Pseudohypoparathyroidism and Seizure: A Rare Case Report

Yıl 2018, Cilt: 3 Sayı: 2, 52 - 58, 17.08.2018

Ferhat Gökay , Yasin Şimşek Oğuzhan Sitki Dizdar

Öz

Pseudohypoparathyroidism
is characterized by hypocalcemia, hyperphosphatemia, increased serum
parathyroid hormone values and insensitivity to the biological activity of
parathyroid hormone. Pseudohypoparathyroidism is often associated with a
characteristic phenotype known as Albright‘s hereditary osteodystrophy.
Pseudohypoparathyroidism usually presents at an early age. We describe a 50-year-old man who
presented with seizure
due to hypocalcemia. He has typical features of Albright's
hereditary osteodystrophy, which include a round face, short neck and
stature.  Diffuse
calsifications were seen on the bilateral cerebellum, putamen and
dentate nucleus in computerized tomography. The patient is treated successfully by calcium
carbonate and calcitriol supplementation
This case was reported in order to remind pseudohypoparathyroidism in patients
with hypocalcemic seizures.

Anahtar Kelimeler

Pseudohypoparathyroidism, seizure, calcification

Kaynakça

• Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams Textbook of Endocrinology. In: Bringhurst FR, Demay MB, Kronenberg HM. Hormones and disorders of mineral metabolism. Saunders, Philadelphia, 2011;1280-1283.
• Liu J, Erlichman B, Weinstein LS. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 2003;88:4336–4341
• Mantovani G. Pseudohypoparathyroidism: diagnosis and treatment. The Journal of Clinical Endocrinology & Metabolism 2011;96:3020-3030.
• Donghi V, Mora S, Zamproni I, Chiumello G, Weber G. Pseudohypoparathyroidism, an often delayed diagnosis: a case series. Cases J 2009;2:6734.
• Seki T, Yamamoto M, Kimura H, Tsuiki M, Ono M, Miki N, Takano K, Sato K: Vitamin D deficiency in two young adults with biochemical findings resembling pseudohypoparathyroidism type I and type II. Endocr J 2010; 57:735-744.
• Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams Textbook of Endocrinology. In: Bringhurst FR, Demay MB, Kronenberg HM. Hormones and disorders of mineral metabolism. Saunders, Philadelphia, 2011;1280-1283.
• Liu J, Erlichman B, Weinstein LS. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 2003;88:4336–4341
• Mantovani G. Pseudohypoparathyroidism: diagnosis and treatment. The Journal of Clinical Endocrinology & Metabolism 2011;96:3020-3030.
• Donghi V, Mora S, Zamproni I, Chiumello G, Weber G. Pseudohypoparathyroidism, an often delayed diagnosis: a case series. Cases J 2009;2:6734.
• Seki T, Yamamoto M, Kimura H, Tsuiki M, Ono M, Miki N, Takano K, Sato K: Vitamin D deficiency in two young adults with biochemical findings resembling pseudohypoparathyroidism type I and type II. Endocr J 2010; 57:735-744.