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Acute encephalopathy as a primary manifestation of haemophagocytic lymphohistiocytosis
Author(s) -
Kieslich Matthias,
Vecchi Marilena,
Driever Pablo Hernaiz,
Laverda Anna Maria,
Schwabe Dirk,
Jacobi Gert
Publication year - 2001
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2001.tb00760.x
Subject(s) - pancytopenia , hepatosplenomegaly , medicine , encephalopathy , pediatrics , histiocyte , disease , status epilepticus , hemophagocytic lymphohistiocytosis , hydrocephalus , encephalitis , pathology , immunology , surgery , bone marrow , epilepsy , psychiatry , virus
Haemophagocytic lymphohistiocytosis (HLH) is characterized anatomically by an infiltration of multiple tissues with lymphocytes and haemophagocytic histiocytes. First symptoms are usually hepatosplenomegaly, pancytopenia, and intractable fever. Up to 73% of those with HLH develop CNS involvement during the disease course. The peculiarity of the two patients presented here, a 20‐month‐old Italian female and a 4‐year‐old Moroccan female, is that the initial presenting neurological symptoms mimicked an encephalitis, anticipating the typical systemic symptoms by 1 and 4 months. They developed progressive encephalopathy accompanied by status epilepticus, one child developed a secondary hydrocephalus. In both children it was not possible to detect an underlying infection or malignant disease and there were no other cases in the family that suggested a familial form of HLH. Diagnosis and initiation of treatment was delayed because of the initial encephalopathic clinical picture and the late onset of the typical systemic features. As early diagnosis allows better therapeutical approaches, haemophagocytic lymphohistiocytosis should be considered in children with persistent or progressive findings of encephalopathy, especially in the absence of identification of a plausible pathogen.