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

被引：5

作者：

Hofmeister, Benedikt ^{[1
,2
]}

von Stuelpnagel, Celina ^{[3
,4
]}

Berweck, Steffen ^{[1
,5
]}

Abicht, Angela ^{[6
]}

Kluger, Gerhard ^{[3
,5
]}

Weber, Peter ^{[7
]}

机构：

[1] Ludwig Maximilian Univ Munich, Munich, Germany

[2] Munich Hosp Bogenhausen, Hosp Gastroenterol Hepatol & Gastroenterol Oncol, Munich, Germany

[3] Paracelsus Private Med Univ Salzburg, Inst Transit Rehabil & Palliat, Salzburg, Austria

[4] Univ Hosp Munich, Comprehens Epilepsy Program Children, Div Pediat Neurol Dev Med & Social Pediat, LMU Munich,Dept Pediat, Munich, Germany

[5] Schoen Klin Vogtareuth, Ctr Epilepsy Children & Adolescents, Hosp Neuropediat & Neurol Rehabil, Vogtareuth, Germany

[6] MGZ Med Genet Ctr, Munich, Germany

[7] Univ Childrens Hosp Basel, Dept Neuropediat & Dev Pediat, Basel, Switzerland

来源：

NEUROPEDIATRICS | 2020年 / 51卷 / 01期

关键词：

Nicolaides-Baraitser syndrome; SMARCA2; mutation; cooccurrence of two genetic diseases; POLG1-related effect; valproic acid hepatotoxicity; POLYMERASE GAMMA; GENOTYPE;

D O I：

10.1055/s-0039-1694976

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 gamma ( 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.

引用

页码：49 / 52

页数：4