Bainbridge-Ropers Syndrome in a Brazilian Child Associated with Duplicated Pyelocaliceal System: A Case Report
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Abstract
Bainbridge-Ropers syndrome (BRPS) is a rare neurodevelopmental disorder caused by pathogenic variants in ASXL3. We report the first Brazilian pediatric case of BRPS associated with a duplicated pyelocaliceal system, adding evidence to a possible, but still poorly understood, relationship between ASXL3 mutations and urinary system developmental abnormalities. The patient presented typical BRPS features, including hypotonia, severe developmental delay, feeding difficulties requiring gastrostomy, seizures, and craniofacial dysmorphisms. Additionally, renal imaging revealed a duplicated pyelocaliceal system, with preserved renal function. Whole-exome sequencing identified a de novo truncating ASXL3 variant. This case reinforces the expanding phenotypic spectrum of BRPS and highlights the importance of comprehensive systemic assessment, including increased vigilance and consideration of renal evaluation, in children with syndromic features and global developmental delay. Early genetic testing remains essential to diagnostic confirmation and management planning.
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