1/11. Multifocal eosinophilic granuloma ("hand-Schuller-Christian disease"). Report illustrating H-S-C chronicity and diagnostic challenge.We have described an unusual case of multifocal eosinophilic granuloma ("hand-Schueller-Christian disease") in a middle-aged woman. The case underscores the varied and subtle nature of the disease presentation and the extent to which many organ systems may become involved. Unusual features of her case include atypical bone roentgenograms, cutaneous anergy, panhypopituitarism and evidence of diffuse central nervous system dysfunction. Several features of multifocal eosinophilic granuloma present in the older age group are different from those presenting in children and young adults. Finally, multifocal eosinophilic granuloma may present all the clinical and laboratory features of a progressive, chronic disease.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/11. wolfram syndrome.The wolfram syndrome is a rare dysmorphogenetic disease of autosomic recessive hereditary nature. The pathogenesis of the disease is still not well known. It is characterised by the presence of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Other anomalies, such as renal outflow tracts and multiple neurological disorders may develop later. In our case report the diabetes mellitus appeared at the age of 4; the hearing loss and renal disturbances at the age of 11; the optic atrophy at the age of 16. No signs of ataxia, diabetes insipidus and neurologic anomalies were found. The diagnosis of wolfram syndrome is not always easy in the first stages of the disease. The suspect may come from the presence of a juvenile diabetes mellitus asssociated with optic atrophy. For the diagnosis a valid clue can be given from the results of some clinical tests such as the positivity of the visual evoked potentials and the retinogram reliefs and the exclusion of the autoimmune origin of the diabetes mellitus. Other signs such as the progressive sensorineural hearing loss, the presence of nystagmus and of urodynamic disturbances and renal complications makes the diagnosis of this syndrome easier.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/11. Suprasellar and intrasellar paragangliomas.neoplasms of the sellar region are entities with a large differential diagnosis. Although paraganglionic cells have not been demonstrated in the pituitary or adjacent structures, the existence of sellar region paragangliomas is well-documented. To elucidate, in this area the nature of these unusual tumors is relatively difficult. Clinical history, physical examination, radiographic investigation as well as intraoperative gross observation are the same as those of sellar meningioma or pituitary adenoma. immunohistochemistry, using neuroendocrine markers and electron microscopy are the two definitive diagnostic methods to differentiate among these entities. The clinical management, the possible pathogenesis of the tumor, the importance of immunohistochemistry in making the diagnosis and the clinical outcome of these patients are discussed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/11. Endocrine aspects of pituitary stalk enlargement.Four patients with various endocrine deficiencies of a predominantly hypothalamic nature are described, in whom computed topographic scans demonstrated pituitary stalk enlargement. In one, a disseminated papular skin eruption with regional pleomorphism and spontaneous regression appeared 4 years after the development of the initial symptoms of diabetes insipidus, and led to a diagnosis of xanthoma disseminatum, a rare type of histiocytosis. It is suggested that this patient's endocrine dysfunction is also due to histiocytic involvement of the hypothalamus and/or pituitary stalk. In view of the prolonged lapse of time between the initial endocrine manifestations and the eventual diagnosis, even though no cause is apparent in the other three patients, it is suggested that close follow-up be carried out to rule out such a possibility in patients with this endocrine-radiological entity.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/11. diabetes insipidus associated with dysplastic pancytopenia.This case report describes a 60-year-old man who presented with a three-year history of generalized malaise, decreased libido, polyuria, and polydipsia. He had been previously investigated for pancytopenia, and found to have a hypoplastic bone marrow. A diagnosis of central diabetes insipidus was established; the patient was also found to have a number of other defects in his hypothalamic-pituitary function. Hematologic studies again revealed peripheral pancytopenia associated with a hypoplastic megaloblastic bone marrow. Computed axial and nuclear magnetic resonance tomography failed to establish the nature of the morphologic lesion in the hypothalamus. A possible relationship between the hematologic and endocrine disturbance is discussed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/11. Severe hypernatremia complicating urinary tract obstruction.Severe hypernatremia and hyperosmolar dehydration developed in a patient with partial urinary tract obstruction. The urine was initially hypotonic, and there was no response to exogenous vasopressin. These abnormalities resolved with relief of the urinary tract obstruction and replacement of the water deficit. This case documents lower urinary tract obstruction as a cause of nephrogenic diabetes insipidus and severe hypernatremia and illustrates its reversible nature.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/11. Intracranial teratocarcinoma in a child with anterior sacral and intrasacral meningocele.A very rare combination of two rare entities is reported. The patient had anterior sacral and intrasacral meningoceles, which were repaired at age 3 years, and 7 years later he presented with hypopituitarism due to a suprasellar teratocarcinoma. There has been no evidence of tumor recurrence in the 2.5 years since subtotal excision and radiotherapy (patient was last seen in 1977). Two aspects of the case are reviewed: the unusual nature of the spinal defect and the implications of its association with an intracranial tumor of developmental origin.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/11. monosomy 7, diabetes insipidus and acute myeloid leukemia in childhood.The triad of diabetes insipidus (DI), monosomy 7, and acute myeloid leukemia in a 7-year-old boy is described. This triad has been described in adults but not in children. The DI ran a transient, self-limiting course and required no specific therapy. The pathogenesis of DI remains unknown, and its transient nature may result in this component of the triad going unnoticed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/11. Development of hypercalcemic crisis in a Graves' hyperthyroid patient associated with central diabetes insipidus.A 26-year-old man with Graves' hyperthyroidism associated with central diabetes insipidus (DI), initially showed hypercalcemic crisis. Initially, very low serum levels of intact parathyroid hormone (PTH) and 1,25-dihydroxy vitamin D3 and a moderate rise of serum C-terminal PTH related protein (C-PTHrP) were observed which strongly suggested a humoral hypercalcemia of malignancy due to PTHrP. However, the serum C-PTHrP level later became normal. Mild hyperprolactinemia, no responses of growth hormone (GH) to insulin-induced hypoglycemia despite a normal growth hormone releasing hormone (GRH) test and mild thickening of the pituitary stalk on magnetic resonance imaging were observed. Thus, an autoimmune nature of his central DI is considered; it is noteworthy that the serum C-PTHrP level may be elevated by renal failure in patients with hypercalcemia due to causes other than PTHrP.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
10/11. Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus--a syndrome.Four patients with diabetes mellitus, optic atrophy, and high-frequency neurosensory hearing loss, two of whom also had diabetes insipidus, are described. The frequency of this syndrome among patients with juvenile diabetes appears to be between 1/148 and 1/175. Because of the progressive nature of the disabilities and the autosomal recessive mode of inheritance, careful monitoring of all juvenile diabetic patients for other signs of the syndrome is warranted.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
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