CLINICAL AND IMMUNOHISTOCHEMISTRY FEATURES IN 8 CASES OF CONGENITAL MUSCULAR DYSTROPHY

Objectives: To study the clinical manifestation, immunohistochemistry feature and follow-up information of congenital muscular dystrophies (CMD), 8 cases of CMD patients collected in the past 4 years were investigated.

Methods: Clinical manifestations and immunohistochemistry features of biopsied muscle specimens using anti-laminin a2 (merosin), anti a-dystroglycan and anti ß-dystroglycan antibodies were summarized and analyzed.

Results: These patients mostly presented at birth or during the first six months of life with muscular hypotonia, contractures, and respiratory or feeding problems. Four of the 8 patients were merosin-stain negative. These might be primary merosin deficiency due to mutations in the laminin a2 chain (MDC1A). Although cognitive function was normal, T2-weighted magnetic resonance imaging of the brain showed abnormalities of the white matter. Four cases were merosin-stain positive, and two of them also had hypoglycosylation of a-dystroglycan. The two patients had mental retardation. One of them had optic nerve atrophy and brain structure abnormal.

Conclusion: Two types of CMD were present in our group. Merosin-negative CMD was more common, accompanied with abnormalities of the white matter. “Alpha-dystroglycanopathy” could be seen in merosin-positive cases.