결신 발작 양상으로 내원한 가성부갑상선기능저하증 환아 1례 = A Case of Pseudohypoparathyroidism Mimicking for Absence Seizure

국문 초록 (Abstract)

가성부갑상선기능저하증은 저칼슘혈증과 고인산혈증, 혈중 부갑상선호르몬 증가를 가져오는 드문 질환으로, 저칼슘혈증으로 인해서 경련이나 강직이 발생할 수 있다. 가성부갑상선기능저하증은 몇 개의 아형으로 나뉘는데, 그 중에서 Albright 선천성 골이형성증(AHO)를 동반하는 Ia, Ic 형이 대부분인 것으로 알려져있다. 저자들은 결신 발작 양상을 주소로 내원한 11세 남아에서 AHO를 동반하지 않은 가성부갑상선기능저하증을 경험하였기에 보고하는 바이다. 정상 수준의 지능과 AHO에 해당하는 증상을 가지고 있지 않았고 GNAS 유전자 돌연변이도 발견되지 않았지만 저칼슘혈증과 고인산혈증, 혈중 부갑상선호르몬 증가를 보였으며, 24시간 소변에서 칼슘과 인산염, cAMP가 감소되어 있었다. 기타 혈액검사와 뇌파에서는 이상이 없었으며, AHO를 동반하지 않은 가성부갑상선기능저하증으로 진단하고, 경구 calcium carbonate와 calcitriol 복용 후 호전되었다. 소아에서 발생하는 간질중첩증이나 재발성 경련은 뇌 손상을 일으킬 수 있으므로, 경련성 질환 환자 내원 시 오진을 막기 위해서 전해질 불균형을 확인해 보아야 한다.

다국어 초록 (Multilingual Abstract)

Pseudohypoparathyroidism (PHP) is a rare disease characterized by hypocalcemia, hyperphosphatemia, and elevated serum levels of the parathyroid hormone (PTH). Symptoms of hypocalcemia include seizures and tetany. PHP can be divided into the following subtypes: Ia, Ib, Ic, and II. Type Ia and Ic have morphological characteri stics called Albright's hereditary osteodystrophy (AHO). AHO is associated with characte-ristic developmental abnormalities that include a short stocky stature, a short neck, brachydactyly, a round face, central obesity, mental retardation and subcutaneous ossifications. In Korea, cases of PHP with AHO are reported intermittently, however, cases of PHP without AHO are very rare. We encountered an 11-year-old boy who initially presented with dialeptic seizures who was otherwise healthy with normal development. At first, we thought that he was probably the absence seizure patients. But, His EEG shows a normal pattern. An investigation at that time revealed hypo-calcemia, hyperphosphatemia, elevated PTH levels, normal intelligence, and a lack of features that would indicate AHO. Based on Molecular analysis using direct sequen-cing that targeted the GNAS gene was performed, but a GNAS gene mutation was not found. Based on the normal intelligence level of the patient, the lack of AHO features, and the results of the molecular analysis, he was diagnosed with PHP type Ib or II. Oral therapy with calcium carbonate (0.5 g/day) and calcitriol (0.5 mcg/day) was initiated. One month later, his serum calcium and phosphate levels improved. Seizures did not recur. The major purpose of our case report is to stress the impor-tance of confirming electrolyte imbalance when examining patients who have had a seizure episode.

목차 (Table of Contents)

• Abstract
• Introduction
• Case report
• Discussion
• 요약
• References