Case Report: Smith-Magenis syndrome with bilateral high-grade vesicoureteral reflux, hypothyroidism, and seizure in infancy

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30 Oct 2026 0 comments

Smith-Magenis syndrome (SMS) is a rare neurodevelopmental and multisystem disorder caused mainly by 17p11.2 deletions involving RAI1. Because the characteristic behavioral and sleep phenotype may not yet be apparent, diagnosis in infancy can be challenging. We report a 9-month-old boy with recurrent febrile urinary tract infection, bilateral hydronephrosis with ureteral dilatation, hypothyroidism, global developmental delay, hypotonia, brachydactyly, dysmorphic features, phimosis, and short...