X-linked recessive myotubular myopathy proven by muscle biopsy
Tsai, C.H.; Huang, W.S.; Tsai, F.J.; Lee, C.C.; Chen, S.S.
Journal of the Formosan Medical Association 95(2): 153-156
1996
ISSN/ISBN: 0929-6646 PMID: 9064005 Document Number: 461346
We report a baby boy, the third child of a non-consanguineous couple, with congenital myotubular myopathy. At birth, he had generalized hypotonia and respiratory distress, On physical examination, an elongated apathetic face, high-arched palate, bilateral ptosis, funnel chest, frog-leg posture, little spontaneous movement of the limbs and areflexia were observed. A chest x-ray revealed thin ribs and clavicles. The infant died 54 days after birth despite intensive management. The mother, a healthy 32-year-old female, displayed myotubes on muscle biopsy which suggested an X-linked recessive inheritance pattern for myotubular myopathy. This report illustrates the importance of taking a detailed family history as well as a muscle biopsy in the diagnosis of X-linked recessive myotubular myopathy.