Resumo

EXTREIA, Joana; AFONSO, Paula; RAFAEL, Margarida  e  ROCHA, Susana. Calf hypertrophy and raised transaminases in a child: a case report of muscular dystrophy. Rev Port Med Geral Fam [online]. 2014, vol.30, n.6, pp.398-401. ISSN 2182-5173.

Introduction: Transaminases are non-specific markers of hepatocyte function. There are several conditions associated with elevated transa-minases such as Duchenne muscular dystrophy (DMD), an X-linked recessive disorder characterized by progressive muscle weakness. Case Report: We report the case of a 6 year-old boy referred to the pediatric department for evaluation of raised transaminases. He had no family history of liver or neuromuscular disease. From his past history we noted independent gait at 15 months, toe-walking, difficulty climbing stairs and running, and fatigue in comparison to his peers. On clinical examination there was calf and abdominal hypertrophy, slight lumbar lordosis, proximal lower limb weakness and a positive Gowers’ sign. Given the clinical history, physical examination and la-boratory findings, the diagnosis of muscular dystrophy was suspected. Serum creatine kinase was found to be elevated. A muscle biopsy was performed and revealed absence of dystrophin. DMD gene sequencing identified the mutation c.3103C > T (p.Gln1035X) which confirmed the diagnosis of DMD. Comment: The finding of raised transaminases is not always diagnostic of liver disease. With prolonged elevation of those enzymes, liver disease must be excluded but this laboratory finding may also appear in muscle disease. CK levels should also be measured to avoid exhaustive testing for liver disease. The authors advise clinicians to consider neuromuscular diseases in the differential diagnosis of cases presenting a with suggestive clinical and laboratory findings.

Palavras-chave : Transaminases; Creatine Kinase; Muscular Dystrophy; Calf Hypertrophy.

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