ROHHAD-NET Syndrome: A Case Series.

Abstract

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHAD-NET) though a rare disease, is potentially fatal. It is of utmost importance to be understood and urgently diagnosed. We hereby report a series of three cases, the first of its kind from India. Children older than 18 months old usually exhibit rapid weight growth as a presenting symptom. Hypothalamic dysfunction could lead to endocrine issues, respiratory dysfunction and autonomic dysregulation. Over the years, with variable timing, one or more signs of hypothalamic dysfunction appear: hyperprolactinemia, growth hormone deficiency, central hypothyroidism, central adrenal insufficiency or Cushing syndrome, early or delayed puberty, water-electrolyte balance disorders. The diagnosis is difficult because there is no reliable test, and the treatment is mainly supportive. All the three children who were thriving well, presented with rapid weight gain and then developed symptoms of hypothalamic dysfunction. While in one a neural crest tumor was incidentally detected, the second had persistent hypernatremia and the third child presented with intestinal obstruction. The varied presentation and vague symptom spectrum exhibit a diagnostic challenge to the clinician and underscores the importance of creating awareness. An individualized strategic approach is needed as it is clinically difficult to distinguish ROHHAD syndrome from other obesity syndromes of genetic origin.