A girl with lethargy and severe electrolyte imbalance.

BACKGROUND

Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disorder characterised by a triad of mucocutaneous candidiasis, hypoparathyroidism and primary adrenal failure. It is caused by a mutation in the autoimmune regulator gene AIRE, involved in negative selection of self-reacting T-lymphocytes.

CASE PRESENTATION: A young girl had been lethargic for 10 weeks following an upper airway infection. Attempts to perform blood sampling were interrupted due to severe anxiety. The patient was admitted to hospital after transient dizziness, aphasia, and paresthesia of her right arm. Her vital signs, pupil reactions and auscultations were normal, but a thorough examination was impossible due to a lack of compliance. The following morning the girl developed generalised tonic-clonic seizures. An MRI of her brain was normal. Blood tests showed severe electrolyte disturbances, acidosis, hypoglycaemia and low serum cortisol. The patient was treated with intravenous fluids, glucose and hydrocortisone.

INTERPRETATION: Blood tests were compatible with primary adrenal failure and hypoparathyroidism. Further work-up showed that the patient had a mutation in AIRE consistent with autoimmune polyendocrine syndrome type 1.