A Severe Case of Dentatorubro-Pallidoluysian Atrophy (DRPLA) with Microcephaly, Very Early Onset of Seizures, and Cerebral White Matter Involvement
| العنوان: | A Severe Case of Dentatorubro-Pallidoluysian Atrophy (DRPLA) with Microcephaly, Very Early Onset of Seizures, and Cerebral White Matter Involvement |
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| المؤلفون: | Nicola Brunetti-Pierri, William J. Craigen, Jill V. Hunter, Angus A. Wilfong |
| المصدر: | Neuropediatrics. 37:308-311 |
| بيانات النشر: | Georg Thieme Verlag KG, 2006. |
| سنة النشر: | 2006 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, Pediatrics, Microcephaly, Disease, Infant, Newborn, Diseases, Central nervous system disease, White matter, Epilepsy, Atrophy, Seizures, Humans, Medicine, Longitudinal Studies, Child, education, education.field_of_study, business.industry, Infant, Newborn, General Medicine, Myoclonic Epilepsies, Progressive, medicine.disease, Magnetic Resonance Imaging, Very early onset, Surgery, Review Literature as Topic, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Atrophin-1, Neurology (clinical), business |
| الوصف: | We report a severe case of Dentatorubro-pallidoluysian atrophy (DRPLA) presenting with microcephaly, developmental delay, severe epilepsy, and progressive mental deterioration with a very early onset of disease. The case is notable for the early detection of white matter changes by brain MRI. Neuroradiological findings from the case were compared to those of previously reported patients with disease onset before 10 years of age. |
| تدمد: | 1439-1899 0174-304X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c4f7653a3ae1838bd66c2affbf64a94Test https://doi.org/10.1055/s-2006-955967Test |
| رقم الانضمام: | edsair.doi.dedup.....2c4f7653a3ae1838bd66c2affbf64a94 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14391899 0174304X |
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