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., ...More

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, vol.9, no.3, pp.268-270, 2019 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 9 Issue: 3
  • Publication Date: 2019
  • Doi Number: 10.5222/buchd.2019.05658
  • Journal Name: IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.268-270
  • Keywords: Hypertransaminasemia, increase in creatinin kinase, Duchenne muscular dystrophy
  • Istanbul University Affiliated: Yes

Abstract

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.