Albright's hereditary osteodystrophy and dementia: A case report

Amaç & Hipotez:Albright’›n herditer osteodistrofisi (AHO) obezite, boy k›sal›¤›, yuvarlak yüz, parmaklarda k›sal›k, cilt alt› ossifikasyonlar, bazen mental retardasyon, hipokalsemi ve artm›fl serum paratiroid hormon (PTH) düzeyleri ile giden bir sendromdur.

📊

Temel Bulgular & Veri:Bu sendromda PTH’a son organ cevaps›zl›¤› ile karakterize olan yalanc› hipoparatiroidizm (PHP) bulunabilir.

💡

Sonuç & Katkı:Bu yaz›da demans semptomlar› ile ortaya ç›kan bir AHO olgusu sunulmufltur.

🔬Tür:Araştırma Makalesi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Alan Parametreleri

Özet

Albright’›n herditer osteodistrofisi (AHO) obezite, boy k›sal›¤›, yuvarlak yüz, parmaklarda k›sal›k, cilt alt› ossifikasyonlar, bazen mental retardasyon, hipokalsemi ve artm›fl serum paratiroid hormon (PTH) düzeyleri ile giden bir sendromdur. Bu sendromda PTH’a son organ cevaps›zl›¤› ile karakterize olan yalanc› hipoparatiroidizm (PHP) bulunabilir. Bu yaz›da demans semptomlar› ile ortaya ç›kan bir AHO olgusu sunulmufltur.

Abstract

Albright's Hereditary Osteodystrophy (AHO) is characterised by obesity, short stature, round face, brachydactyly, subcutaneous ossifications, mental retardation in some cases, hypocalcemia, and elevated serum parathyroid hormone (PTH) level. In this syndrome, there may be pseudohypoparathyroidism (PHP) characterised by end-organ unresponsiveness to PTH. In this report, we present an AHO case with unusual manifestation by presenting dementia which has not been previously reported.

🔖

Bu Makaleye Atıf Yap

EŞEL, E., BAYRAM, F., DÜNDAR, M., TURAN, M. T., ÇATAKOĞLU, Ö., CANDEMİR, Z., KILIÇ, C. (2022). Albright's hereditary osteodystrophy and dementia: A case report. Klinik Psikofarmakoloji Bülteni, Cilt: 11 - Sayı: 3, 183–186. https://ajindex.com/articles/574535

📄 Tam Metin PDF Okuyucu

Yeni Sekmede Aç ↗

↗Yeni Sekme

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (1)

Jackson CE, Jackson JA. Parathyroid Disorders. In: Rimoin DL, Connor JM, Pyeritz RE, editors. Emery and Rimoin’s Principles and Practice of Medical Genetics. 3rd ed. Edinburgh: Churchill Livingstone, 1997: 1379-1399. 2.McKu sick VA. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. 11th ed. Baltimore and London: The Johns Hopkins University Press, 1994: 2299-2301. 3.American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington DC: American Psychiatric Press, 1994. 4.Stuer enburg HJ, Hansen HC, Thie A, Kunze K. Reversible dementia in idiopathic hypoparathyroidism associated with normocalcemia. Neurology 1996; 47:474-476. 5.Nicolai A, Lazzarino LG. Dementia syndrome in patients with postsurgical hypoparathyroidism and extensive brain calcifications. Eur Neurol 1994; 34:230-235. 6.Rigg s JE. Neurologic manifestations of fluid and electrolyte disturbances. Neurol Clin 1989; 7:509-523. 7.I sozaki O, Sato K, Tsushima T, Shizume K, Takamatsu J. A patient of short stature with idiopathic hypoparathyroidism round face and metacarpal signs. Endocrinol Jpn 1984; 31:363-367. 8.Rogner M, Schneider H, Rupprecht E, Muller J. Pseudohypoparathyroidism-a case report. Z Gesamte Inn Med 1989; 44:433-436. 9.Rao VV, Schmittger S, Hansmann I. G protein G3- alpha(GNASI) the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2. Genomics 1991; 10:257-261. 10.P atten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM, Levine MA. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright’s hereditary osteodystrophy. N Eng J Med 1990; 322:1412-1419.