Year 2018, Volume 4 , Issue 2, Pages 40 - 47 2018-09-12

X-Linked Myotubular Myopathy and Chylothorax

Ferit DURANKUŞ [1] , Adnan AYVAZ [2] , Şenol BOZDAĞ [3] , Canan ABDULLAH GÖL [4] , Evrim ŞENKAL [5]


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.

Chylothorax, X-linked myotubular myopathy, Neonate
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Primary Language en
Journal Section Case Report
Authors

Author: Ferit DURANKUŞ (Primary Author)
Institution: OKAN ÜNİVERSİTESİ
Country: Turkey


Author: Adnan AYVAZ
Institution: OKAN ÜNİVERSİTESİ
Country: Turkey


Author: Şenol BOZDAĞ
Institution: OKAN ÜNİVERSİTESİ
Country: Turkey


Author: Canan ABDULLAH GÖL
Institution: OKAN ÜNİVERSİTESİ
Country: Turkey


Author: Evrim ŞENKAL
Institution: OKAN ÜNİVERSİTESİ
Country: Turkey


Dates

Publication Date : September 12, 2018

Bibtex @case report { iaaojh453045, journal = {International Anatolia Academic Online Journal Health Sciences}, issn = {}, eissn = {2148-3159}, address = {Hürriyet Mahallesi Dolu Sokak Elam KOnakları A Blok Daire 15 Süleymanpaşa Tekirdağ}, publisher = {Abdülkadir IŞIK}, year = {2018}, volume = {4}, pages = {40 - 47}, doi = {}, title = {X-Linked Myotubular Myopathy and Chylothorax}, key = {cite}, author = {DURANKUŞ, Ferit and AYVAZ, Adnan and BOZDAĞ, Şenol and ABDULLAH GÖL, Canan and ŞENKAL, Evrim} }
APA DURANKUŞ, F , AYVAZ, A , BOZDAĞ, Ş , ABDULLAH GÖL, C , ŞENKAL, E . (2018). X-Linked Myotubular Myopathy and Chylothorax. International Anatolia Academic Online Journal Health Sciences , 4 (2) , 40-47 . Retrieved from https://dergipark.org.tr/en/pub/iaaojh/issue/39119/453045
MLA DURANKUŞ, F , AYVAZ, A , BOZDAĞ, Ş , ABDULLAH GÖL, C , ŞENKAL, E . "X-Linked Myotubular Myopathy and Chylothorax". International Anatolia Academic Online Journal Health Sciences 4 (2018 ): 40-47 <https://dergipark.org.tr/en/pub/iaaojh/issue/39119/453045>
Chicago DURANKUŞ, F , AYVAZ, A , BOZDAĞ, Ş , ABDULLAH GÖL, C , ŞENKAL, E . "X-Linked Myotubular Myopathy and Chylothorax". International Anatolia Academic Online Journal Health Sciences 4 (2018 ): 40-47
RIS TY - JOUR T1 - X-Linked Myotubular Myopathy and Chylothorax AU - Ferit DURANKUŞ , Adnan AYVAZ , Şenol BOZDAĞ , Canan ABDULLAH GÖL , Evrim ŞENKAL Y1 - 2018 PY - 2018 N1 - DO - T2 - International Anatolia Academic Online Journal Health Sciences JF - Journal JO - JOR SP - 40 EP - 47 VL - 4 IS - 2 SN - -2148-3159 M3 - UR - Y2 - 2018 ER -
EndNote %0 International Anatolia Academic Online Journal Health Sciences X-Linked Myotubular Myopathy and Chylothorax %A Ferit DURANKUŞ , Adnan AYVAZ , Şenol BOZDAĞ , Canan ABDULLAH GÖL , Evrim ŞENKAL %T X-Linked Myotubular Myopathy and Chylothorax %D 2018 %J International Anatolia Academic Online Journal Health Sciences %P -2148-3159 %V 4 %N 2 %R %U
ISNAD DURANKUŞ, Ferit , AYVAZ, Adnan , BOZDAĞ, Şenol , ABDULLAH GÖL, Canan , ŞENKAL, Evrim . "X-Linked Myotubular Myopathy and Chylothorax". International Anatolia Academic Online Journal Health Sciences 4 / 2 (September 2018): 40-47 .
AMA DURANKUŞ F , AYVAZ A , BOZDAĞ Ş , ABDULLAH GÖL C , ŞENKAL E . X-Linked Myotubular Myopathy and Chylothorax. IAAOJH. 2018; 4(2): 40-47.
Vancouver DURANKUŞ F , AYVAZ A , BOZDAĞ Ş , ABDULLAH GÖL C , ŞENKAL E . X-Linked Myotubular Myopathy and Chylothorax. International Anatolia Academic Online Journal Health Sciences. 2018; 4(2): 47-40.