Aicardi syndrome: follow-up investigation of Swedish children born in 1975-2002
| Autor: | B Zetterlund, K Steneryd, A-L Hård, Lars Palmér, M Kyllerman |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Adult
medicine.medical_specialty Pediatrics Adolescent media_common.quotation_subject medicine.medical_treatment Developmental Disabilities Severity of Illness Index Retina Aicardi syndrome Corpus Callosum Epilepsy medicine Humans Epilepsy surgery Girl Agenesis of the corpus callosum Child media_common Retrospective Studies Sweden Corpus Callosum Agenesis business.industry Infant Electroencephalography General Medicine medicine.disease Survival Analysis Surgery El Niño Child Preschool Pediatrics Perinatology and Child Health Female Neurology (clinical) business Ketogenic diet Follow-Up Studies |
| Zdroj: | Neuropediatrics. 38(4) |
| ISSN: | 0174-304X |
| Popis: | Aicardi syndrome has been defined by the triad of agenesis of the corpus callosum, early seizure onset and lacunar chorioretinopathy. In a nation-wide survey a total of 18 Swedish cases were found. Fourteen girls were re-examined by one of the authors at the ages of 1-27 years. One was seizure free following epilepsy surgery operation, 13 were drug resistant. Two were on ketogenic diet. Most of the girls had multifocal EEG discharges. All except one were severely disabled with severe mental retardation and total dependency on helpers for activities of daily life. Communication, nutrition, and motor function were severely affected areas. Visual function was difficult to evaluate because of mental retardation and lack of co-operation and varied from severely impaired to normal. In one case the appearance of the ocular fundus was documented to have changed with time. One girl was exceptional and seizure free with mild mental retardation. An update by March 2006 showed that 12/18 patients were still alive, at a median age of 13.5 years (range: 3-31 years). Six had died between the ages of 3-10 years. They had all suffered from intractable epilepsy and belonged to the most disabled group. Surprisingly two had died from malignant brain tumours. |
| Databáze: | OpenAIRE |
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