Which congenital muscular dystrophy is caused by LAMA2 mutations and presents with hypotonia in infancy and brain MRI abnormalities?

• A. LAMA2-related congenital muscular dystrophy
• B. Fukuyama congenital muscular dystrophy
• C. Walker-Warburg syndrome
• D. Pompe disease

Answer: (A)

LAMA2-related congenital muscular dystrophy is caused by mutations in the LAMA2 gene, which encodes laminin alpha-2, a key component of the muscle and brain extracellular matrix. This condition typically presents in infancy with marked hypotonia and poor muscle tone. The brain MRI often shows white matter abnormalities due to hypomyelination or leukodystrophy from laminin-2 deficiency affecting CNS membranes. This combination—early hypotonia plus characteristic white matter changes on MRI—best fits the LAMA2-related muscular dystrophy.

Fukuyama congenital muscular dystrophy and Walker-Warburg syndrome involve more severe brain malformations such as cobblestone lissencephaly, reflecting different glycosylation pathway defects, while Pompe disease is a glycogen storage disorder that commonly features cardiomyopathy and does not characteristically show the same CNS MRI white matter abnormalities.