Smets Koenraad
Department of Neonatology, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.
Neuromuscul Disord. 2008 Feb;18(2):183-4. doi: 10.1016/j.nmd.2007.10.004. Epub 2008 Feb 20.
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.
X连锁性肌管性肌病通常在出生时即表现为肌张力减退和呼吸窘迫。然而，其表型表现可能极具变异性。我们报告了一名患有该疾病严重形式的新生儿。在出生后第二周，他出现了具有临床意义的乳糜胸，需要进行引流并使用醋酸奥曲肽治疗。先天性肌强直性营养不良患者中经常会出现胸腔积液。据我们所知，乳糜胸与X连锁性肌管性肌病的关联迄今尚未见报道。由于该患儿的乳糜胸无法归因于任何明显的病症，或许它可被纳入X连锁性肌管性肌病的临床谱中。
