RESUMEN
Autosomal dominant polycystic kidney disease (ADPKD) is a generalized disease known to be associated with intracranial aneurysms. Non-aneurysmal intracerebral hemorrhage (ICH) has also been reported in ADPKD. We report a familial clustering of ICH and symptomatic ADPKD. This pedigree had at least six affected family members who suffered from ADPKD, hypertension and non-aneurysmal ICH. The proband demonstrated ADPKD, hypertension and cerebral hemorrhage. To our knowledge, this is the first report of familial ICH in ADPKD, which may have underlying genetic and environmental etiologies.
Asunto(s)
Salud de la Familia , Hemorragia Intracraneal Hipertensiva/complicaciones , Riñón Poliquístico Autosómico Dominante/complicaciones , Adulto , Femenino , Humanos , Hemorragia Intracraneal Hipertensiva/genética , Hemorragia Intracraneal Hipertensiva/patología , Riñón/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Riñón Poliquístico Autosómico Dominante/genética , Riñón Poliquístico Autosómico Dominante/patología , Ultrasonografía/métodosRESUMEN
We report the case of a young male who presented at the age of 34 years with intracranial hemorrhage due to moyamoya disease. He was later diagnosed with hypogonadism and hypopituitarism. Chromosomal evaluation revealed a normal karyotype. The results of further neuroradiological studies led to the diagnosis of empty sella syndrome.