title: A common variable immunodeficient patient who developed acute disseminated encephalomyelitis followed by the Lennox-Gastaut syndrome.
abstract: Common variable immunodeficiency (CVID) is a primary disorder characterized by impaired antibody production. CVID patients may develop recurrent infections, autoimmune disorders, and malignant lymphomas, but to our knowledge, there is no report on CVID patients who develop acute disseminated encephalomyelitis (ADEM) or the Lennox-Gastaut syndrome. We describe a 1-yr-old female CVID patient with ADEM who evolutionally manifested the Lennox-Gastaut syndrome. She was admitted with convulsions and T2-weighted magnetic resonance imaging (MRI) revealed high-intensity areas in the right temporal lobe and the left fronto-parietal region but she became conscious soon. Her serum findings showed severe hypogammaglobulinemia and a follow up MRI revealed that these areas had diminished. Consequently, she was diagnosed as having CVID with ADEM. After 5 months, she fell to having tonic and absence seizures and we diagnosed her as having the Lennox-Gastaut syndrome from electroencephalograms (EEG) and the seizure pattern. She is now 7 yr old and her tonic seizures are controlled with valproic acid, clobazam, and immunoglobulin replacement therapy which is administrated every 2 wk. It is well known that the immune and neurologic systems have a close relationship. We suspect that a genetic defect in the immune system of our patient might also be associated with the neurologic disorders of ADEM and the Lennox-Gastaut syndrome.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. g2104012@guedu.cc.gifu-u.ac.jp
authors.forename: Masashi
authors.initials: M
authors.lastname: Kondo
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukao
authors.forename: Takahide
authors.initials: T
authors.lastname: Teramoto
authors.forename: Hideo
authors.initials: H
authors.lastname: Kaneko
authors.forename: Yukitoshi
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Okamoto
authors.forename: Naomi
authors.initials: N
authors.lastname: Kondo
mesh_terms: D017074:Common Variable Immunodeficiency / Q000150:complications* / Q000276:immunology; D018450:Disease Progression; D004660:Encephalitis / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D012640:Seizures / Q000188:drug therapy / Q000209:etiology*; D013577:Syndrome