ALDH18A1-related cutis laxa syndrome with cyclic vomiting
ALDH18A1-related cutis laxa syndrome with cyclic vomiting
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DOI：
10.1016/j.braindev.2016.01.003
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发表时间：
2016-08-01
影响因子：
1.7
通讯作者：
Fujii, Tatsuya
中科院分区：
文献类型：
--
作者：
Nozaki, Fumihito;Kusunoki, Takashi;Fujii, Tatsuya
皮肤松弛 (CL) 综合征是结缔组织疾病，其特征是皮肤多余、下垂、无弹性和皱纹，并伴有器官受累。在此，我们描述了一名 ALDH18A1 相关 CL 患者出现周期性呕吐。患者为一名12岁男孩，出生后生长发育不良，肌张力低下，身材矮小，关节过度松弛，小头畸形，斜视，双侧白内障，面部畸形，严重智力低下。骨X线照片显示骨质减少和骨质疏松，磁共振血管造影显示脑血管明显扭结和迂曲。这些发现在临床上与 ALDH18A1 相关 CL 一致。分子分析显示 ALDH18A1 存在从头杂合突变 (p.R138Q)。 PYCR1基因未发现突变。患者出现周期性呕吐，血中鸟氨酸、瓜氨酸、精氨酸和脯氨酸水平下降，但未出现高氨血症和其他低氨基酸血症。 ALDH18A1 编码 Delta(1)-吡咯啉-5-羧酸合酶，该酶与鸟氨酸、瓜氨酸、精氨酸和脯氨酸的生物合成有关。其他 ALDH18A1 相关 CL 患者中从未有过周期性呕吐的报道。这是首例 ALDH18A1 相关 CL 伴有与氨基酸异常相关的周期性呕吐的病例报告。 (C) 2016 年日本儿童神经病学学会。由 Elsevier B.V. 出版。保留所有权利。
Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12 year-old boy who presented with poor postnatal growth, hypotonia, short stature, joint hyperlaxity, microcephaly, strabismus, bilateral cataracts, facial dysmorphism and severe mental retardation. Bone radiographs showed osteopenia and osteoporosis, and magnetic resonance angiography showed marked kinking and tortuosity of the brain vessels. These findings were clinically compatible with ALDH18A1-related CL. Molecular analysis revealed a de novo heterozygous mutation (p.R138Q) in ALDH18A1. No mutations were found in PYCR1 gene. The patient developed cyclic vomiting with decreased blood levels of ornithine, citrulline, arginine and proline without hyperammonemia and other hypoaminoacidemias were also found. ALDH18A1 encodes Delta(1)-pyrroline-5-carboxylate synthase, which is related to the biosynthesis of ornithine, citrulline, arginine, and proline. Cyclic vomiting has never been reported in other ALDH18A1-related CL patients. This is the first case report of ALDH18A1-related CL with cyclic vomiting associated with amino acid abnormalities. (C) 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.