Neuropediatrics 2019; 50(05): 327-331
DOI: 10.1055/s-0039-1692141
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

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

Thea Giacomini
1  Unit of Child Neuropsychiatry, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genova, Genova, Italy
,
Maria Stella Vari
2  Unit of Neurology and Neuromuscolar Diseases, Department of Clinical and Surgical Neurosciences and Rehabilitation, Istituto Giannina Gaslini, Genova, Italy
,
Sara Janis
1  Unit of Child Neuropsychiatry, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genova, Genova, Italy
,
Giulia Prato
3  Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genova, Italy
,
Livia Pisciotta
1  Unit of Child Neuropsychiatry, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genova, Genova, Italy
,
Alessia Rocchi
4  Unit of First Aid, Newborn and Children Area, Department of Woman, Child and Newborn, IRCCS Ca' Granda Maggiore Policlinico Hospital, Milan, Italy
,
Angela Michelucci
5  Laboratory of Medical Genetic Unit, Azienda Ospedaliero Universitaria Pisana, S. Chiara Hospital, Pisa, Italy
,
Maja Di Rocco
6  Unit of Rare Diseases, Department of Pediatrics, IRCSS Istituto Giannina Gaslini, Genova, Italy
,
Paolo Gandullia
7  Unit of Gastroenterology, IRCSS Istituto Giannina Gaslini, Genova, Italy
,
Girolamo Mattioli
8  Unit of Surgery, IRCSS Istituto Giannina Gaslini, Genova, Italy
,
Oliviero Sacco
9  Unit of Pneumology, IRCSS Istituto Giannina Gaslini, Genova, Italy
,
Giovanni Morana
10  Unit of Neuroradiology, IRCSS Istituto Giannina Gaslini, Genova, Italy
,
Maria Margherita Mancardi
3  Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genova, Italy
› Author Affiliations
Further Information

Publication History

27 December 2018

05 April 2019

Publication Date:
18 July 2019 (online)

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.

Supplementary Material