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Published in: Acta Neurologica Belgica 1/2017

01-03-2017 | Letter to the Editor

Late-onset of Alpers-Huttenlocher syndrome: an unusual cause of refractory epilepsy and liver failure

Authors: Frédéric London, Nawal Hadhoum, Olivier Outteryck, Patrick Vermersch, Hélène Zéphir

Published in: Acta Neurologica Belgica | Issue 1/2017

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Excerpt

Alpers-Huttenlocher syndrome (AHS) is an uncommon inherited mitochondrial disease characterized by a clinical triad: refractory epilepsy, hepatopathy and progressive psychomotor regression [1]. It usually occurs in infancy or early childhood while juvenile-onset is rare. We present a 16 years old girl with refractory epilepsy in whom the diagnosis was suspected because of acute liver dysfunction. …
Literature
2.
go back to reference Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K (2008) Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome. Epilepsia 49:1038–1045CrossRefPubMed Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K (2008) Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome. Epilepsia 49:1038–1045CrossRefPubMed
3.
go back to reference Nguyen KV, Østergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK (2005) POLG mutations in Alpers syndrome. Neurology 8:1493–1495CrossRef Nguyen KV, Østergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK (2005) POLG mutations in Alpers syndrome. Neurology 8:1493–1495CrossRef
4.
go back to reference Chan SS, Longley MJ, Copeland WC (2005) The common 1467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem 280:31341–31346CrossRefPubMed Chan SS, Longley MJ, Copeland WC (2005) The common 1467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem 280:31341–31346CrossRefPubMed
5.
go back to reference Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Wintherthun S, Ferrari G, Aarseth JH, Bindoff LA (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129:1685–1692CrossRefPubMed Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Wintherthun S, Ferrari G, Aarseth JH, Bindoff LA (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129:1685–1692CrossRefPubMed
6.
go back to reference Stewart JD, Horvath R, Baruffini E, Ferrero I, Bulst S, Watkins PB, Fontana RJ, Day CP, Chinnery PF (2010) Polymerase gamma gene POLG determines the risk of sodium-valproate-induced liver toxicity. Hepatology 52:1791–1796CrossRefPubMed Stewart JD, Horvath R, Baruffini E, Ferrero I, Bulst S, Watkins PB, Fontana RJ, Day CP, Chinnery PF (2010) Polymerase gamma gene POLG determines the risk of sodium-valproate-induced liver toxicity. Hepatology 52:1791–1796CrossRefPubMed
7.
go back to reference Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA (2008) POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131:818–828CrossRefPubMed Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA (2008) POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131:818–828CrossRefPubMed
Metadata
Title
Late-onset of Alpers-Huttenlocher syndrome: an unusual cause of refractory epilepsy and liver failure
Authors
Frédéric London
Nawal Hadhoum
Olivier Outteryck
Patrick Vermersch
Hélène Zéphir
Publication date
01-03-2017
Publisher
Springer International Publishing
Published in
Acta Neurologica Belgica / Issue 1/2017
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-016-0672-8

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