A case report of primary autosomal recessive microcephaly with epilepsy

Abstract

Autosomal recessive primary microcephaly (MCPH) is a rare disease in the development of the nervous system. The main clinical features are congenital microcephaly and moderate to severe mental retardation. So far, seven genes responsible for MCPH have been identified. In the diagnostic criteria for MCPH, frequent epileptic seizures are considered as an exclusion factor. Patients origined from families with inbreeding, with microcephaly associated with epilepsy have been reported with ASPM-gene mutation. This case describes a patient with a clinical diagnosis of MCPH and epilepsy. The patient is from a family with inbreeding, with a younger brother with microcephaly and epilepsy. The genealogy tree is explored; clinical description of polymorphic epileptic seizures, EEG studies; neuropsychological research; neurodegenerative findings on the MRI. Advances in molecular genetics offer a broadening of the clinical spectrum in patients with MCPH to aid prenatal diagnosis.