Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene

Thea Giacomini, Maria Stella Vari, Sara Janis, Giulia Prato, Livia Pisciotta, Alessia Rocchi, Angela Michelucci, Maja Di Rocco, Paolo Gandullia, Girolamo Mattioli, Oliviero Sacco, Giovanni Morana, Maria Margherita Mancardi

Research output: Contribution to journalArticle

Abstract

The X-linked alpha thalassemia mental retardation (ATR-X) syndrome is a genetic disorder caused by X-linked recessive mutations in ATRX gene, related to a wide spectrum of clinical manifestations, such as alpha thalassemia, developmental delay, genital abnormalities, and gastrointestinal disorders. Patients with ATR-X syndrome can suffer from different types of epileptic seizures, but a severe epileptic encephalopathy pattern has not been described to date. We describe, for the first time, two brothers with genetically confirmed ATR-X syndrome who presented with drug-resistant epileptic encephalopathy, with tonic and polimorphic seizures reported in the elder brother and epileptic spasms in the younger brother. Moreover, both brothers showed a peculiar movement disorder with myoclonus-dystonia, worsened during periods of distress or pain. These cases expand the clinical spectrum of ATR-X syndrome and open new opportunities for the molecular diagnosis of ATRX mutations in male patients with severe epileptic encephalopathies and movement disorders.

Original languageEnglish
Pages (from-to)327-331
Number of pages5
JournalNeuropediatrics
Volume50
Issue number5
DOIs
Publication statusPublished - Oct 1 2019

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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