Details

Autor(en) / Beteiligte

• Villarreal-Núñez, F
• Adames-Quintero, A E
• Noriega, L

Titel

Late onset epilepsy as the first symptom of pseudohypoparathyroidism

Ist Teil von

• Revista de neurologiá, 2005-08, Vol.41 (3), p.155-158

Ort / Verlag

Spain

Erscheinungsjahr

2005

Quelle

EZB-FREE-00999 freely available EZB journals

Beschreibungen/Notizen

• The late onset epilepsy is defined like that start in the adult life after the 25 years old. The diagnostic assessment of the late onset epilepsy forces to discard, in the absence of the principal causes like stroke, tumors and trauma to the metabolic cause like plausible. The persistent hypocalcemia, apart of its acute repercussions, produces severe neurologic consequences. Feminine patient of 61 years old, that assists with a tonic clonic generalized seizure and tetany facts in the physical exam (Chvostek and Trousseau), round facies, obesity and metacarpals abnormalities. The hypocalcemia, hyperphosphatemia and resistance to parathyroid hormone (with normal levels of cAM in urine after stimulation with PTH) triad outline the pseudohypoparathyroidism. Consider by the clinical history, biochemical results and clinical findings consistent with Albright hereditary osteodystrophy a pseudohypoparathyroidism type Ia in this patient; is the more common form of this disorders and have a dominant pattern of inheritance, is produced by a detectable mutation in the stimulatory Gs alpha, one protein of the adenylil cyclase complex (GNAS1) that is traduced in a inefficacy of the PTH renal receptor. The main goals of treatment are reduce and maintain the serum calcium and PTH levels, respectively.