Atypical Presentation of Prader-Willi Syndrome with Cerebral Venous Thrombosis: Association or Fortuity?
| العنوان: | Atypical Presentation of Prader-Willi Syndrome with Cerebral Venous Thrombosis: Association or Fortuity? |
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| المؤلفون: | Truttmann Ac, Addor Mc, Hauschild M, Luigi Beretta, Jeannet Py, Philippe Maeder |
| المصدر: | Neuropediatrics. 38:204-206 |
| بيانات النشر: | Georg Thieme Verlag KG, 2007. |
| سنة النشر: | 2007 |
| مصطلحات موضوعية: | congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Electroencephalography, Lesion, Internal medicine, medicine, Humans, Vein, Depression (differential diagnoses), Venous Thrombosis, medicine.diagnostic_test, business.industry, Infant, Newborn, General Medicine, medicine.disease, Cerebral Veins, Magnetic Resonance Imaging, Thrombosis, Hypotonia, nervous system diseases, Surgery, Venous thrombosis, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Cardiology, Female, Neurology (clinical), Blood Gas Analysis, Presentation (obstetrics), medicine.symptom, business, Prader-Willi Syndrome |
| الوصف: | A newborn female born at term was admitted at 28 hours for seizures and generalized hypotonia. Cerebral ultrasound showed a right temporal echogenic lesion confirmed on MRI and thought to be secondary to thrombosis of the vein of Labbé. The EEG showed epileptic discharges over the right temporal region. Extensive thrombotic studies revealed a transiently decreased PTT consistent with a prothrombotic state. The hypotonia did not resolve after the acute phase as expected, raising the possibility of another underlying cause. Because of a peculiar phenotype with almond-shaped eyes and bitemporal depression, Prader-Willi syndrome (PWS) was suspected. Methylation analysis confirmed PWS, FISH analysis excluded a deletion in 15q11-q13, maternal uniparental disomy (UPD) was confirmed. To our knowledge, this is the first report of the association of a neonatal venous thrombosis and a PW Syndrome. |
| تدمد: | 1439-1899 0174-304X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c03555d65972d0c32d600374c802058 https://doi.org/10.1055/s-2007-991149 |
| رقم الأكسشن: | edsair.doi.dedup.....2c03555d65972d0c32d600374c802058 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14391899 0174304X |
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