Abstract PE-1
REPETITIVE SEIZURE AS THE INITIAL PRESENTATION IN A PATIENT WITH PSEUDOHYPOPARATHYROIDISM: A CASE REPORT 1
NIEN-CHU YU, 1,2JIUN-LU LIN, 1,2CHUN-CHUAN LEE
1
Division of Endocrinology and Metabolism, Department of Internal Medicine, Mackay Memorial Hospital, Taipei, Taiwan; 2Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
Background: Pseudohypoparathyroidism (PHP) is characteristic by the resistance to parathyroid hormone (PTH) and the resultant hypocalcemia.Albright’s hereditary osteodystrophy (AHO) is anapparent physical feature in patients with PHP-Ia. PHP-Ibpatientspresent predominant renal PTH resistance but lack any features of AHO. Most of PHP patients have defects in GNAS(20q13.3), an imprinted gene locus with multiple transcriptional units.We report one case with repetitive seizures and multiple brain calcification as the presentation of PHP.The patient has typical AHO feature but negative GNAS1 gene test. Case Report: A 51 year-oldobese, short staturewoman got her body height fixed around 140cm since junior high school and jointspain easily when squatting since teenage. She received full denture due to severe calcification 20 years ago. She also has glaucoma. Her menstrual cycle duration was 4-5 days, interval 28 days, moderate amounts with some dysmenorrhea. She was pregnant three times but lost twice; intrauterine fetal death (IUFD) was diagnosed at her first and third fetus, but the second one grows well until now without any abnormality. She had hospitalization once for infection. Her first seizure was attacked and treated at Hualien Tzu-Chi Hospital since 20 years ago.Brain CT and MRI showed bilateral globus pallidus, bilateral head of caudate and bilateral cerebellar dentate nucleus calcification. Bilateral hands X-rays found shortening of bilateral 1st, 4th& 5th and left 3rd metacarpal bones and multiple phalangeal bones with bony exostosis. Lab data showed hypocalcemia, hyperphosphatemia, and elevated iPTH level.Subclinical hypothyroidism also noted. GNAS1 gene test was performed due to pseudohypoparathyroidism (PHP) was highly suspected. Now patient under regular Ca supply and OPD follow up Ca &P level. Discussion: PHP is an idiopathic and inherited form of PTH resistance. Its characteristics are short stature, rounded face, foreshortened fourth and other metacarpals, obesity, and subcutaneous calcification. There are four types of PHP: type 1a, 1b, 1c, and 2. Diagnosis of PHP is defined by the coexistence of hypocalcemia, hyperphosphatemia with elevated PTH levels in the presence of normal Vitamin D value and normal renal function and the absence of hypercalciuria. GNAS1 locus mutation or imprinting abnormalities responsible for PHP different types. The goal of therapy should maintain serum total and ionized Ca level, oral Ca and Vitamin D supply, and prevent morbidity. Conclusion: We present a case of repetitive seizure as the initial presentation in a patient with pseudohypoparathyroidism. The patient has classic metacarpals and phalanges abnormalities and symptomatic hypocalemia. The diagnosis of PHP requires physician’skeen insight. 125
