Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.

ABSTRACT:

Background

Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable seizures or hyperekplexia. Brain MRI typically shows cerebral atrophy with simplified gyral pattern and delayed myelination. Only 12 cases have been described to date. The disease is caused by homozygous or compound heterozygous mutations in the ASNS gene on chromosome 7q21.

Case presentation

Family 1 is a multiplex consanguineous family with five affected members, while Family 2 is simplex. One affected from each family was available for detailed phenotyping. Both patients (Patients 1 and 2) presented at birth with microcephaly and severe hyperekplexia, an

SUBMITTER: Seidahmed MZ 

PROVIDER: S-EPMC4947274 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature