title: Merosin-deficient congenital muscular dystrophy: neuropathology case reports.
abstract: The aims of our study were: to present cases of congenital muscular dystrophy (CMD) with deficiency in merosin and the importance of immunohistochemistry in the diagnosis of merosin-deficient CMD. In four years (1997-2000), we found three patients with merosin-deficient CMD, one of them having an unusual clinical and pathological manifestation of the disease. Muscle biopsies of gastrocnemius or quadriceps muscles were investigated. In addition with the conventional HE staining, indirect immunohistochemistry for merosin, dystrophin, utrophin and for the proteins of the dystrophin associated complex (alpha-, beta-, gamma- sarcoglycans; beta-dystroglycan) was performed on cryosections. The findings suggest that there is no correlation between the clinical and histological picture of the disease and the expression of merosin in skeletal muscles. The degree of muscle involvment (assessed by histology) is parallel with the clinical neuromotor deficiency, but not with expression of merosin, which can be absent even in mild cases. The clinical investigations as well as current morphological techniques, only together with immunohistochemistry can differentiate between merosin - deficient CMD and other muscular dystrophy forms.
authors.affiliation: Department of Neurosciences, Institute of Medicine and Neurosciences, Clinical Hospital Colentina, Sos. Stefan cel Mare, Nr. 19-21, sector 2, Bucharest, Romania.
authors.forename: Emilia
authors.initials: E
authors.lastname: Manole
authors.forename: Marilena
authors.initials: M
authors.lastname: Alexianu