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<p>&#xa0;</p><p>Lesch-Nyhan Syndrome is a rare X-linked recessive genetic disorder of purine metabolism resulting from mutation of hypoxanthine-guanine phosphoribosyltransferase (HPTR) gene on X chromosome and subsequently its enzyme. Patients have hyperuricaemia, neurobehavioral phenotype which includes mental retardation, motor disability, hypo or hypertonia, dystonia, ballismus and involuntary movements and opisthotonus. Atlanto-axial instability or subluxation is a rare condition in children, usually predominant in Down Syndrome. Children present with neck pain, head tilt, temporary or permanent neck deformity or cervical myelopathy. In literature are described cases of Lesch-Nyhan Syndrome patients associated with atlanto-axial instability. The relationship behind these findings seems to be found, from one hand, in the involvement of cervical spinal cord directly from metabolism defect and, to the other hand, indirectly from involuntary neck movements. Viewers will have the occasion to see one case of occipito-cervical instability due to atlanto-axial subluxation in 5 years old Lesch-Nyhan Syndrome patient and&#xa0; its stabilization and fusion.</p>

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Occipito-cervical instability in Lesch-Nyhan pediatric patient

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  • 发表日期：

    2025年

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  • Giuseppe Cinalli,
  • Francesca Sarti

摘要

 

Lesch-Nyhan Syndrome is a rare X-linked recessive genetic disorder of purine metabolism resulting from mutation of hypoxanthine-guanine phosphoribosyltransferase (HPTR) gene on X chromosome and subsequently its enzyme. Patients have hyperuricaemia, neurobehavioral phenotype which includes mental retardation, motor disability, hypo or hypertonia, dystonia, ballismus and involuntary movements and opisthotonus. Atlanto-axial instability or subluxation is a rare condition in children, usually predominant in Down Syndrome. Children present with neck pain, head tilt, temporary or permanent neck deformity or cervical myelopathy. In literature are described cases of Lesch-Nyhan Syndrome patients associated with atlanto-axial instability. The relationship behind these findings seems to be found, from one hand, in the involvement of cervical spinal cord directly from metabolism defect and, to the other hand, indirectly from involuntary neck movements. Viewers will have the occasion to see one case of occipito-cervical instability due to atlanto-axial subluxation in 5 years old Lesch-Nyhan Syndrome patient and  its stabilization and fusion.