Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy presenting as severe herniated nucleus pulposus: A case report

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is the most common inherited cerebral microangiopathy. Its clinical features include recurrent central nervous system symptoms—including lacunar stroke, migraine, psychiatric disturbance, acute reversible encephalopathy, and cognitive impairment. We report a case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a patient presenting with severe low back pain and a herniated nucleus pulposus. A 45-year-old female patient with a prior history of right-sided sciatic pain, hypoesthesia, and paresthesia in the right S1 sensory dermatome was referred after back surgery because of persistent low back pain and a spastic gait abnormality. Imaging revealed a right protruding disc herniation of L5/S1 with right S1 nerve root compression and right posterior disc bulging at L4/5 with foraminal stenosis and disc degeneration, for which she underwent surgery. After surgery, she experienced mild sciatica, an antalgic limping gait with foot-dragging, and progressive motor weakness. Her family history was significant for a parent and sibling affected by stroke. The diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy was established by polymerase chain reaction sequencing, which showed a mutated exon 11 of NOTCH3 on chromosome 19. Clinicians should assess patients with non-specific extra-central nervous system symptoms or atypical courses for potential underlying diseases.