ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum

• Published in: European journal of paediatric neurology Vol. 22; no. 4; pp. 725 - 728
• Main Authors: Bertamino, Marta, Severino, Mariasavina, Grossi, Alice, Rusmini, Marta, Tortora, Domenico, Gandolfo, Carlo, Pederzoli, Silvia, Malattia, Clara, Picco, Paolo, Striano, Pasquale, Ceccherini, Isabella, Di Rocco, Maja, Aiello, Alessia, Banov, Laura, Capra, Valeria, Giacomini, Thea, Lanteri, Paola, Minoia, Francesca, Molinari, Angelo Claudio, Moretti, Paolo, Moscatelli, Andrea, Vari, Maria Stella, Palmieri, Antonella, Pavanello, Marco, Prato, Giulia, Ramenghi, Luca Antonio, Rimini, Alessandro, Rossi, Andrea, Uccella, Sara
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.07.2018
• Subjects: Adolescent; Child, Preschool; Female; Genetics; High-Throughput Nucleotide Sequencing; Humans; Magnetic resonance imaging; Male; Multidrug Resistance-Associated Proteins - genetics; Mutation; Next-generation sequencing; Pediatric stroke; Pseudoxanthoma Elasticum - complications; Pseudoxanthoma Elasticum - diagnosis; Pseudoxanthoma Elasticum - genetics; Stroke - genetics; Genetics; Next-generation sequencing; Magnetic resonance imaging; Pediatric stroke
• ISSN: 1090-3798; 1532-2130; 1532-2130
• DOI: 10.1016/j.ejpn.2018.04.002

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. •Pseudoxanthoma Elasticum (PXE) may present in childhood with isolated multisystem vasculopathy and early-onset stroke.•When PXE present without typical when typical skin and ocular manifestations are missing, genetic diagnosis is often delayed.•NGS-panels are cost-effective approach to diagnose rare genetic diseases once excluded more common causes of pediatric stroke.•Involvement of petrous/cavernous segments of ICA with compensating arterial network might represent a disease hallmark in PXE.