MEROSIN-NEGATIVE NON-FUKUYAMA-TYPE CONGENITAL MUSCULAR-DYSTROPHY - A CASE-REPORT

We report a female infant with non-Fukuyama-type congenital muscular d ystrophy with merosin deficiency, She manifested marked hypotonia and muscle weakness from the neonatal period, with an elevated creatine ki nase concentration. Her motor developmental milestones were markedly d elayed; however, her intellectual development was normal. Although cra nial computed tomography (CT) at 3 months of age was normal, subsequen t CT at 16 months of age demonstrated diffuse, abnormal white matter l ucencies. Muscle biopsy findings at 16 months of age were compatible w ith those of congenital muscular dystrophy. In addition, no muscle fib ers were immunostained by the merosin antibody. The patient died of pn eumonia at 23 months of age. These clinical symptoms and CT findings a re similar to those described in patients with merosin-negative congen ital muscular dystrophy in European countries.