Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis.
Neurology
; 100(4): 199-205, 2023 Jan 24.
Article
em En
| MEDLINE
| ID: mdl-36302663
ABSTRACT
Leukodystrophies are a group of rare neurodegenerative disorders, usually presenting in infancy with a variable combination of cognitive, motor, and coordination impairment. Adult-onset cases are even more rare, often representing a diagnostic challenge even for experienced neurologists. Here, we present a case of a 44-year-old man with subacute and rapidly progressive spastic paraplegia, whose brain MRI revealed white matter abnormalities compatible with a diagnosis of leukodystrophy. We discuss how to apply a simplified diagnostic algorithm to distinguish acquired leukoencephalopathies from leukodystrophies and how to delve into the maze of genetic testing for white matter diseases. In our patient, we reached the diagnosis of a treatable disorder, whose early recognition is essential to prevent severe neurologic deterioration.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Desmielinizantes
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Doenças por Armazenamento dos Lisossomos
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Paraparesia Espástica
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Leucoencefalopatias
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article