This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Harding, B. N. Search for Related Content PubMed PubMed Citation Articles by Harding, B. N. Social Bookmarking                   What's this?

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

Department of Neuropathology, Institutes of Child Health and Neurology, London, England

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. (J Child Neurol 1990;5:273-287).

Journal of Child Neurology, Vol. 5, No. 4, 273-287 (1990)
DOI: 10.1177/088307389000500402


CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

				E. Wiltshire, G. Davidzon, S. DiMauro, H. O. Akman, L. Sadleir, L. Haas, J. Zuccollo, A. McEwen, and D. R. Thorburn Juvenile Alpers Disease Arch Neurol, January 1, 2008; 65(1): 121 - 124. [Abstract] [Full Text] [PDF]

				K. Murray, S. Shorvon, C. Smith, R. Roberts, and C. Warlow A young man with bilateral epilepsia intractable and partialis continua Practical Neurology, February 1, 2006; 6(1): 34 - 41. [Full Text] [PDF]

				K. V. Nguyen, E. Ostergaard, S. H. Ravn, T. Balslev, E. R. Danielsen, A. Vardag, P. J. McKiernan, G. Gray, and R. K. Naviaux POLG mutations in Alpers syndrome Neurology, November 8, 2005; 65(9): 1493 - 1495. [Abstract] [Full Text] [PDF]

				J te Water Naude, C M Verity, R G Will, G Devereux, and L Stellitano Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers' syndrome? An analysis of a national surveillance study J. Neurol. Neurosurg. Psychiatry, June 1, 2004; 75(6): 910 - 913. [Abstract] [Full Text] [PDF]

				M. Rasmussen, T. Sanengen, K. Skullerud, E. A. Kvittingen, and O. H. Skjeldal Evidence That Alpers-Huttenlocher Syndrome Could Be a Mitochondrial Disease J Child Neurol, July 1, 2000; 15(7): 473 - 477. [Abstract] [PDF]

				A. A. M. Morris, R. Singh-Kler, R. H. Perry, P. D. Griffiths, A. D. Burt, Chee Piau Wong, D. Gardner-Medwin, and D. M. Tumbull Respiratory Chain Dysfunction in Progressive Neuronal Degeneration of Childhood With Liver Disease J Child Neurol, September 1, 1996; 11(5): 417 - 419. [PDF]