Ataxia with Oculomotor Apraxia Type 1 Presenting in a 5-Year Old Child: Diagnostic and Clinical Considerations

Abstract

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare neurodegenerative disease with autosomal recessive inheritance, caused by mutations in the APTX gene encoding aprataxin, a protein involved in DNA repair. We report the case of a 5-year-old child born to consanguineous parents, presenting with ataxic gait, speech difficulties, and strabismus since age 3. Examination revealed postural instability, areflexia, peripheral hypotonia, and asynchrony between eye and head movements. Three café-au-lait spots and telangiectasia were noted on skin examination. Brain MRI showed early cerebellar atrophy, and electromyography demonstrated decreased sensory amplitudes in the upper limbs. Alpha-fetoprotein, albumin, and lipid profile were normal, unlike some AOA1 cases. High-throughput DNA sequencing identified the homozygous c.875-1G>A variant in the APTX gene, confirming the AOA1 diagnosis. Treatment remains symptomatic, with stem cell transplantation being considered for our patient.