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Neuropediatrics 2020; 51(01): 049-052
DOI: 10.1055/s-0039-1694976
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides–Baraitser Syndrome (SMARCA2 Mutation)—Due to a POLG1-Related Effect?

Benedikt Hofmeister‡   *
1   Ludwig Maximilian University of Munich, Munich, Germany
2   Munich Hospital Bogenhausen, Hospital for Gastroenterology, Hepatology and Gastroenterological Oncology, Munich, Germany
,
Celina von Stülpnagel   *
3   Institute for Transition, Rehabilitation and Palliation, Paracelsus Private Medical University of Salzburg, Salzburg, Austria
4   Comprehensive Epilepsy Program for Children, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, University Hospital Munich, LMU Munich, Germany
,
Steffen Berweck
1   Ludwig Maximilian University of Munich, Munich, Germany
5   Hospital for Neuropediatrics and Neurological Rehabilitation, Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Vogtareuth, Germany
,
Angela Abicht
6   MGZ—Medical Genetics Center, Munich, Germany
,
Gerhard Kluger
3   Institute for Transition, Rehabilitation and Palliation, Paracelsus Private Medical University of Salzburg, Salzburg, Austria
5   Hospital for Neuropediatrics and Neurological Rehabilitation, Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Vogtareuth, Germany
,
Peter Weber
7   Department of Neuropediatrics and Developmental Pediatrics, University Children's Hospital Basel, Basel, Switzerland
› Author Affiliations
Further Information

Publication History

12 April 2019

14 June 2019

Publication Date:
21 September 2019 (online)

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Abstract

Nicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ (POLG) might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a POLG1 mutation in combination with a liver hepatotoxicity. The co-occurrence in children for two different genetic diseases is discussed with the help of literature review.

Keywords

Nicolaides–Baraitser syndrome - SMARCA2 mutation - cooccurrence of two genetic diseases - POLG1-related effect - valproic acid hepatotoxicity

* Both authors contributed equally to the manuscript.


Supplementary Material

 

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