ENCEPHALOMYELITIS IN PRIMARY HYPOGAMMAGLOBULINEMIA

The neurological features of 13 patients with primary hypogammaglobuli naemia ave described. Seven patients had X-linked agammaglobulinaemia (XLA) and six had common variable immunodeficiency (CVID). Three clini cal pictures emerged: (i) a progressive myelopathy (one case); (ii) a myelopathy progressing to an encephalopathy (four cases); (iii) a pure encephalopathy (eight cases). In four patients the encephalopathy was temporarily reversible; the relationship of this to immunoglobulin th erapy is unclear Additional features occurred in some patients. Three had a retinopathy interpreted as retinitis pigmentosa, in one of whom the retinopathy resolved Two patients had a sensori-neural hearing los s and three had features of dermatomyositis; a variable pleocytosis wa s found in the CSF of nine patients. Imaging revealed atrophic changes in the cerebral hemispheres in eight cases. Ten patients have died, 1 -11 years after the onset of the CNS manifestations, and in four autop sies were obtained, Two patients had an encephalopathy, one with XLA h ad evidence of end-stage encephalitis and the other with CVID had a mu lti-focal leucoencephalopathy. The other two with XLA had leptomeningi tis without evidence of encephalitis. Enteroviral infection is probabl y an important cause of neurological disease in these patients as CSF from seven patients was either positive by polymerase chain reaction ( PCR) or by culture for enteroviruses. Other possible mechanisms are di scussed.