ABSTRACT
We report two Lesch-Nyhan Disease (LND) patients who developed new forms of self-injurious behavior following total dental extraction. Patients 1 and 2 were submitted to total teeth extraction at the age of 13 and 8 years, respectively, due to continuous self-biting, not prevented by mouth guards. Severity of dystonia was markedly reduced and quality of life improved. After 12 and 17 months, respectively, patient 1 started rubbing one foot against other and scratching toenails with his hands, and patient 2 stuck his legs and feet against hard objects. These forms of self-injury behavior could be easily prevented with protective materials, according to the mothers.
Subject(s)
Lesch-Nyhan Syndrome/diagnosis , Self-Injurious Behavior/diagnosis , Adolescent , Child , Humans , Lesch-Nyhan Syndrome/psychology , Lesch-Nyhan Syndrome/surgery , Male , Quality of Life , Self-Injurious Behavior/prevention & control , Tooth ExtractionABSTRACT
No disponible
Subject(s)
Humans , Male , Anesthesia/methods , Anesthesia , Lesch-Nyhan Syndrome/drug therapy , Lesch-Nyhan Syndrome/surgery , Hypoxanthine Phosphoribosyltransferase , Anesthesiology/instrumentation , Lesch-Nyhan Syndrome/metabolism , Lesch-Nyhan Syndrome/prevention & control , Lesch-Nyhan Syndrome/physiopathologySubject(s)
Deep Brain Stimulation/history , Deep Brain Stimulation/statistics & numerical data , Lesch-Nyhan Syndrome , Community Mental Health Services/methods , Deep Brain Stimulation/methods , Deep Brain Stimulation/psychology , Deep Brain Stimulation/trends , Genetic Diseases, X-Linked/etiology , History, 20th Century , History, 21st Century , Humans , Japan , Lesch-Nyhan Syndrome/chemically induced , Lesch-Nyhan Syndrome/complications , Lesch-Nyhan Syndrome/congenital , Lesch-Nyhan Syndrome/diagnosis , Lesch-Nyhan Syndrome/etiology , Lesch-Nyhan Syndrome/genetics , Lesch-Nyhan Syndrome/history , Lesch-Nyhan Syndrome/mortality , Lesch-Nyhan Syndrome/pathology , Lesch-Nyhan Syndrome/psychology , Lesch-Nyhan Syndrome/rehabilitation , Lesch-Nyhan Syndrome/surgery , Lesch-Nyhan Syndrome/therapy , Lesch-Nyhan Syndrome/urine , Male , Self-Injurious Behavior/etiology , Self-Injurious Behavior/genetics , Self-Injurious Behavior/history , United StatesABSTRACT
The use of bone marrow transplantation (BMT) for the treatment of genetic diseases with neurologic involvement has yielded mixed results. We have employed a mouse model of Lesch-Nyhan disease (LND) to assess the efficacy of BMT in ameliorating the neurologic manifestations of the disease. Adult HPRT-deficient mice exhibit a measurable decrease in striatal dopamine levels and a hypersensitivity to amphetamine. Marrow-ablated adult HPRT-deficient mice were transplanted with marrow from congenic HPRT-expressing mice. BMT altered neither the neurochemical nor the behavioral phenotypes in either HPRT-positive or HPRT-deficient mice. Barring any important species differences, these results suggest that BMT in its present form may not be an effective therapy for Lesch-Nyhan syndrome.
Subject(s)
Bone Marrow Transplantation , Hypoxanthine Phosphoribosyltransferase/deficiency , Nervous System Diseases/etiology , Animals , Behavior, Animal/drug effects , Behavior, Animal/physiology , Dextroamphetamine/pharmacology , Disease Models, Animal , Dopamine/metabolism , Female , Lesch-Nyhan Syndrome/metabolism , Lesch-Nyhan Syndrome/physiopathology , Lesch-Nyhan Syndrome/psychology , Lesch-Nyhan Syndrome/surgery , Mice , Mice, Inbred C57BL , Prosencephalon/metabolismABSTRACT
El síndrome de Lesch-Nyhan es una enfermedad genética ligada al cromosoma X, originada por un defecto en el gen que codifica la hipoxantia guanina fosforribosiltransferasa (HGPRT). Esta enzima participa en la recuperación de la guanina e hipoxantina. La deficiencia enzemática conlleva una acumulación exagerada del ácido úrico. La deficiencia total o casi total de la enzima, produce el síndrome de Lesch-Nyhan, el cual se caracteriza por hiperruricemia, hiperaciduria, coreoatetosis, hiperreflexia, retardo mental y autoagresividad. La deficiencia parcial de la enzima ocasiona artritis gotosa y nefrolitiasis sin daño neurológico.
