Autosomal dominant idiopathic hypoparathyroidism and nervous system dysfunction: report of three cases and review of the literature

Abstract

The neurological manifestations of idiopathic hypoparathyroidism in a father, his son, and his daughter are reported. In all three epilepsy was the first manifestation of the disease. Father and son also showed mental deterioration and striocerebellar symptoms; their CT scans revealed symmetrical calcification in the basal ganglia and dentate nuclei. The extent of this calcification increased during normocalcemia, which was produced by dihydrotachysterol therapy. This indicates that other factors than merely hypocalcemia influence the intracerebral calcifying process. Somatosensory evoked potentials (SSEP) showed an abnormal nonspecific complex, indicating dysfunction of the cortical gray matter. It is suggested that in the evaluation of idiopathic hypoparathyroidism one also must be beware of the possibility of epilepsy, mental deterioration, striocerebellar symptoms, intracerebral calcification and SSEP disturbances.

The Possible Link between GABAergic Dysfunction and Cognitive Decline in a Patient with Idiopathic Hypoparathyroidism

“…Reduced [ 11 C]-flumazenil, and normal FDG accumulations in the cerebellum with normal cerebellar symptoms were seen in this patient. This suggests that an alteration of cerebellar GABA-A receptors might precede cerebellar dysfunction, because various neurological manifestations, including cerebellar ataxia, have been reported in patients with IHP (2,19). Another possibility is that glucose metabolism in the cerebellum might be augmented in a compensatory manner.…”

Reversible hyperkinesia in a patient with autoimmune polyglandular syndrome type I

“…Structure and function of the neurons remain preserved for a long time despite massive calcification of their surrounding. Apart from hyperkinesia, parkinsonism and dementia may also be found with these lesions [6,19]. Typically, the neurological manifestation is triggered by 927 severe hypocalcemia [6,19].…”

“…Apart from hyperkinesia, parkinsonism and dementia may also be found with these lesions [6,19]. Typically, the neurological manifestation is triggered by 927 severe hypocalcemia [6,19]. Therefore treatment is concentrated on optimizing calcium and phosphate levels in blood.…”

“…Therefore treatment is concentrated on optimizing calcium and phosphate levels in blood. Optimal management of calcium metabolism can reverse neurological symptoms and may stop or slow the progression of calcification [6,15,19].…”

Fahr syndrome seen with aneurysms : a case report

“…This association may be related with many other disorders such as inflammatory disorders (cytomegalovirus infection, neurocysticercosis, toxoplasmosis, neurobrucellosis, tuberculosis), tumors (astrocytomas), hypoxic and vascular disorders (infarct, ischemic encephalopathy), endocrine problems (hypoparathyroidsm, pseudohypoparathyroidism, hyperparathyroidism), and metabolic and degenerative diseases (senility, mitochondrial encephalopaties, leukodystrophic diseases, motor neuron disease, muscular dystrophy, carbonic anhydrase deficit) (6,7,11,12). Our patient had the presented clinical features, but no hypoparathyroidsm or pseudohypoparathyroidism even though she had undergone thyroidectomy.…”