Chediak-Higashi syndrome

Indian J Pediatr. 2000 Aug;67(8):595-7. doi: 10.1007/BF02758492.

Abstract

A case of Chediak-Higashi syndrome is reported in a four-year-old boy who presented with recurrent chest infection, partial albinism, hyperpigmentation of the extremities and presence of giant granules in leucocytes and melanocytes in the skin. Parental consanguinity was present. Though uncommon, hyperpigmentation of sun exposed areas may be the initial symptom in Chediak-Higashi syndrome.

Publication types

  • Case Reports

MeSH terms

  • Anti-Bacterial Agents / administration & dosage
  • Arm
  • Ascorbic Acid / administration & dosage
  • Blood Transfusion
  • Chediak-Higashi Syndrome / diagnosis*
  • Chediak-Higashi Syndrome / therapy
  • Child, Preschool
  • Combined Modality Therapy
  • Facial Dermatoses
  • Fatal Outcome
  • Humans
  • Hyperpigmentation
  • Leg
  • Male

Substances

  • Anti-Bacterial Agents
  • Ascorbic Acid