Familial Progressive Poliodystrophy with Cirrhosis of the Liver

Wefring, Karl W.; Lamvik, Jon

doi:10.1111/j.1651-2227.1967.tb15380.x

Cited by 25 publications

(5 citation statements)

References 12 publications

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“…This, together with the distribution of the lesions, would appear to distinguish them. The association of hepatic and cerebral lesions in the present case and case 1 of Jellinger and Seitelberger (1971), as well as in a number of cases previously reported as Alpers' disease or progressive poliodystrophy by Ford, Livingstone, and Pryles (1951), Blackwood, Buxton, Robertson, and Tucker (1963), Dreifuss and Netsky (1964), Laurence and Cavanagh (1968), and Wefring and Lamvik (1967), is a finding of special interest. It raises the question of an aetiological factor common to both cerebral and hepatic lesions.…”

supporting

confidence: 71%

Spongy glio-neuronal dystrophy: a degenerative disease of the nervous system

Hopkins

Turner

1973

Journal of Neurology, Neurosurgery & Psychiatry

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SUMMARY A case of spongy glio-neuronal dystrophy is reported. The clinical features included mental and motor retardation in early infancy after a normal birth, and from the age of 4 years increasingly severe attacks of multifocal epilepsy, with prolonged postictal coma, myoclonic twitching and nystagmus, and at times hemiplegia for one to two weeks. Acidosis was present during the periods of postictal coma. Jaundice occurred several days before death at the age of 5 years. Neuropathological examination revealed severe spongy degeneration in the thalamus and dentate nucleus, and the cerebral cortex to a lesser degree, with sparing of the white matter. There was partial necrosis of liver cells and in some areas regenerative nodules. Possible aetiological factors linking the cerebral and hepatic pathology are discussed.

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supporting

confidence: 71%

Spongy glio-neuronal dystrophy: a degenerative disease of the nervous system

Hopkins

Turner

1973

Journal of Neurology, Neurosurgery & Psychiatry

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“…In this series, the use of valproate appears quite irrelevant to the outcome, as most graphically illustrated in two pairs of siblings (cases 13 But if cortical damage is not the result of epilepsy and hepatopathy is not related to antiepileptic drugs, could hepatotoxicity lead to cerebral degeneration ? Jellinger15 denied this on morphologic grounds.…”

Section: Discussionmentioning

confidence: 95%

Review Article: Progressive Neuronal Degeneration of Childhood With Liver Disease (Alpers-Huttenlocher Syndrome): A Personal Review

1990

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Thirty-two autopsied cases of progressive neuronal degeneration of childhood with liver disease are reviewed. The typical clinical course is intractable seizures and liver failure following a period of developmental delay and failure to thrive in early infancy, but some children first present with seizures. Characteristic changes on the electroencephalogram, loss of visual-evoked potentials, occipital atrophy on computed tomographic scan, and particular changes on liver biopsy may assist diagnosis. Most patients succumb in less than 3 years, but some have a protracted survival into their teens, and very rarely they may present in early adulthood. Liver pathology comprises fatty change, hepatocyte loss, bile duct proliferation, fibrosis, and often cirrhosis. Gradual progression can be followed in sequential biopsies. Macroscopically, the cerebral cortex is variably involved, but usually there is patchy thinning and discoloration, with a striking predilection for the striate cortex. Microscopic changes include spongiosis, neuronal loss, and astrocytosis, which progresses down through the cortical layers. All areas may be affected but the calcarine cortex is usually most affected. Etiology is still obscure, though mitochondrial and slow viral disorders have been postulated.

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“…1), basal ganglia, b r a i n stem a n d c e r e b e l l u m . Cases 1 and 3 above, plus 16 others [3,9,13,14,22,28] had histologically proven hepatic cirrhosis. The changes described (Fig.…”

Section: Casementioning

confidence: 96%

Progressive neuronal degeneration of childhood (Alpers syndrome) with hepatic cirrhosis

Wilson¹,

McGibben²,

Hicks³

et al. 1993

Eur J Pediatr

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Four children, from two families, suffered from fatal degeneration of the cerebral grey matter. Their disease was characterised by intractable epilepsy, epilepsia partialis continua, progressive deterioration, and terminal hepatic dysfunction. EEG showed marked and distinctive slow wave abnormality, visual evoked responses were diminished, and cerebral atrophy was seen on CT scan. Pathological findings were of neuronal loss and hepatic cirrhosis. The combination of cerebral degeneration, hepatic disease and familial occurrence suggests an inborn error of metabolism with autosomal recessive inheritance. The features described are those of Alpers syndrome, especially the recently delineated subgroup with progressive neuronal degeneration and liver disease.

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Familial Progressive Poliodystrophy with Cirrhosis of the Liver

Cited by 25 publications

References 12 publications

Spongy glio-neuronal dystrophy: a degenerative disease of the nervous system

Spongy glio-neuronal dystrophy: a degenerative disease of the nervous system

Review Article: Progressive Neuronal Degeneration of Childhood With Liver Disease (Alpers-Huttenlocher Syndrome): A Personal Review

Progressive neuronal degeneration of childhood (Alpers syndrome) with hepatic cirrhosis

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