Distrophinopathy: A rare cause of elevated transaminase in newborn

Abstract

Elavated transaminase levels are encountered in neonates and infancy because of several  reasons. Muscular dystrophy is a rare hereditary disease compared to other disease causing elevation of transaminase. Some of them progress rapidly and result in death. Our case, who was born from a healthy non-relative marriage, delivered with NSD as term and weighed 3750g. Patient was admitted to the service with diagnosis of meconium aspiration syndrome and perinatal asphyxia due to being stained with meconium and having respiratory distress.The patient was examined because of elevated transaminase levels. There was no reason which could lead to elevation of transaminases derived from liver. We examined the patient in terms of  myopathy because of the high level of creatinine kinase. Since the muscle biopsy was compatible with distrophinopathy, it was diagnosed as distrophinopathy. In children with prolonged transaminase levels, such clinical symptom may not be encountered. However, in these patients, it should be noted that rare myopathies may cause transaminase elevation. By reporting of this case we wanted to emphasize that determination of creatine kinase levels is important for early diagnosis.