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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Detalles Bibliográficos
Publicado en:Mol Genet Metab Rep
Autores principales: Mastrangelo, Mario, Alfonsi, Chiara, Screpanti, Isabella, Masuelli, Laura, Tavazzi, Barbara, Mei, Davide, Giannotti, Flavia, Guerrini, Renzo, Leuzzi, Vincenzo
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6713842/
https://ncbi.nlm.nih.gov/pubmed/31467849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100502
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