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Editor,—Too often, the pursuit of detailed investigation supersedes clinical suspicion and decision making. A 3 year old boy was referred to our service for investigation of chronic liver disease. The patient was reported to be a well child, whose development was “within normal limits”; a 2 cm hepatomegaly was found during an admission for a chest infection. Subsequent investigations revealed normal serum bilirubin, γ glutamyl transpeptidase, alkaline phosphatase, and albumin. The only abnormality was a persistently raised alanine aminotransferase (507 IU/litre) and it was this that prompted referral to a liver centre.
Retrospectively it became apparent that the boy had some motor delay, having first walked at the age of 2 years. On clinical examination he was mildly hypotonic and demonstrated a positive Gower's sign. In view of this and the isolated increase in alanine aminotransferase, serum creatinine kinase measurement was requested to determine whether the origin of the transaminase was in fact muscle. The serum creatinine kinase was severely raised at 22 000 μmol/litre and the boy was diagnosed with muscular dystrophy. His liver, which was not enlarged, was palpable probably because of visceroptosis seen on ultrasound scan.
We see two to three cases a year of muscular dystrophies masquerading as liver disease. This phenomenon has been described in a series of five male patients with raised serum alanine aminotransferase in whom signs and symptoms of hepatic disease were absent but evidence of neuromuscular dysfunction was detectable on clinical examination.1 A further case of muscular dystrophy has also been diagnosed in a child with coeliac disease and persistently raised alanine aminotransferase.2 Thinking of alternative sources of alanine and aspartate aminotransferase can help avoid such clinical pitfalls and spare families the anxiety and trauma of unnecessary investigations and delays in diagnosis, which may have prognostic implications.
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