1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-5-21-a 10.15844/pedneurbriefs-5-3-6 Muscle Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Nemaline Myopathy: Respiratory Failure http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 03 1991 01 07 2016 5 3 21 21 Copyright: © 1991 The Author(s) 1991 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Respiratory muscle involvement in nemaline myopathy

A Japanese boy with nemaline myopathy diagnosed at three years of age and complicated by severe respiratory failure at 8 years is reported from the Division of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, Kodaira, Tokyo, Japan.

 Nemaline Myopathy Pneumothorax Fibrous Tissue

A Japanese boy with nemaline myopathy diagnosed at three years of age and complicated by severe respiratory failure at 8 years is reported from the Division of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, Kodaira, Tokyo, Japan. The histologic findings of the respiratory muscles obtained during thoracic surgery for pneumothorax showed marked variation in fiber size with increase in fibrous tissue, type II fiber deficiency, elevated acid phosphatase activity, and disorganized intermyofibrillar network. Truncal and biceps muscles showed little variation in fiber size, numerous nemaline bodies and type I fiber predominance. The sudden onset of severe respiratory failure was related to the preferential and progressive involvement of the respiratory muscles. [1]

COMMENT. Severe respiratory insufficiency is an uncommon development in nemaline myopathy, but a frequent complication of Duchenne’s muscular dystrophy. Miller RG et al from the Children’s Hospital of San Francisco have made serial measures of respiratory function in 17 patients with Duchenne’s muscular dystrophy who underwent segmental spinal fusion and in 22 patients without operations. Declining respiratory function was observed in both groups, but operated patients showed improved sitting comfort. [2]

 Sasaki M Yoneyama H Nonaka I Respiratory muscle involvement in nemaline myopathy Pediatr Neurol 1990 Nov-Dec 6 6 425 427 10.1016/0887-8994(90)90014-R 1963532 Miller RG Chalmers AC Dao H Filler-Katz A Holman D Bost F The effect of spine fusion on respiratory function in Duchenne muscular dystrophy Neurology 1991 Jan 41 1 38 40 10.1212/WNL.41.5.770 1985293