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

European Journal of Pediatrics
D C WilsonI V Allen

Abstract

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.

References

Apr 26, 1979·The New England Journal of Medicine·F J SuchyK E Bove
Mar 1, 1976·Archives of Neurology·P R HuttenlocherG Adams
Aug 1, 1991·The Journal of Pediatrics·M R NarkewiczA Silverman
Apr 1, 1987·Clinical Pediatrics·J EggerM Erdohazi
Sep 1, 1986·The Japanese Journal of Psychiatry and Neurology·J Aicardi
Jul 1, 1986·Journal of Child Neurology·J Boulloche, J Aicardi
Nov 1, 1986·Acta Neurologica Scandinavica·K LühdorfA M Plesner
Feb 1, 1986·Brain : a Journal of Neurology·B N HardingM Erdohazi
Dec 1, 1972·Journal of Neurology, Neurosurgery, and Psychiatry·U Sandbank, P Lerman
Feb 1, 1973·Journal of Neurology, Neurosurgery, and Psychiatry·I J Hopkins, B Turner
Jul 1, 1974·Archives of Disease in Childhood·I Janota
Jan 1, 1970·Acta Neuropathologica·K Jellinger, F Seitelberger
Jul 1, 1968·The Journal of Pathology and Bacteriology·A H CameronB S Wood
Jun 1, 1968·Brain : a Journal of Neurology·K M Laurence, J B Cavanagh
Jan 1, 1969·Archives of Neurology·K Suzuki, I Rapin
May 1, 1967·Acta paediatrica Scandinavica·K W Wefring, J O Lamvik
Aug 1, 1960·Archives of Disease in Childhood·M C LIU, P E SYLVESTER
Jun 1, 1963·Archives of Disease in Childhood·W BLACKWOODS M TUCKER
Jan 1, 1964·Archives of Neurology·A H GREENHOUSE, K T NEUBUERGER
Jun 1, 1964·American Journal of Diseases of Children·F E DREIFUSS, M G NETSKY
Jan 1, 1949·Archives of Neurology and Psychiatry·E CHRISTENSEN, K H KRABBE

❮ Previous
Next ❯

Citations

Sep 1, 1993·Metabolic Brain Disease·N Seiler, G Daune-Anglard
May 1, 1997·Pediatric Neurology·M J SchwabeD L Armstrong
Jan 6, 2011·Epilepsia·Alla A Vein, Walter van Emde Boas
Jan 16, 1999·Baillière's Clinical Gastroenterology·J R Poley, M J Nowicki
Aug 2, 2000·Journal of Child Neurology·M RasmussenO H Skjeldal
Apr 27, 2005·Prenatal Diagnosis·Jocelyne de LaveaucoupetPhilippe Labrune
Jul 2, 2019·International Journal of Tryptophan Research : IJTR·Adrian C Williams, Lisa J Hill
Jan 5, 2005·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Frances V White, Louis P Dehner
Jul 8, 2011·Archives of Pathology & Laboratory Medicine·Linsheng ZhangDaynna J Wolff

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.