Journal article
Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome.
- Krähenbühl S Department of Clinical Pharmacology, University of Berne, Switzerland. stephan.kraehenbuehl@ikp.unibe.ch
- Kleinle S
- Henz S
- Leibundgut K
- Liechti S
- Zimmermann A
- Wiesmann U
- 1999-09-17
Published in:
- Journal of hepatology. - 1999
Disease Progression
Fatal Outcome
Fatty Liver
Hematopoietic Stem Cells
Hemosiderosis
Humans
Infant, Newborn
Liver Cirrhosis
Male
Pancreatic Diseases
Syndrome
Time Factors
Vacuoles
English
BACKGROUND/AIMS
Pearson's marrow-pancreas syndrome consists of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreas dysfunction. Patients with this disease usually have large deletions of the mitochondrial genome. We report a patient with Pearson's syndrome who had predominantly hepatic manifestations such as microvesicular steatosis, hemosiderosis and rapidly developing cirrhosis.
METHODS
Analysis of the mitochondrial and nuclear genomes, determination of enzyme activities and of the hepatic iron content were performed using standard techniques of molecular biology and biochemistry.
RESULTS
The patient had typical ringed sideroblasts in a bone marrow smear and a 7436-bp deletion of the mitochondrial genome in all tissues investigated, compatible with Pearson's syndrome. He died within 3 months after birth due to liver failure. Histopathological analysis of the liver revealed complete cirrhosis with signs of chronic cholestasis, microvesicular steatosis and massive hemosiderosis. In addition, the patient was heterozygous for the C282Y and H63D mutations of the hemochromatosis gene.
CONCLUSIONS
Pearson's syndrome should be added to the list of neonatal diseases which can cause microvesicular steatosis, hepatic accumulation of iron and liver cirrhosis.
Pearson's marrow-pancreas syndrome consists of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreas dysfunction. Patients with this disease usually have large deletions of the mitochondrial genome. We report a patient with Pearson's syndrome who had predominantly hepatic manifestations such as microvesicular steatosis, hemosiderosis and rapidly developing cirrhosis.
METHODS
Analysis of the mitochondrial and nuclear genomes, determination of enzyme activities and of the hepatic iron content were performed using standard techniques of molecular biology and biochemistry.
RESULTS
The patient had typical ringed sideroblasts in a bone marrow smear and a 7436-bp deletion of the mitochondrial genome in all tissues investigated, compatible with Pearson's syndrome. He died within 3 months after birth due to liver failure. Histopathological analysis of the liver revealed complete cirrhosis with signs of chronic cholestasis, microvesicular steatosis and massive hemosiderosis. In addition, the patient was heterozygous for the C282Y and H63D mutations of the hemochromatosis gene.
CONCLUSIONS
Pearson's syndrome should be added to the list of neonatal diseases which can cause microvesicular steatosis, hepatic accumulation of iron and liver cirrhosis.
- Language
-
- English
- Open access status
- closed
- Identifiers
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- DOI 10.1016/s0168-8278(99)80050-6
- PMID 10488717
- Persistent URL
- https://folia.unifr.ch/global/documents/260530
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