COL4A1 Gene Mutation Masquerading as Cerebral Palsy: Report of a Rare Case

The Collagen Type 4 alpha 1 (COL4A1), is an important component of nearly all vascular basement membranes. Pathogenic mutation of this gene results in varied manifestations. In this report, we describe a two-and-a-half-year-old boy with an eventful perinatal period, global developmental delay, and epileptic spasms. Examination revealed microcephaly, nystagmus, and spasticity in limbs. Electroencephalogram showed multifocal epileptiform discharges and MRI brain demonstrated periventricular white matter changes, intracerebral bleeds, and porencephalic cysts. CT brain showed intracranial calcifications and screening for congenital infection was negative. The molecular genetic evaluation was later confirmed with a heterozygous mutation of the COL4A1 gene on exon 37 (variant - p.Gly1050Ala) with an autosomal dominant inheritance pattern. Currently, the child has developed drug-refractory epilepsy requiring polypharmacy and the ketogenic diet. COL4A1 gene mutations are close mimickers of Cerebral Palsy, hence a high index of suspicion should be exercised while approaching a child with spastic quadriplegia in order to promptly diagnose and manage such children for a better neurological outcome.