Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family
Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family
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DOI：
10.1515/jpem-2020-0367
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发表时间：
2021-01-01
影响因子：
1.4
通讯作者：
Karabulut, Halil Gurhan
中科院分区：
文献类型：
--
作者：
Baltaci, Hande Nur Cesur;Tasdelen, Elifcan;Karabulut, Halil Gurhan
目的：Ochoa综合征（UFS 1; Urofacial syndrome 1）是一种非常罕见的常染色体隐性遗传疾病，由HPSE 2基因突变引起，导致膀胱排尿功能障碍和影响第VII颅神经的躯体运动神经病。尼曼-匹克病是一种罕见的常染色体隐性遗传性溶酶体贮积症，由于鞘磷脂酶缺乏导致全身受累，通常通过鞘磷脂磷酸二酯酶-1基因（SMPD 1）突变发生。病例介绍：在这里，我们报告一名6岁女孩，出现尿失禁、复发性尿路感染、面部表情（主要是微笑时）异常、距离过远、便秘等症状，睡眠时眼睑闭合不全和脾肿大。在患者中检测到两种不同基因的纯合子突变，导致两种不同的综合征。在SMPD 1基因中发现纯合子NM_000543.5：c.502G>A（p.Gly168Arg）突变，导致尼曼-匹克病。此外，一些临床特征是由于一种新的纯合突变中发现的HPSE 2基因，NM_021828.5：c.755delA（p.Lys252SerfsTer23）。结论：在这里，我们讨论的重要性，考虑双重诊断的社会中，近亲结婚是常见的。准确的诊断对于疾病的管理和并发症的预防非常重要。
Objectives: Ochoa syndrome (UFS1; Urofacial syndrome1) is a very rare autosomal recessive disorder caused by mutations in the HPSE2 gene that results bladder voiding dysfunction and somatic motor neuropathy affecting the VIIth cranial nerve. Niemann-Pick disease is a rare autosomal recessive lysosomal storage disorder with systemic involvement resulting from sphingomyelinase deficiency and generally occurs via mutation in the sphingomyelin phosphodiesterase-1 gene (SMPD1).Case presentation: Here, we report a 6-year-old girl with symptoms such as urinary incontinence, recurrent urinary tract infections, peculiar facial expression, mainly when smiling, hypertelorism, constipation, incomplete closure of eyelids during sleep and splenomegaly. Homozygote mutations in two different genes responsible for two distinct syndromes were detected in the patient. Homozygous NM_000543.5:c.502G>A (p.Gly168Arg) mutation was found in the SMPD1 gene causing Niemann-Pick disease. In addition, some of the clinical features were due to a novel homozygous mutation identified in the HPSE2 gene, NM_021828.5:c.755delA (p.Lys252SerfsTer23).Conclusions: Here, we discuss about the importance of considering dual diagnosis in societies where consanguineous marriages are common. Accurate diagnosis of the patient is very important for the management of the diseases and prevention of complications.