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Optic abnormalities may be indicative of early-onset PKAN
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Signs of early-onset pantothenate kinase-associated neurodegeneration may include retinitis pigmentosa and optic atrophy, according to a case study.
Danish Saleheen and colleagues at The Aga Khan University in Pakistan described the case of a 13-year-old boy whose vision had been decreasing for 8 years. His mother’s pregnancy and his natal history were unremarkable. By the time he was 4, his night vision had begun to deteriorate. By age 10, the child had developed spasticity, decreased movement of his lower limbs and dystonic postural abnormalities.
Funduscopy confirmed retinitis pigmentosa, and an MRI showed marked bilateral high-signal intensities surrounding the globus pallidus, a characteristic sign of pantothenate kinase-associated neurodegeneration (PKAN), the researchers noted. The autosomal disease is associated with an accumulation of iron in the basal ganglia, and early-onset is rapidly progressive and typically characterized by gait impairment, which afflicted this patient.
The case study is published in the Canadian Medical Association Journal.