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ROHHAD in 9-year-old boy — clinical case
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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)
Keywords
ROHHAD syndrome; obesity; central hypoventilation; hypothalamus dysfunction
About this articleTitle
ROHHAD in 9-year-old boy — clinical case
Journal
Issue
Article type
Case report
Pages
226-231
Published online
2016-01-27
Page views
2228
Article views/downloads
2875
DOI
10.5603/EP.a2016.0037
Pubmed
Bibliographic record
Endokrynol Pol 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
