Chediak-Higashi syndrome

descriptionPublicationkeyboard_double_arrow_right Article 01 Aug 2000 English Publisher:Springer Science and Business Media LLCJournal:The Indian Journal of Pediatrics, volume 67, pages 595-597 (issn: 0019-5456, eissn: 0973-7693,

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Authors: P, Kumar; K S, Rao; P, Shashikala; H R, Chandrashekar; C R, Banapurmath;

doi: 10.1007/bf02758492

pmid: 10985003

Chediak-Higashi syndrome

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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.

Keywords

Male, Leg, Ascorbic Acid, Combined Modality Therapy, Anti-Bacterial Agents, Fatal Outcome, Hyperpigmentation, Child, Preschool, Arm, Humans, Blood Transfusion, Chediak-Higashi Syndrome, Facial Dermatoses

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