Cargando…
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...
Autores principales: | , |
---|---|
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 |
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. |
---|