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April 1997

Picture of the Month

Author Affiliations

From the Department of Dermatology, Soroka Medical Center, Beer Sheva (Dr Amichai); the Department of Day Care (Drs Zeharia and Mimouni) and the National Center for Pediatric Hematology and Oncology (Dr Cohen), Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.

Arch Pediatr Adolesc Med. 1997;151(4):425-426. doi:10.1001/archpedi.1997.02170410099015

A 7-MONTH-OLD girl, the product of a marriage of first cousins, was hospitalized for the third time since 45 days of age with fever and a history of recurrent infections. On admission to the hospital, she was well developed with silver-blond hair, much lighter in color than her family (Figure 1). Examination of her eyes revealed blue sclera and hypopigmented retinae. A left-sided otitis media was present. Marked hepatosplenomegaly was found. Findings from the rest of the examination were unremarkable. Leukopenia was noted on a complete blood cell count. A representative sample of the peripheral blood smear is shown in Figure 2.

Denouement and Discussion 

Chédiak-Higashi Syndrome 

CLINICAL MANIFESTATIONS  Chédiak-Higashi syndrome is a rare autosomal recessive disorder characterized by incomplete oculocutaneous albinism and recurrent bacterial infections. The skin and hair coloration is lighter than other unaffected family members and the hair, ranging in color from blond to dark brown, often