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Bilateral visual loss, behavioral changes, and overlooking in a young child with stargardt disease: Neurodiagnostic considerations

PURPOSE: To illustrate the potential diagnostic confusion between Batten disease and Stargardt disease created by associated signs and symptoms. OBSERVATIONS: A six-year-old girl with vision loss and prominent behavioral changes and overlooking was presumptively diagnosed as having the Batten diseas...

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Detalles Bibliográficos
Autores principales: Brodsky, Michael C., Drack, Arlene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8790276/
https://www.ncbi.nlm.nih.gov/pubmed/35112029
http://dx.doi.org/10.1016/j.ajoc.2022.101307
Descripción
Sumario:PURPOSE: To illustrate the potential diagnostic confusion between Batten disease and Stargardt disease created by associated signs and symptoms. OBSERVATIONS: A six-year-old girl with vision loss and prominent behavioral changes and overlooking was presumptively diagnosed as having the Batten disease form of neuronal ceroid lipofuscinosis. However, genetic testing confirmed the diagnosis of Stargardt disease. CONCLUSIONS AND IMPORTANCE: Behavioral changes and overlooking can accompany the devastating central visual loss of Stargardt disease. In the absence of objective neurologic findings, these features need not signify a potentially life-threatening disease.