Case report: An adult case of Poretti-Boltshauser syndrome diagnosed by medical checkup.

Abstract

Abstract Objectives This report describes an adult-onset case of Poretti–Boltshauser syndrome (PTBHS) and with novel variants of LAMA1. Methods A 65-year-old Japanese woman with cerebellar malformation identified during a medical checkup was referred to our hospital. Subsequently, neurological examination, brain imaging, and genetic investigation via whole-exome sequencing were performed. Results The patient presented with mild cerebellar ataxia and intellectual disability. Magnetic resonance imaging revealed cerebellar dysplasia and cysts and an absence of molar tooth sign. Genetic analysis revealed a novel homozygous variant of c.1711_1712del in LAMA1 (NM_005559.4). Discussion Most cases with PTBHS are reported in pediatric patients; however, our patient expressed a mild phenotype and was undiagnosed until her 60s. These findings suggest that PTBHS should be considered in not only pediatric cerebellar dysplasia but also adult-onset cerebellar ataxia with mild presentation.