title: A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia.
abstract: We report a 2-month-old male with West syndrome associated with infantile hypophosphatasia. The male infant was born at term to a healthy mother after an uneventful pregnancy. He was born by cesarean section because of breech presentation. He was observed to have short extremities, and radiographs were consistent with achondroplasia. The serum alkaline phosphatase level was 2 IU/dL. Intractable tonic seizures developed 2 days after birth, and an electroencephalogram revealed a burst-suppression pattern for the first 2 months of life. The seizures were uncontrollable with conventional antiepileptic drugs. At the age of 2 months, he had a series of infantile spasms, and the electroencephalogram indicated hypsarrhythmia. Treatment with high-dose pyridoxal phosphate eliminated his seizures.
authors.affiliation: Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Yamamoto
authors.forename: Yuka
authors.initials: Y
authors.lastname: Sasamoto
authors.forename: Yusaku
authors.initials: Y
authors.lastname: Miyamoto
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Murakami
authors.forename: Noriko
authors.initials: N
authors.lastname: Kamiyama
mesh_terms: D002851:Chromatography, High Pressure Liquid; D004305:Dose-Response Relationship, Drug; D004569:Electroencephalography / Q000187:drug effects; D017809:Fatal Outcome; D005500:Follow-Up Studies; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis / Q000188:drug therapy*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011732:Pyridoxal Phosphate / Q000627:therapeutic use*; D013036:Spasms, Infantile / Q000175:diagnosis / Q000188:drug therapy*; D016896:Treatment Outcome; D005680:gamma-Aminobutyric Acid / Q000134:cerebrospinal fluid
chemical_list: D005680:gamma-Aminobutyric Acid; D011732:Pyridoxal Phosphate