Síndrome de Lesch-Nyhan en gemelos dicigóticos.
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| Title: | Síndrome de Lesch-Nyhan en gemelos dicigóticos. |
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| Alternate Title: | Lesch-Nyhan syndrome in dizygotic twins. |
| Authors: | Garcia, Rocio V.1 (AUTHOR) rociogarcia.neuro@gmail.com, Specola, Norma2 (AUTHOR), Ivarola, Paula1 (AUTHOR), Caraballo, Roberto1 (AUTHOR) |
| Source: | Medicina (Buenos Aires). mar/abr2025, Vol. 85 Issue 2, p445-448. 4p. |
| Subjects: | DIZYGOTIC twins, DEVELOPMENTAL delay, ENZYME deficiency, DENTAL extraction, SELF-mutilation |
| Abstract (English): | Lesch-Nyhan syndrome is an inborn error of pu rine metabolism caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase, with X-linked inheritance. At present, there are a few cases available in the international literature of twins with this condition. The object of this publication is to report the case of two twins with Lesch-Nyhan syndrome and to describe the clinical and therapeutic management. We present two dizygotic 10-year-old twins, with global developmental delay and nephrolithiasis, who devel oped dystonia and self-mutilation. The diagnosis was suspected due to the developmental delay associated with dystonia and hyperuricemia in two male patients, as in most of these patients. It was confirmed with the measurement of enzymatic activity, being undetectable. They required multiple therapeutic schemes, including extraction of teeth and restraint measures to avoid major injuries. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): | El síndrome de Lesch-Nyhan (SLN) es un defecto congénito del metabolismo de las purinas generado por el déficit de la enzima hipoxantina-guanina fosfo rribosiltransferasa, de herencia ligada al cromosoma X, con una prevalencia de 1 en 2 millones de personas. Al momento, existen escasas comunicaciones en la bibliografía internacional acerca de gemelos con esta enfermedad. El objetivo de este trabajo es reportar el caso de ge melos con SLN y describir el manejo clínico y terapéuti co. Presentamos el caso de dos gemelares dicigóticos de 10 años, que iniciaron con retraso global del desarrollo, nefrolitiasis, que evolucionaron con distonías y automu tilación. La sospecha diagnóstica surgió ante el retraso del desarrollo motor, asociado a distonías e hiperurice mia en ambos pacientes, al igual que en la mayoría de los casos publicados, confirmándose con la medición de la actividad enzimática indetectable. En cuanto a los esquemas terapéuticos, recibieron múltiples planes, incluso la extracción de piezas denta rias y medidas de sujeción para evitar lesiones de mayor gravedad. Estos casos reflejan que el retraso madurativo en varones, asociado a hiperuricemia, debe orientarnos al diagnóstico de SLN, el cual debe ser confirmado con medición de actividad enzimática. [ABSTRACT FROM AUTHOR] |
| Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | MedicLatina |
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| Abstract: | Lesch-Nyhan syndrome is an inborn error of pu rine metabolism caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase, with X-linked inheritance. At present, there are a few cases available in the international literature of twins with this condition. The object of this publication is to report the case of two twins with Lesch-Nyhan syndrome and to describe the clinical and therapeutic management. We present two dizygotic 10-year-old twins, with global developmental delay and nephrolithiasis, who devel oped dystonia and self-mutilation. The diagnosis was suspected due to the developmental delay associated with dystonia and hyperuricemia in two male patients, as in most of these patients. It was confirmed with the measurement of enzymatic activity, being undetectable. They required multiple therapeutic schemes, including extraction of teeth and restraint measures to avoid major injuries. [ABSTRACT FROM AUTHOR] |
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| ISSN: | 00257680 |
