Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features

Sira Korpaisarn,Chutintorn Sriphrapradang,Objoon Trachoo

doi:10.1155/2013/802793

Sira Korpaisarn, Chutintorn Sriphrapradang + Show 1 more

Open Access

https://doi.org/10.1155/2013/802793

Copy DOI

Abstract

We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.

Highlights

Hypoparathyroidism leads to hypocalcemia, which can manifest with paresthesias of perioral area and extremities, tetany, muscle cramps, and carpopedal spasm
In the setting of acute severe hypocalcemia, it can present as life-threatening condition such as seizure, laryngospasm, and cardiac arrhythmia
The most common cause of hypoparathyroidism in adult is postsurgical hypoparathyroidism. Rare genetic disorders, such as genetic mutations that involve in defective synthesis of parathyroid hormone (PTH), or abnormal parathyroid gland development or dysgenesis of thyroid glands associated with other developmental abnormalities, such as thymic hypoplasia, defects in the cardiac outflow tract, typically manifest in the neonatal or childhood period [1, 2], it is rarely reported as the etiologies of adult onset hypoparathyroidism [3,4,5]

Summary

Introduction

Hypoparathyroidism leads to hypocalcemia, which can manifest with paresthesias of perioral area and extremities, tetany, muscle cramps, and carpopedal spasm. Rare genetic disorders, such as genetic mutations that involve in defective synthesis of parathyroid hormone (PTH), or abnormal parathyroid gland development or dysgenesis of thyroid glands associated with other developmental abnormalities, such as thymic hypoplasia, defects in the cardiac outflow tract, typically manifest in the neonatal or childhood period [1, 2], it is rarely reported as the etiologies of adult onset hypoparathyroidism [3,4,5] These syndromes can be under-recognized due to either the unfamiliarity of physicians with the syndrome or the variable expressivity and subtle phenotype. The diagnosis could be missed because of subtle dysmorphic facial features

Case Report

Findings

Discusssion