A female manifesting carrier of DMD with exon 45 deletion: a case report

Background: Duchenne muscular dystrophy (DMD) is a rare X-linked recessive hereditary disease that overwhelmingly affects males, while symptomatic female carriers are rarely encountered in clinical practice. Persistent elevation of liver enzymes is often misattributed to primary liver injury in young children, which may delay the recognition of underlying myogenic disorders like DMD.

Case Description: We herein report the case of a 3-year-old female manifesting carrier of DMD. The patient initially presented with continuously raised liver transaminases and drastically elevated serum creatine kinase (CK). Further physical examination found delayed motor developmental milestones. Genetic testing confirmed an unreported novel deletion variant in exon 45 of the DMD gene. After all hepatic pathogenic factors were ruled out, the child was finally diagnosed with symptomatic DMD carrier status.

Conclusions: For pediatric cases featuring unexplained hypertransaminasemia combined with high CK values, clinicians should stay highly alert to the possibility of DMD. Dynamic serial CK monitoring and full-scale genetic analysis should be arranged without delay to achieve early diagnosis and timely intervention, which can effectively optimize long-term prognosis for affected children.