Two cases of NMOSD with MRI findings mimicking CADASIL

Area of Science:

• Neurology
• Neuroimmunology
• Radiology

Background:

• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic condition affecting small blood vessels in the brain.
• Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease targeting the central nervous system.

Purpose of the Study:

• To highlight the importance of considering NMOSD in the differential diagnosis of CADASIL.
• To increase awareness of overlapping imaging findings between NMOSD and CADASIL.

Main Methods:

• Case report of two patients with NMOSD presenting with MRI findings similar to CADASIL.
• Serological testing for anti-aquaporin-4 antibodies.
• Clinical and radiographic follow-up of patients undergoing treatment.

Main Results:

• Both patients exhibited symmetrical T2 hyperintensities in the temporal poles and cerebral hemispheres on MRI, consistent with CADASIL imaging patterns.
• Anti-aquaporin-4 antibodies confirmed NMOSD diagnosis in both cases.
• Patients showed varied responses to treatment, with some experiencing radiographic progression despite clinical stability.

Conclusions:

• MRI findings in NMOSD can mimic CADASIL, particularly symmetrical hyperintensities in specific brain regions.
• NMOSD should be considered in the differential diagnosis of CADASIL.
• Testing for anti-aquaporin-4 antibodies is recommended for patients with suspected CADASIL and relevant MRI findings.