[Congenital amegakaryocytic thrombocytopenia in a 12 year old boy with no signs of pancytopenia: molecular analysis]. / Trombocitopenia congénita amegacariocítica en un niño de 12 años sin pancitopenia acompañante: análisis molecular.

Congenital amegakaryocytic thrombocytopenia is an uncommon disorder characterized by an isolated thrombocytopenia due to ineffective megakaryocytopoiesis at birth and the almost complete absence of megakaryocytes in the bone marrow. Mutations in the gene for the thrompoietin receptor MPL were defined as the molecular cause in congenital amegakaryocytic thrombocytopenia patients, developing into a pancytopenia during the first years of life. A case of congenital amegakaryocytic thrombocytopenia with no signs of pancytopenia at the age of 12 years is presented. Mutations were not found in the MPL gene.

[Eosinophilic gastroenteritis in a patient with Albright's hereditary osteodystrophy]. / Gastroenteritis eosinofílica en un paciente afectado de osteodistrofia hereditaria de Albright.

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.

[Albright hereditary osteodystrophy: identification of a novel mutation in a family]. / Osteodistrofia hereditaria de Albright. Identificación de una mutación original en una familia.

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

[Magnetic resonance in familial central diabetes insipidus: a family study]. / Resonancia magnética en la diabetes insípida familiar central: Estudio de una familia.

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.