Skip to main content

ROHHAD syndrome: The girl who forgets to breathe

Indian Pediatrics volume 53, pages 343–344 (2016)Cite this article

Abstract

Background

ROHHAD syndrome is an exceedingly rare cause of central hypoventilation.

Case characteristics

A 7-year-old girl with ROHHAD syndrome who had central hypoventilation, rapid weight gain, multiple cardiac arrests and hyperprolactinemia.

Outcome

She required prolonged and repeated ventilation, and finally died due to complications of ventilation.

Message

ROHHAD Syndrome should be suspected in any child who presents with obesity, behavioral changes or autonomic instability following a neural crest tumor.

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

43,34 €

Price includes VAT (Finland)
Tax calculation will be finalised during checkout.

References

  1. Fishman LS, Samson JH, Sperling DR. Primary alveolar hypoventilation syndrome (Ondine’s curse). Am J Dis Child. 1965;110:155–61.

    CAS  Article  PubMed  Google Scholar 

  2. Bougnères P, Pantalone L, Linglart A, Rothenbühler A, Le Stunff C. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood. J Clin Endocrinol Metab. 2008;93:3971–80.

    Article  PubMed  Google Scholar 

  3. Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007;120:e179-88.

    Article  Google Scholar 

  4. Bougneres P, Pantalone L, Linglart A, Rothenbühler A, Le Stunff C. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation and neural tumor (ROHHADNET) syndrome in early childhood. J Clin Endocrinol Metab. 2008;93:3971–80.

    CAS  Article  PubMed  Google Scholar 

  5. North KN, Ouvrier RA, McLean CA, Hopkins IJ. Idiopathic hypothalamic dysfunction with dilated unresponsive pupils: Report of two cases. J Child Neurol. 1994;9:320–5.

    CAS  Article  PubMed  Google Scholar 

  6. Sethi K, Lee YH, Daugherty LE, Hinkle A, Johnson MD, Katzman PJ. ROHHADNET syndrome presenting as major behavioral changes in a 5-year-old obese girl. Pediatrics. 2014;134:e586–9.

    Article  PubMed  Google Scholar 

  7. Lee P, Su Y, Yu C, Yang P. PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family. Presentation from newborn to adulthood. Chest. 2009;135:537–8.

    PubMed  Google Scholar 

  8. Paz-Priel I, Cooke DW, Chen AR. Cyclophosphamide for rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome. J Pediatr. 2011;158:337–9.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Affiliations

  1. Bombay Hospital Institute of Medical Sciences, Mumbai, India

    Mukesh Sanklecha & Suba Sundaresan

  2. PD Hinduja National Hospital, Mumbai, India

    Vrajesh Udani

  3. 9C, First Floor, Sind Chambers, Strand, SBS Road, Colaba, Mumbai, 400 005, India

    Mukesh Sanklecha

Authors
  1. Mukesh Sanklecha
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Suba Sundaresan
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Vrajesh Udani
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Mukesh Sanklecha.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Sanklecha, M., Sundaresan, S. & Udani, V. ROHHAD syndrome: The girl who forgets to breathe. Indian Pediatr 53, 343–344 (2016). https://doi.org/10.1007/s13312-016-0849-5

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13312-016-0849-5

Keywords

  • Autonomic instability
  • Hypercapnea
  • Hypoventilation
  • Obesity