Chediak-Higashi syndrome in Infant/Neonate
Alerts and Notices
Synopsis
It is now understood that the clinical findings and complications associated with Chediak-Higashi syndrome occur on a spectrum; thus, not every patient has all the findings, complications, or mortality associated with the classic description. The dichotomy is between what is considered typical versus atypical Chediak-Higashi syndrome. The latter may have more progressive neurologic consequences and focal or generalized hyperpigmentation as defining features. Moreover, the hematologic sequelae of Chediak-Higashi syndrome are less morbid, if present, in its atypical form. Cutaneous and systemic AA amyloidosis is an additional finding in older patients with all forms of Chediak-Higashi syndrome.
Codes
ICD10CM:E70.330 – Chediak-Higashi syndrome
SNOMEDCT:
111396008 – Chediak-Higashi syndrome
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Albinism
- Cutaneous T-cell lymphoma
- Griscelli / Elejalde syndrome
- Pyoderma gangrenosum
- Recurrent bacterial infections for a different underlying reason, eg, staphylococcal carriage, diabetes, hyper-immunoglobulin E (IgE) syndrome or other immunodeficiency syndromes
- Other pigmentary dilution disorders: Hermansky-Pudlak syndrome, phenylketonuria, Menkes kinky hair syndrome
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Management Pearls
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Therapy
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References
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Last Reviewed:05/17/2022
Last Updated:06/22/2022
Last Updated:06/22/2022
Chediak-Higashi syndrome in Infant/Neonate