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Neuro-Ophthalmologic Manifestations of Neurodegenerative Disease in Childhood

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Pediatric Neuro-Ophthalmology

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Abstract

Neurodegenerative disorders in children pose a unique diagnostic challenge. Unlike many genetic syndromes, the clinical manifestations of childhood neurodegenerative diseases are often nonspecific and show considerable overlap. Pathognomonic clinical signs are rare. Many of these conditions are uncommon, and extensive clinical experience is generally lacking, even in tertiary referral centers. To further complicate matters, these children often present in the early stages of their illness, when evidence of progression is questionable and motor or cognitive impairment is relatively mild. It is only with extended observation that both clinical and neuroimaging abnormalities evolve to suggest a limited set of diagnostic possibilities. These children usually require repeated observation by a multidisciplinary team of neurologists, neuroimaging specialists, neuro-ophthalmologists, and geneticists before a specific diagnosis is established.

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Brodsky, M.C. (2010). Neuro-Ophthalmologic Manifestations of Neurodegenerative Disease in Childhood. In: Pediatric Neuro-Ophthalmology. Springer, New York, NY. https://doi.org/10.1007/978-0-387-69069-8_10

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