# The Diagnosis of Albright’s Osteodystrophy in a Case With Respiratory Failure

## TL;DR

A 55-year-old woman with respiratory failure was diagnosed with a rare genetic disorder called Albright’s osteodystrophy based on her symptoms and lab results.

## Contribution

This paper highlights the importance of recognizing Albright’s osteodystrophy through clinical and analytical features to prevent complications.

## Key findings

- The patient exhibited hypocalcemia and hyperphosphatemia, consistent with Albright’s osteodystrophy.
- Clinical features such as short stature and neurocognitive impairment supported the diagnosis.
- The case emphasizes the need for comprehensive evaluation in managing such rare disorders.

## Abstract

Albright’s hereditary osteodystrophy is a rare hereditary disease due to a mutation of the complex guanine nucleotide-binding protein, alpha-stimulating activity polypeptide. This condition is commonly associated with type 1A and 1C pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism due to resistance of parathyroid hormone. Patients present with specific characteristics such as brachydactyly, short stature, round facies, subcutaneous ossifications, developmental delay, and obesity, associated with hypocalcemia and hyperphosphatemia. This case presents a 55-year-old woman with short stature and neurocognitive impairment, who was admitted to the emergency department with acute decompensated heart and respiratory failure. On admission, hypocalcemia and hyperphosphatemia were noted, which in combination with the patient’s clinical history led to an etiological investigation. This case stresses the importance of not only treating the acute disease but also looking at the patient and their clinical and analytical features to diagnose this disease and prevent its complications.