SUBACUTE NECROTIZING ENCEPHALOPATHY (LEIGH-SYNDROME) - REPORT OF 2 JUVENILE CASES WITH FATAL OUTCOME

The clinical and pathological findings of two children diagnosed on au topsy with subacute necrotizing encephalopathy (SNE) are presented. On e of the patients was a previously healthy la-year-old boy with a rapi d clinical course and fatal outcome. The second case was a mentally re tarded 13-year-old girl with a positive family history of neurological disease and progressive deterioration. Blain edema, bilaterally symme tric gray-brown areas of spongy degeneration and cavity formation were present in the basal ganglia in both cases. A small cavity was noted in the right inferior olive in Case 2. Mamillary bodies were spared in both cases macroscopically and microscopically. Microscopic sections of the involved areas and the periaqueductal region in Case 2 exhibite d variable degrees of necrosis, spongiosis with a striking proliferati on, and dilatation of the capillaries. Similar changes were noted in t he cerebral cortex of Case 1. Microglial and astrocytic proliferation with some loss of myelin were also noted. The neurons, although reduce d in number, were frequently preserved within the lesions. To our know ledge, only three patients over two years old have been reported in th e literature with an acute clinical course and a fatal outcome. Case 1 is the fourth such case.