Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis
| Autor: | Jean-Philippe Puech, Antoinette Gelot, Elisa Lopez Hernandez, Hala Nasser, Catherine Caillaud, Stéphane Auvin, Adina Ilea, Samia Pichard, Blandine Dozières-Puyravel, Catherine Delanoë, Monique Elmaleh-Bergès |
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| Rok vydání: | 2018 |
| Předmět: |
Male
030506 rehabilitation Pediatrics medicine.medical_specialty Disease Electroencephalography 03 medical and health sciences 0302 clinical medicine Developmental Neuroscience Neuronal Ceroid-Lipofuscinoses medicine Humans Intermittent photic stimulation Retrospective Studies medicine.diagnostic_test Tripeptidyl-Peptidase 1 business.industry Brain Infant Magnetic resonance imaging Retrospective cohort study medicine.disease Magnetic Resonance Imaging Neuronal Ceroid Lipofuscinosis Type 2 Disease Presentation Child Preschool Pediatrics Perinatology and Child Health Neuronal ceroid lipofuscinosis Female Neurology (clinical) 0305 other medical science business 030217 neurology & neurosurgery |
| Zdroj: | Developmental medicine and child neurologyReferences. 62(4) |
| ISSN: | 1469-8749 |
| Popis: | Neuronal ceroid lipofuscinoses (NCLs) are rare, progressive disorders. Through this series of 20 patients with NCL, we illustrate differences between subtypes in their presenting symptoms and clinical, imaging, and electrophysiological results to raise awareness of symptom diversity. Data were available on presenting symptoms, genetics, magnetic resonance imaging (MRI), electroencephalography (including with low-frequency intermittent photic stimulation), visual responses, and electron microscopy. Causal mutations were identified in 10 patients. Eleven patients had neuronal ceroid lipofuscinosis type 2 (CLN2) disease and their most common presenting symptom was seizures, although motor and language defects were also reported. Five patients with CLN2 disease showed abnormalities at initial MRI, but only three showed a photic response with low-frequency stimulation. Seizures were not as common a presenting symptom in other NCL subtypes. Patients with NCLs present with diverse symptoms, which may not be characteristic in early disease stages. These signs and symptoms should lead to rapid diagnostic confirmatory testing for NCLs. WHAT THIS PAPER ADDS: Disease presentation is not uniform for neuronal ceroid lipofuscinoses. Characteristic clinical test results may not be identified in early disease stages. |
| Databáze: | OpenAIRE |
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