A Case of Pseudohypoparathyroidism Mimicking for Absence Seizure
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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 characteristics called Albright’s hereditary osteodystrophy (AHO). AHO is associated with characteristic 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 hypocalcemia, hyperphosphatemia, elevated PTH levels, normal intelligence, and a lack of features that would indicate AHO. Based on Molecular analysis using direct sequencing 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 importance of confirming electrolyte imbalance when examining patients who have had a seizure episode.
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 characteristics called Albright’s hereditary osteodystrophy (AHO). AHO is associated with characteristic 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 hypocalcemia, hyperphosphatemia, elevated PTH levels, normal intelligence, and a lack of features that would indicate AHO. Based on Molecular analysis using direct sequencing 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 importance of confirming electrolyte imbalance when examining patients who have had a seizure episode.
참고문헌 (16)
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