The value of respiratory muscle testing in a child with congenital muscular dystrophy

Respirology Case Reports

Sonia Khirani³  Ivana Dabaj⁴  Alessandro Amaddeo²  Adriana Ramirez¹  Susana Quijano-Roy⁴ 

[1] AP-HP, Pediatric Noninvasive Ventilation and Sleep Unit, Hôpital Necker, Paris, France;Institute for Maternal and Child Health, Pediatric Department, IRCCS Burlo Garofolo, Trieste, Italy;ASV Santé, Gennevilliers, France;AP-HP, Pediatric Department, Reference Centre for Neuromuscular Disorders (GNMH), Hôpital Raymond Poincaré, Garches, France

关键词: COL6‐related myopathy;    diaphragm;    respiratory function;    Ullrich congenital muscular dystrophy;    vital capacity;   

DOI  :  10.1002/rcr2.61

来源: Wiley

【 摘 要 】

Abstract

Respiratory muscle testing is often limited to noninvasive volitional tests such as vital capacity and maximal static pressures. We report the case of a 12-year-old boy with congenital muscular dystrophy (CMD) in whom invasive and non-volitional respiratory muscle tests showed an elective diaphragmatic dysfunction with the preservation of expiratory muscle strength. This finding, coupled with a clinical phenotype associating diffuse muscle atrophy with finger hyperlaxity and proximal contractures, strengthened the suspicion of Ullrich CMD. Skin-cultured fibroblasts showed intracellular retention of collagen 6 (COL6), muscle magnetic resonance imaging was typical of COL6 myopathy, and molecular studies identified a COL6 gene mutation (COL6A2 c.954+2T>C). The diagnosis of a diaphragmatic dysfunction led to a sleep study that evidenced periods of hypoxemia which justified nocturnal noninvasive ventilation. This case report highlights the benefit of assessing respiratory muscles, through invasive procedure, to assist in clinical diagnosis and to guide clinical management.

【 授权许可】

CC BY-NC   
© 2014 The Authors. Respirology Case Reports published by John Wiley & Sons Ltd on behalf of The Asian Pacific Society of Respirology.

Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.