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NEUROLOGY 1987;37:860
© 1987 American Academy of Neurology

Congenital myopathy with type II muscle fiber hypoplasia

M. Yoshioka, MD, S. Kuroki, MD, K. Ohkura, MD, Y. Itagaki, MD and K. Saida, MD

Department of Pediatrics (Drs. Yoshioka, Kuroki, and Ohkura), Kobe General Hospital, Kobe, Japan; and the Departments of Pediatrics (Dr. Itagaki) and Neurology (Dr. Saida), Utano National Hospital, Kyoto, Japan.

We examined a 14-month-old boy with severe muscular hypotonia and weakness. Loss of tendon reflexes were noted at age 2 months. Right-sided heart failure and dyspnea during sleep developed at age 4 months. Muscle biopsy revealed selective hypoplasia of type II fibers and normal type I fibers. Intercostal and diaphragmatic muscles showed similar changes at necropsy and probably accented the respiratory failure.

Address correspondence and reprint requests to Dr. Yoshioka, Department of Pediatrics, Kobe General Hospital, 4–6 Minatojima-Nakamachi, Chuo-ku, Kobe 650, Japan.

Supported in part by Grant No. 86–06 from the National Center for Nervous, Mental and Muscular Disorders (NCNMMD) of the Ministry of Health and Welfare, Japan.

Received March 24, 1986. Accepted for publication in final form August 13, 1986.