Drug-resistant Epilepsy Revealing Pseudo-hypoparathyroidism

Abstract

Pseudohypoparathyroidism (PHP) is a very rare disease, due to genetic abnormalities of variable expressivity, resulting in resistance of target tissues to the action of parathyroid hormone (PTH). It is a disease that presents in several varieties depending on the existence or not of dysmorphic syndrome, resistance to other hormones and on the responses of hormonal signaling pathways to exogenous PTH supply. Fahr's syndrome is one of the consequences of pseudohypoparathyroidism, it is defined by the presence of intracerebral calcifications, bilateral and symmetrical, non arteriosclerotic, located in the basal ganglia. We report in this work, the observation of a 12 years old child, suffering from a PHP complicated with a Fahr syndrome, discovered after several years of evolution of persistent neurological disorders and refractory to treatments. This work underlines the interest of the research of the disorders of the phosphocalcic metabolism in the presence of neuropsychiatric demonstrations, in order to detect a PHP or any other etiology of a syndrome of Fahr and to adopt thus, the most appropriate therapeutic measures.