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Epilepsy in fragile‐X‐syndrome mimicking panayiotopoulos syndrome: Description of three patients
Author(s) -
Bonanni Paolo,
Casellato Susanna,
Fabbro Franco,
Negrin Susanna
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38373
Subject(s) - ictal , epilepsy , rolandic epilepsy , pediatrics , electroencephalography , fragile x syndrome , epilepsy syndromes , medicine , anticonvulsant , psychology , audiology , psychiatry
Fragile‐X‐syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10–20% of individuals with Fragile‐X‐syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile‐X‐syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile‐X‐syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission.