Chediak-Higashi syndrome in Infant/Neonate
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.
E70.330 – Chediak-Higashi syndrome
111396008 – Chediak-Higashi syndrome
Differential Diagnosis & Pitfalls