Progressive cerebral atrophies in three children with COL4A1 mutations
Progressive cerebral atrophies in three children with COL4A1 mutations
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DOI：
10.1016/j.braindev.2021.06.008
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发表时间：
2021-10-29
影响因子：
1.7
通讯作者：
Maegaki, Yoshihiro
中科院分区：
文献类型：
--
作者：
Nakamura, Yuko;Okanishi, Tohru;Maegaki, Yoshihiro
背景：13q34 上的 IV 型胶原蛋白 α 1 链 (COL4A1) 基因编码一条胶原蛋白链。 COL4A1 突变已被确定为人类一组多系统疾病的原因，包括任何年龄的大脑、眼睛、肾脏、肌肉和其他器官。脑成像显示多种异常，包括孔脑畸形、裂脑畸形、多小脑回局灶性皮质发育不良、脑室周围白质脑病、心室畸形和多发性脑钙化。然而，文献中没有报道显示连续随访扫描中出现进展性放射学发现。在此，我们报告了三例从妊娠至五岁或更长的 COL4A1 突变伴无脑畸形的病例，并描述了其临床和脑影像学结果。 病例报告：我们回顾性审查了三名 COL4A1 突变女性患者的临床症状和影像学结果，包括脑磁共振成像 (MRI) 和计算机断层扫描 (CT)。它们的突变分别为c.4843G>A (p.G1u1615Lys)、c.1835G>A (p.Gly612Asp)和c.3556+1G>T。 3例均表现为胎儿期的孔脑畸形；新生儿期严重溶血性贫血；结果：脑部 MRI 和 CT 显示从妊娠到五年或更晚的随访期间，进行性白质萎缩。偶有一名患者出现无症状的轻微脑出血。尽管大脑发生了变化，但儿童早期的临床表现是稳定的。结论：COL4A1 突变可能会导致儿童早期以后进行性脑萎缩。 (C) 2021 日本儿童神经病学学会。由 Elsevier B.V. 出版。保留所有权利。
Background: The collagen type IV alpha 1 chain (COL4A1) gene on 13q34 encodes one chain of collagen. COL4A1 mutations have been identified as the cause of a group of multisystemic conditions in humans, including the brain, eyes, kidneys, muscles, and other organs at any age. Brain imaging shows a wide spectrum of abnormalities, including porencephaly, schizencephaly, polymicrogyria focal cortical dysplasia, periventricular leukoencephalopathy, ventricular dysmorphisms, and multiple brain calcifications. However, there are no reports in the literature showing progressive radiological findings in consecutive follow-up scans. Herein, we report three cases of COL4A1 mutations with porencephaly from gestation to five years of age or longer, and describe their clinical and brain imaging findings.Case reports: We retrospectively reviewed the clinical symptoms and radiological findings, including brain magnetic resonance imaging (MRI) and computed tomography (CT), in three female patients with COL4A1 mutations. Their mutations were c.4843G>A (p.G1u1615Lys), c.1835G>A (p.Gly612Asp), and c.3556+1G>T respectively. All the three cases represented porencephaly in the fetal period; severe hemolytic anemia in the neonatal period; and drug-resistant epilepsy, global developmental delay, and spastic quadriplegia in their childhood.Results: Brain MRI and CT showed progressive white matter atrophy from gestation to five-year follow-up or later. Minor cerebral hemorrhage without symptoms occasionally occurred in one patient. Despite brain changes, the clinical picture was stable during early childhood.Conclusions: COL4A1 mutations may cause progressive cerebral atrophy beyond early childhood. (C) 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.