David Sara, De Waele Kathleen, De Wilde Bram, Faes Franny, Vanakker Olivier, Walraedt Sophie, Prytuła Agnieszka
Department of Pediatrics, Division of Pediatric Nephrology and Rheumatology, Ghent University Hospital , Ghent , Belgium.
Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, Ghent University Hospital , Ghent , Belgium.
Acta Clin Belg. 2019 Dec;74(6):460-464. doi: 10.1080/17843286.2018.1551743. Epub 2018 Dec 3.
We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and growth impairment. Further evaluation revealed rickets caused by proximal renal tubular dysfunction. At age 3, the boy exhibited dysmorphic features and bilateral cataract. Genetic analysis of the gene showed a novel variant in exon 13: c.1250T>A, p.Val417Asp; and segregation analysis confirmed the variant to be pathogenic, compatible with the diagnosis of the oculocerebrorenal syndrome of Lowe. Lowe syndrome is a rare multisystemic disorder; the diagnostic triad requires involvement of the eye, central nervous system and the proximal renal tubule. Typical clinical features are congenital cataract, glaucoma, hypotonia, mental and behavioral problems, benign skin lesions, platelet dysfunction and dental abnormalities. Phenotypic features early in life may be nonspecific, which is illustrated by this case with a late manifestation of cataract. Because an early diagnosis can lead to better counseling and treatment, we suggest urinary testing for proteinuria as a part of the evaluation of children with unexplained hypotonia.
我们描述了一名男孩，他出生时表现为新生儿肌张力减退，随后出现运动发育迟缓及生长障碍。进一步评估发现其患有近端肾小管功能障碍所致的佝偻病。3岁时，该男孩出现了畸形特征及双侧白内障。对该基因的遗传分析显示外显子13存在一个新的变异：c.1250T>A，p.Val417Asp；分离分析证实该变异具有致病性，符合洛氏眼脑肾综合征的诊断。洛氏综合征是一种罕见的多系统疾病；诊断三联征要求累及眼睛、中枢神经系统和近端肾小管。典型的临床特征包括先天性白内障、青光眼、肌张力减退、精神和行为问题、良性皮肤病变、血小板功能障碍及牙齿异常。生命早期的表型特征可能不具特异性，本病例中白内障的晚期表现就说明了这一点。由于早期诊断可带来更好的咨询和治疗，我们建议将蛋白尿的尿液检测作为对不明原因肌张力减退儿童评估的一部分。
