A Triple Threat: Down Syndrome, Congenital Central Hypoventilation Syndrome, and Hirschsprung Disease

PEDIATRICS ◽  
2012 ◽  
Vol 130 (5) ◽  
pp. e1382-e1384 ◽  
Author(s):  
K. L. Jones ◽  
E. K. Pivnick ◽  
S. Hines-Dowell ◽  
D. E. Weese-Mayer ◽  
E. M. Berry-Kravis ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Hirschsprung Disease ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Triple Threat

Compound effect ofPHOX2BandRETgene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease

2008 ◽  
Vol 146A (11) ◽  
pp. 1486-1489 ◽  
Author(s):  
Guido Fitze ◽  
Inke R. König ◽  
Ekkehart Paditz ◽  
Alexandre Serra ◽  
Marianne Schläfke ◽  
...  
Keyword(s):  
Hirschsprung Disease ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Compound Effect

Congenital Tonic Pupils Associated With Congenital Central Hypoventilation Syndrome and Hirschsprung Disease

2016 ◽  
Vol 36 (4) ◽  
pp. 414-416 ◽  
Author(s):  
Viraj J. Mehta ◽  
Joseph J. Ling ◽  
Elizabeth G. Martinez ◽  
Anvesh C. Reddy ◽  
Sean P. Donahue
Keyword(s):  
Hirschsprung Disease ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Vagal nerve stimulator placement for medically refractory seizures in a child treated with phrenic nerve pacing for congenital central hypoventilation syndrome

2011 ◽  
Vol 7 (4) ◽  
pp. 413-415 ◽  
Author(s):  
Brian D. Duty ◽  
Susan E. Wozniak ◽  
Nathan R. Selden
Keyword(s):  
Phrenic Nerve ◽  
Hirschsprung Disease ◽  
Failure To Thrive ◽  
Seizure Disorder ◽  
Vagal Nerve ◽  
Congenital Central Hypoventilation Syndrome ◽  
Nerve Stimulator ◽  
Vagal Nerve Stimulator ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Congenital central hypoventilation syndrome (CCHS) is a rare, idiopathic disorder characterized by a failure of automatic respiration. Abnormalities such as seizure disorder, failure to thrive, and Hirschsprung disease have been associated with CCHS. In this report, the authors discuss the use of vagal nerve stimulation (VNS) to treat a medically refractory seizure disorder in a child who had previously undergone placement of bilateral phrenic nerve stimulators for treatment of CCHS. Concomitant use of phrenic and vagal nerve stimulators has not previously been reported in the literature. No adverse reactions were noted with both devices working. Diaphragmatic pacing (DP) was clinically unaffected by VNS. The patient experienced a marked reduction in seizure frequency and severity following vagal nerve stimulator placement. Based on this case, the authors conclude that VNS is a potentially safe and efficacious treatment option for seizure disorder associated with CCHS in patients undergoing DP.

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