Background: Autoimmune polyendocrine syndrome (APS) type 1 is a rare autosomal recessive disease. The classic features are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Several non-classic presentations of the disease has been described over the last few years. Authors present a case of 14-year old girl with a new serious non-classic presentation.
Case presentation: Patient was diagnosed with a mucocutaneous candidiasis and hypoparathyroidism at the age of 3 years. APS 1 was diagnosed at 9 years of age shortly after diabetes mellitus type 1 had been recognised. Mutational analysis of the AIRE gene showed R257X (c.769C>T) mutation. Typical symptoms of Addison disease weakness, fatigue and hyperpigmentation developed at 13 years of age. At 14 years she was admitted to hospital for prolonged seizures. Hypoglycemia and hypocalciemia were excluded as a cause of the seizures. EEG showed finding non-specific for epilepsy. Examination of the CSF was performed to exclude infection (herpetic viruses, etc.). MRI angiography did not show vaculitis or other organic changes of cerebral vessels. Specific autoantibodies for autoimmune encephalitis turned out to be positive in CSF (antiGAD65 >2000 MU/l) as well as in blood (>2000 MU/l). Immunosupresive treatement (glucocorticoids and i.v. imunoglobulins) with antiepileptics resulted in a clinical course without seizures.
Conclusion: This is the first documented case of APS type 1 in Slovakia. To the best of our knowledge this is the first described case of autoimmune GAD65-positive encephalitis as a component of APS1. Autoimmune GAD65-positive encephalitis should be considered a new component of the clinical spectrum of APS 1.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology