Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis

We describe a 7-year-old boy presenting with a developmental encephalopathy, severe epilepsy, retinopathy with salt and pepper fundus, and ultrastructural skin alterations resembling a neuronal ceroid lipofuscinosis. Whole exome-sequencing detected biallelic variants in the ADSL gene (c.65C > T [...

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Bibliographic Details
Main Authors: Mario Mastrangelo, Chiara Alfonsi, Isabella Screpanti, Laura Masuelli, Barbara Tavazzi, Davide Mei, Flavia Giannotti, Renzo Guerrini, Vincenzo Leuzzi
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426919300813

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http://www.sciencedirect.com/science/article/pii/S2214426919300813

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