title: Aquaporin-4 autoimmunity in a child without optic neuritis and myelitis.
abstract: Neuromyelitis optica (NMO) is an inflammatory demyelinating disease with a poor prognosis that is characterized by inflammatory optic neuritis and myelitis. Although it is commonly misdiagnosed as multiple sclerosis (MS), distinguishing NMO from MS is important, as therapeutic approaches approved for MS are ineffective in patients with NMO. The aquaporin-4 (AQP4) antibody is a pathogenic and diagnostic biomarker for NMO. We report an AQP4 antibody-positive 9-year-old female with intractable hiccups and nausea (IHN). Brain imaging revealed lesions in the brainstem, thalami, and hypothalamus. Nevertheless, she had no clinical or radiological signs referable to the optic nerve or spinal cord. We propose that in patients with characteristic IHN associated lesions involving the brainstem or hypothalamus, measurement of AQP4 antibody should be considered for selectivity of treatment, even if the patient has no optic nerve or spinal cord lesions.
authors.affiliation: Department of Pediatrics, Japanease Red Cross Ishinomaki Hospital, Ishinomaki, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Yurika
authors.initials: Y
authors.lastname: Numata
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. Electronic address: uematsu@bk9.so-net.ne.jp.
authors.forename: Mitsugu
authors.initials: M
authors.lastname: Uematsu
authors.affiliation: Department of Pediatrics, Japanease Red Cross Ishinomaki Hospital, Ishinomaki, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Sato
authors.initials: S
authors.lastname: Suzuki
authors.affiliation: Department of Pediatrics, Japanease Red Cross Ishinomaki Hospital, Ishinomaki, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Miyabayashi
authors.affiliation: Department of Pediatrics, Japanease Red Cross Ishinomaki Hospital, Ishinomaki, Japan.
authors.forename: Toshifumi
authors.initials: T
authors.lastname: Oyama
authors.affiliation: Department of Pediatrics, Japanease Red Cross Ishinomaki Hospital, Ishinomaki, Japan.
authors.forename: Syouhei
authors.initials: S
authors.lastname: Kubota
authors.affiliation: Department of Pediatrics, Japanease Red Cross Ishinomaki Hospital, Ishinomaki, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Itoh
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Naomi
authors.initials: N
authors.lastname: Hino-Fukuyo
authors.affiliation: Department of Neurology, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Takahashi
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
mesh_terms: D051401:Aquaporin 4 / Q000276:immunology*; D001323:Autoantibodies / Q000097:blood / Q000276:immunology*; D001324:Autoantigens / Q000276:immunology; D001921:Brain / Q000473:pathology*; D002648:Child; D005260:Female; D006606:Hiccup / Q000276:immunology*; D006801:Humans; D009187:Myelitis / Q000473:pathology; D009325:Nausea / Q000276:immunology*; D009900:Optic Nerve / Q000473:pathology; D009902:Optic Neuritis / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology
chemical_list: C496030:AQP4 protein, human; D051401:Aquaporin 4; D001323:Autoantibodies; D001324:Autoantigens
keywords: Aquaporin-4; Intractable hiccups and nausea; Neuromyelitis optica