Improved behavior and neuropsychological function in children with ROHHAD after high-dose cyclophosphamide

Lisa A. Jacobson, Shruti Rane, Lisa J. McReynolds, Diana A. Steppan, Allen R. Chen, Ido Paz-Priel

Research output: Contribution to journalArticlepeer-review

Abstract

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is a rare, generally progressive, and potentially fatal syndrome of unclear etiology. The syndrome is characterized by normal development followed by a sudden, rapid hyperphagic weight gain beginning during the preschool period, hypothalamic dysfunction, and central hypoventilation, and is often accompanied by personality changes and developmental regression, leading to substantial morbidity and mortality. We describe 2 children who had symptomatic and neuropsychological improvement after high-dose cyclophosphamide treatment. Our experience supports an autoimmune pathogenesis and provides the first neuropsychological profile of patients with rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation.

Original languageEnglish (US)
Article numbere20151080
JournalPediatrics
Volume138
Issue number1
DOIs
StatePublished - Jul 2016

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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