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

Hofmeister, Benedikt; Stülpnagel, Celina von; Berweck, Steffen; Abicht, Angela; Kluger, Gerhard und Weber, Peter (2020): Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome ( SMARCA2 Mutation)-Due to a POLG1 -Related Effect? In: Neuropediatrics, Bd. 51, Nr. 1: S. 49-52

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 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.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0174-304X
• Sprache: Englisch