X-Linked Myotubular Myopathy and Chylothorax
Öz
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.
Anahtar Kelimeler
Kaynakça
- (1) Congenital myopathies Authors:Olaf A Bodamer, MD, PhD, FAAP, FACMGGeoffrey Miller, MDSection Editors:Marc C Patterson, MD, FRACPRichard Martin, MDDeputy Editor:John F Dashe, MD, PhD.2010.
- (2) Gökçay Erdal. Çocuk Nörolojisi Türkiye Çocuk Nörolojisi Derneği Yayını. Ankara : Güneş Yayınevi, 2010.
- (3) Curry CJ, Chopra D, Finer NN. Hydrops and pleural effusions in congenital myotonic dystrophy. J Pediatr. 1988; 113:555–57.
- (4) Stratton RF, Patterson RM. DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis. Prenat Diagn. 1993.
- (5) Smets, Koenraad. X-linked myotubular myopathy and chylothorax. Neuromuscular Disorders. 2008; 18: 183–84,
- (6) Schro¨der JM, Durling H, Laing N. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). Acta Neuropathol.2004; 108:250–56.
- (7) Young-Mi H, Kyoung-Ah K, Yun-Jin L, et al. X-linked recessive myotubular myopathy with MTM1 mutations. Korean J Pediatr 2013;56:139–42.
- (8) Dowling JJ Joubert R, Low SE, et al. Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Dis Model Mech. 2012.
Ayrıntılar
Birincil Dil
İngilizce
Konular
-
Bölüm
Olgu Sunumu
Yazarlar
Ferit Durankuş
*
Türkiye
Adnan Ayvaz
Bu kişi benim
Türkiye
Şenol Bozdağ
Bu kişi benim
Türkiye
Canan Abdullah Göl
Bu kişi benim
Türkiye
Evrim Şenkal
Bu kişi benim
Türkiye
Yayımlanma Tarihi
12 Eylül 2018
Gönderilme Tarihi
13 Ağustos 2018
Kabul Tarihi
30 Eylül 2018
Yayımlandığı Sayı
Yıl 2018 Cilt: 4 Sayı: 2
