A Rare Cause of Globus Pallidus and Dentate Nucleus Hyperintensity in Childhood: MBOAT Mutation.

Mutations in mammalian membrane-bound O-acyltransferase domain-containing (MBOAT) 7 gene are a rare cause for intellectual disability, developmental delay, autistic findings, epilepsy, truncal hypotonia with appendicular hypertonia, and below-average head sizes. Pathogenic variants in MBOAT7 gene show these nonspecific clinical features that are seen in many other neurometabolic diseases. Therefore, specific neuroimaging findings can be valuable key factors for differential diagnosis.

OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development.

Homozygous OCLN variants have been reported in patients with band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) which is characterized by microcephaly, intracranial calcification and severe developmental delay. The OCLN gene encodes the integral membrane protein, occludin. Herein, we report three additional cases with homozygous OCLN variants that were identified via Trio-WES in two consanguineous unrelated families.