Teaching NeuroImage: Chorioretinal Atrophy and Neuroimaging Findings in Boucher-Neuhauser Syndrome

Abstract

A 22-year-old man with nonconsanguineous parents developed progressive ataxia and vision and hearing impairment over 10 years. He had microcephaly and impaired cognition and could only perceive light. He had hypertonia, impaired proprioception, areflexia, and cerebellar signs including nystagmus and ataxia. Systemic findings included proportionate short stature, sexual maturity stage 1, chorioretinal atrophy, and retinitis pigmentosa (Figure, A and B). Evaluation revealed low serum testosterone (0.0868 g/dL [range: 10-15]) and low growth hormone (0.39 ng/mL [range: 1-5]) levels. Nerve conduction revealed axonal motor polyneuropathy. MRI showed cerebellar atrophy (Figure, C-F). His sibling was similarly affected. Sequencing showed novel compound heterozygous variants: nonsense c.1661G>A (p.Trp554Ter) exon 16 and missense c.3668A>C (p.Tyr1223Ser) exon 30 of PNPLA6 gene (chromosome 19).