Abstract Introduction Congenital central hypoventilation (CCHS) is a rare disorder due to impairment of autonomic nervous system clinically defined by significantly reduced or abolished ventilatory response hypercapnia and hypoxemia in the absence pulmonary, neuromuscular, cardiac disease. There limited knowledge on associated respiratory manifestations sleep-disordered breathing children with ...

Introduction Perry syndrome is a rare neurological disorder, characterized by atypical parkinsonian symptoms, sleep disturbances, central hypoventilation, weight loss, and psychiatric especially apathy or depression. This due to TDP-43 proteinopathy as result of mutation in the DCTN-1 gene. Objectives To present case patient with DCTN1 gene, related syndrome, who debuted several depressive epis...

Abstract Introduction Pediatric sleep-related hypoventilation is a clinical pattern in which ventilatory insufficiency occurs the setting of either severe OSA (obstructive hypoventilation) or obesity (sleep related hypoventilation). We are reporting case describing management overlapping obstructive due to uncontrolled and pediatric syndrome. Report case(s) The patient full term African America...

Children with congenital central hypoventilation syndrome (CCHS), a genetic disorder characterized by diminished drive to breathe during sleep and impaired CO(2) sensitivity, show brain structural and functional changes on magnetic resonance imaging (MRI) scans, with impaired responses in specific hippocampal regions, suggesting localized injury.We assessed total volume and regional variation i...

RATIONALE Congenital central hypoventilation syndrome (CCHS), a unique disorder of respiratory control associated with Hirschsprung disease (HSCR) and tumors of neural crest origin, results from polyalanine repeat expansion mutations in the paired-like homeobox (PHOX)2B gene in more than 90% of cases, and alternative PHOX2B mutations in remaining cases. OBJECTIVES To characterize CCHS-associa...

This study examined the cross-sectional medical and social characteristics of children diagnosed with congenital central hypoventilation syndrome (CCHS). A detailed questionnaire was mailed to all families with a child with CCHS who are affiliated with a family network or support group. The questionnaire response rate was >75% (n=196). Mean age was 10.22 years +/- 6.6 years (SD) (range, 0.4-38 ...

Congenital central hypoventilation syndrome (CCHS) is a rare disorder that typically presents in the newborn period and is characterized by alveolar hypoventilation and symptoms of autonomic nervous system dysregulation. We describe an infant with CCHS who developed hyperinsulinism, which is an uncommon association. She was born by semi-elective Caesarean section at 37 weeks of gestation after ...