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Journal of Medical Case Reports

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Open Access 01-12-2016 | Case report

Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report

Authors: Lama Aljabban, Lina Kassab, Nour Alhuda Bakoura, Mohammad Fayez Alsalka, Ismaeil Maksoud

Published in: Journal of Medical Case Reports | Issue 1/2016

Abstract

Background

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and high risk of mortality. Our patient presented an unusual course of the disease accompanied by a homogenous mild enlargement of her pituitary gland with an intact pituitary–endocrine axis which, to the best of our knowledge, represents a new finding in rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome.

Case presentation

We present a documented case of a 4 years and 8-month-old Syrian Arabic girl with a distinctive course of signs and symptoms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome accompanied by mature ganglioneuroma in her chest, a homogenous mild enlargement of her pituitary gland, generalized cortical brain atrophy, and seizures. Three months after her first marked symptoms were noted she had a sudden progression of severe respiratory distress that ended with her death.

Conclusions

The findings of this case could increase our understanding of the pathogenetic mechanisms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation, and place more emphases on pediatricians to consider rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome whenever early rapid onset of obesity, associated with any malfunction, is observed in children. This knowledge could be lifesaving for children with rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome.

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

Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007;120(1), e179.CrossRefPubMed

Goykhman A, Fitch J, Tobias JD. Perioperative Care of a Child with ROHHADNET Syndrome. J Med Cases. 2013;4(11):710–4.

Bougnéres 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 Endocrino Meta. 2008;93:3971–80.CrossRef

Patwari PP, Wolfe LF. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: review and update. Cur Opin Pedi. 2014;26(4):487–92.CrossRef

Abaci A, Catli G, Bayram E, Koroglu T, Olgun H, Mutafoglu K, et al. A case of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor: ROHHADNET syndrome. Endocr Pract. 2012;19(1):e12–6.CrossRef

Chew HB, Ngu LH, Keng WT. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature. BMJ Case Rep. 2011;2011:bcr0220102706.PubMedPubMedCentral

Grudnikoff E, Foley C, Poole C, Theodosiadis E. Nocturnal anxiety in a youth with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD). J Can Acad Child Adol Psych. 2013;22(3):235.

Sethi K, Lee YH, Daugherty LE, Hinkle A, Johnson MD, Katzman PJ, et al. ROHHADNET Syndrome Presenting as Major Behavioral Changes in a 5-Year-Old Obese Girl. Pediatrics. 2014;134(2):e586–9.CrossRefPubMed

10.

Valea A, Silaghi CA, Ghervan CMV, Silaghi H, Florea M, Simionescu B, et al. Morbid Child Obesity with Possible ROHHADNET-ROHHAD Syndrome. Case Report Acta Endo (Buc). 2014;10(3):501–10.CrossRef

11.

Katz ES, McGrath S, Marcus CL. Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome. Pediatr Pulmonol. 2000;29(1):62–8.CrossRefPubMed

12.

Kocaay P, Şıklar Z, Çamtosun E, Kendirli T, Berberoğlu M. ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity. J Clin Res Pedi Endocrinol. 2014;6(4):254–7.CrossRef

13.

Elster AD, Chen MY, Williams 3rd DW, Key LL. Pituitary gland: MR imaging of physiologic hypertrophy in adolescence. Radiology. 1990;174:681–5.CrossRefPubMed

14.

Tien RD, Kucharczyk J, Bessette J, Middleton M. MR Imaging of the Pituitary Gland in Infants and Children: Changes in Size, Shape, and MR Signal with Growth and Development. AJR. 1992;158:1151–4.CrossRefPubMed

15.

Tsunoda A, Okuda O, Sato K. MR Height of the Pituitary Gland as a Function of Age and Sex: Especially Physiological Hypertrophy in Adolescence and in Climacterium. AJNR Am J Neuroradiol. 1997;18:551–4.PubMed

16.

Wiener SN, Rzeszotarski MS, Droege RT, Pearlstein AE, Shafron M. Measurement of pituitary gland height with MR imaging. AJNR Am J Neuroradiol. 1985;6(5):717–22.PubMed

17.

Sartori S, Priante E, Pettenazzo A, Marson P, Suppiej A, Benini F, et al. Intrathecal synthesis of Oligoclonal bands in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome: new evidence supporting immunological pathogenesis. J Child Neurol. 2014;29(3):421–5.CrossRefPubMed

18.

Patwari PP, Rand CM, Berry-Kravis EM, Jennings LJ, Yu M, et al. Rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): Report on identical twins discordant for ROHHAD phenotype. Pediatrics. 2011;128(3):711–5.

19.

Repetto GM, Corrales RJ, Abara SG, et al. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr. 2009;98:192–5.CrossRefPubMed

Title: Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report
Authors: Lama Aljabban
Lina Kassab
Nour Alhuda Bakoura
Mohammad Fayez Alsalka
Ismaeil Maksoud
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2016
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-016-1116-z

ACC 2024 Congress

Springer Medicine

Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report

Abstract

Background

Case presentation

Conclusions

ACC 2024 Congress

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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