Schuurs-Hoeijmakers syndrome in two patients from Japan
Schuurs-Hoeijmakers syndrome in two patients from Japan
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DOI：
10.1002/ajmg.a.9
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发表时间：
2019-03-01
影响因子：
2
通讯作者：
Kosaki, Kenjiro
中科院分区：
文献类型：
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作者：
Hoshino, Yusuke;Enokizono, Takashi;Kosaki, Kenjiro
Schuur-Hoeijaker综合征是一种罕见的疾病，其特征是由于PACS1突变而导致的各种身体异常中的智力残疾和面部特征畸形。到目前为止，已报告了28名PACS1复发突变患者(C.607C>；T)，主要发生在西方人群中。在这里，我们描述了两名患有Schuur-Hoeijaker综合征的日本患者，他们的PACS1基因突变反复发生。除了典型的临床症状外，每个患者都出现了新的临床表型。1例患者表现为不自主运动，并接受了盐酸三己苯乙酯治疗。我们假设PACS1突变导致固有的多巴胺能不足，这是伴随着神经发育过程而出现的症状的基础。第二例患者在2岁零8个月时因严重便秘检查而被诊断为脂肪脊髓脊膜膨出。这位患者因缺乏皮肤损害而延误了对脂肪脊髓膜脑膨出的诊断。由于大多数PACS1突变的患者表现为便秘，因此有可能被漏诊为脂肪脊髓膜脑膨出。由于Schuur-Hoeijaker综合征患者的表型扩大还没有完全被认识到，还需要更多的研究来澄清临床谱。
Schuurs-Hoeijmakers syndrome is a rare disease characterized by intellectual disability and dysmorphic facial features among various physical abnormalities due to PACS1 mutation. To date, 28 patients with a recurrent de novo PACS1 mutation (c.607C > T) have been reported, primarily in Western populations. Here, we describe two Japanese patients with Schuurs-Hoeijmakers syndrome with a recurrent PACS1 mutation. In addition to the typical clinical symptoms, each patient presented novel clinical phenotypes. One patient presented with involuntary movements and was treated with trihexyphenidyl hydrochloride. We hypothesized that the PACS1 mutation leads to an inherent dopaminergic insufficiency that underlies the developing symptoms along with the neurodevelopmental processes. The second patient was diagnosed with lipomyelomeningocele during an examination for severe constipation at the age of 2 years and 8 months. The diagnosis of lipomyelomeningocele in this patient was delayed due to the lack of cutaneous lesions. As the majority of patients with PACS1 mutation present constipation, underdiagnosis of lipomyelomeningocele is a possibility. As the phenotypic expansion of the patients with Schuurs-Hoeijmakers syndrome was not fully recognized, additional studies are needed to clarify the clinical spectrum.