International Anatolia Academic Online Journal Health Sciences

Yazarlar: Ferit DURANKUŞ, Adnan AYVAZ, Şenol BOZDAĞ, Canan ABDULLAH GÖL, Evrim ŞENKAL

Konular:-

Anahtar Kelimeler:Chylothorax,X-linked myotubular myopathy,Neonate

Özet: 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.

---