Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
Neuropediatrics
; 50(5): 327-331, 2019 10.
Article
em En
| MEDLINE
| ID: mdl-31319423
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Puberdade Precoce
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Epilepsias Mioclônicas
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Talassemia alfa
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Distúrbios Distônicos
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Deficiência Intelectual Ligada ao Cromossomo X
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Proteína Nuclear Ligada ao X
Limite:
Child
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Humans
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Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article