[H syndrome: First reported paediatric case in Latin America]

Rev Chil Pediatr. 2016 Nov-Dec;87(6):494-499. doi: 10.1016/j.rchipe.2016.03.006. Epub 2016 Apr 30.
[Article in Spanish]

Abstract

Introduction: H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling.

Objective: To present a clinical case with "typical" characteristics of H Syndrome.

Clinical case: The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067).

Conclusions: These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis.

Keywords: Gen SLC29A3; H syndrome; Hiperpigmentación con hipertricosis; Hipoacusia; Hyperpigmentation with hypertrichosis; SLC29A3 gene; Sensorineural hearing loss; Síndrome H; Testicular tumours; Tumoraciones testiculares.

Publication types

  • Case Reports

MeSH terms

  • Body Height / genetics
  • Child
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Hyperpigmentation / diagnosis
  • Hyperpigmentation / genetics*
  • Hyperpigmentation / pathology
  • Hypertrichosis / diagnosis
  • Hypertrichosis / genetics*
  • Hypertrichosis / pathology
  • Language Development Disorders / genetics
  • Latin America
  • Male
  • Mutation
  • Nucleoside Transport Proteins / genetics*
  • Syndrome
  • Testicular Neoplasms / diagnosis
  • Testicular Neoplasms / genetics*
  • Testicular Neoplasms / pathology

Substances

  • Nucleoside Transport Proteins
  • SLC29A3 protein, human