Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis

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.

Automated summary

Leukodystrophies are rare neurodegenerative disorders that usually manifest in infancy and can cause cognitive, motor, and coordination impairments. Adult-onset cases are even rarer and pose a diagnostic challenge. In this case study, a 44-year-old man with rapidly progressive spastic paraplegia was diagnosed with leukodystrophy based on brain MRI findings. The article discusses the use of a simplified diagnostic algorithm to differentiate acquired leukoencephalopathies from leukodystrophies and the importance of genetic testing for white matter diseases. Early recognition of this treatable disorder is crucial in preventing severe neurological deterioration.