X-linked myotubular myopathy and chylothorax.

Abstract

X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment with octreotide acetate. Pleural effusions are frequently described in patients with congenital myotonic dystrophy. To our knowledge, the association of chylothorax and X-linked myotubular myopathy has not been described to date. As chylothorax could not be attributed to any evident condition in this child, perhaps it may be added to the clinical spectrum of X-linked myotubular myopathy.

• Authors: Koenraad Smets
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 18 Issue 2 Pg. 183-4 (Feb 2008) ISSN: 0960-8966 [Print] England
• PMID: 18077167 (Publication Type: Case Reports, Journal Article)

Topics

• Biopsy
• Chromosomes, Human, X
• Chylothorax (complications, genetics, pathology)
• Female
• Humans
• Infant, Newborn
• Muscle Hypotonia (complications, genetics, pathology)
• Myopathies, Structural, Congenital (complications, genetics, pathology)
• Phenotype