Liver involvement in Alpers disease

Title

Liver involvement in Alpers disease

Creator

Narkewicz MR; Sokol RJ; Beckwith B; Sondheimer J; Silverman A

Publisher

The Journal Of Pediatrics

Date

1991

Subject

Child; Female; Humans; Male; Biopsy; Preschool; Syndrome; infant; Q3 Literature Search; Brain/pathology; Liver Function Tests; Diffuse Cerebral Sclerosis of Schilder/diagnosis/metabolism/pathology; Liver/metabolism/pathology; Status Epilepticus/diagnosis/metabolism/pathology

Description

Alpers disease consists of diffuse cerebral degeneration manifested as developmental delay, seizures, vomiting, and progressive neuromuscular deterioration, with liver disease and death. We report the clinical course of the liver disease, histologic progression of the hepatic lesions, and etiologic investigations in five patients (four girls, three kinships). All had grown and developed normally until seen at 6 to 36 months of age (mean 20 months), with vomiting (n = 5), progressive hypotonia (n = 3), or seizures (n = 2). All had been given anticonvulsants, including valproic acid in three. Liver disease was noted at a mean age of 35 months (range 9 to 67 months), with hepatomegaly (two patients), abnormal hepatic synthetic function (three) or transaminase values (three), and cirrhosis in one. Patients survived for a mean of 4.6 weeks (range 1 to 8 weeks) after the identification of liver disease; all died of hepatic failure. Results of evaluation for infectious and metabolic causes of liver disease and causes of degenerative neuromuscular disease were negative in all patients. Premortem liver biopsy specimens (n = 3) demonstrated an early lesion consisting of lobular disarray, microvesicular steatosis, periportal acute and chronic inflammation, and individual hepatocyte necrosis. Autopsy findings (n = 5) consisted of macrovesicular steatosis, massive hepatocyte dropout, and proliferation of bile ductular elements, with almost complete replacement of hepatocytes by proliferating bile ductular elements in two patients. Brain showed characteristic neuronal degeneration. We conclude that Alpers disease can be a cause of rapidly progressive liver failure in early childhood. Although the cause of this autosomal recessive disease is not known, it does not appear to be related to peroxisomal dysfunction.
1991

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

260-267

Issue

2

Volume

119

Citation

Narkewicz MR; Sokol RJ; Beckwith B; Sondheimer J; Silverman A, “Liver involvement in Alpers disease,” Pediatric Palliative Care Library, accessed September 27, 2021, https://pedpalascnetlibrary.omeka.net/items/show/12263.

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