[MIM 214 500]

(Chediak-Steinbrinck-Higashi syndrome or disease)

Very rare.  Autosomal recessive transmission of mutations of the LYST gene on 1q42.1-42.2.  Lysosomal disease combining a deficit of the function of granulocytes with tendency to repetitive microbial infections, a disorder of blood platelets aggregation ( platelet storage pool disorder : see this term) and a partial oculo-cutaneous albinism. 
Clinical picture:

-        repeated bacterial infections (presence of giant granules in polymorphonuclear leukocytes) with frequent evolution towards macrophage activation with a hemophagocytosis syndrome (treatment: bone marrow transplantation)

-        progressive central and peripheral neuropathy due to infiltration of the nervous tissue by histiocytes

-        a discrete oculo-cutaneous albinism: blond or brown hair with a silver gray reflection, whitish or slate-gray skin;  variable ocular involvement (hyper or hypopigmentary retinitis).

Presence of abnormal lysosomes in many cell types (including neutrophils). 

Anesthetic implications: 

Prevention of infections. Check primary hemostasis. Avoid bright light (photophobia).

References : 

-         Ulsoy H, Erciyes N, Ovali E, Kalac N, Ulusoy S, Albayrak D. 
Anesthesia in Chediak-Higashi syndrome--case report. 
Middle East J Anesthesiol 1995; 13:101-5.

-         Demirkiran O, Utku T, Urkmez S, Dikmen Y. 
Chediak-Higashi syndrome in the intensive care unit. 
Pediatr Anesth 2004; 14: 685-8. 

-        Wang Z, Liang Y, Xu Z.
Silvery gray hair : a clue to diagnosing Chediak-Higashi syndrome.
J Pediatr 2019, in press

Updated: March 2019