July - September 2014, Volume 10, Issue 3

Valea A, Silaghi C.A, Ghervan C.M.V., Silaghi H., Florea M., Simionescu B., Bizo A., Cornean RE

Morbid Child Obesity with Possible Rohhadnet=Rohhad Syndrome. Case Report

Acta Endo (Buc) 2014, 10 (3): 515-524
doi: 10.4183/aeb.2014.515

Background. ROHHADNET syndrome is a pleiotropic disorder defined by rapid onset of obesity, hypothalamic-pituitary endocrine dysfunctions, alveolar hypoventilation and hypothalamic autonomic dysregulation and neural tumors. Case presentation. We report the case of a 5.8-year-old female patient with rapid onset of obesity and growth arrest, hypercortisolism, hyperprolactinemia, low IGF1, severe hypernatremia (with no signs of diabetes insipidus) and chronic hyperchloremic metabolic acidosis. Additional symptoms included sleep apnea and two episodes of cardiopulmonary arrest after mild sedation. Brain MRI, chest and abdominal enhanced CT scans were all negative. As no tumors were revealed at the time of diagnosis, ROHHAD syndrome was suspected. Treatment with potassium bicarbonate was initiated in an attempt to control both the severe hypernatremia and chronic hyperchloremic metabolic acidosis. Patient developed dilated cardiomyopathy and kaliopenic nephropathy. Conclusion. The presence of dilated cardiomyopathy is in keeping with only one other reported case, while the severe hypernatremia joined by hyperchloremic metabolic acidosis seen in our patient has not been presented previously. Although it is a very rare medical condition, ROHHAD syndrome has to be considered in the differential diagnosis of any case with rapid onset obesity associated with hypothalamic-pituitary endocrine dysfunctions, and alveolar hypoventilation.

Keywords: hypernatremia, hypothalamic - pituitary dysfunction, hypoventilation, obesity, Rohhadnet syndrome.

Correspondence: Cristina Alina Silaghi, MD, PhD, County Emergency Hospital, Department of Endocrinology, 3rd Pasteur Str, Cluj-Napoca, 400349, Romania; E-mail:alinasilaghi@yahoo.com