Albright hereditary osteodystrophy: Delay in the diagnosis of a rare disorder due to restricted medical services

Sahar Noor; Nasrin Hakimzada; Nijatullah Safi; Sultan Mahmood Alikozai; Abdul Jamil Rasooli; Tooryalai Jalalzai; Qais Siddiqui; Ahmad Jalil Sestani; Najla Nasir; Sarah Noor; Ahmed Maseh Haidary; Saifullah Khalid

doi:10.1002/ccr3.6841

Albright hereditary osteodystrophy: Delay in the diagnosis of a rare disorder due to restricted medical services

Clin Case Rep. 2023 Jan 16;11(1):e6841. doi: 10.1002/ccr3.6841. eCollection 2023 Jan.

Affiliations

¹ Department of Paediatric Medicine French Medical Institute for Mothers and Children (FMIC) Kabul Kabul Afghanistan.
² Department of Medicine Rabia Balkhi Hospital Kabul Afghanistan.
³ Department of Oncology Ali Abad Hospital Kabul Afghanistan.
⁴ Department of Pathology French Medical Institute for Mothers and Children (FMIC) Kabul Kabul Afghanistan.
⁵ Department of Radiology Jumhoriat Hospital Kabul Afghanistan.

Abstract

A teenage Afghan girl presented with seizure. Clinical features and laboratory investigations revealed elevated serum parathormone, high phosphate levels with low serum calcium. In third-world countries, diagnosis of rare disorders, such as Albright hereditary osteodystrophy (AHO), can usually be delayed due to scarcity of standard medical and diagnostic services.

Keywords: Albright hereditary osteodystrophy; brachydactyly; hypocalcaemia; pseudohypoparathyrodism.

Publication types

Case Reports