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Picture of the Month

Boaz Amichai, MD; Avraham Zeharia, MD; Marc Mimouni, MD; Ian J. Cohen, MD, ChB; Walter W. Tunnessen Jr, MD
Arch Pediatr Adolesc Med. 1997;151(4):425-426. doi:10.1001/archpedi.1997.02170410099015.
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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


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