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一例以性发育迟缓、身材矮小为表现的Pol III相关性脑白质营养不良病例报道
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Abstract:
本文报告1例POLR3A突变导致性发育迟缓、矮小病例。患儿为15岁女性，表现为性发育迟缓、身材矮小、牙齿稀疏，后发际线低，颈短，颈璞。其父母为近亲。MR提示脑白质髓鞘化明显落后。全外显子组测试显示POLR3A存在一个新的纯合变异c.3226G > A，该变异导致该患者POLR3A的低髓鞘型脑白质营养不良。本病以对症支持治疗为主。本文通过对该病例的报告，期望提高对该疾病的认识。
This article reports a case of developmental delay and short stature caused by a mutation in the POLR3A gene. The patient is a 15-year-old female presenting with delayed sexual development, short stature, sparse teeth, low posterior hairline, short neck, and webbed neck. The parents are consanguineous. Magnetic resonance imaging (MRI) indicates significant hypomyelination in the brain white matter. Whole-exome sequencing revealed a novel homozygous variant, c.3226G > A, in the POLR3A gene, resulting in hypomyelinating leukodystrophy in this patient. The management of this condition primarily involves symptomatic and supportive treatment. This case report aims to enhance awareness and understanding of this disorder through the presentation of the described case.
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