Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene

IF 0.3 Q4 PEDIATRICS Journal of Child Science Pub Date : 2021-01-01 DOI:10.1055/s-0041-1724042
A. Parikh, P. Gadgil
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Abstract

Abstract Lowe syndrome (LS) is a rare X-linked condition having a clinical triad of congenital cataracts, intellectual disability, and progressive tubular nephropathy. Although the easily recognizable symptom complex usually evolves by infancy, a unifying diagnosis is often missed. We present a young boy with a prolonged history of multisystem affection, finally leading to the clinical suspicion of LS. The diagnosis was confirmed on genetic analysis as well as a previously unreported mutation in the OCRL gene was discovered. A 9-year-old boy with intellectual disability and recent onset seizures was referred for the evaluation of rickets. In addition, there was a significant past history of neonatal cataracts, infantile glaucoma, persistent albuminuria, and severe short stature with growth hormone deficiency. The characteristic involvement of eyes, brain, and kidneys along with a family history of a maternal uncle being similarly affected led to the clinical suspicion of LS. A whole exome sequencing was performed, which not only confirmed a nonsense mutation, c.2530C > T, in exon 23 of the Lowe gene (OCRL) but also revealed it to be a novel pathogenic variant. This case highlights the importance of piecing together the different facets of a complex clinical syndrome in reaching a challenging diagnosis. Also, LS must be kept as a differential in any child with neonatal cataracts and intellectual disability. Genetic confirmation of LS in our patient partly relieved the parental anxiety, and the child continued to remain under follow-up with multiple specialists, only now with a definite diagnosis.
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Lowe综合征:OCRL基因新突变的复杂临床诊断
Lowe综合征(LS)是一种罕见的x连锁疾病,临床表现为先天性白内障、智力残疾和进行性肾小管肾病。虽然容易识别的症状复杂通常在婴儿期发展,但一个统一的诊断经常被遗漏。我们提出一个年轻的男孩与多系统情感的长期历史,最终导致临床怀疑LS。基因分析证实了诊断,并发现了以前未报道的ocl基因突变。一名患有智力残疾和最近发作的癫痫的9岁男孩被转介进行佝偻病的评估。此外,还有明显的新生儿白内障、婴儿青光眼、持续性蛋白尿和严重身材矮小伴生长激素缺乏的既往病史。眼睛、大脑和肾脏的特征性受累,以及舅舅有类似的家族史,导致临床怀疑LS。全外显子组测序结果表明,在Lowe基因(OCRL)第23外显子中存在c.2530C > T无义突变,且该突变是一种新的致病变异。本病例强调了将复杂临床综合征的不同方面拼凑在一起以达到具有挑战性的诊断的重要性。此外,LS必须作为任何新生儿白内障和智力残疾儿童的鉴别指标。本例患者LS的遗传确认部分缓解了家长的焦虑,该儿童继续接受多名专家的随访,直到现在才得到明确的诊断。
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CiteScore
0.50
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0.00%
发文量
19
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