Improved Behavior and Neuropsychological Function in Children With ROHHAD After High-Dose Cyclophosphamide.
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.
Department of Neuropsychology, Kennedy Krieger Institute, Baltimore, Maryland; and Department of Psychiatry and Behavioral Sciences, and jacobson@kennedykrieger.org.
Lisa A
LA
Jacobson
Department of Neuropsychology, Kennedy Krieger Institute, Baltimore, Maryland; and.
Shruti
S
Rane
Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Lisa J
LJ
McReynolds
Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Diana A
DA
Steppan
Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Allen R
AR
Chen
Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Ido
I
Paz-Priel
D001342:Autonomic Nervous System Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000523:psychology; D002652:Child Behavior; D002675:Child, Preschool; D003520:Cyclophosphamide / Q000008:administration & dosage* / Q000627:therapeutic use; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D005260:Female; D006801:Humans; D007027:Hypothalamic Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000523:psychology; D007040:Hypoventilation / Q000175:diagnosis / Q000188:drug therapy* / Q000523:psychology; D007166:Immunosuppressive Agents / Q000008:administration & dosage* / Q000627:therapeutic use; D008297:Male; D009483:Neuropsychological Tests; D063766:Pediatric Obesity / Q000175:diagnosis / Q000188:drug therapy* / Q000523:psychology; D013577:Syndrome
D007166:Immunosuppressive Agents; D003520:Cyclophosphamide