, Volume 66, Issue 2, pp 140-144

Familial erythrophagocytic lymphohistiocytosis

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Summary

The neuropathologic study of a 7-monthold female patient affected by familial erythrophagocytic lymphohistiocytosis (FEL) reveals three main features: (1) a lymphohistiocytic leptomeningitis with erythrophagocytosis; (2) perivascular lymphohistiocytic cuffs in the cerebral and cerebellar white matter and, to a lesser extent, in the thalamus, the reticular formation of the brain stem and the griseum pontis; (3) perifocal gliosis and demyelination, especially in the cerebellar white matter.

The lesions remind of the perivenous post-in-fectious encephalomyelitides. Perifocal demyelination has been reported in FEL very seldom. Although its pathogenesis is not known, immune mechanisms could play a role by analogy with perivenous encephalomyelitis.

Supported by grant no. 3.0004.81 from the “Fonds voor Geneeskundig Wetenschappelijk Onderszoek”