Información adicional

• Num_publicacion 65(2)
• Resumen_ingles

  The triad of oligophrenia, congenital ichthyosis and hypogona¬dism constitutes Rud's syndrome, an entity that is rarely reported in the world medical literature. Other less common features such as seizures, epilepsy, short stature, retinitis pigmentosa, hypertrophic polyneuropathy or neurosensory hearing loss have also been reported in these patients. Rud's syndrome is one of the so-called keratotic neurocutaneous syndromes, which include other better defined entities such as Sjögren-Larsson syndrome and Refsum di¬s¬ease. We report the case of a 13-year-old boy who met the clinical criteria for Rud's syndrome, which was associated with unilateral renal agenesis and the development of a soft tissue sarcoma.

• Palabras_clave_ingles Rud’s syndrome oligophrenia congenital ichthyosis hypogonadism keratotic neurocutaneous syndromes
• Todos_autores D. Crespo Marcos, P. Chimenti Camacho, M. Echeverría Fernández, M.D. Rodríguez Arnao, A. Rodríguez Sánchez
• autores listados D. Crespo Marcos, P. Chimenti Camacho, M. Echeverría Fernández, M.D. Rodríguez Arnao, A. Rodríguez Sánchez
• Correspondecia
  D. Crespo Marcos. Unidad de Metabolismo y Desarrollo. Departamento de Pediatría. Hospital General Universitario «Gregorio Marañón». Dr. Esquerdo, 46. 28007 Madrid.
  Correo electrónico: davidkrespo@yahoo.com
• Titulo_ingles Rud’s syndrome: report of a new case
• Centros_trabajo Unidad de Metabolismo y Desarrollo. Departamento de Pediatría. Hospital General Universitario «Gregorio Marañón». Madrid
• Publicado en Acta Pediatr Esp. 2007; 65(2): 82-83
• copyright ©2007 Ediciones Mayo, S.A.
• Fecha recepcion 09/10/06
• Fecha aceptacion 09/10/06