Merosin-deficient congenital muscular dystrophy in an Omani boy

Authors

• Amna Al-Futaisi
• Almundher Almawali
• Raghad Abdwani
• Vasudev T. Rao
• Hashim Javad
• Roshan Koul

Abstract

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.

Article Type

Case Report

First Page

305

Last Page

307

Recommended Citation

Al-Futaisi, Amna; Almawali, Almundher; Abdwani, Raghad; Rao, Vasudev T.; Javad, Hashim; and Koul, Roshan (2008) "Merosin-deficient congenital muscular dystrophy in an Omani boy," Neurosciences: Vol. 13: Iss. 3, Article 20.
DOI: https://doi.org/10.17712/1658-3183.1615