children are genetic damages and congenital malformations of the brain. The microcephaly-capillary malformation syndrome (MICCAP) is an inherited disorder that is most frequently characterized by severe progressive microcephaly, early-onset refractory epilepsy, capillary malformations spread across the body. This paper describes a case of MICCAP in the infant presented with the early-onset drug-resistant epilepsy, microcephaly, spastic tetraplegia, profound developmental delay, multiple small capillary hemangiomas in the skin, hypoplasia of fingers. A novel homozygous mutation of STAMBP gene (c188A>G; chr2:74058171rs781694797) in exon 2 was revealed. The same mutation was found in both parents. The antiepileptic drug combination therapy was given.