A female patient with Lesch-Nyhan syndrome.
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.
Yukawa
T
T
Ehime Disabled Children's Hospital, Japan.
Akazawa
H
H
Miyake
Y
Y
Takahashi
Y
Y
Nagao
H
H
Takeda
E
E
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