title: Intrathecal synthesis of oligoclonal bands in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome: new evidence supporting immunological pathogenesis.
abstract: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome (ROHHADS) is a rare, but potentially lethal, pediatric disorder. To date, nearly 80 patients have been reported in the literature; however, the etiopathogenesis is still unclear and debated. Both genetic and paraneoplastic or immune-mediated causes have been supposed to be involved in this syndrome. Nonetheless, at this time, a diagnostic biomarker is not available and diagnosis is based exclusively on clinical criteria. Aiming to establish the immune-mediated pathogenesis, we report 2 children with a clinical picture consistent with ROHHADS and whose cerebrospinal fluid analysis disclosed an intrathecal synthesis of oligoclonal bands. Even if many aspects remain to be explained, this finding suggests that ROHHADS could share similar pathogenetic mechanisms with other immune-mediated central nervous system disorders, and even more important, it might pave the way to a therapeutic chance for these patients by means of immunotherapy.
authors.affiliation: 1Pediatric Neurology Unit, Division of Pediatrics, University of Padua, Padua, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Sartori
authors.forename: Elena
authors.initials: E
authors.lastname: Priante
authors.forename: Andrea
authors.initials: A
authors.lastname: Pettenazzo
authors.forename: Piero
authors.initials: P
authors.lastname: Marson
authors.forename: Agnese
authors.initials: A
authors.lastname: Suppiej
authors.forename: Franca
authors.initials: F
authors.lastname: Benini
authors.forename: Giorgio
authors.initials: G
authors.lastname: Perilongo
authors.forename: Irene
authors.initials: I
authors.lastname: Toldo
mesh_terms: D001342:Autonomic Nervous System Diseases / Q000134:cerebrospinal fluid*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007027:Hypothalamic Diseases / Q000134:cerebrospinal fluid*; D007040:Hypoventilation / Q000134:cerebrospinal fluid*; D008297:Male; D009765:Obesity / Q000134:cerebrospinal fluid*; D043025:Oligoclonal Bands / Q000134:cerebrospinal fluid*; D013577:Syndrome
chemical_list: D043025:Oligoclonal Bands
keywords: ROHHADS; central hypoventilation; hypothalamic dysfunction; oligoclonal bands