Affiliations: Department of Pediatrics, Seth G. S. Medical College,
and KEM Hospital, Parel, Mumbai, India
Note: [] Correspondence: Dr. Mamta N. Muranjan, Third Floor, 16-B,
Suman Apartments, Naushir Bharucha Road, Tardeo, Mumbai 400007, India. Fax: +91
022 24143435; E-mails: [email protected], [email protected]
Abstract: An 18-month-old infant who presented with delayed motor development,
hypotonia and absent deep tendon reflexes and normal cognitive development was
diagnosed to have merosin-positive congenital muscular dystrophy (MP-CMD) on
the basis of raised serum levels of creatine kinase, features suggestive of
myopathy on electrophysiological studies, dystrophic muscle pathology and
normal immunohistochemistry for merosin (laminin-α2).
Neuroimaging studies demonstrated white matter hyperintensities on
T_2-weighted images similar to that seen in patients with
merosin negative (MN-CMD). Electrophysiological studies also demonstrated
features of axonal involvement. This finding has not been previously described
in association with MP-CMD. Although we have not been able to exclude abnormal
glycosylation of α-dystroglycan, this case expands the
clinical phenotype of MP-CMD and suggests that neuroimaging of children with
CMD may be useful in the identification of variants of MP-CMD.
