Endocrine Abstracts

Autoimmune polyglandular syndrome type I is a very rare disorder. We present the case of a six-year-old girl admitted to our hospital in September 1999 for recurring seizures and a history of muscle cramps and carpal spasms. Neurological examination showed congenital partial palsy of cranial nerves III and VI, EEG revealed abnormal electric activity and cerebral CT was normal. Laboratory findings (hypocalcemia-5 mg/dl, hyperphosphatemia-10.3 mg/dl and low serum PTH level-4.72 pg/ml; serum cortisol, electrolytes, TSH – in normal range) sustained the diagnosis of motor focal epilepsy and idiopathic hypoparathyroidism and the child was treated with calcitriol, calcium salts and antiseizure drug (carbamazepine). She was followed up for two years and lost after that.

In May 2005 the patient was hospitalized again for symptoms of adrenal crisis preceded by skin hyperpigmentation. New laboratory findings: blood sugar-40 mg/dl, blood ureea-63.8 mg/dl, hyponatremia-120 mEq/l, hypochloremia-80 mEq/l and hyperkaliemia-10.6 mEq/l; random cortisol level-3.13 μg/dl; hypocalcemia-5.9 mg/dl. This time cerebral CT showed calcification of basal ganglia, frontoparietal cerebral cortex and cerebellum. After emergency treatment of adrenal crisis, the maintenance therapy of chronic primary adrenal insufficiency has been initiated: replacement of glucocorticoids and mineralocorticoids with prednisone, respective fludrocortisone. The therapy with calcitriol and calcium salts has been resumed. After two months the patient presented candidiasis of the mouth with a good answer to therapy with fluconazol.

The patient’s mother was diagnosed with Hashimoto’s thyroiditis at the age of 37 years, in July 2005.

This is a case of an unusual sequence of development of the three major component of PGA1 (hypoparathyroidism, adrenal insufficiency and chronic mucocutaneous candidiasis). Till now, we didn’t find other autoimmune or ectodermal disorders, but there is a neurological pathology unrelated to hypoparathyroidism with special problems of management.