Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032617 (polyuria)
 3,056 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Central nervous system (CNS) sarcoidosis is a crucial disease and has a poor prognosis. A 58-year-old woman had acute development of polydipsia and polyuria. Her pituitary MRI demonstrated a swelling of pituitary gland and hypophyseal stalk. She was diagnosed as central diabetes insipidus (CDI) due to CNS sarcoidosis based on the examinations and pituitary MRI findings as well as a result of cutaneous biopsy. Uveitis and bilateral hilar lymphadenopathy were observed mildly throughout. However, CDI and pituitary MRI findings were getting recovered spontaneously without steroid treatment in a couple of months, suggesting an atypical clinical course of CNS sarcoidosis.
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PMID:Spontaneous remission of diabetes insipidus due to CNS sarcoidosis. 1921 73

We report the case of a 20-year-old woman who presented with sudden onset of polydipsia and polyuria. A diagnosis of diabetes insipidus was confirmed and the MRI showed a pituitary stalk enlargement. The patient was treated with Minirin. Two years later, she developed a panhypopituitarism. The MRI showed an intrasellar mass with an enlargement of the pituitary gland. A biopsy confirmed a germinoma. The patient was treated with radiotherapy with a partial response as only a part of the mass disappeared. This case highlights the importance of the clinical and radiological follow-up of central diabetes insipidus, especially when it is of unknown origin. The differential diagnosis will be reviewed.
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PMID:[Germinoma responsible for central diabetes insipidus]. 1977 17

Takotsubo cardiomyopathy, or transient left ventricular apical ballooning or broken heart syndrome, is characterized by excessive sympathetic stimulation induced acute coronary vasospasm. A 46-year-old female presented with polyuria and polydypsia and was diagnosed with new-onset diabetes mellitus, treated with insulin and intravenous fluids. During the hospital stay, she complained of an episode of left-sided chest pain and had mildly elevated cardiac enzymes. EKG showed new ST-segment elevation in V2, V3 leads without reciprocal changes. Her coronary angiogram showed no significant coronary artery stenosis, but severe systolic dysfunction and akinesis of the mid-anterior, anteroapical, mid-inferior and inferoapical segments. Further workup was negative except for plasma metanephrine being elevated. MRI of the abdomen showed a right adrenal mass consistent with pheochromocytoma. Surgical resection of the adrenal mass showed evidence of pheochromocytoma and the patient's symptoms were resolved.
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PMID:Initial presentation of pheochromocytoma with Takotsubo cardiomyopathy: a brief review of literature. 1979 77

A 3-year 5-month-old boy was seen for second opinion regarding polydipsia and polyuria. Previously, a diagnosis of primary polydipsia was made after normal urine concentration after overnight water deprivation testing. The boy's father, paternal grandfather, and paternal aunt had diabetes insipidus treated with desmopressin acetate. Based on this young boy's symptoms, ability to concentrate urine after informal overnight water deprivation, and family history of diabetes insipidus, we performed AVP gene mutation testing. Analysis of the AVP gene revealed a novel mutation G54E that changes a normal glycine to glutamic acid, caused by a guanine to adenine change at nucleotide g.1537 (exon 2) of the AVP gene. Commonly, patients with familial neurohypophyseal diabetes insipidus (FNHDI) present within the first 6 years of life with progressively worsening polyuria and compensatory polydipsia. Since these patients have progressive loss of arginine vasopressin (AVP), they may initially respond normally to water deprivation testing and have normal pituitary findings on brain MRI. Genetic testing may be helpful in these patients, as well as preemptively diagnosing those with a mutation, thereby avoiding unnecessary surveillance of those unaffected.
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PMID:Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus. 2040 97

Primary granulomatous hypophysitis (PGH) is a rarely occurred inflammatory disease of unknown etiology. We retrospective review a case of PGH treated by microsurgical transsphenoidal approach and review the appropriately documented cases of PGH collected from the literatures. The patient was a 56-year-old female who presented with 4 months history of headache and 2 months history of polyuria and polydipsia. Clinic examination did not find remarkable neurological signs, except endocrinological abnormalities of secondary hypothyroidism and hypocorticalism. MRI revealed a symmetric sellar mass, which was isointensity as gray matter on T1-weighted and T2-weighted images with heterogeneous enhancement. The mass was partially resected via transsphenoidal approach. Histological assessment revealed a non-necrotizing granulomatous lesion with chronic inflammation. Although the resection was limited, repeatedly MRI scanning in 3 months following surgery revealed almost normal pituitary soft tissue without evidence of the lesion. Searching in PubMed, we found 21 papers published from 1985 to 2009 and 37 patients with PGH were reported. In order to identify the clinical and radiological presentation, treatment strategy, and prognosis of PGH, we analyzed these 38 cases together. The results indicate that the clinical presentations and radiological signs are helpful for the diagnosis of PGH. The outcome of surgery for PGH is favorable for immediate mass reduction and histological diagnosis, but hormone replacement is required in most cases and long-term follow up is very important.
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PMID:Primary granulomatous hypophysitis: a case report and literature review. 2151 40

Recurrent autoimmune hypophysitis is a rare autoimmune endocrine disease involving lymphocytic infiltration and chronic pituitary inflammation. It is even more rare than primary hypophysitis. The objective of the study was to evaluate the efficacy of glucocorticoid treatment combined with azathioprine for treating three cases of recurrent autoimmune lymphocytic hypophysitis encountered within a two-year period. The clinical features and follow-up data of these cases were analyzed, including results of treatment with glucocorticoids combined with azathioprine. All three patients were female and presented with the following clinical characteristics: case 1 was a 22-year-old with headache and diplopia; case 2 was a 70-year-old with dry mouth, polydipsia, and polyuria; case 3, a 32-year-old, with polydipsia, polyuria and menstrual disorders with headache and dizziness. Regarding recurrence, case 1 recurred 4 months after surgery and again 14 months after discontinuing prednisone; case 2 relapsed 16 months after receiving high-dose methylprednisolone pulse therapy; and case 3 recurred during the period of prednisone dose reduction. The patients were treated with glucocorticoids plus azathioprine, and positive responses were seen in all three cases. Symptoms were relieved, and MRI revealed significant reduction of lesions during follow-up. Pituitary function resumed in cases 1 and 3; permanent hypopituitarism was present in case 2. At last follow-up, MRI showed no further recurrence of disease in any patient. Treatment and responses of these patients with autoimmune hypophysitis suggest that glucocorticoid therapy combined with azothioprine is effective treatment for recurrent autoimmune hypophysitis. Endocrine and radiologic studies are an essential part of follow-up.
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PMID:Recurrent autoimmune hypophysitis successfully treated with glucocorticoids plus azathioprine: a report of three cases. 2166 39

Chondromyxoid fibroma (CMF) is an uncommon tumor that primarily develops in the long bones of young males. It is rarely seen in the skull and involvement of the skull base is rare. We report a patient with CMF arising in the region of the sella turcica. A literature review regarding the clinical and histological features of CMF, as well as recommended modalities of treatment, is presented. A 55-year-old male was admitted with polyuria and headache. A CT scan showed a well-defined expansive lesion with a sclerotic margin measuring approximately 2 cm in diameter in the sellar region. T1-weighted MRI revealed a well-circumscribed, lobulated and strongly enhancing lesion. On the T2-weighted MRI, the lesion showed high heterogeneous signal intensity. Using the trans sphenoidal approach, surgical exploration revealed a well-defined tumor underneath the optic chiasm. The piecemeal tumor removal was considered complete. We conclude that sellar region CMF can cause severe disabilities due to tumor compression. CMF should be taken into consideration in the differential diagnosis of a solitary tumor mass in the sellar area. As much as possible, surgical resection of the tumor is the cornerstone of treatment. Although CMF are generally regarded as benign neoplasms, they may show an infiltrative pattern and may recur; particularly when they are in locations where complete surgical excision may be difficult or impossible.
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PMID:Chondromyxoid fibroma in the sella turcica region. 2177 57

Primary pituitary lymphoma in immunocompetent patients is an exceedingly rare clinical entity. We report the case of a 41-year-old woman with initial polydipsia and polyuria. When laboratory evaluation revealed panhypopituitarism, a pituitary enhanced MRI was performed and was suggestive of a pituitary adenoma. Obstructive hydrocephalus provoked by enlarged sellar mass was also demonstrated during observation, and a shunt procedure following lesion resection was carried out. Histopathological examination and immunophenotyping verified diffuse large B-cell non-Hodgkin's lymphoma. No systemic disease was found on staging of the patient. We will also review the clinical, radiological features and outcomes of 28 cases that have been reported since 1993.
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PMID:Primary pituitary lymphoma in an immunocompetent patient: a rare clinical entity. 2193 28

Erdheim-Chester disease (ECD), first described by Jakob Erdheim and William Chester in 1930, is a rare form of non-Langerhan's cell histiocytosis with unknown aetiology, is charaterized by systemic xanthogranulomatous infiltrative disease. To date, about 350 cases of ECD have been described in the medical literature. The typical ECD diagnostic triad is bone pain, diabetes insipidus and bilateral exophthalmos. A 24 years old man came at our attention for polydipsia with nocturnal and diurnal polyuria, anorexia, febrile episodes (38(o)C), and arthromyalgia especially in the knees. Physical examination showed bilateral periorbital xanthelasma. Blood exams showed increase of plasma osmolarity, haematocrit, sodium and urea and decrease of potassium. Urine exams showed just decreased urine specific gravity, (1.001;normal range: 1.010-1.030) suggestive for central diabetes insipidus (CDI). Brain magnetic resonance with gadolinium enhancement showed the presence of multiple hyperintense lesions expecially in neurohypophysis (swollen and with markedly contrast enhancement). All these data raised the suspision of neurosarcoidosis, so a chest and abdomen contrast enhancement computed tomography was performed, which didn't show abnormalities, making less possible the diagnosis of sarcoidosis. Two weeks later, whole-body (from head to pelvis) plus lower limbs 18-fluorine-labelled 2-deoxy-2-fluoro-D-glucose positron emission tomography/computed tomography ((18)F-FDG PET/CT) was performed. Uptake of (18)F-FDG was observed in the upper portion of the midbrain area (SUV(max) 7.1) and the pituitary gland (SUV(max) 7.3), and diffuse bone marrow uptake of (18)F-FDG in the proximal epiphysis and metaphysis of both humeri and thigh bones (SUV(max) 6.5), shoulder blades, pelvis bones and the L2 vertebral body (SUV(max) 3.9). This (18)F-FDG PET/CT confirmed the presence of brain lesion seen in MRI , the absence of visceral lesions, but also showed the presence of an atypical bone uptake of (18)F-FDG, leading to the suspision of ECD. A technetium-99m-methyl-diphosphonate skeletal scintigraphy ((99m)Tc-MDP) scan showed diffuse uptake of the radiopharmaceutical, in the diaphysis of long bones and in the left portion of the body and the spinous process of L2. Considering the difficulties of an osteomedullary or brain biopsy, biopsy was performed on a right anterior thoracic cutaneous xanthelasma. Histology showed lipid-laden histiocytes (CD1a-, CD68+, S-100 protein -) with small nuclei, Touton giant, lymphocytic infiltrates, eosinophils and fibrosis, ECD gold standard patterns as reported in literature. The patient was discharged with the diagnosis of ECD with central nervous system (CNS) manifestations, and treatment started. The diagnosis can be lead by the most charateristic bone findings of symmetrical osteosclerosis of the long bones, especially the lower limbs (tibia and fibula), involving metaphyses and diaphyses but sparing epiphyses. The typical pattern of osteoscerosis of the long bones reflects increased osteoblastic activity. About half of all ECD patients may experience extraskeletal manifestations, including CNS. Visceral involvement in ECD is not specific, and this enforces the diagnostic value of skeletal imaging findings. Furthermore xanthomas can be found at any location on the skin, especially the eyelids as in our patient. For visceral involvement, CT is most useful, while MRI is more sensitive for CNS lesions. Involvement of CNS may be frequently revealed clinically by diabetes insipidus. Few case reports have shown that (18)F-FDG PET/CT scanning could be useful in assessing the extension of ECD lesions. Both radiography and (99m)Tc-MDP skeletal scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. The typical bone pattern of (18)F-FDG PET/CT scan is specific for ECD and (99m)Tc-MDP skeletal scintigraphy may be performed in patients in whom initial (18)F-FDG PET/CT scans present the possibility of ECD diagnosis. Others reported that (18)F-FDG PET/CT scans had good sensitivity (66.7%) and specificity (92.3%) as compared with MRI of the CNS involvement or lesions. In conclusion, the (18)F-FDG PET/CT scan and the (99m)Tc-MDP scan depicted many of the most relevant lesions of ECD for the initial assessment of ECD in our patient.
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PMID:(18)F-FDG positron emission tomography/computed tomography and (99m)Tc-MDP skeletal scintigraphy in a case of Erdheim-Chester disease. 2208 57

We present a rare case of primary T-cell lymphoblastic lymphoma of the pituitary gland. A 58-year-old woman presented with headaches, right-sided ptosis and cranial nerve III palsy. She subsequently developed polyuria, polydipsia, and hyperglycemia and was found to have hypopituitarism. MRI revealed a large, heterogeneously enhancing intrasellar/suprasellar lesion displacing the optic chiasm and extending into the right cavernous sinus. Radiologically, these findings were thought to represent an invasive pituitary adenoma. Pterional craniotomy was performed with subtotal tumor resection. Histopathological examination revealed a T-cell lymphoblastic lymphoma/leukemia (T-LBL) admixed with pituitary corticotrophic cell hyperplasia. CT scans of the chest, abdomen and pelvis showed no evidence of systemic disease. Analysis of peripheral blood and bone marrow, including flow cytometry, demonstrated no involvement by T-LBL. Follow-up MRI of the spine revealed abnormalities in the distal thoracic spinal cord and conus medullaris, raising suspicions of leptomeningeal dissemination. Only five case reports of T-cell primary pituitary lymphoma (PPL) have been previously described, four of which were associated with hypopituitarism and/or concurrent pituitary adenoma. We present the first report of a T-cell PPL associated with adenohypophyseal hyperplasia and the third documented occurrence of a primary pituitary T-LBL.
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PMID:T-cell lymphoblastic lymphoma/leukemia presenting as a pituitary mass lesion: a case report and review of the literature. 2243 97


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