Three Cases of Hypoventilation in the First Decade with an Unusual Presentation and Rare Etiology: A Case Report

Abstract

Introduction: Alveolar hypoventilation is defined as insufficient ventilation. The primary feature of this disorder is insufficient sleep-related ventilation. The differential diagnosis of pediatric hypoventilation includes congenital central hypoventilation syndrome (CCHS), ROHHAD syndrome, Chiari malformation, Prader-Willi syndrome (PWS), and neuromuscular disorders (e.g. congenital myopathy, brain trauma, and central nervous system tumors). Case Presentation: In this article, we report two cases of hypoventilation in the first decade of life with abnormal presentations (e.g., arterial and venous thrombosis). We also present a case of hypoventilation with an uncommon etiology and compare the therapeutic strategies for these patients. Conclusions:The aim of this case report was to raise awareness of this unusual presentation of ROHHAD syndrome. Due to the low incidence of this syndrome, further studies are warranted to collect more information about its pathophysiology and symptoms. In addition, we noticed a rare etiology of hypoventilation (brain trauma).

Genetic study of apatient with congenital central hypoventilation syndrome in Iran: a case report

“…Genetic study of this syndrome has not been previously performedin Iran. the only case report was a patient suspitious being affected by this disorder which had negative molecular result for CCHS.To our knowledge it is the rst report of CCHS patient with genetic identi cation in Iran (21). In this paper we introduced a heterozygous PARM CCHS patient with genotype of 20/27.…”

Overview on Pediatric Obesity Hypoventilation Syndrome

“…Insufficient ventilation is referred to as alveolar hypoventilation. Infants and children with hypoventilation syndromes have a rare but significant range of respiratory control problems [5]. The term "obesity hypoventilation syndrome" (OHS) is used when awake hypercapnia (PaCO2 > 45 mm Hg) first manifests in an obese individuals and other probable causes of hypoventilation, have been ruled out.…”