Combination of four features of SLC29A3 spectrum disorder in a child: A case report

• DOI: 10.1111/pde.15619
• Publication Date: 2024-05-01T06:19:30Z
• Authors: Nahid Aslani; Bahareh Abtahi‐Na...; Fereshte Rastegar...; Maryam Derakhshan; Elham Tavousi; Kimia Mehraein
• Keywords: 03 medical and health sciences; Contracture; 0302 clinical medicine; Humans; Lymphadenopathy; Female; Nucleoside Transport Proteins; Child; Histiocytosis

AbstractSLC29A3 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.