Internal Medicine

0521779407-C01 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 20:53

298 Cervical Spine Disorders Chediak Higashi Syndrome

follow-up

■Depends on underlying cause

■Close follow-up important if sphincters or neurologic function at risk

complications and prognosis

■Depend on underlying disorder

Chediak Higashi Syndrome.............................

NANCY BERLINER, MD

history & physical

■Manifests in childhood or infancy with infections of the skin, lungs,

and mucous membranes

■Family history: inherited as autosomal recessive

■Non-hematologic manifestations: partial oculocutaneous albinism,

progressive peripheral and cranial neuropathies, and mental retar-

dation

tests

■Peripheral smear: neutrophils and monocytes contain giant primary

granules

■Functional studies: impaired degranulation and fusion with phago-

somes. Defective chemotaxis.

differential diagnosis

■Evaluate for other immunodeficiency syndromes and neutrophil

functional defects

management

■Early or stable phase: prophylactic antibiotics and aggressive par-

enteral antibiotics for infections

■Ascorbic acid may also be of benefit

specific therapy

■Allogeneic hematopoietic cell transplantation only potentially cura-

tive therapy for CHS.

follow-up

n/a

complications and prognosis

■Majority of patients develop accelerated phase with lymphohistio-

cytic proliferation in the liver, spleen, bone marrow, and lymphatics.