A 4-year-old male presenting with frequent falls, clumsily rising from seated positions, but a normal creatine kinase.
Jude Abadie
✦ AI-curated · Sources linked
Case in brief
A 4-year-9-month-old boy had progressive gait instability, frequent falls, mild coordination impairment, and difficulty rising. Duchenne muscular dystrophy was considered, but creatine kinase was not elevated and initial DMD molecular testing was negative. Further assessment found truncal ataxia, oculomotor apraxia, recurrent respiratory infections, lymphocytopenia, and markedly elevated alpha-fetoprotein. Targeted testing identified compound heterozygous pathogenic ATM variants, establishing ataxia-telangiectasia.
What made this case unusual
The presentation initially suggested Duchenne muscular dystrophy, but normal creatine kinase and negative DMD testing, alongside neurologic, immune, and AFP findings, redirected the diagnosis to ataxia-telangiectasia.
Diagnostic / clinical pearl
In a child with motor difficulties, a normal creatine kinase and negative DMD testing should prompt reassessment when additional neurologic or immune features are present; markedly elevated AFP can help guide targeted testing for ataxia-telangiectasia.
Why it matters
The authors note that early recognition can support coordinated neurologic and immunologic care, malignancy surveillance, and genetic counseling.