RESUMEN

We report a novel germ-line point mutation in the von Hippel-Lindau (vhl) gene in a family with childhood occurrence of isolated pheochromocytoma. Two members of this family (the father and his son) were affected. The son had bilateral adrenal pheochromocytoma and the father had one adrenal and one extra-adrenal localization. Both patients presented cardiac arrest while exposed to surgical stress and severe hypoglycemia was registered in the son. The outcome was uneventful. A DNA sequence analysis of vhl tumor suppressor gene revealed the L163R mutation. This new mutation may be specifically associated with the von Hippel-Lindau type 2C disease phenotype. Whether this mutation is linked to the metabolic alterations developed by these patients remains to be determined.

Asunto(s)

Neoplasias de las Glándulas Suprarrenales/genética , Mutación de Línea Germinal , Feocromocitoma/genética , Mutación Puntual , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/genética , Enfermedad de von Hippel-Lindau/genética , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasias de las Glándulas Suprarrenales/orina , Adulto , Arginina , Niño , Estudios de Seguimiento , Genes Supresores de Tumor , Predisposición Genética a la Enfermedad , Humanos , Leucina , Imagen por Resonancia Magnética , Masculino , Linaje , Feocromocitoma/diagnóstico , Feocromocitoma/orina , Proto-Oncogenes/genética , Análisis de Secuencia de ADN , Enfermedad de von Hippel-Lindau/diagnóstico , Enfermedad de von Hippel-Lindau/orina