A Sri Lankan boy with Emery-Dreifuss muscular dystrophy 5 presenting during infancy with persistent transaminitis

Emery-Dreifuss muscular dystrophy is a rare muscular dystrophy characterised by muscle weakness, joint contractures, and cardiac involvement. Among its subtypes, Emery-Dreifuss muscular dystrophy 5 typically presents with muscle weakness and cardiomyopathy during late childhood. Here, we report a Sri Lankan boy with Emery-Dreifuss muscular dystrophy 5 presenting with an unusual manifestation of persistent transaminitis detected during infancy.

A 21-month-old boy is admitted for further evaluation of high transaminases detected at nine months of age. He was the first-born child of healthy, non-consanguineous parents with an uncomplicated perinatal period. At nine months, he was found to have high transaminases (aspartate transaminase- 230IU/L and alanine transaminase- 234IU/L), which had persisted. He had marginal isolated gross motor developmental delay; however, he could walk unaided at 18 months. Examination revealed pseudohypertrophy of the calf and positive Gower's sign. Lower limb tone and tendon reflexes were normal, and there were no joint contractions. He did not have dysmorphic features or peripheral stigmata of chronic liver disease. Investigations revealed persistently high aspartate and alanine transaminases and very high creatine phosphokinase of 15625 U/L. Abdominal ultrasonography and other liver function tests were normal. Based on normal liver function tests and high creatine phosphokinase, a muscular dystrophy was suspected. The electromyogram showed features of myopathy, and the muscle biopsy was compatible with congenital muscular dystrophy. The genetic analysis of the dystrophin gene by PCR-based amplification of 19 deletion-prone exons and copy number variation analysis did not reveal deletions in the dystrophin gene. The whole exome sequencing detected a missense splice region heterozygous variant of the SYNE2 gene, confirming Emery-Dreifuss muscular dystrophy 5.

Here, we report an extremely rare presentation of Emery-Dreifuss muscular dystrophy 5 during infancy with transaminitis. This case report highlights the importance of evaluating non-hepatic causes for elevated transaminases and the usefulness of whole exome sequencing in establishing an accurate diagnosis when relatively uncommon diseases are suspected.