 |
|
Infantile Diffuse Cerebral Degeneration With Hepatic Cirrhosis
Peter R. Huttenlocher, MD;
Gilbert B. Solitare, MD;
Gene Adams, MD
Arch Neurol. 1976;33(3):186-192.
Abstract
| |
• Four children had progressive degeneration of the cerebral cortex, with hepatic cirrhosis. They and four previously described ones, are representative of a distinct form of hepatocerebral degeneration. Onset of the neurological disorder is between ages 1 and 3 years, at times with mild developmental delay. Explosive onset of intractable convulsions, leaving the child in a stuporous and demented state, is characteristic. Generalized hypotonia or hemiparesis were observed in several affected children. Clinical evidences of hepatic disease, including ascites and jaundice, occurred late, if at all. The illness ended fatally within ten months of onset of convulsions. Pathological findings in the brain are neuronal loss and gliosis, in a pattern that is indistinguishable from that in degeneration of the cerebral gray matter in infancy (Alpers disease). The hepatic lesions consist of cirrhosis or of subacute hepatitis, with superimposed fatty infiltration of hepatocytes. The disorder is genetically determined, with recessive inheritance.
Author Affiliations
From the departments of pediatrics and neurology (Dr Huttenlocher), and pathology (Dr Solitare), Yale University School of Medicine, New Haven, Conn. Dr Huttenlocher is now with the Department of Pediatrics, University of Chicago.
Footnotes
Accepted for publication Feb 6, 1975.
Reprint requests to Department of Pediatrics, University of Chicago, Box 228, 950 E 59th St, Chicago, IL 60637 (Dr Huttenlocher).
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
|
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase {gamma} (POLG1)
McFarland et al.
Arch. Dis. Child. 2008;93:151-153.
ABSTRACT
| FULL TEXT
Juvenile Alpers Disease
Wiltshire et al.
Arch Neurol 2008;65:121-124.
ABSTRACT
| FULL TEXT
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
Hakonen et al.
Brain 2007;130:3032-3040.
ABSTRACT
| FULL TEXT
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-{gamma}A
Ferrari et al.
Brain 2005;128:723-731.
ABSTRACT
| FULL TEXT
A Mutation in Mitochondrial DNA-Encoded Cytochrome c Oxidase II Gene in a Child With Alpers-Huttenlocher-Like Disease
Uusimaa et al.
Pediatrics 2003;111:e262-268.
ABSTRACT
| FULL TEXT
Current topic: Incidence, aetiology, and outcome of non-traumatic coma: a population based study
Wong et al.
Arch. Dis. Child. 2001;84:193-199.
ABSTRACT
| FULL TEXT
Review Article: Progressive Neuronal Degeneration of Childhood With Liver Disease (Alpers-Huttenlocher Syndrome): A Personal Review
Harding
J Child Neurol 1990;5:273-287.
ABSTRACT
Progressive Neuronal Degeneration of Childhood (PNDC) with Liver Disease
Egger et al.
CLIN PEDIATR 1987;26:167-173.
ABSTRACT
|
