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

Nahid Aslani1,2, Bahareh Abtahi-Naeini3,4, Fereshte Rastegarnasab5

  • 1Pediatric Rheumatology Society of Iran, Tehran, Iran.

Pediatric Dermatology
|May 1, 2024
PubMed

Insights

SLC29A3 spectrum disorder, or histiocytosis-lymphadenopathy plus syndrome (HLPS), causes varied symptoms that mimic other diseases. This case highlights a complex pediatric presentation of HLPS, emphasizing diagnostic challenges.

Area of Science:

  • Genetics and rare diseases
  • Pediatric medicine
  • Dermatology and immunology

Background:

  • SLC29A3 spectrum disorder, also known as histiocytosis-lymphadenopathy plus syndrome (HLPS), is a rare genetic condition.
  • HLPS is characterized by a broad range of multi-systemic manifestations.
  • These diverse symptoms can lead to misdiagnosis and delayed identification.

Observation:

  • A 9-year-old girl presented with a complex clinical history dating from birth.
  • Her symptoms included chronic generalized lymphadenopathy, hepatosplenomegaly, short stature, flexion contractures, hearing loss, hyperpigmentation, and cardiac anomalies.
  • The constellation of symptoms presented a diagnostic challenge due to its multi-systemic nature.

Findings:

  • The patient was ultimately diagnosed with SLC29A3 spectrum disorder.
  • This diagnosis was established after a thorough evaluation of her extensive clinical features.
  • The case underscores the importance of considering rare genetic disorders in complex pediatric presentations.

Implications:

  • Accurate and timely diagnosis of SLC29A3 spectrum disorder is crucial for appropriate management.
  • Recognizing the varied clinical spectrum of HLPS can improve diagnostic pathways.
  • Further research into the genetic basis and clinical management of HLPS is warranted.

Keywords:
H syndromeSLC29A3 disorderhistiocytosis‐lymphadenopathy plus syndrome

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