A rare case of hereditary spastic paraplegia with homozygous mutation in the ZFYVE26 gene.
Betül Özenc, Dogan Dinc Oge, Pelin Yenilmez Yesildas
✦ AI-curated · Sources linked
Case in brief
A 19-year-old female with consanguineous parents presented with gait disturbances, lower limb spasticity, and dysarthria. Neurological examination revealed motor and mental retardation, bilateral lower limb spasticity, and increased deep tendon reflexes. Brain MRI showed thinning of the corpus callosum and white matter hyperintensities. Electromyography indicated marked sensorimotor demyelinating polyneuropathy. Genetic testing identified a homozygous mutation in the ZFYVE26 gene.
What made this case unusual
The case highlights the presence of the 'lynx ear sign' on MRI, a notable finding associated with SPG15.
Diagnostic / clinical pearl
Clinicians should consider genetic testing for ZFYVE26 mutations in patients with hereditary spastic paraplegia, especially those with early cognitive decline and characteristic MRI findings.
Why it matters
This case underscores the importance of recognizing atypical MRI features and genetic mutations in the diagnosis of hereditary spastic paraplegia.