- A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. [Journal Article]
- BONEBone 2017 Jan 14
- Solute Carrier Family 12 member 1 (SLC12A1) gene encodes the sodium-potassium-chloride co-transporter (NKCC2) at the apical membrane of the thick ascending loop of Henle (TAL). Bartter's syndrome (BS...
Solute Carrier Family 12 member 1 (SLC12A1) gene encodes the sodium-potassium-chloride co-transporter (NKCC2) at the apical membrane of the thick ascending loop of Henle (TAL). Bartter's syndrome (BS) type I is a rare, autosomal recessive, renal tubular disorder associated with mutation of the SLC12A1 gene. Presenting features include: hypokalemic metabolic alkalosis, hypercalciuria and nephrocalcinosis. The many allelic variants reported present with a spectrum of phenotypes, biochemical abnormalities and clinical severities. However, to date, only two reports have described hyperparathyroidism and hypercalcemia in patients with SLC12A1 gene mutations. We describe 4 patients with 4 novel mutation variants in the SLC12A1 gene (c.735C>G, c.1137del, c.2498-2499del, and c.1833delT) presenting with variable degrees of hyperparathyroidism, hypercalcemia, hypokalemic metabolic alkalosis, nephrocalcinosis, and nephrogenic diabetes insipidus. The link between calcium and parathyroid hormone abnormalities in patients with SLC12A1 mutations is unclear; the cases described suggest an association between primary hyperparathyroidism and loss of function mutation of SLC12A1, which may result in an aberrant threshold of the calcium sensing receptor at the level of the kidney.
- [Child Langerhans cell histiocytosis]. [Journal Article]
- PMPresse Med 2017 Jan 10
- Langerhans cell histiocytosis (LCH) is defined by the association of a clinical and radiological involvement and a biopsy of a pathological tissue. Extension: it can affect any organ or system of the...
Langerhans cell histiocytosis (LCH) is defined by the association of a clinical and radiological involvement and a biopsy of a pathological tissue. Extension: it can affect any organ or system of the body but most commonly the bone (80% of cases), the skin (33%) and the pituitary (25%). Other organs are concerned such as liver, spleen, hematopoietic system and the lungs (15% each), lymph nodes (5-10%) and central nervous system (CNS) excluding the pituitary (2-4%). Natural history: the natural history of the disease is very heterogeneous, ranging from auto-regressive lesions to a disease affecting multiple organs with fatal consequences, while some lesions may be responsible for permanent sequels. A multidisciplinary approach: the perception of disease from physicians varies greatly depending on their speciality and experience, as well as the presentation of the disease or the short-term treatment outcomes. But whatever the initial view of the treating physician, a multidisciplinary approach to the LCH is recommended as well as the coordination of the necessary care of this systemic disease and its associated morbidity.
- IgG4-Related Hypophysitis: Case Report and Literature Review. [Review]
- CCureus 2016 Dec 01; 8(12):e907
- IgG4-related hypophysitis is a rare, inflammatory process of the pituitary that mimics more commonly seen pituitary tumors. We report a case of IgG4-related hypophysitis in a 16-year-old female with ...
IgG4-related hypophysitis is a rare, inflammatory process of the pituitary that mimics more commonly seen pituitary tumors. We report a case of IgG4-related hypophysitis in a 16-year-old female with diabetes insipidus who was found to have IgG4-related hypophysitis based on tissue diagnosis. This entity has not been previously described in a pediatric patient. Recognition of certain inflammatory processes of the pituitary may lead to alternative means of diagnosis and medical management without a biopsy.
- Transcranial approach in giant pituitary adenomas: results and outcome in a modern series. [Journal Article]
- JNJ Neurosurg Sci 2017 Jan 12
- CONCLUSIONS: TC approach remains a requirement in giant and invasive PAs non-accessible via TS approach. However, the high morbidity associated with TC approach, including ischemic complications and visual impairment, has to be balanced with patient preoperative symptoms, and benign features of the tumor.
- Adipsic diabetes insipidus in adult patients. [Review]
- PPituitary 2017 Jan 10
- CONCLUSIONS: The management of ADI is challenging and is associated with significant morbidity and mortality. Prognosis is variable; hypothalamic complications lead to early death in some patients, but recent reports highlight the possibility of recovery of thirst.
- The neuroendocrine sequelae of paediatric craniopharyngioma: a 40 year meta-data analysis of 185 cases from three UK centres. [Journal Article]
- EJEur J Endocrinol 2017 Jan 10
- Objectives The management of paediatric craniopharyngiomas was traditionally complete resection (CR), with better reported tumour control compared to partial resection (PR) or limited surgery (LS). T...
Objectives The management of paediatric craniopharyngiomas was traditionally complete resection (CR), with better reported tumour control compared to partial resection (PR) or limited surgery (LS). The subsequent shift towards hypothalamic-sparing, conservative surgery with adjuvant radiotherapy (RT) to any residual tumour, aimed at reducing neuroendocrine morbidity, has not been systematically studied. Hence, we reviewed the sequelae of differing management strategies in paediatric craniopharyngioma across three UK tertiary centres over four decades. Methods Meta-data was retrospectively reviewed over two time periods before [1973-2000 (Group A: n=100)] and after [1998-2011 (Group B: n=85)] the introduction of the conservative strategy at each centre. Results Patients either had CR (A-34%, B-19%), PR (A-48%, B-46%) or LS (A-16%, B-34%), with trends reflecting the change in surgical approach over time. Overall recurrence rates between the two periods did not change (A-38% vs. B-32%). More patients received RT in B than A, but recurrence rates were similar: for A, 28% patients received RT with 9 recurrences (32%); for B, 62% received RT with 14 recurrences (26%). However rates of diabetes insipidus (p=0.04), gonadotrophin deficiency (p<0.001) and panhypopituitarism (p=0.001) were lower in B than A. In contrast, post-operative obesity (BMI SDS>+2.0) (p=0.4), hypothalamic (p=0.1) and visual (p=0.3) morbidity rates were unchanged. Conclusion The shift towards more conservative surgery has reduced the prevalence of hormone deficiencies, including diabetes insipidus, which can be life threatening. However, it has not been associated with reduced hypothalamic and visual morbidities, which remain a significant challenge. More effective targeted therapies are necessary to improve outcomes.
- Diabetes insipidus and the use of desmopressin in hospitalised children. [Journal Article]
- ADArch Dis Child Educ Pract Ed 2017 Jan 10
- Hypofractionated stereotactic radiosurgery for pituitary metastases. [Journal Article]
- JNJ Neurooncol 2017 Jan 09
- Pituitary metastases (PMs) are uncommon, representing only 1% of pituitary lesions. The diagnosis of PMs can be challenging and an optimal management remains to be determined. Here, we present a pilo...
Pituitary metastases (PMs) are uncommon, representing only 1% of pituitary lesions. The diagnosis of PMs can be challenging and an optimal management remains to be determined. Here, we present a pilot clinical study on the efficacy and safety of hypofractionated stereotactic radiosurgery (SRS) with an optimized dosimetric plan in treating PMs. Between June 2013 and December 2014, seven consecutive patients (4 men and 3 women; median age 62 years) had been diagnosed with PMs based on their characteristic clinical and radiological features and subsequently treated using hypofractionated SRS. Primary cancers originated from the lung (n = 5) or the breast (n = 2). All patients presented with diabetes insipidus (DI). Anterior pituitary and visual dysfunction were combined in 4 and 3 patients, respectively. On magnetic resonance imaging (MRI), PMs involved the pituitary stalk and/or the posterior lobe in all patients. SRS of a cumulative marginal dose 31 Gy with dose-volume constraints for the optic apparatus was delivered in 5 daily fractions. As results, tumor was locally controlled in all patients with substantial responses on MRI (including complete remission in 4 patients). The median survival time was 14 months (range, 6-24 months) after SRS. DI and visual dysfunction improved in all patients, although anterior pituitary dysfunction did not recover. No patients experienced any deterioration in visual, pituitary, or other cranial nerve functions. These results suggest a promising role of hypofractionated SRS in treating PMs in terms of both tumor control and functional outcomes.
- Norman M. Dott, master of hypothalamic craniopharyngioma surgery: the decisive mentoring of Harvey Cushing and Percival Bailey at Peter Bent Brigham Hospital. [Journal Article]
- JNJ Neurosurg 2017 Jan 06; :1-14
- Norman McOmish Dott (1897-1973) developed surgical neurology in Edinburgh, Scotland, and was a scholar of worldwide renown. One of Dott's most notable contributions to neurosurgery was his understand...
Norman McOmish Dott (1897-1973) developed surgical neurology in Edinburgh, Scotland, and was a scholar of worldwide renown. One of Dott's most notable contributions to neurosurgery was his understanding of hypothalamic physiology, mostly acquired through the comprehensive study of patients with lesions involving this region of the diencephalon, particularly craniopharyngiomas (CPs). Recognition of symptoms caused by hypothalamic disturbances allowed him to predict the accurate anatomical relationships between CPs and the hypothalamus, despite the rudimentary radiological methods available during the 1930s. His sophisticated knowledge permitted Dott to perform radical removals of CPs originating within the third ventricle floor with acceptable success. Between 1934 and 1937, he operated on 4 CP cases originating in the hypothalamus, achieving a satisfactory postoperative outcome in 3 of the 4 patients. Aware of the strong attachment of hypothalamic CPs to the infundibulo-tuberal area, Dott used a double transbasal and transventricular approach to these lesions, a strategy providing an optimal view and control of the tumor boundaries. The decisive mentorship of several legendary figures of physiology and neurosurgery greatly influenced Dott's surgical evolution. The experimental pituitary gland work he performed with Sir Edward Sharpey-Schäfer at the beginning of his career stirred Dott's curiosity about the issue of hypothalamus-pituitary relationships. As a result, he decided to move to Peter Bent Brigham Hospital (Boston, Massachusetts) in 1923, to train in neurosurgery and neuropathology under the guidance of the leaders in these fields, Harvey Williams Cushing (1869-1939) and Percival Sylvester Bailey (1892-1973). They inspired the young Dott and shared with him their clinical and pathological expertise, in addition to their surgical strategies for best approaching and removing these challenging tumors. In time, Dott would come to surpass his mentors. This paper aims to credit Norman M. Dott for his decisive, modern contributions to hypothalamic CP surgery.
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- Significant improvement in chronic persistent headaches caused by small Rathke cleft cysts after transsphenoidal surgery. [Journal Article]
- WNWorld Neurosurg 2017 Jan 02
- CONCLUSIONS: Severe headaches can develop from small RCCs. In the present study, ETSS was performed on such patients effectively and safely to relieve their headaches.