A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency.

Abstract:

:Familial hemophagocytic lymphohistiocytosis (FHLH) is an autosomal recessive disorder of cytotoxic cell function that results in abnormal proliferation of benign lymphocytes and histiocytes in response to infectious stimuli. FHLH generally occurs in very young children, and typically presents with fever, cytopenias, coagulopathy, lymphadenopathy, and hepatosplenomegaly. Central nervous system involvement occurs frequently and may precede the development of systemic symptoms by months to years. We report a case of an 18-year-old male with a 2-year history of symptoms attributed to a demyelinating disorder, who succumbed to rapidly progressive hemophagocyte lymphohistiocytosis. Post-mortem, two distinct perforin mutations were identified. We discuss the central nervous system and genetic findings in this unusual presentation of familial hemophagocytic lymphohistiocytosis.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Beaty AD,Weller C,Levy B,Vogler C,Ferguson WS,Bicknese A,Knutsen AP

doi

10.1002/pbc.21438

subject

Has Abstract

pub_date

2008-05-01 00:00:00

pages

1070-2

issue

5

eissn

1545-5009

issn

1545-5017

journal_volume

50

pub_type

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