Epilepsia de inicio tardío como primera manifestación de pseudohipoparatiroidismo / Late onset epilepsy as the first symptom of pseudohypoparathyroidism

Introducción. La epilepsia de inicio tardío se define como aquella que comienza en la vida adulta después de los 25 años de edad. El abordaje diagnóstico de la epilepsia de inicio tardío obliga a descartar, en ausencia de las causas principales, como el ictus, los tumores y trauma, la causa metabólica como plausible. La hipocalcemia persistente, aparte de sus repercusiones agudas, ocasiona graves secuelas neurológicas. Caso clínico. Paciente femenina de 61 años que acude con historia de convulsión tonicoclónica generalizada de reciente inicio y al examen físico con datos de tetania (signos de Chvostek y Trousseau), cara redonda, obesidad y anormalidades en metacarpianos. La tríada de hipocalcemia, hiperfosfatemia y la resistencia a la acción de la PTH (con niveles normales de AMPc en orina luego de estimulación con PTH) nos enmarcan el pseudohipoparatiroidismo. Conclusiones. Se considera por la historia clínica, las manifestaciones bioquímicas y los hallazgos clínicos consistentes con osteodistrofia hereditaria de Albright un pseudohipoparatiroidismo de tipo Ia en esta paciente; este tipo es el más común de estos trastornos y su herencia es autosómica dominante; se produce por una mutación detectable en la proteína Gs alfa estimuladora del complejo adenilil ciclasa (GNAS1) que se traduce en ineficacia del receptor renal de la PTH. Las metas del tratamiento son reducir y mantener los niveles de calcio y PTH, respectivamente (AU)

Introduction. 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. Case report. 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. Conclusions. 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 (AU)

[Late onset epilepsy as the first symptom of pseudohypoparathyroidism]. / Epilepsia de inicio tardío como primera manifestación de pseudohipoparatiroidismo.

INTRODUCTION: 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. CASE REPORT: 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. CONCLUSIONS: 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.