Fauntleroy-Love Kristin D, Wilson Theodore E, Padem Nurcicek, Golomb Meredith R
Division of Developmental Pediatrics, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.
Division of Pediatric Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.
Child Neurol Open. 2023 Jul 27;10:2329048X231190784. doi: 10.1177/2329048X231190784. eCollection 2023 Jan-Dec.
Alazami syndrome is a rare autosomal recessive neurodevelopmental disorder due to loss-of-function variants in the La ribonucleoprotein 7 gene. Children with Alazami syndrome are most often affected by a combination of primordial dwarfism, intellectual disability, and distinctive facial features. Previous cases have been primarily found in consanguineous families from the Middle East, Asia, and North Africa. We present a 21-month-old Caucasian male from the Midwest United States with nonconsanguineous parents who presented with frequently reported findings of unusual facial features, poor growth, cardiac and genitourinary findings, and developmental delay; less-frequently reported findings, including transient erythroblastopenia of childhood (TEC) and immune deficiency; and never-before reported findings of periventricular nodular heterotopia and stroke. He developed stroke during a hospitalization for Hemophilus influenzae meningitis. The possible contributions of to TEC, immune deficiency, brain malformation, and stroke are discussed. Guidelines for the care of Alazami patients are proposed.
阿拉扎米综合征是一种罕见的常染色体隐性神经发育障碍，由La核糖核蛋白7基因的功能丧失变异引起。患有阿拉扎米综合征的儿童最常受到原发性侏儒症、智力残疾和独特面部特征的综合影响。先前的病例主要发现于中东、亚洲和北非的近亲家庭。我们报告了一名来自美国中西部的21个月大的白人男性，其父母非近亲结婚，该患儿具有常见的异常面部特征、生长发育不良、心脏和泌尿生殖系统异常以及发育迟缓等表现；较少见的表现包括儿童期短暂红细胞生成减少症（TEC）和免疫缺陷；还有此前从未报道过的室管膜下结节性异位和中风。他在因流感嗜血杆菌脑膜炎住院期间发生了中风。本文讨论了这些表现与TEC、免疫缺陷、脑畸形和中风之间可能的关联，并提出了阿拉扎米综合征患者的护理指南。
