caa a22 4500 475786149 CHVBK 20180406123658.0 cr unu---uuuuu 170329e20000101xx s 000 0 eng 10.1007/s004310050022 doi (NATIONALLICENCE)springer-10.1007/s004310050022 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings [Elektronische Daten] [L. Van Maldergem, D. Tuerlinckx, R. J. Wanders, C. Vianey-Saban, F. Van Hoof, J. -J. Martin, C. Fourneau, Y. Gillerot, A. Bachy] 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. Springer-Verlag Berlin Heidelberg, 2000 Key words Liver cirrhosis nationallicence Peroxisome nationallicence Fatty acid oxidation nationallicence Neuropathology nationallicence Van Maldergem L. Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Allée des Templiers 41, B-6280 Loverval, Belgium e-mail: vmald@skypro.be Tel.: +32-71-473047; Fax: +32-71-471520, BE aut Tuerlinckx D. Department of Pediatrics, Clinique Notre-Dame, Charleroi, Belgium, BE aut Wanders R. J. Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands, NL aut Vianey-Saban C. Unité d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France, FR aut Van Hoof F. Laboratoire des Maladies Métaboliques, Université Catholique de Louvain, Brussels, Belgium, BE aut Martin J. -J Department of Neuropathology, Born-Bunge Foundation, University of Antwerp, Antwerp, Belgium, BE aut Fourneau C. Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Allée des Templiers 41, B-6280 Loverval, Belgium e-mail: vmald@skypro.be Tel.: +32-71-473047; Fax: +32-71-471520, BE aut Gillerot Y. Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Allée des Templiers 41, B-6280 Loverval, Belgium e-mail: vmald@skypro.be Tel.: +32-71-473047; Fax: +32-71-471520, BE aut Bachy A. Department of Pediatrics, Clinique Notre-Dame, Charleroi, Belgium, BE aut https://doi.org/10.1007/s004310050022 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310050022 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Van Maldergem L. Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Allée des Templiers 41, B-6280 Loverval, Belgium e-mail: vmald@skypro.be Tel.: +32-71-473047; Fax: +32-71-471520, BE aut NATIONALLICENCE 700 1- Tuerlinckx D. Department of Pediatrics, Clinique Notre-Dame, Charleroi, Belgium, BE aut NATIONALLICENCE 700 1- Wanders R. J. Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands, NL aut NATIONALLICENCE 700 1- Vianey-Saban C. Unité d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France, FR aut NATIONALLICENCE 700 1- Van Hoof F. Laboratoire des Maladies Métaboliques, Université Catholique de Louvain, Brussels, Belgium, BE aut NATIONALLICENCE 700 1- Martin J. -J Department of Neuropathology, Born-Bunge Foundation, University of Antwerp, Antwerp, Belgium, BE aut NATIONALLICENCE 700 1- Fourneau C. Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Allée des Templiers 41, B-6280 Loverval, Belgium e-mail: vmald@skypro.be Tel.: +32-71-473047; Fax: +32-71-471520, BE aut NATIONALLICENCE 700 1- Gillerot Y. Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Allée des Templiers 41, B-6280 Loverval, Belgium e-mail: vmald@skypro.be Tel.: +32-71-473047; Fax: +32-71-471520, BE aut NATIONALLICENCE 700 1- Bachy A. Department of Pediatrics, Clinique Notre-Dame, Charleroi, Belgium, BE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer