Merosin-deficient congenital muscular dystrophy in an Omani boy.
Merosin-deficient congenital muscular dystrophy is an autosomal recessive disease that can manifest differently in different ethnic groups. This often presents as a floppy infant, and normal mental development. The creatine kinase is usually elevated with white matter abnormalities on brain imaging. In this report, we describe an infant with Merosin-deficient congenital muscular dystrophy who presented with delayed motor milestones and hypotonia. The clinical features, biopsy findings, and neuroimaging abnormalities in our patient are described.
Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
Amna
A
Al-Futaisi
Almundher
A
Al-Maawali
Almundher
A
Almawali
Raghad
R
Abdwani
Vasudev T
VT
Rao
Hashim
H
Javad
Roshan
R
Koul