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

Autor:	Chalipat S; Pediatric Neurology, Dr. D Y Patil Medical College, Hospital and Research Centre, Dr. D Y Patil Vidyapeeth (Deemed to be University), Pune, IND., Bollineni J; Pediatrics, Dr. D Y Patil Medical College, Hospital and Research Centre, Dr. D Y Patil Vidyapeeth (Deemed to be University), Pune, IND., Shah P; Pediatrics, Dr. D Y Patil Medical College, Hospital and Research Centre, Dr. D Y Patil Vidyapeeth (Deemed to be University), Pune, IND., Kulkarni V; Pediatric Neurology, Dr. D Y Patil Medical College, Hospital and Research Centre, Dr. D Y Patil Vidyapeeth (Deemed to be University), Pune, IND.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Aug 20; Vol. 16 (8), pp. e67351. Date of Electronic Publication: 2024 Aug 20 (Print Publication: 2024).
DOI:	10.7759/cureus.67351
Abstrakt:	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. Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Chalipat et al.)
Databáze:	MEDLINE
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