Case Report
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X-Linked Myotubular Myopathy and Chylothorax

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

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.

References

  • (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.
  • (9) Childers MK, Joubert R, Poulard K, et al. Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Sci Transl Med 2014;6:220ra10.
  • (10) https://clinicaltrials.gov/ct2/show/study/NCT03199469#contacts.
Year 2018, Volume: 4 Issue: 2, 40 - 47, 12.09.2018

Abstract

References

  • (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.
  • (9) Childers MK, Joubert R, Poulard K, et al. Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Sci Transl Med 2014;6:220ra10.
  • (10) https://clinicaltrials.gov/ct2/show/study/NCT03199469#contacts.
There are 10 citations in total.

Details

Primary Language English
Journal Section Case Report
Authors

Ferit Durankuş

Adnan Ayvaz This is me

Şenol Bozdağ This is me

Canan Abdullah Göl This is me

Evrim Şenkal This is me

Publication Date September 12, 2018
Published in Issue Year 2018 Volume: 4 Issue: 2

Cite

APA Durankuş, F., Ayvaz, A., Bozdağ, Ş., Abdullah Göl, C., et al. (2018). X-Linked Myotubular Myopathy and Chylothorax. International Anatolia Academic Online Journal Health Sciences, 4(2), 40-47.

International Anatolia Academic Online Journal Health Sciences