{Reference Type}: Case Reports
{Title}: A Child of Congenital Muscular Dystrophy-Dystroglycanopathy with Homozygous Missense Variation in Exon 3 of the ISPD Gene: A Rare Case from Odisha.
{Author}: Biswal S;Panigrahi D;Mohakud NK;Kumar M;Swain N;
{Journal}: Adv Biomed Res
{Volume}: 9
{Issue}: 0
{Year}: 2020
暂无{DOI}: 10.4103/abr.abr_141_19
{Abstract}: Dystroglycanopathy is a type of congenital muscular dystrophy caused by mutations causing defective glycosylation of a dystrophin-associated glycoprotein, dystroglycan and as such is a very rare disease entity. We are reporting a 1-year-old girl child with dystroglycanopathy who presented with motor predominant developmental delay. She had motor development quotient of 52, mental development quotient of 75, facial dysmorphism, mixed hypotonia with a global decrease in muscle power, and areflexia. Serum CPK level was elevated; magnetic resonance imaging brain revealed multiple intraparenchymal cysts in the cerebellum with disorganized folia. Next-generation sequencing revealed a homozygous missense mutation in exon 3 of the ISPD gene (p.Gln215His; ENST00000407010) consistent with the diagnosis of dystroglycanopathy muscle-eye-brain disease. Genetic counseling and prenatal diagnosis for subsequent pregnancies were advised for the family, apart from appropriate rehabilitation for the child.