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

Nahid Aslani; Bahareh Abtahi-Naeini; Fereshte Rastegarnasab; Maryam Derakhshan; Elham Tavousi; Kimia Mehraein

doi:10.1111/pde.15619

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

Pediatr Dermatol. 2024 Apr 30. doi: 10.1111/pde.15619. Online ahead of print.

Authors

Nahid Aslani^{1

2}, Bahareh Abtahi-Naeini^{3

4}, Fereshte Rastegarnasab⁵, Maryam Derakhshan⁶, Elham Tavousi⁷, Kimia Mehraein⁵

Affiliations

¹ Pediatric Rheumatology Society of Iran, Tehran, Iran.
² Department of Pediatrics, Isfahan University of Medical Sciences, Isfahan, Iran.
³ Pediatric Dermatology Division of Department of Pediatrics, Imam Hossein Children's Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
⁴ Skin Diseases and Leishmaniasis Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
⁵ Student Research Committee, Isfahan University of Medical Sciences, Isfahan, Iran.
⁶ Department of Pathology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
⁷ Department of Pediatrics, Imam Hossein Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.

PMID: 38689526
DOI: 10.1111/pde.15619

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.

Keywords: H syndrome; SLC29A3 disorder; histiocytosis‐lymphadenopathy plus syndrome.

Publication types

Case Reports