Transaminitis as a Red Herring: A Misdiagnosed Case of Duchenne Muscular Dystrophy—A Case Report

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Introduction: Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder characterized by progressive muscle weakness and elevated creatine kinase (CK) levels.However, early signs may be misinterpreted, especially when biochemical abnormalities such as transaminitis are present.Elevated liver enzymes due to muscle degeneration can mimic hepatic disease, delaying the correct diagnosis.Case description: A 6.3-year-old male presented with persistently elevated liver enzymes and sonographic hepatic abnormalities.He was initially evaluated at another hospital for suspected metabolic liver disease.At our clinic, detailed neuromuscular examination revealed Gowers' sign, valley sign, and calf pseudo hypertrophy.Serum CK was significantly elevated.Whole exome sequencing (WES) identified a hemizygous pathogenic variant in the DMD gene (c.531-2A> C), confirming the diagnosis of DMD.A heterozygous variant in the Focadhesin (FOCAD) gene was also detected but deemed unrelated to the phenotype.Discussion: This case emphasizes that elevated liver enzymes in children without hepatic symptoms should prompt evaluation for neuromuscular disorders.Misinterpretation can lead to diagnostic delay.Genetic testing played a crucial role in uncovering the correct diagnosis guiding clinical management and family counseling.Conclusion: Duchenne muscular dystrophy may present with atypical biochemical findings, such as isolated transaminitis.A multidisciplinary approach and early genetic testing are key to avoiding misdiagnosis, ensuring timely intervention, and providing appropriate genetic counseling to affected families.