Vol 67, No 2 (2016)
Case report
Published online: 2016-01-27

open access

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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
Pubmed: 26884306
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)