Peripheral neuropathy associated with erythrophagocyti c lymphohistiocyto sis

SUMMARY A12 year old patient whodeveloped clinical, biochemical andhistological features of erythrophagocytic lymphohistiocytosis is described. In contrast to previously reported cases, the prominent neurological feature wasa subacute sensorimotor polyneuropathy. Sural nerve biopsy showed a marked reduction ofmyelinated fibres and severe axonal lesions, absence ofhistiocyte infiltration and deposits of IgM along the epineurium. In addition to the hypertriglyceridaemiapreviously described in this condition, an elevation of plasma very long-chain fatty acids and phytanic acid wasfoundwhichsuggests a transient impairment ofperoxisomal functions. Familial erythrophagocytic lymphohistiocytosis is anautosomal recessive disorder characterised by fever,hepatosplenomegaly, pancytopenia and multi-systemic infiltration with benign-appearing histiocytescontainingerythrocytes. Apartfromafew exceptions,' 2 this condition occurs in infancy andisrapidly fatal. Central nervous system (CNS) symp-tomshavebeen