Tracheobronchial anomalies in a patient with Schimke immuno‐osseous dysplasia (SIOD)

Abstract

Schimke Immuno-osseous Dysplasia (SIOD) is a rare genetic disorder with multiple systemic manifestations. Pulmonary manifestations have been described but not well characterized. They are believed to be secondary to decreased elasticity, and include emphysema, pulmonary hypertension and bronchiectasis. We describe a 24-year-old female patient with SIOD with tracheobronchial anomalies not reported before, including tracheomalacia and a tracheal bronchus with Epstein-Barr virus (EBV) related leiomyoma causing endobronchial obstruction. Such anomalies, in addition to the difficult upper airway associated with SIOD present specific challenges during management. This case reports documents tracheobronchial abnormalities that have not been described before in SIOD.

A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing

“…The missense variant (c.1933C>T, p.R645C) has been previously reported to be pathogenic, and it was detected in a patient who was clinically diagnosed with mild SIOD and survived into adulthood with medical therapy and renal transplantation. 21 This suggests that the missense variant c.1933C>T (p.R645C) is common in mild SIOD, which was previously reported in other SIOD patients with different ethnic origins. 5 This missense mutation c.2479G>A (p.V827M) occurred at a highly conserved site of the multi-sequence alignment within the ATPase catalytic domain ( Figure 3 ).…”