Diagnosis of Duchenne Muscular Dystrophy Before Circumcision: A Very Early Diagnosis

Sarici S. U., Deretarla K., Emral L. I., Ceren C., Ozutok H. E., ALTUN BİNGÖL D., ...Daha Fazla

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, cilt.9, sa.3, ss.268-270, 2019 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9 Sayı: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.5222/buchd.2019.05658
  • Dergi Adı: IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.268-270
  • Anahtar Kelimeler: Hypertransaminasemia, increase in creatinin kinase, Duchenne muscular dystrophy
  • İstanbul Üniversitesi Adresli: Evet

Özet

Duchenne muscular dystrophy (DMD) is an X linked recessive disorder caused by a deficient or defective synthesis of dystrophine protein. Children with DMD are rarely symptomatic at birth or in early infancy, and the diagnosis is extremely difficult to establish and even it is made by chance. In this article a 5.5-month-old infant in whom increases in liver function tests were detected in routine tests performed for general anesthesia and later diagnosed as Duchenne muscular dystrophy is presented. It has been emphasized that DMD, as a rare disease should be considered in etiological investigations in infants with elevations in liver function tests of any origin but with normal physical examination findings, and the utility of testing for simple biochemical markers such as creatinin kinase in establishing diagnosis before performing further detailed investigations should be kept in mind.