Combination of Four Features of Slc29a3 Spectrum Disorder in a Child: A Case Report Publisher Pubmed

Summary: Study reports a girl with SLC29A3 disorder showing diverse symptoms like hearing loss and heart issues, highlighting need for early diagnosis. #RareDisease #Pediatrics

Aslani N^{1, 2} ; Abtahinaeini B^{3, 4} ; Rastegarnasab F⁵ ; Derakhshan M⁶ ; Tavousi E⁷ ; Mehraein K⁵
Source: Pediatric Dermatology Published:2024

Abstract

SLC29A3 spectrum disorder, also known as histiocytosis-lymphadenopathy plus syndrome (HLPS), presents a wide variety of multi-systemic manifestations that can be mistaken for other conditions. Herein, we report a 9-year-old girl who presented with a complex clinical presentation since birth, including chronic generalized lymphadenopathy in association with hepatosplenomegaly, short stature, flexion contractures, hearing loss, hyperpigmentation, and heart anomalies. She was ultimately diagnosed with the SLC29A3 spectrum disorder. © 2024 Wiley Periodicals LLC.