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

Abstract

Duchenne musculer dystrophy (DMD) is a X linked disorder caused by a deficient or abnormal synthesis of dystrophine protein. Children with DMD are rarely symptomatic at birth or in early infancy, and the diagnosis is extremely difficult and even depends on happenstances. 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 to have DMD is presented. DMD, as a rare disease should be considered in etiological investigations in infants with elevations in liver function tests of any origin and with normal physical examination findings, and the utility of simple biochemical markers such as creatinin kinase in establishing diagnosis before performing further detailed investigations should be remembered.

Keywords

• hypertransaminasemia
• elevated creatinine kinase
• duchenne muscular dystrophy