X-Linked Myotubular Myopathy and Chylothorax

Year 2018, Volume: 4 Issue: 2, 40 - 47, 12.09.2018

Ferit Durankuş , Adnan Ayvaz Şenol Bozdağ Canan Abdullah Göl Evrim Şenkal

Abstract

Myotubular myopathy, also known as centronuclear myopathy, is a
congenital muscle disease. There are three main types according to its
inheritance, which differ in clinical severity, age of onset, and prognosis.
The most common and most severe type is X- linked myotubular myopathy. X-linked
myotubular myopathy usually manifests with hypotonia and respiratory distress
at birth. Patients with severe types of the disease are often lost during the
neonatal period due to respiratory failure. In muscle histopathology, central
nucleation is typical in the majority of muscle fibers, and pleural effusions
are frequently described in congenital myopathies. A 20-day-old male neonate
born via C-section at 36 gestation weeks and 2400 g was referred to our
hospital due to hypotony, edema, and respiratory distress. In this article, we
present a severe form of the disease in a neonate with chylothorax.

Keywords

Chylothorax, X-linked myotubular myopathy, Neonate

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