Al-Rakan Maha A, Abothnain Manal D, Alrifai Muhammad T, Alfadhel Majid
Deapartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.
Division of Neurology, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
BMC Ophthalmol. 2018 Jun 22;18(1):147. doi: 10.1186/s12886-018-0820-4.
Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by microcephaly and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and ataxia, as well as renal abnormalities such as nephrotic syndrome, proteinuria, end-stage renal disease (ESRD), and hiatal hernia.
We describe a GMS case diagnosed with homozygous missense mutation in the WDR73 gene, with absence of renal abnormalities. We expanded the clinical phenotype of GMS with WDR73 gene defect to include retinal dysfunction with missense mutation and developmental dysplasia of the hip. We compared eye findings of our case to previously reported cases, and we present an electroretinogram (ERG) picture for the first time in the literature.
We recommend that clinicians screen patients with GM syndrome for retinal dysfunction and that a skeletal survey should be done to detect developmental dysplasia of the hip (DDH) so as to provide for early intervention.
加洛韦 - 莫瓦特综合征（GMS）是一种罕见的常染色体隐性疾病，于1968年首次被描述，其特征为小头畸形以及中枢神经系统（CNS）异常在婴儿期发病，导致严重的精神运动发育迟缓、小脑萎缩、癫痫和共济失调，还伴有肾脏异常，如肾病综合征、蛋白尿、终末期肾病（ESRD）和食管裂孔疝。
我们描述了一例被诊断为WDR73基因纯合错义突变的GMS病例，该病例无肾脏异常。我们将具有WDR73基因缺陷的GMS临床表型扩展至包括伴有错义突变的视网膜功能障碍和髋关节发育不良。我们将本病例的眼部检查结果与先前报道的病例进行了比较，并首次在文献中展示了视网膜电图（ERG）图像。
我们建议临床医生对GM综合征患者进行视网膜功能障碍筛查，并应进行骨骼检查以检测髋关节发育不良（DDH），以便进行早期干预。
