Letters to the Editor

Indian Pediatrics 2002; 39:210-211  

Early Diagnosis of Duchenne Muscular Dystrophy with High Level of Transaminases

Duchenne muscular dystrophy (DMD) is present in infancy with a high serum creatine phosphokinase (CK) enzyme level; however, the clinical manifestations are not recognized until 3 to 4 years of age. The disease is usually diagnosed several years after the onset of symptoms. Despite the advances in molecular bases of DMD and improved range of tests, diagnostic age has not changed for years(1-3). The diagnostic delay has long been recognized as a major problem, because the families may have further affected boys in ignorance of the elder child’s disease and the prolonged diagnostic delay is itself distressing(4).

We evaluated an 11-month-old boy with DMD who presented with the elevation of serum aminotransferases in presymptomatic stage. He was investigated because of ano-rexia at an outside institution. There was no other complaint suggestive of any hepatic or muscular diseases. On laboratory examina-tion, serum aminotransferases were found to be increased and the patient was admitted to our hospital for further evaluation. There was no history of neuromuscular disorder in his family. Developmental milestones were normal. Physical examination revealed no abnormality. Biochemical examination revealed serum glutamic-oxaloacetic trans-aminase (GOT) of 342 IU/L (normal: 0-35) and glutamic-pyruvic transaminase (GPT) of 326 IU/L (normal: 0-40). Other liver function tests were normal and hepatitis markers were negative. Despite extensive investigations, no obvious cause was found to explain the abnormal liver function tests. Then, a myopathy was suspected and a raised CK level of 16295 IU/L (normal: 20-200) was detected. The electromyography, performed with the initial diagnosis of DMD, showed myopathic changes. The diagnosis of DMD was confirmed with muscle histology, dystrophin deficiency on immunocyto-chemistry and molecular genetic investiga-tions. Genetic counseling was offered to the family.

Although the serum activities of amino-transferases are usually increased in liver disease, they also reflect the degeneration of muscular tissue(5). Our case confirms the importance of the unexplained serum GOT and GPT elevation and determination of serum CK with suspicion of DMD, without any overt clinical symptoms. Although one-third of cases represent new mutations, early diagnosis of DMD allows the parents to make choices about family planning. In addition, any future therapeutic interventions are likely to make a real difference to prognosis only if they can be instituted early(1). The earlier the diagnosis is made, the greater the opportunity of providing accurate counselling and the possibility of offering prenatal diagnosis in subsequent pregnancies. The case presented here illustrates that unexplained elevated serum aminotransferases may be early markers of DMD.

Semra Kurul,
Ayfer Ulgenalp,*
Eray Dirik,
Derya Ercal,*
Department of Child Neurology and
Clinical Genetics*,
Dokuz Eylül University Faculty of Medicine,
35340, Izmir, Turkey.

 

1. Bushby KMD, Hill A, Steele JG. Failure of early diagnosis in symptomatic Duchenne muscular dystrophy. Lancet 1999; 353: 557-558.

2. Avaria M, Kleinsteuber K, Hurrera L, Carvallo P. Delayed diagnosis of Duchenne muscular dystrophy in Chile. Rev Med Chil 1999; 127: 65-70.

3. Apleton RE, Nicolaids P. Early diagnosis of Duchenne muscular dystrophy. Lancet 1995; 345: 1243-1244.

4. Fenton-May J, Bradley DM, Sibert JR. Screening for Duchenne muscular dystrophy. Arch Dis Child 1994; 70: 551-552.

5. Stenhammar L, Klintberg B, Tevebring J, Henriksson KG. Muscular dystrophy misdiag-nosed as hepatic disease in a child with celiac disease. Acta Pediatr 1995; 84: 707-708.