Abstract：
This report describes an adult case of Poretti-Boltshauser syndrome (PTBHS) and with novel variants of LAMA1. 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. 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). Most cases with PTBHS are reported in pediatric patients; however, our patient expressed a mild phenotype and was undiagnosed until her 60 s. These findings suggest that PTBHS should be considered in not only pediatric cerebellar dysplasia but also adult cerebellar ataxia with mild presentation.
摘要：
本报告描述了Poretti-Boltshauser综合征（PTBHS）的成人病例，并伴有新的LAMA1变体。一名65岁的日本妇女在体检中发现小脑畸形，被转诊到我们医院。随后，神经系统检查,脑成像,并通过全外显子组测序进行遗传调查。患者表现为轻度小脑共济失调和智力障碍。磁共振成像显示小脑发育不良和囊肿，并且没有磨牙征。遗传分析揭示了LAMA1(NM_005559.4)中c.1711_1712del的新纯合变体。大多数PTBHS病例是在儿科患者中报告的；然而，我们的患者表现为轻度表型,直到60岁才被确诊。这些研究结果表明,PTBHS不仅适用于小儿小脑发育不良,也适用于轻度表现的成人小脑共济失调.
