Neuropediatrics 2011; 42(05): 194-196
DOI: 10.1055/s-0031-1287812
Short Communication
© Georg Thieme Verlag KG Stuttgart · New York

Bowel Obstruction in Patients with Alpers-Huttenlocher Syndrome

J. Spiegler
1   Neuropädiatrie, Klinik für Kinder- und Jugendmedizin, Universität zu Lübeck, Germany
,
I. Stefanova
2   Institut für Humangenetik, Universität zu Lübeck, Germany
,
Y. Hellenbroich
2   Institut für Humangenetik, Universität zu Lübeck, Germany
,
J. Sperner
3   Schwerpunktpraxis Neuropädiatrie, Lübeck, Germany
› Author Affiliations
Further Information

Publication History

received 14 July 2011

accepted 03 September 2011

Publication Date:
17 October 2011 (online)

Abstract

Alpers-Huttenlocher syndrome (AHS) is a very rare autosomal recessive disorder. AHS is caused by homozygous or compound heterozygous mutations in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG, chromosome 15q25). Most patients become symptomatic before the age of 2 years. We report 3 patients who were treated in our clinic between 2007 and 2010. All patients suffered from myoclonic seizures and had at least one refractory convulsive status which led to the diagnosis. All of them had varying degrees of developmental delay, 2 of them additionally ataxia. Gastrointestinal motility problems were severe in all patients despite only mildly deranged liver function. While in most aspects our patients present with typical AHS features, they also share intestinal problems, a feature that has not been recognized as typical for AHS before. AHS is a multisystem disorder that does affect all cell systems. Liver and brain are organs with the highest energy demand and are therefore usually affected early in the disease course of AHS. However, constipation and bowel obstruction should be regarded as typical complications in AHS and patients should be monitored and treated to improve quality of life. Regarding treatment options for epilepsy in AHS ketogenic diet as well as lacosamide might be considered.

 
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