Division of Pediatric Gastroenterology, Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, Turkey.
Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, Turkey.
Pediatr Allergy Immunol Pulmonol. 2023 Dec;36(4):147-149. doi: 10.1089/ped.2023.0079. Epub 2023 Nov 20.
Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) caused by biallelic mutations is a very rare syndrome with only 16 cases reported in the literature. Skeletal dysplasia, neurodevelopmental delay, immunodeficiency, liver, and kidney cysts are the most common findings of this syndrome. Here, we report on a patient who exhibited a lethal phenotype with clinical characteristics of this syndrome and had a homozygous pathogenic mutation in gene. ISDNA should be kept in mind in the differential diagnosis of patients presenting with neuro-immuno-skeletal dysplasia phenotype.
免疫骨骼发育不良伴神经发育异常（ISDNA）是一种非常罕见的综合征，文献中仅报道了 16 例。骨骼发育不良、神经发育迟缓、免疫缺陷、肝和肾囊肿是该综合征最常见的表现。在这里，我们报告了一例具有该综合征临床特征的致死表型患者，其基因存在纯合致病性突变。在神经免疫骨骼发育不良表型患者的鉴别诊断中应考虑到 ISDNA。
