ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum
| Autor: | Marco Pavanello, Alessia Aiello, Maria Stella Vari, Alessandro Rimini, Paolo Moretti, Valeria Capra, Antonella Palmieri, Alice Grossi, Sara Uccella, Pasquale Striano, Silvia Pederzoli, Maja Di Rocco, Luca A. Ramenghi, Isabella Ceccherini, Thea Giacomini, Giulia Prato, Domenico Tortora, Andrea Moscatelli, Carlo Gandolfo, Paolo Picco, Francesca Minoia, Marta Bertamino, Clara Malattia, Mariasavina Severino, Laura Banov, Paola Lanteri, Marta Rusmini, Angelo Claudio Molinari, Andrea Rossi |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Adolescent ABCC6 Pediatrics 03 medical and health sciences Magnetic resonance imaging 0302 clinical medicine Pathognomonic Genetics medicine Humans Pediatric stroke Pseudoxanthoma Elasticum Child Preschool Stroke biology business.industry Genetic disorder High-Throughput Nucleotide Sequencing General Medicine Perinatology and Child Health medicine.disease Pseudoxanthoma elasticum Dermatology Next-generation sequencing Child Preschool Female Multidrug Resistance-Associated Proteins Mutation Pediatrics Perinatology and Child Health Neurology (clinical) Angioid streaks 030104 developmental biology biology.protein Age of onset business 030217 neurology & neurosurgery |
| Zdroj: | European Journal of Paediatric Neurology. 22:725-728 |
| ISSN: | 1090-3798 |
| DOI: | 10.1016/j.ejpn.2018.04.002 |
| Popis: | Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke. In the first patient, diagnosis was delayed until typical dermatologic alterations appeared; in the second patient, next-generation sequencing (NGS) study led to early diagnosis and specific follow-up, underlying the crucial role in idiopathic pediatric stroke of early genetic testing using NGS-based panels. |
| Databáze: | OpenAIRE |
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