Persistent Elevation of Transaminases as the Presenting Finding in an Adolescent With an Unsuspected Muscle Glycogenosis

Abstract

E LEVATIONS of the serum transaminases, alanine amino transferase (ALT) (SGPT) and aspartate aminotransferase (AST) (SGOT) in the pediatric and adolescent population are usually attributed to hepatic abnormalities. The persistence of these elevations over 3 months in spite of the lack of a previous identifiable &dquo;hepatitis-like&dquo; illness, hepatomegaly, or any abnormalities of alkaline phosphatase, gammaglutamyl transpeptidase, or bilirubin, is thought to be reason to initiate an investigation into causes of chronic hepatitis Recently, two reports have emphasized persistently elevated transaminases as the presentation of unsuspected childhood myopathies, including most prominently Duchenne's muscular dystrophy, and also Becker's muscular dystrophy, Kugelberg-Welander's syndrome, and scapuloperoneal muscular dystrophy. 2,3 In retrospect, many of these children gave historical clues and had identifiable muscle weakness during a careful physical examination. We report an adolescent with a completely silent muscle glycogenosis who was diagnosed after a chance finding of elevated transaminases and a negative diagnostic work up for chronic liver disease. Case HistoryA 15-year-old white male was found to have elevated transaminases as part of a routine physical examination for participation in school sports. He had been previously healthy, had no exercise intolerance, and was considered a well-coordinated, good athlete, who played football, basketball, and baseball. There was no history of fever, malaise, rash, myalgias or arthralgias, dark or red urine, jaundice, or exposure to hepatitis. There was no prior history of blood transfusions, or consumption of alcohol or other drugs. The patient was taking no medications. Two siblings ages 7 and 9 years were well and there was no family history of chronic liver or muscle disease. Physical examination showed no hepatomegaly or splenomegaly.Because of persistent elevations in transaminases (Table 1), further investigations were carried out over a 12 month period. These included a normal CBC, sedimentation rate, prothrombin time, partial thromboplastin time, total protein, albumin, globulin, iron, alpha-1-antitrypsin, and ceruloplasmin levels. Serologic examination was negative for antinuclear antibody, anti smooth muscle antibody, and markers of infection with Hepatitis A, Hepatitis B, Ebstein-Barr Virus, and Cytomegalovirus. An ophthalmologic examination did not show Kayser-Fleischer rings and a 24 hour urine copper quantitation was normal. An abdominal ultrasound showed a large spleen (12 cm in length) and a normal size homogenous liver.After 12 months of elevated transaminases, the patient was referred for consideration of a liver biopsy. In order to confirm the presence of occult liver disease, fasting and 2-hour postprandial serum cholylglycine levels were obtained (RIA-Abbott Laboratories, Abbott Park, IL), and were normal. Subsequently, a creatine kinase (CPK) was found to be 11,370 IU/L (Table 1). A repeat determination 1 week later again showed massive elevati...

Aminotransferases and muscular diseases: A disregarded lesson. Case reports and review of the literature

“…A child with isolated hypertransaminasemia might turn out to be affected by several forms of myopathy. Although some may be secondary to inflammatory processes 28 or glycogen storage, 29 the majority is because of primitive genetic myopathies. Recent years have been characterised by the discovery of an increasing number of diseases because of alterations in the genes coding for one or the other of the proteins related to the muscle fibre: all compartments, such as the sarcolemmal muscle membrane, extracellular matrix, sarcomere, muscle cytosol and nucleus, can be affected 30 …”

Serum Transaminase Levels in Boys With Duchenne and Becker Muscular Dystrophy

“…3 Persistent elevation of serum transaminase levels has been well documented in patients with several muscle disorders, including muscular dystrophies (ie, Duchenne muscular dystrophy [DMD], Becker muscular dystrophy [BMD], and limb-girdle muscular dystrophy), 4-7 inflammatory myopathies (ie, polymyositis, necrotizing myopathy), 8 and metabolic myopathies. 9 Failure to recognize muscle as the cause of high serum transaminase levels in these patients has resulted in their having to undergo costly and invasive hepatic procedures (eg, liver biopsy) 7 and in delayed recognition of occult or minimally symptomatic muscle disease 10,11 and unnecessary discontinuation of drug therapies (eg, antibiotics, anticonvulsants). 8 Our data highlight the importance of considering muscle as a cause of high serum transaminase levels and interpreting serum transaminase and CPK levels together for all patients already known to have a dystrophinopathy.…”

Muscular Dystrophy and Transaminases

“…[7][8][9][10][11][12] Kohli ve ark semptomsuz transaminaz yüksekliği olan ve kas hastalığı tanısı alan dört çocuk olgu bildirmişlerdir. Yazarların olguları iki ve 16 yaş arasında çocuklar olup en yüksek AST, ALT ve CK değerleri 489 IU/L, 557 IU/L ve 32265 IU/L olarak bildirilmiştir.…”