1. The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report
- Author
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Atsuo Taniguchi, Takaaki Sawada, Ken Momosaki, Shiro Matsumoto, Jun Kido, Shiro Ozasa, Tomoyuki Akiyama, and Kimitoshi Nakamura
- Subjects
Pediatrics ,medicine.medical_specialty ,Choreoathetosis ,Case Report ,Disease ,lcsh:RC346-429 ,03 medical and health sciences ,0302 clinical medicine ,Quality of life ,T%22">g.151C>T ,medicine ,Laryngeal stridor ,030212 general & internal medicine ,Laryngeal dystonia ,lcsh:Neurology. Diseases of the nervous system ,Self-injury ,Dystonia ,S-adenosylmethionine ,Risperidone ,business.industry ,Lesch-Nyhan disease ,medicine.disease ,Lesch-Nyhan Disease ,Bronchitis ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery ,medicine.drug - Abstract
Lesch-Nyhan disease (LND) is an X-linked recessive disorder caused by a deficiency in hypoxanthine-guanine phosphoribosyl transferase. Patients with LND experience involuntary movements, including dystonia, choreoathetosis, opisthotonos, ballismus, and self-injury. Alleviating these involuntary movements is important to improve the quality of life in patients with LND. Many clinicians have difficulty controlling these involuntary movements in their patients, and there are no established and effective treatments. A 6-month-old boy with LND presented with generalized dystonia and self-injury behavior that was alleviated after receiving S-adenosylmethionine (SAMe). His self-injury behavior completely resolved after he received SAMe and risperidone. Although he had often experienced inspiratory stridor because of laryngeal dystonia and frequently developed aspiration pneumonitis and bronchitis, no inspiratory stridor was noted after SAMe treatment. The patient is continuing to receive SAMe and risperidone. SAMe treatment alleviates dystonic movements and improves quality of life in pediatric patients with LND. Additional research is needed to determine the long-term safety and efficacy of SAMe and its appropriate dosage.
- Published
- 2019