title: Successful treatment for West syndrome with severe combined immunodeficiency.
abstract: Several immune mechanisms are suspected in the unknown etiology of West syndrome (WS). We report a male infant who suffered from WS and X-linked T-B+NK- severe combined immunodeficiency (X-SCID) with a missense mutation of the IL2RG gene (c.202G>A, p.Glu68Lys). He promptly began vitamin B6 and valproic acid treatment, but infantile spasms (IS) and hypsarrhythmia persisted. Administration of intravenous immunoglobulin and the change to topiramate (TPM) at 7 months of age resulted in the rapid resolution of IS. The CD4/8 ratio in his peripheral blood increased from 0.04-0.09 to 0.20-1.95 following unrelated cord blood transplantation (UCBT). In vitro lymphocyte proliferation in response to phytohemagglutinin or concanavalin A and the ability of B lymphocytes to produce antibodies improved as well. Electroencephalogram findings became normal 1 month after UCBT. Thus, we consider that T-cell dysfunction and/or impairments in T-B cell interactions due to X-SCID may have played important roles in the onset of WS. Immune-modulating therapies along with the administration of TPM effectively treated this severe epileptic syndrome in our patient.
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Motobayashi
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan. Electronic address: inabay@shinshu-u.ac.jp.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Inaba
authors.affiliation: Department of Neuropediatrics, Nagano Children's Hospital, Azumino, Japan.
authors.forename: Tetsuhiro
authors.initials: T
authors.lastname: Fukuyama
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Kurata
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Taemi
authors.initials: T
authors.lastname: Niimi
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Shoji
authors.initials: S
authors.lastname: Saito
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Shiba
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Takafumi
authors.initials: T
authors.lastname: Nishimura
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Tomonari
authors.initials: T
authors.lastname: Shigemura
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Yozo
authors.initials: Y
authors.lastname: Nakazawa
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Norimoto
authors.initials: N
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Sakashita
authors.affiliation: Department of Infection and Host Defense, Graduate School of Medicine, Shinshu University, Matsumoto, Japan.
authors.forename: Kazunaga
authors.initials: K
authors.lastname: Agematsu
authors.affiliation: Department of Family and Child Nursing, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Motoki
authors.initials: M
authors.lastname: Ichikawa
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Koike
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001402:B-Lymphocytes / Q000187:drug effects / Q000276:immunology; D002675:Child, Preschool; D005632:Fructose / Q000031:analogs & derivatives / Q000627:therapeutic use; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007223:Infant; D007231:Infant, Newborn; D053631:Interleukin Receptor Common gamma Subunit / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D016511:Severe Combined Immunodeficiency / Q000150:complications* / Q000276:immunology / Q000628:therapy*; D013036:Spasms, Infantile / Q000150:complications* / Q000276:immunology / Q000628:therapy*; D013601:T-Lymphocytes / Q000187:drug effects / Q000276:immunology; D000077236:Topiramate
chemical_list: D000927:Anticonvulsants; C507941:IL2RG protein, human; D016756:Immunoglobulins, Intravenous; D053631:Interleukin Receptor Common gamma Subunit; D000077236:Topiramate; D005632:Fructose
keywords: CD4/8; Hematopoietic stem cell transplantation; Intravenous injection of immunoglobulin; Severe combined immunodeficiency syndrome; West syndrome