Familial erythrophagocytic lymphohistiocytosis. A neuropathologic study

Acta Neuropathol. 1985;66(2):140-4. doi: 10.1007/BF00688689.


The neuropathologic study of a 7-month-old 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-infectious 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arachnoid / pathology
  • Cerebellum / pathology
  • Demyelinating Diseases / pathology
  • Erythrocytes / pathology*
  • Female
  • Histiocytes / physiology
  • Humans
  • Infant
  • Lymphatic Diseases / genetics*
  • Lymphatic Diseases / pathology
  • Lymphatic Diseases / physiopathology
  • Phagocytosis*
  • Pia Mater / pathology