The Syndrome of Progressive Cerebral Poliodystrophy

Abstract

Case 1.-A 4¡/¿-year-old white female was hos¬ pitalized because of a severe generalized convul¬ sion which occurred during the course of a mild febrile illness. Her birth, early development, and previous medical history had been without incident. No abnormal neurologic signs were noted, and ex¬ amination of her CSF was unremarkable. Five days later she developed delirium, intermittent stupor, restlessness, and spasticity. At the time of death, 16 days after onset, her temperature was 111 F (43.9 C). Death was due to bilateral bronchopneumonia. The brain was grossly normal and weighed 1,190 gm (normal for this age). Micro¬ scopically there was widespread neuronal damage, characterized by swelling, pallor, vacuolization, or complete disappearance, most severe in the frontal and temporal lobes. Rod cells and astrocytes were increased throughout the cerebral cortex. Similar changes were present in the thalamus and olivary and dentate nuclei. The cerebellar cortex and white matter in all areas were normal. There was no * Cited by permission of H. D. Palmer, MD, Denver, and previously published as a clinicalpathological report.8

Oxidative Phosphorylation Diseases

“…Both Leigh's and Alpers' disease have CNS lesions with gliosis, spongiosis, necrosis, or capillary proliferation (Pincus, 1972;Montpetit et al, 1971;Jellinger and Seitelberger, 1970;Greenhouse and Neubuerger, 1964;Egger et al, 1987;Sandbank and Lerman, 1972). Neuropathologically, the primary point of differentiation between Leigh's disease and Alpers' disease is the severity of involvement of certain brain regions (Table I).…”

Progressive cerebral poliodystrophy - Alpers' disease: Disorganized giant neuronal mitochondria on electron microscopy

“…There is still some confusion as to the nosological position of the latter disease. Recently Jellinger and Seitelberger (1970) classified the rather ill-defined group of disorders of 'progressive degeneration of the cerebral cortex', or Alpers' disease, into three groups: Group I The symptomatic form in which evidence points to a causal factor, with a history of complicated birth (Greenhouse and Neubuerger, 1964) or seizures and infections (Wefring and Lamvik, 1967) preceding the nervous system lesions. Group 2 The idiopathic type.…”

“…Since the description by Alpers (1931) of a case of 'diffuse progressive degeneration of the gray matter of the cerebrum', a few similar cases have been reported (Christensen and Krabbe, 1949;Ford, Livingston, and Pryles, 1951;Norman, 1958;Alpers, 1960;Blackwood, Buxton, Cumings, Robertson and Tucker, 1963;Greenhouse and Neubuerger, 1964;Laurence and Cavanagh, 1968). The nosology of this entity remains, however, unsolved.…”

Congenital adrenal hyperplasia. Report of a case with neurological complications.

“…According to Ford, Livingstone, and Pryles (1951), Alpers' disease occurs in two forms: infantile and juvenile. The infantile form is characterized by early onset, mental retardation, convulsions, spasticity, choreoathetosis, ataxia, myoclonic jerks, blindness, and optic atrophy (Alpers, 1960;Greenhouse and Neubuerger, 1964). The main pathological change is cortical atrophy with or without cerebellar involvement.…”

“…The hippocampus is likewise less severely involved. As a rule, the midbrain, pons, medulla, and spinal cord show no gross change (Wolf and Cowen, 1954;Noetzel, 1957;Greenhouse and Neubuerger, 1964;Laurence and Cavanagh, 1968). Other pathological aspects have been discussed by Ford et al (1951) and Blackwood et al (1963).…”