Pontine autosomal dominant microangiopathy with leukoencephalopathy in a Hispanic man without a family history.
Ashna Shah, Uzma Hussain, Cynthia Ekpruke et al.
✦ AI-curated · Sources linked
Case in brief
A 49-year-old Hispanic man presented with recurrent ischemic events and multiple cranial nerve palsies, beginning at age 35. Brain MRI revealed lacunar infarcts, white matter hyperintensities, and a cervical spinal cord lesion. Despite negative CSF analyses and treatment for presumed multiple sclerosis, his condition worsened. Genetic testing confirmed a COL4A1 variant, diagnosing him with pontine autosomal dominant microangiopathy with leukoencephalopathy.
What made this case unusual
The case highlights PADMAL's presentation without a family history and atypical features, including cervical spinal cord involvement, which can mimic inflammatory disorders.
Diagnostic / clinical pearl
Clinicians should consider hereditary cerebral small vessel disease in patients with unexplained neurological symptoms, even in the absence of a family history.
Why it matters
Timely genetic testing can prevent unnecessary treatments and guide appropriate management strategies for patients with atypical presentations.