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Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome
Ana Beatriz Serafim1, Gemma Olivé-Cirera1, Ángel Ortega-González1
1From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.
Objectives:
To report the association of zinc finger and SCAN domain containing 1 antibodies (ZSCAN1-abs) with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome in patients without tumor.
Methods:
Patients with symptoms compatible with ROHHAD syndrome but without an associated tumor were selected from our database. Serum and CSF samples were examined for the presence of ZSCAN1-abs by an in-house cell-based assay. In addition, samples from 149 patients with several inflammatory and noninflammatory disorders and 50 healthy participants served as controls.
Results:
Thirteen patients with ROHHAD syndrome were identified. Of these, we had paired serum/CSF samples from 6 patients and only serum from the other 7. Five of 6 patients (83.3%) with paired serum/CSF (4 children, 1 adult) had ZSCAN-abs only in CSF and 1 had antibodies in serum and CSF. ZSCAN1-abs were not detected in the remaining 7 patients with ROHHAD with only serum available or in any of the 199 control samples.
Discussion:
Patients with ROHHAD syndrome should be investigated for the presence of ZSCAN1-abs in CSF. The antibodies do not necessarily predict the presence of a tumor. The detection of ZSCAN1-abs in an adult patient suggests that this condition also occurs beyond the pediatric age.
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