title: A case of the Rett syndrome with acute encephalopathy induced during calcium hopantenate treatment.
abstract: We report a girl with the Rett syndrome who had acute encephalopathy probably induced by calcium hopantenate (HOPA). This 4-year-6-month-old girl had a history of moderate developmental delay and had received HOPA administration when first admitted at 2 years 6 months of age with hypoglycemia, hyperammonemia, lactic and pyruvic acidemia, and non-ketotic dicarboxylic aciduria. After this episode, she showed the rapid destructive stage of the Rett syndrome, i.e., severe psychomotor retardation with loss of speech, peculiar stereotypic hand movements, autistic behavior and seizures. Despite subsequent investigations, including analysis of urinary metabolites of organic and amino acids, measurement of serum carnitine and a muscle biopsy, we could not clarify the primary metabolic abnormalities in this girl.
authors.affiliation: Department of Pediatrics, Kyorin University School of Medicine, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
authors.forename: M
authors.initials: M
authors.lastname: Minagawa
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
authors.forename: H
authors.initials: H
authors.lastname: Ichihashi
mesh_terms: D000208:Acute Disease; D001786:Blood Glucose / Q000378:metabolism; D001927:Brain Diseases / Q000139:chemically induced* / Q000378:metabolism; D002264:Carboxylic Acids / Q000652:urine; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000188:drug therapy*; D010205:Pantothenic Acid / Q000009:adverse effects / Q000031:analogs & derivatives* / Q000627:therapeutic use; D015518:Rett Syndrome / Q000139:chemically induced* / Q000378:metabolism; D005680:gamma-Aminobutyric Acid / Q000009:adverse effects / Q000031:analogs & derivatives* / Q000627:therapeutic use
chemical_list: D001786:Blood Glucose; D002264:Carboxylic Acids; C016030:pantogab; D010205:Pantothenic Acid; D005680:gamma-Aminobutyric Acid