April 2026

NEUROSCIENCES

CASE REPORT: ORTHOSTATIC HYPOTENSION AND PROGRESSIVE ATAXIA IN A 63-YEAR-OLD PATIENT

A 63‑year‑old woman presented to Northwestern Medicine with recurrent syncope due to severe orthostatic hypotension and a six‑month history of slowly progressive gait imbalance. She reported long‑standing low blood pressure dating back to young adulthood and described a family history of similar balance problems affecting multiple relatives, with progression to wheelchair dependence later in life.

Neurologic examination revealed cerebellar ataxia, pyramidal signs and significant proprioceptive and vibration deficits, raising concern for an underlying neurodegenerative process.

Initial Evaluation
Initial workup for syncope and autonomic dysfunction included cardiac and EEG studies, which revealed nothing. Laboratory testing demonstrated no clear metabolic or inflammatory cause. Given the combination of autonomic symptoms and progressive neurologic findings, further evaluation was pursued.

Neuroimaging Findings
MRI of the brain and spinal cord demonstrated diffuse white matter abnormalities, spinal cord atrophy and corticospinal tract involvement. The distribution of findings, combined with the patient’s clinical course and family history, narrowed the differential toward a rare inherited or neurodegenerative etiology.

Diagnostic Reasoning
This case illustrates how careful attention to symptom progression, autonomic features, family history and imaging findings can guide diagnosis in patients with progressive ataxia. A stepwise clinical reasoning approach, rather than relying on a single test, was key to identifying a rare neurologic condition: LMNB1-related autosomal dominant leukodystrophy.

Key Takeaways
  • Progressive ataxia with autonomic dysfunction should prompt consideration of inherited and neurodegenerative causes.
  • Family history and symptom chronology are critical in narrowing the differential diagnosis.
  • White matter and corticospinal tract involvement on imaging can provide important diagnostic clues.
  • A structured clinical reasoning approach remains essential when evaluating rare neurologic presentations.
Edith Graham, MD, Assistant Professor of MS/Neuroimmunology and Hospital Neurology at Northwestern Medicine

Puneet Opal, MD, PhD, the Lewis John Pollock Professor of Neurology, Professor of Movement Disorders and Cell and Developmental Biology at Northwestern Medicine

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