Subject(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
To increase awareness of sudden and unexpected death in Lesch-Nyhan disease (LND) and to explore its potential causes, we report the anteceding clinical features and laboratory evaluations of five males with LND who ultimately experienced sudden and unexpected death, along with three additional males who suffered serious respiratory events during life. The ages of patients ranged from 2 to 45 years. The cause of sudden death in LND appears to have a respiratory rather than a cardiogenic basis. All cases cannot be linked readily with a single respiratory process. Instead, different respiratory processes appear to operate in different cases. These may include aspiration, laryngospasm, central apnea, cyanotic breath-holding spells, and high cervical spine damage. Better recognition of these processes will help to guide appropriate workup and management that could include chest imaging, endoscopy of the airways, polysomnography, electroencephalogram, and brain and/or spine imaging.
Subject(s)
Death, Sudden/etiology , Lesch-Nyhan Syndrome/complications , Lesch-Nyhan Syndrome/pathology , Adolescent , Adult , Cause of Death , Child , Child, Preschool , Death, Sudden/pathology , Humans , Lesch-Nyhan Syndrome/mortality , Male , Middle AgedABSTRACT
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.
