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Category: Volume 08 Issue 06 June 2020
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Title: Chediak-Higashi Syndrome with HLH - A Rare Case Report

Authors: Dr Sunil Kumar Agarwalla, Dr B. Maheswar Rao, Dr Krishna Dash

 DOI: https://dx.doi.org/10.18535/jmscr/v8i6.92

Abstract

Chediak Higashi Syndrome (CHS) is a rare autosomal recessive disorder with fewer than 500 cases published worldwide over the last 20 years[1]. The important clinical clue for recognising this entity is, by the presence of partial oculo cutaneous albinism. This disease usually presents with recurrent infections and uncommonly also presents with dangerous life threatening condition as HLH (Hemophagocytic Lymphohistiocytosis). The clinical features of this syndrome include partial albinism, photosensitivity, severe recurrent bacterial infections, bleeding diathesis, and late onset neurological manifestations (central and peripheral neuropathy, sensory loss, muscle weakness, cerebellar ataxia, and cognitive impairment)[2,3]. Approximately 85% of cases develop a fatal accelerated phase (HLH) characterized by pancytopenia, hemophagocytosis, and marked infiltration of organs by lymphocytes leading to hepatosplenomegaly, lymphadenopathy and finally with multi-organ dysfunction (MODS)[6].

Owing to the rarity of the condition and the characteristic clinical and hematological findings, we report a case of Chediak– Higashi Syndrome (CHS) which presented with HLH.

Keywords: Chediak Higashi, partial albinism, HLH, MODS.

References

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Corresponding Author

Dr B. Maheswar Rao

Assistant Professor Pediatrics, MKCG MCH, Berhampur, Odisha