2014 ACR/ARHP Annual Meeting: Diagnosing PACNS and Its Mimics

Three nonatherosclerotic central nervous system vasculopathies can mimic PACNS, according to the third speaker at the session, Cenk Ayata, MD, also a neurologist at Massachusetts General Hospital and Harvard Medical School. The three commonly present with seizures and migraine with aura and susceptibility to spreading depression. The vascular dysfunction begins before histologic changes and leads to abnormal cerebral blood flow and chronic progressive neurodegeneration.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one mimic. CADASIL may start with migraines with aura and can include recurrent strokes and progressive T2 white matter abnormalities on MRI, lacunar infarcts and microbleeds.⁴

Other mimics are retinal vasculopathy with cerebral leukodystrophy (RCVL) and HHRATL or hereditary infantile hemiparesis, retinal artery tortuosity and leukoencephalopathy. RCVL is also rare and begins in adulthood with progressive vision loss, stroke-like episodes, dementia, seizures and migraines with and without aura. MRI features of RCVL are similar to CADASIL, and white matter intensities can coalesce to form pseudotumors and small cerebral infarcts. The disease progresses relentlessly, leading to dementia and death.

Onset of HHRATL usually occurs before age 30, and it involves both the retinal and cerebral vessels. White matter intensities are present at about age 30, intracerebral hemorrhage at about the same age and ischemic stroke at about age 35. The condition shares features with PACNS, including progressive focal and diffuse neurologic defects, seizures, headaches and progressive cognitive impairment.

Kathy L. Holliman, MEd, is a medical writer based in Beverly, Mass.

References

1. Calabrese LH, Mallek JA. Primary angiitis of the central nervous system. Report of 8 new cases, review of the literature, and proposal for diagnostic criteria. Medicine.1988;67:20–39.
2. Hajj-Ali RA, Singhal AB, Benseler S, et al. Primary angiitis of the CNS. Lancet Neurol. 2011;10(6);561–572.
3. Calabrese LH, Dodick DW, Schwedt TJ, Singhal AB. Narrative review: Reversible cerebral vasoconstriction syndromes. Ann Intern Med. 2007;146(1):34–44.
4. Ayata C. CADASIL: Experimental insights from animal models. Stroke. 2010;41(10 suppl):S129–S134.