佩罗综合征的延迟诊断:一种罕见的遗传疾病

IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Case Reports in Medicine Pub Date : 2024-01-12 eCollection Date: 2024-01-01 DOI:10.1155/2024/5319443
Mirgul Bayanova, Aigerim Abilova, Alisa Nauryzbayeva, Zhibek Turarbekova
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引用次数: 0

摘要

佩罗综合征(PRLTS)是一种罕见的常染色体隐性遗传疾病,与 HSD17B4、HARS2、CLPP、LARS2、GGPS1、RMND1、TWNK、ERAL1 和 PRORP 基因的致病变异有关。该病的特征是感音神经性听力损失,有时伴有神经系统症状,包括进行性感觉和运动性周围神经病变、小脑共济失调、轻度智力低下和女性卵巢发育不良。本文报告了一例被诊断为痉挛性偏瘫脑瘫的患儿。确定 HSD17B4 基因罕见复合杂合子概率的父母的分离状态,将有助于为家族中佩罗综合征的预后提供遗传咨询。
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Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.

Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy. Determination of the segregation status of the parents of a proband with a rare compound heterozygote in the gene HSD17B4 will help the genetic counselling for the prognosis of Perrault syndrome in the family.

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来源期刊
Case Reports in Medicine
Case Reports in Medicine MEDICINE, GENERAL & INTERNAL-
CiteScore
1.70
自引率
0.00%
发文量
53
审稿时长
13 weeks
期刊最新文献
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