RESUMO
Eosinophilic gastroenteritis is an uncommon chronic disease, of unknown cause, characterized by eosinophilic infiltration of the gastrointestinal tract, which is usually associated with peripheral blood eosinophilia. The symptoms of this complex disorder are variable, and frequently include abdominal pain, nausea, diarrhea, protein losing enteropathy and malabsorption. In general, patients can be successfully treated with corticosteroids, but relapses are common. We present the first case of a 6-year-old boy with Albright's hereditary osteodystrophy (Pseudohypoparathyroidism Ia) associated with eosinophilic gastroenteritis. Alternatives to traditional treatment with corticosteroids are discussed.
Assuntos
Eosinófilos/patologia , Displasia Fibrosa Poliostótica/complicações , Gastroenterite/complicações , Gastroenterite/patologia , Criança , Gastroenterite/sangue , Humanos , Masculino , Mucosa/patologia , Pseudo-Hipoparatireoidismo/complicações , Pseudo-Hipoparatireoidismo/diagnósticoRESUMO
Studies to detect mutations in the GNAS1 gene were performed in a male patient with features of Albright hereditary osteodystrophy and resistance of target tissues to parathyroid hormone (Pseudohypoparathyroidism Ia). The same investigations were carried out in the patient's mother who showed somatic features of Albright's hereditary osteodystrophy and brachymetacarpia without resistance to parathyroid hormone (Pseudopseudohypoparathyroidism). A point mutation designated c.794GA (R265H) in exon 10 of GNAS1 was identified in DNA from the patient and his mother. This novel mutation in exon 10 of GNA
Assuntos
Displasia Fibrosa Poliostótica/genética , Mutação , Pré-Escolar , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Humanos , MasculinoAssuntos
Hemangioma Cavernoso/patologia , Neoplasias da Coluna Vertebral/patologia , Coluna Vertebral/patologia , Criança , Hemangioma Cavernoso/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Neoplasias da Coluna Vertebral/cirurgia , Coluna Vertebral/cirurgia , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: To evaluate through MR the presence or absence of the normal hyper-intense signal of the posterior pituitary lobe in four patients diagnosed of familial central diabetes insipidus. PATIENTS AND METHODS: The posterior pituitary lobe was studied by magnetic resonance imaging in four patients, three children and one adult, diagnosed of familiar central diabetes insipidus. RESULTS: In none of the four patients could the normal posterior bright signal be detected. CONCLUSION: The normal hyper-intense MR image of the neurohypophysis is suggested to reflect its function and its absence is frequent in patients diagnosed of familial central diabetes insipidus.