Introduction: The isolated hyperparathyroidism (IHP) is a metabolism disorder characterized by an absent or low parathormon (PTH) and hypocalcemia. It can be acquired, autoimmune, a result of some syndrome and as a part of a family (FIHP). FIHP is an extremely rear disease which is inherited auto somatic dominant or auto somatic recessive as a result of a mutation of one or several different genes. Pathological calcifications in the cerebrum are a secondary form of calcification in patients with IHP.
Material and methods: We present two patients, a brother and a sister, age 44 and 42. The disease started in both cases, with a series of epileptic attacks, the brother at the adolescent period and the sister at age of 30. The diagnose was established based on a characteristic symptoms: Fatigue, muscle weakness, paresthesis, convulsions, speech and attitude disorder as well as cognitive deficit. The brother has cataract and the sister has hirzutism and acne. Hormone and laboratory diagnostic tests. Radio diagnostic on the kidneys, densitometry and psychological tests.
Results: The brother: PTH=4.22 pg/ml (1565), TCa=1.08 (1.212.6), Posf=2.01 (0.81.4 mmol/e), Ca++=1.46 (1.310) mmol/l, Vit. D 14.35, Mg 0.69 (0.61.1 mmol/l). Undergone cataract surgery. The sister: PTH=1.2 pg/ml, TCa=1.92, Posf=1.7. No signs for litiasa and nefrosclerosis. KT scan of the brain: calcification in the cerebellum, basal ganglia, par ventricular and sub cortical M. Fahr. No signs of nefrocalcinosis. Radiology finding shows osteosclerosis of the cranium, spine, long bones. Both of them have neuropsychological disorder with limited intellectual capacity and light mental retardation.
Conclusion: IPH from an unknown etiology points to a family HypoPTH which needs to be confirmed by a genetic test. The tests were not performed due to financial limitations. Timely diagnose of IPH can prevent calcification in basal ganglia.
20 - 23 May 2017
European Society of Endocrinology