diabetes insipidus [keywords]
- Biopsy proven pituitary sarcoidosis presenting as a possible adenoma. [JOURNAL ARTICLE]
- J Clin Neurosci 2016 Jul 21.
Sarcoidosis is a well-recognized systemic granulomatous process which involves the central nervous system in 5-15% of patients. One of the more frequent sites of central nervous system involvement is the pituitary and hypothalamic region. Involvement of the sellar region by sarcoidosis is overall an infrequent occurrence, comprising less than 1% of all intrasellar lesions. Patients typically present with an infiltrative lesion on imaging studies and clinically with symptoms related to diabetes insipidus or hyperprolactinemia. This report describes a 38-year-old woman who initially presented with a variety of symptoms including headaches, light sensitivity, nausea and vomiting, acute visual changes, cold intolerance, amenorrhea, decreased libido, fatigue and galactorrhea. She had an elevated serum prolactin level and evidence of oligoclonal bands in the cerebrospinal fluid. Imaging studies discovered a 1.8cm mass involving the pituitary gland and compressing the optic chiasm. The lesion was excised and microscopically was marked by a chronic inflammatory cell infiltrate and scattered nonnecrotizing granulomas. Stains and microbiologic cultures failed to demonstrate microorganisms. There was no evidence of other organ involvement on postoperative imaging. She was treated with prednisone with improvement of symptoms and subsequently required methotrexate to treat left eye pain and blurred vision, 29months after her surgery. Achieving treatment control in patients with pituitary and hypothalamic improvement in sarcoidosis still remains a challenge.
- Pulmonary Langerhans Cell Histiocytosis and Diabetes Insipidus in a Young Smoker. [Journal Article]
- Can Respir J 2016.:3740902.
Langerhans cell histiocytosis is characterized by the abnormal nodular proliferation of histiocytes in various organ systems. Pulmonary involvement seen in young adults is nearly always seen in the context of past or current cigarette smoking. Although it tends to be a single-system disease, extrapulmonary manifestations involving the skin, bone, and hypothalamic-pituitary-axis are possible. High resolution CT (HRCT) of the thorax findings includes centrilobular nodules and cysts that are bizarre in shape, variable in size, and thin-walled. Often the diagnosis can be made based on the appropriate clinical presentation and typical imaging findings. Treatment includes smoking cessation and the potential use of glucocorticoids or cytotoxic agents depending on the severity of disease and multisystem involvement.
- Diffuse Encephalopathy Associated with Isolated Cerebral Langerhans Cell Histiocytosis. [REVIEW, JOURNAL ARTICLE]
- Pediatr Neurol 2016 May 11.
Langerhans cell histiocytosis is a rare disease of the monocyte-macrophage system. Abnormalities of the hypothalamic-pituitary region are common in individuals with central nervous system involvement.This six-year-old boy developed rapidly progressive aggressive behavior, central diabetes insipidus, and repeated complex partial seizures. Magnetic resonance imaging revealed a diffuse leukoencephalopathy-like pattern and numerous infratentorial and supratentorial granulomatous nodules in the brain parenchyma along with infundibular and hypothalamic mass lesions. Stereotactic serial biopsies enabled histopathologic and immunohistochemical diagnosis of Langerhans cell histiocytosis.Similar MRI findings have rarely been described in the literature. These findings represent part of the broad neuroradiological spectrum of Langerhans cell histiocytosis of the nervous system in children.
- PITUITARY STALK THICKENING: THE ROLE OF AN INNOVATIVE MRI IMAGING ANALYSIS WHICH MAY ASSIST IN DETERMINING CLINICAL MANAGEMENT. [JOURNAL ARTICLE]
- Eur J Endocrinol 2016 Jul 14.
Disease processes that affect the pituitary stalk are broad; the diagnosis and management of these lesions remains unclear.The aim was to assess the clinical, biochemical and histopathological characteristics of pituitary stalk lesions and their association with specific MRI features in order to provide diagnostic and prognostic guidance.Retrospective observational study of 36 patients (mean age 37 years, range:4-83) with pituitary stalk thickening evaluated at a university hospital in Oxford, UK, 2007-2015. We reviewed morphology, signal intensity, enhancement and texture appearance at MRI (evaluated with the ImageJ program), along with clinical, biochemical, histopathological and long-term follow-up data.Diagnosis was considered certain for 22 patients: 46% neoplastic, 32% inflammatory and 22% congenital lesions. In the remaining 14 patients, a diagnosis of a non-neoplastic disorder was assumed on the basis of long-term follow-up (mean 41.3 months, range: 12-84). Diabetes insipidus and headache were common features in 47% and 42% at presentation, with secondary hypogonadism the most frequent anterior pituitary defect. Neoplasia was suggested on size criteria or progession with 30% sensitivity. However, textural analysis of MRI scans revealed a significant correlation between the tumour pathology and pituitary stalk heterogeneity in pre- and post-gadolinium T1-weighted images (sensitivity:88.9%, specificity:91.7%).New techniques of MRI imaging analysis may identify clinically significant neoplastic lesions, thus directing future therapy. We propose possible textural heterogeneity criteria of the pituitary stalk on pre- and post-gadolinium T1 images with the aim of differentiating between neoplastic and non-neoplastic lesions with a high degree of accuracy.
- Partial Nephrogenic Diabetes Insipidus in a Burned Patient Receiving Sevoflurane Sedation With an Anaesthetic Conserving Device-A Case Report. [JOURNAL ARTICLE]
- Crit Care Med 2016 Jul 13.
To describe a case of partial nephrogenic diabetes insipidus in a burned patient after prolonged delivery of low inspired concentrations of sevoflurane via an Anesthetic Conserving Device.Clinical observation.Case report.Relevant clinical information.A 34-year-old man was admitted with burns covering 52% of his total body surface area. Mechanical ventilation was provided during sedation with continuous infusions of sufentanil and midazolam. Sedation became increasingly difficult, and in order to limit administration of IV agents, sevoflurane was added to the inspiratory gas flow. This was provided using an Anesthetic Conserving Device and continued for 8 days. The patient rapidly developed polyuria and hypernatremia with an inappropriate decrease in urinary osmolality. Administration of desmopressin resulted in only a modest effect on renal concentrating ability. After cessation of sevoflurane, all variables returned to normal within 5 days. The results of further investigations (cerebral computed tomographic scan, cerebral magnetic resonance imaging, and serum arginine vasopressin concentration) were compatible with a diagnosis of partial nephrogenic diabetes insipidus. The temporal sequence of clinical findings in relation to sevoflurane administration suggests that the sevoflurane was the probable underlying cause.Clinicians should be aware of the possibility of sevoflurane-induced diabetes insipidus not only during general anesthesia but also in the intensive care setting of sedation in critically ill patients. This is especially important in patients, such as those with severe burns, in whom preserved renal concentrating ability is important to ensure compensation for extrarenal fluid losses.
- 201 Transnasal Endoscopic Approach for Pediatric Skull Base Tumors: A Case Series. [Journal Article]
- Neurosurgery 2016 Aug.:179.
Transnasal endoscopic transphenoidal approaches are an essential technique for the resection of skull base tumors in adults. Originally devised and most commonly used to treat pituitary adenomas, they have also been used for a variety of other pathologies. However, in the pediatric population, sellar and suprasellar lesions have historically involved a craniotomy. Transnasal endoscopic transphenoidal techniques in children have only been reported as single case reports and only in regard to purely sellar lesions.We present the first reported series of transnasal endoscopic transphenoidal approaches for pediatric skull base tumors. We performed a retrospective review of pediatric patients at our institution who had undergone endoscopic transphenoidal approaches for either a biopsy or resection of their sellar or suprasellar lesions between 2000 and 2015.Our series included 29 patients with ages ranging between 4 and 17 years. Headache (59%), visual changes (55%), and diabetes insipidus (34%) were the predominant presenting symptoms. Twenty-six patients (90%) noted some improvement in their symptoms postoperatively. The majority of patients had secreting pituitary adenomas (38%) followed by Rathke cleft cysts/craniopharyngiomas (31%) and germinomas (13%). Other pathologies included lymphocytic hypophysitis, mature teratoma, and clival chordoma. Patients primarily underwent gross total resections (56%) with a low rate (27.5%) of reresection. Only 2 cases (7%) necessitated a subsequent craniotomy for tumor regrowth into anatomically challenging areas. Eleven (30%) patients had septal flaps, 17 (46%) had fat grafts, and 13 (45%) had intraoperative placement of a lumbar drain. Two patients (7%) had postoperative cerebrospinal fluid leak. The majority of patients (79%) required hormonal supplementation following resection, with fewer requiring subsequent chemotherapy (24%) and radiation (24%).Transnasal endoscopic transphenoidal approaches are preferable to craniotomy and are safe and effective for accessing sellar, suprasellar and parasellar lesions in children. Further refinement in technology will allow for more widespread use in the pediatric population.
- IgG4-related hypophysitis presenting as diabetes insipidus with tubulo-interstital nephritis and mediastinal lymphadenopathy. [Journal Article]
- Endocrinol Diabetes Metab Case Rep 2016.:160024.
IgG4-related disease (IgG4-RD) is a rare but increasingly recognised condition, emerging as a clinical entity following the observation of the associations of autoimmune pancreatitis. IgG4-RD is characterised by extensive infiltration of IgG4-positive plasma cells into multiple organs and raised serum IgG4 levels. Clinical manifestations of IgG4 disease classically include autoimmune pancreatitis, lacrimal or salivary gland infiltration (formerly known as Mikulicz disease) and retroperitoneal fibrosis. More rarely, IgG4 disease can cause pituitary hypophysitis. Although most frequently described in middle-aged males, the epidemiology and pathogenesis of the disease remain largely undefined. Nevertheless, an understanding of the wide variety of clinical manifestations of this multi-system condition is undeniably important given the often excellent outcomes following treatment. We describe an unusual presentation of IgG4 disease with isolated diabetes insipidus secondary to pituitary hypophysitis. The patient in question subsequently developed chest pain secondary to mediastinal lymphadenopathy and tubulo-interstitial nephritis leading to renal dysfunction. He was successfully treated with oral steroids and had regular follow-up, and remains well at follow-up 2 years later.IgG4 disease, although rare, is increasing in prevalence largely due to increased recognition of its clinical manifestations, including autoimmune pancreatitis, lacrimal or salivary gland infiltration, retroperitoneal fibrosis and, more rarely, lymphocytic hypophysitis presenting as diabetes insipidus.IgG4 disease is highly treatable, and symptoms may show complete resolution with administration of steroids, highlighting the importance of correct and timely diagnosis.Causes of lymphocytic hypophysitis are varied and not distinguishable radiologically. Given the difficulty in biopsying the pituitary, careful attention must be paid to the systemic clinical presentation to provide clues as to the underlying disorder.
- Pediatric symptomatic Rathke cleft cyst compared with cystic craniopharyngioma. [JOURNAL ARTICLE]
- Childs Nerv Syst 2016 Jul 8.
Symptomatic Rathke cleft cysts (RCCs) are rarely detected in neuroradiological screening and are less commonly found in children than in adults. However, when RCCs are observed in children, it is important to carefully distinguish a RCC from a cystic craniopharyngioma (CP) even if surgically treated or conservatively followed up.We conducted a retrospective review of clinical data from 11 patients with symptomatic RCCs whose ages were under 18 years and compared the data with data from 15 age- and sex-matched patients with cystic CP who were treated at our institute.The mean age of the patients with RCCs was 12.2 years (range, 6-18). There were six males and five females. As initial symptoms, nine patients presented with headache, while two each had impaired visual function, diabetes insipidus, and activity loss. The 14 patients with CP suffered from impaired visual function. Magnetic resonance imaging (MRI) mainly showed hyperintensity on T1-weighted images (WIs) and hypointensity on T2-WI in patients with RCC. However, patients with CP had characteristic hyperintensity on T2-WI. The average maximum diameter of the RCCs was 19.0 mm on average (range, 8-33 mm). The RCCs were thus significantly smaller than CPs (34.9 mm; range, 21-54 mm). The RCCs were usually oval or dumbbell-shaped and regular in appearance, while the larger CPs were lobular and irregular. A preoperative endocrinological evaluation revealed insufficiencies in four axes in five patients with RCC. Postoperative endocrinological status improved in three patients, remained unchanged in three, and worsened in one. The gonadotropin axis was damaged in a majority (nine) of the patients with CP preoperatively. Postoperative evaluation revealed deficits in five axes in 14 patients with CP, which is a significantly different trend than observed in patients with RCC. Eight patients underwent surgical procedures (transsphenoidal surgery (TSS) in four, craniotomy in four). Two of these patients experienced a recurrence of the cysts. One of these patients subsequently underwent two craniotomies followed by radiation and other underwent TSS. Among the three conservatively treated patients, two experienced a transient worsening of their symptoms along with cyst enlargement. However, none of the three conservatively treated patients required an operation.When RCCs become symptomatic in children, the most common symptom they lead to is headache. The cysts are commonly small, regular, and oval in shape. Hypointensity of cyst contents on MRI is a characteristic of RCCs, which distinguishes them from CPs. Surgical intervention can be effective and lead to the relief of symptoms without a high rate of complications. However, there seems to be a relatively high recurrence rate following surgery. Thus, if the patient's symptoms remain minor, the surgical treatment option should be used only when prudent, as the patient's symptoms may improve over time.
- Receptor antagonism/agonism can be uncoupled from pharmacoperone activity. [JOURNAL ARTICLE]
- Mol Cell Endocrinol 2016 Jul 4.:176-185.
Pharmacoperones rescue misrouted mutants of the vasopressin receptor type 2 (V2R) and enable them to traffic to the correct biological locus where they function. Previously, a library of nearly 645,000 structures was interrogated with a high throughput screen; pharmacoperones were identified for V2R mutants with a view toward correcting the underlying mutational defects in nephrogenic diabetes insipidus. In the present study, an orthologous assay was used to evaluate hits from the earlier study. We found no consistent relation between antagonism or agonism and pharmacoperone activity. Active pharmacoperones were identified which had minimal antagonistic activity. This increases the therapeutic reach of these drugs, since virtually all pharmacoperone drugs reported to date were selected from peptidomimetic antagonists. Such mixed-activity drugs have a complex pharmacology limiting their therapeutic utility and requiring their removal prior to stimulation of the receptor with agonist.
- Managing adipsic diabetes insipidus following anterior communicating artery aneurysm in a subtropical climate. [Journal Article]
- Clin Case Rep 2016 Jul; 4(7):664-7.
Diabetes insipidus without perception of thirst, as may follow an anterior communicating artery aneurysm, requires prescription of fluid intake as well as desmopressin. The management goal of maintaining a normal serum sodium is rendered more challenging in a humid subtropical environment, where insensible losses are higher.