Unresponsiveness to erythropoietin therapy in a case of Blackfan Diamond anemia.
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Biomedical subjects
Publications and source records attributed to A Fiorillo.
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Multiple angiolipomas presenting acutely in a pregnant woman are described. To the best of our knowledge, onset of this eruption during pregnancy has not been reported previously.
Two children with primary cerebral neuroblastomas are reported and the other cases from the literature are reviewed. Cerebral neuroblastomas are a distinct pathological entity, which differs from other neuroectodermal tumours, although the clinical features are aspecific. The review of the CT findings shows that neuroblastomas appear as large solid tumours in half of the cases and as cystic lesions in the other half; massive contrast enhancement, calcification and cystic hypodensity are typical CT features. The importance of a radical operation and radiotherapy is stressed. The long-term prognosis is better for the cystic forms; also neuroblastomas seem to have a longer survival than other primitive neuroectodermal tumours.
The authors report a case of a 10-year-old girl with early involvement of the thyroid gland by non-Hodgkin's lymphoma, an uncommon site of presentation of childhood lymphomas. In pediatrics, thyroid enlargement is more often caused by lymphocytic thyroiditis. The good response to therapy, in spite of the advanced stage of the disease, is noted.
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Two new sporadic cases of multiple endocrine neoplasia type 2b (MEN 2b) are described. Both patients were diagnosed in pediatric age and presented the characteristic features of the syndrome (facies "sui generis", Marfanoid habitus, mucosal neuromas, history of chronic gastrointestinal disturbances) and developed medullary thyroid carcinoma (MTC). In the former case, metastatic neck adenopathies were the first sign by which the disease was recognized. Antitumor treatment consisted of total thyroidectomy, cervical node dissection, administration of I131 and neck irradiation. This patient is alive and well 20 months from diagnosis, still having high serum levels of thyrocalcitonin (TC). In the latter case, the syndrome was diagnosed on clinical grounds before the development of a MTC. The patient was then strictly followed-up and thyroidectomy performed only when serum TC levels rose to abnormally high values: no tumor spread was documented at that time. She is alive and well 4 years from diagnosis.--Early recognition of MEN 2b syndrome is necessary in order to detect and properly treat MTC.
We present a case of disseminated histiocytosis X with hepatic involvement characterized by sinusoidal dilation. This histological feature regressed in connection with the clinical remission of the disease. The present report suggests that sinusoidal dilation might represent a feature of hepatic involvement in the course of histiocytosis X.
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We report a case of a 19-month-old infant with congenital hepatic fibrosis. The clinical features consisted of portal hypertension with massive gastrointestinal bleeding, recurrent cholangitis, and cystic dysplasia of the kidneys, without impairment of renal function. The dramatic course of the disease required surgical treatment. Congenital hepatic fibrosis with life-threatening gastrointestinal bleeding is extremely rare below three years of age. The purpose of the present report is to stress the need of looking for varices in all cases of congenital hepatic fibrosis, even when occurring in early infancy.
This is the first known report of a case of angioimmunoblastic lymphadenopathy, with dysproteinemia (AILD) in childhood which evolved toward a spontaneous remission. The disease had an acute onset with generalized lymphadenopathy, hepatosplenomegaly, high-grade fever and polyclonal hypergammaglobulinemia. The lymph nodes met all of the histologic criteria required for diagnosis as established by Frizzera et al. It is emphasized that AILD should be taken into consideration in the differential diagnosis of lymphadenopathy in childhood.
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