Article citationsMore>>

Elli, F.M., Sanctis, L., Peverelli, E., Bordogna, P., Pivetta, B., Miolo, G., et al. (2014) Autosomal Dominant Pseudohypoparathyroidism Type Ib: A Novel Inherited Deletion Ablating STX16 Causes Loss of Imprinting at the A/B DMR. The Journal of Clinical Endocrinology & Metabolism, 99, E724-E728.
https://doi.org/10.1210/jc.2013-3704

has been cited by the following article:

• TITLE: Fahr’s Syndrome Discovered at Adulthood Revealing the Pseudohypoparathyroidism

  AUTHORS: Kawtar Nassar, Saadia Janani

  KEYWORDS: Fahr’s Syndrome, Pseudohypoparathyroidism, Convulsion, Intracerebral Calcification, Hypocalcemia

  JOURNAL NAME: Open Journal of Rheumatology and Autoimmune Diseases, Vol.9 No.4, November 28, 2019

  ABSTRACT: Fahr’s syndrome is a rare clinicopathological entity, defined by the presence of intracerebral calcifications not arteriosclerotic, bilateral and symmetric at the level of the basal ganglia, whose main etiology is dysparathyroidism, rarely pseudohypoparathyroidism. Hypocalcemia and hyperphosphatemia despite normal or high levels of parathyroid hormone are the result of resistance to the action of parathyroid hormone. The clinical profile is not specific but dominated by neuropsychiatric symptoms. We report the case of a 30-year-old patient with type pseudohypoparathyroidism revealed one year ago by Fahr’s syndrom. The diagnosis made by convulsion history since the age of 5 years resistant to treatment, the disturbance of metabolism disorders, and the presence of intracerebral calcifications. The vitamin D and calcium supplementation have contributed to the stabilization of the disease.