Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings
| Autor: | L. Van Maldergem, Rja Wanders, David Tuerlinckx, F. Van Hoof, J. J. Martin, Christine Vianey-Saban, A. Bachy, Yves Gillerot, C. Fourneau |
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| Přispěvatelé: | Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 2000 |
| Předmět: |
Liver Cirrhosis
Male medicine.medical_specialty Pathology Cirrhosis Status epilepticus Brain damage Gastroenterology Lipid Metabolism Inborn Errors Fatal Outcome Internal medicine medicine Humans Age of Onset Coma business.industry 3-Hydroxyacyl CoA Dehydrogenases Infant medicine.disease 3-Hydroxyacyl-CoA Dehydrogenase Hypotonia Liver Heart failure Pediatrics Perinatology and Child Health Failure to thrive Female medicine.symptom business |
| Zdroj: | European journal of pediatrics, 159(1-2), 108-112. Springer Verlag European journal of pediatrics |
| ISSN: | 0340-6199 |
| Popis: | We present the clinical, pathological, biochemical, and molecular results on an infant girl with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and data on her deceased elder brother for whom this condition was retrospectively diagnosed. Clinical signs were liver enlargement and elevated liver enzymes, failure to thrive, and neurological disease (coma, seizures) triggered by an infectious stress. In the second child hepatic failure and status epilepticus developed during the onset of a rotavirus gastroenteritis. A barbituric coma was induced, but hypotonia and lack of eye pursuit persisted after suppression of antiepileptic drugs. She ultimately died of heart failure. Unlike previously reported cases, both of these patients had early-onset cirrhosis, and severe neurological disease was observed in the second child. CONCLUSION: Liver cirrhosis and brain damage may be underestimated in cases of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and may occur early in life |
| Databáze: | OpenAIRE |
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