Merosin-deficient congenital muscular dystrophy in an Omani boy
Al-Futaisi, A.; Al-Maawali, A.; Almawali, A.; Abdwani, R.; Rao, V.T.; Javad, H.; Koul, R.
Neurosciences 13(3): 305-307
2008
ISSN/ISBN: 1319-6138 PMID: 21063346 Document Number: 619313
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.