title: A female patient with Lesch-Nyhan syndrome.
abstract: The authors report the second case of a female with typical Lesch-Nyhan syndrome. She exhibited athetoid movement, self-multilation, mental retardation and spasticity. Laboratory investigations revealed hyperuricaemia, hyperuricosuria and decreased erythrocyte hypoxanthine guanine phosphoribosyl transferase activity. She has normal female external genitalia and karyotype. Her parents are non-consanguineous and there is no family member with gout, nephropathy or any psychoneurological disorder. To prevent self-stimulation, it was necessary to fix the patient's upper extremities to the backrest of her wheelchair. The authors also describe an apparatus that limits elbow flexion.
authors.affiliation: Ehime Disabled Children's Hospital, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yukawa
authors.forename: H
authors.initials: H
authors.lastname: Akazawa
authors.forename: Y
authors.initials: Y
authors.lastname: Miyake
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
authors.forename: H
authors.initials: H
authors.lastname: Nagao
authors.forename: E
authors.initials: E
authors.lastname: Takeda
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D007621:Karyotyping; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D010375:Pedigree; D012652:Self Mutilation / Q000517:prevention & control; D012737:Sex Factors