open access

Vol 67, No 2 (2016)
Case report
Published online: 2016-01-27
Submitted: 2015-01-09
Accepted: 2015-02-25
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ROHHAD in 9-year-old boy — clinical case

Karolina Kot, Elżbieta Moszczyńska, Agnieszka Lecka-Ambroziak, Marek Migdał, Mieczysław Szalecki
DOI: 10.5603/EP.a2016.0037
·
Endokrynologia Polska 2016;67(2):226-231.

open access

Vol 67, No 2 (2016)
Case report
Published online: 2016-01-27
Submitted: 2015-01-09
Accepted: 2015-02-25

Abstract

ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation) is characterised by rapid-onset obesity in young children, hypoventilation, and hypothalamic and autonomic dysfunction. The exact aetiology of the disease remains unknown, and the number of reported cases seems to be underestimated.

We present the case of a nine-year-old male patient suspected of ROHHAD due to weight gain since early childhood, decreased height velocity, hypoventilation, hypodipsia, excessive perspiration, and pyrexial episodes. The presented symptoms, and laboratory and imaging findings met the criteria of ROHHAD syndrome.

ROHHAD should be considered in differential diagnosis for obesity in children. Early identification of the disease prevents potential complications specific for the syndrome, in particular a life-threatening cardio-pulmonary arrest. Patients with ROHHAD require regular follow-up by a multidisciplinary team. (Endokrynol Pol 2016; 67 (2): 226–231)

Abstract

ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation) is characterised by rapid-onset obesity in young children, hypoventilation, and hypothalamic and autonomic dysfunction. The exact aetiology of the disease remains unknown, and the number of reported cases seems to be underestimated.

We present the case of a nine-year-old male patient suspected of ROHHAD due to weight gain since early childhood, decreased height velocity, hypoventilation, hypodipsia, excessive perspiration, and pyrexial episodes. The presented symptoms, and laboratory and imaging findings met the criteria of ROHHAD syndrome.

ROHHAD should be considered in differential diagnosis for obesity in children. Early identification of the disease prevents potential complications specific for the syndrome, in particular a life-threatening cardio-pulmonary arrest. Patients with ROHHAD require regular follow-up by a multidisciplinary team. (Endokrynol Pol 2016; 67 (2): 226–231)

Get Citation

Keywords

ROHHAD syndrome; obesity; central hypoventilation; hypothalamus dysfunction

About this article
Title

ROHHAD in 9-year-old boy — clinical case

Journal

Endokrynologia Polska

Issue

Vol 67, No 2 (2016)

Pages

226-231

Published online

2016-01-27

DOI

10.5603/EP.a2016.0037

Bibliographic record

Endokrynologia Polska 2016;67(2):226-231.

Keywords

ROHHAD syndrome
obesity
central hypoventilation
hypothalamus dysfunction

Authors

Karolina Kot
Elżbieta Moszczyńska
Agnieszka Lecka-Ambroziak
Marek Migdał
Mieczysław Szalecki

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