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Neurologic consequences of autoimmune polyglandular syndrome type 1

From University of Kentucky College of Medicine (J.R.B.), Lexington; Evansville, IN (A.W.); and Veterans Affairs Medical Center and University of Utah (J.G., G.E.W.), Salt Lake City.

Address correspondence and reprint requests to Dr. Joseph R. Berger, Department of Neurology, University of Kentucky College of Medicine, Kentucky Clinic L-445, 740 S. Limestone Street, Lexington, KY 40536-0284 jrbneuro{at}uky.edu

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive disorder that is chiefly characterized by polyendocrinopathy, chronic mucocutaneous candidiasis, and ectodermal dystrophy. The neurologic complications of this disorder have not been well characterized.

Method: The authors report a patient with a previously undescribed autoimmune cerebellar degeneration occurring in association with APS-1 and review the literature regarding the neurologic complications of this disorder.

Results: This 24-year-old woman with APS-1 presented with gait ataxia associated with band-like hyperintense signal abnormalities of both cerebellar hemispheres and a unique antibody to cerebellar Purkinje cells and brainstem neurons. At age 9, she had C. Miller Fisher syndrome, from which she had fully recovered.

Conclusions: Autoimmune neurologic disease may develop with autoimmune polyglandular syndrome type 1. Neurologic disease may also result from the associated endocrinopathies (hypoparathyroidism, hypothyroidism, diabetes mellitus), vitamin deficiency (vitamins B12 and E), and celiac sprue.

Abbreviations: AIRE-1 = autoimmune regulator-1; APS-1 = autoimmune polyglandular syndrome type 1; CFS = C. Miller Fisher syndrome; IVIg = IV immunoglobulin.

Disclosure: The authors report no disclosures.

Received September 24, 2007. Accepted in final form February 26, 2008.