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Frontiers in Oncology 2024Erdheim-Chester disease (ECD) is a rare disease that belongs to the group of Dendritic and histiocytic neoplasms. Only 2000 cases have been reported worldwide. It can...
INTRODUCTION
Erdheim-Chester disease (ECD) is a rare disease that belongs to the group of Dendritic and histiocytic neoplasms. Only 2000 cases have been reported worldwide. It can present with a wide range of symptoms, making a differential diagnosis especially difficult. The primary and most important diagnostic tool is a biopsy of the affected organ/tissue. Nowadays the analysis of different mutations affecting the BRAF and MAPK pathways makes it possible to use targeted treatments, such as vemurafenib, dabrafenib, or cobimetinib.
OBJECTIVE
Our aim is to present the results of three male patients treated in our hematology department.
RESULTS
Our BRAF mutation-positive patient presented with retroperitoneal tissue proliferation and diabetes insipidus. The initial therapy of choice was dabrafenib. After 3 months of treatment, F-fluoro-deoxyglucose positron emission tomography (FDG-PET)/computed tomography (CT) scans showed regression, and after 2 years of treatment, no disease activity was detected. In our second patient, a recurrent febrile state (not explained by other reasons) and diabetes insipidus suggested the diagnosis. A femoral bone biopsy confirmed BRAF-negative ECD. The first-line therapy was interferon-alpha. After 3 months of treatment, no response was observed on FDG-PET/CT, and treatment with cobimetinib was started. The control FDG-PET/CT imaging was negative. Our third patient was evaluated for dyspnea, and a CT scan showed fibrosis with hilar lymphadenomegaly. A lung biopsy confirmed BRAF-negative ECD. We started treatment with interferon-alpha, but unfortunately, no improvement was observed. Second-line treatment with cobimetinib resulted in a partial metabolic response (PMR) according to control FDG-PET/CT.
CONCLUSIONS
Our results demonstrate that an appropriately chosen treatment can lead to a good therapeutic response, but dose reduction may be necessary due to side effects. With advanced targeted therapeutic treatment options, survival and quality of life are significantly improved.
PubMed: 38549927
DOI: 10.3389/fonc.2024.1305518 -
Archives de Pediatrie : Organe Officiel... Apr 2024Hypopituitarism (or pituitary deficiency) is a rare disease with an estimated prevalence of between 1/16,000 and 1/26,000 individuals, defined by insufficient production...
Hypopituitarism (or pituitary deficiency) is a rare disease with an estimated prevalence of between 1/16,000 and 1/26,000 individuals, defined by insufficient production of one or several anterior pituitary hormones (growth hormone [GH], thyroid-stimulating hormone [TSH], adrenocorticotropic hormone [ACTH], luteinizing hormone [LH], follicle-stimulating hormone [FSH], prolactin), in association or not with diabetes insipidus (antidiuretic hormone [ADH] deficiency). While in adults hypopituitarism is mostly an acquired disease (tumors, irradiation), in children it is most often a congenital condition, due to abnormal pituitary development. Clinical symptoms vary considerably from isolated to combined deficiencies and between syndromic and non-syndromic forms. Early signs are non-specific but should not be overlooked. Diagnosis is based on a combination of clinical, laboratory (testing of all hormonal axes), imaging (brain magnetic resonance imaging [MRI] with thin slices centered on the hypothalamic-pituitary region), and genetic (next-generation sequencing of genes involved in pituitary development, array-based comparative genomic hybridization, and/or genomic analysis) findings. Early brain MRI is crucial in neonates or in cases of severe hormone deficiency for differential diagnosis and to inform syndrome workup. This article presents recommendations for hormone replacement therapy for each of the respective deficient axes. Lifelong follow-up with an endocrinologist is required, including in adulthood, with multidisciplinary management for patients with syndromic forms or comorbidities. Treatment objectives include alleviating symptoms, preventing comorbidities and acute complications, and optimal social and educational integration.
Topics: Adult; Child; Infant, Newborn; Humans; Comparative Genomic Hybridization; Hypopituitarism; Pituitary Gland; Human Growth Hormone; Adrenocorticotropic Hormone
PubMed: 38538470
DOI: 10.1016/j.arcped.2024.01.003 -
The Journal of International Medical... Mar 2024Central diabetes insipidus (CDI) typically manifests as a polyuria-polydipsia syndrome, in which normonatremia is generally maintained through the polydipsia. A...
Central diabetes insipidus (CDI) typically manifests as a polyuria-polydipsia syndrome, in which normonatremia is generally maintained through the polydipsia. A 53-year-old woman presented with diabetic ketosis and hyperosmolar hyperglycemic syndrome. Her medical history included herpes meningoencephalitis, which was associated with confusion and amnesia. On physical examination, she was apyretic, confused, and had signs of extracellular dehydration. Her capillary glucose concentration was high and her urine was positive for ketones. Laboratory investigations revealed severe hyperglycemia, hypernatremia (plasma hyperosmolarity of 393.6 mOsm/L), and mild acute renal failure. In addition, she had a paucisymptomatic COVID-19 infection. Intravenous rehydration with isotonic saline solution and insulin therapy were effective at controlling the ketosis and ameliorating the hyperglycemia, but failed to normalize the hypernatremia and hyperosmolarity. She was not thirsty and had a urine output of 1 L/day, with urinary hypotonicity. Desmopressin administration reduced the hypernatremia and hyperosmolarity to within their normal ranges, and the patient's urinary osmolarity increased to 743 mOsm/L. Therefore, adipsic CDI was diagnosed. Endocrine investigations revealed isolated central hypothyroidism. The results of pituitary magnetic resonance imaging were normal. Thus, patients with impaired thirst may have an atypical presentation of CDI. In addition, the diagnosis of adipsic CDI is particularly challenging.
Topics: Humans; Female; Middle Aged; Diabetes Insipidus, Neurogenic; Hypernatremia; COVID-19; Diabetes Insipidus; Hyperglycemia; Polydipsia; Meningoencephalitis; Diabetes Mellitus
PubMed: 38502003
DOI: 10.1177/03000605241235747 -
Turkish Neurosurgery 2024To share the surgical outcomes of 31 patients who underwent endoscopic endonasal transsphenoidal surgery (EETS) at a single center.
AIM
To share the surgical outcomes of 31 patients who underwent endoscopic endonasal transsphenoidal surgery (EETS) at a single center.
MATERIAL AND METHODS
This retrospective analysis of 31 craniopharyngioma cases (2013-2022) with a minimum 6-month follow-up included demographic data, preoperative findings, postoperative resection volumes, recurrence rates, pathological diagnoses, and complications.
RESULTS
Herein, 34 EETS surgeries were performed on 31 patients (12 males, 19 females). The presenting symptoms included visual loss (58%), hypopituitarism (54.8%), and diabetes insipidus (25.8%). Gross total resection was achieved in 87% of the patients, with 64.5% total and 22.5% near-total resection. Total resection prevented recurrences, contrasting with 75% recurrence in the subtotal resection patients (p=0.000). The primary patients showed 73.1% total resection, while only 20% of the recurrent patients achieved it (p=0.049). When comparing the first 16 cases with the last 15 cases in terms of surgical experience, the rates of resection (p=0.040) and recurrence-free survival (p=0.020) in the last 15 cases were statistically significant. Patients with preoperative visual loss demonstrated 94.4% improvement or stability postoperatively. Postoperative complications included hypopituitarism (71.4%), permanent diabetes insipidus (60.8%), worsening vision (6.5%), cerebrospinal fluid leakage (9.7%), meningitis (6.5%), and a 3.2% perioperative mortality rate.
CONCLUSION
This study underscores the role of surgical resection in craniopharyngiomas, emphasizing the impact of surgical experience on recurrence-free survival. Primary surgery, with minimal complications and maximal resection, is crucial in managing recurrence challenges. Endoscopic endonasal transsphenoidal surgery, particularly in experienced centers, offers advantages such as panoramic vision and access to the third ventricle base, facilitating total and near-total resection and extending recurrence-free survival.
Topics: Male; Female; Humans; Craniopharyngioma; Retrospective Studies; Treatment Outcome; Pituitary Neoplasms; Postoperative Complications; Hypopituitarism; Diabetes Insipidus; Vision Disorders
PubMed: 38497187
DOI: 10.5137/1019-5149.JTN.46067-23.1 -
Neural Regeneration Research Oct 2024JOURNAL/nrgr/04.03/01300535-202410000-00026/figure1/v/2024-02-06T055622Z/r/image-tiff Previous studies have shown that growth hormone can regulate hypothalamic energy...
JOURNAL/nrgr/04.03/01300535-202410000-00026/figure1/v/2024-02-06T055622Z/r/image-tiff Previous studies have shown that growth hormone can regulate hypothalamic energy metabolism, stress, and hormone release. Therefore, growth hormone has great potential for treating hypothalamic injury. In this study, we established a specific hypothalamic axon injury model by inducing hypothalamic pituitary stalk electric lesions in male mice. We then treated mice by intraperitoneal administration of growth hormone. Our results showed that growth hormone increased the expression of insulin-like growth factor 1 and its receptors, and promoted the survival of hypothalamic neurons, axonal regeneration, and vascular reconstruction from the median eminence through the posterior pituitary. Altogether, this alleviated hypothalamic injury-caused central diabetes insipidus and anxiety. These results suggest that growth hormone can promote axonal reconstruction after hypothalamic injury by regulating the growth hormone-insulin-like growth factor 1 axis.
PubMed: 38488559
DOI: 10.4103/1673-5374.389358 -
Frontiers in Surgery 2024To evaluate the cumulative summation (CUSUM) analysis of the learning curve for Endoscopic Endonasal Transsphenoidal resection of craniopharyngioma (EETC).
BACKGROUND
To evaluate the cumulative summation (CUSUM) analysis of the learning curve for Endoscopic Endonasal Transsphenoidal resection of craniopharyngioma (EETC).
METHODS
Retrospectively analyzed the clinical data of 113 patients who underwent EETC by the same neurosurgery team of the first affiliated Hospital of Nanchang University from June 2012 to November 2020. The learning curve was created by the CUSUM method and analyzed, which was divided into two groups: the learning stage and stable stage based on the learning curve trend. The median operation time and minimum surgical case number was calculated and the operation time and postoperative complications were compared between the two groups.
RESULTS
The median operation time was 318 min. The best fitting curve equation was = 227.72 + 49.06 + 0.14- 0.05, = 0.949, ( < 0.001). The minimum number of surgical cases was 65. Between the two groups, the operation time decreased from 360.8 ± 106.4 min in the learning group to 281.6 ± 69.9 min in the stable group ( < 0.05). The incidence of postoperative complications (intracranial infection, cerebrospinal fluid rhinorrhea, and diabetes insipidus) was significantly reduced ( < 0.05).
CONCLUSION
The CUSUM learning curve of craniopharyngioma resection via endoscope endonasal transsphenoidal approach could better describe the learning process for a neurosurgeon. The frequency of surgery could be a good factor for strengthening the learning effect and help to shorten the learning time. After 65 cases of EETC, the surgical skills can reach a stable stage, the operation time is obviously shortened, and the postoperative complications are significantly reduced.
PubMed: 38481609
DOI: 10.3389/fsurg.2024.1146957 -
Journal of Neurosciences in Rural... 2024Endoscopic endonasal approach (EEA) is commonly used for resection of craniopharyngioma (CP). Treatment outcomes of EEA for CP were related to numerous factors; however,...
OBJECTIVES
Endoscopic endonasal approach (EEA) is commonly used for resection of craniopharyngioma (CP). Treatment outcomes of EEA for CP were related to numerous factors; however, they have been evaluated in few studies. The objective of this study is to investigate factors associated with the outcomes of CP following this operation.
MATERIALS AND METHODS
The records of patients with CP, who underwent EEA at our institution from January 2014 to June 2022, were retrospectively reviewed. Surgical outcomes, including the extent of resection, visual recovery, and endocrinological outcomes, were reported. Clinical and radiographic factors were analyzed for their associations with treatment outcomes using logistic regression analyzes.
RESULTS
This study cohort consisted of 28 patients with CP. Gross total resection (GTR) was achieved in 12 patients (43%). Post-operative visual status improved, stabilized, and deteriorated in 89%, 6%, and 6% of the patients, respectively. There were no patients recovered from pre-operative pituitary dysfunctions, while post-operative hypoadrenalism, hypothyroidism, and hypogonadism were found in 9 (36%), 11 (42%), and 4 (22%) patients, respectively. Post-operative permanent diabetic insipidus was found in 13 patients (50%). Greater suprasellar extension of the tumor was associated with a lower rate of GTR ( = 0.011). Diabetes mellitus (DM) was associated with poor visual recovery ( = 0.022). Larger tumor size and Puget grade 2 were associated with postoperative hypoadrenalism ( = 0.01 and 0.023, respectively). In addition, Puget grade 2 was associated with post-operative hypothyroidism ( = 0.017).
CONCLUSION
For EEA in CP, the extent of resection could be determined by suprasellar extension of the tumor. DM was a poor predicting factor for visual recovery, while larger tumors and Puget grade 2 had a higher risk of post-operative hypopituitarism.
PubMed: 38476426
DOI: 10.25259/JNRP_364_2023 -
Surgical Neurology International 2024Non-functioning pituitary adenomas (NFPAs) are well-differentiated benign tumors originating from the adenohypophyseal cells of the pituitary gland. They present with... (Review)
Review
Comparing redo surgery and stereotactic radiosurgery for recurrent, residual, and/or tumors showing progression in nonfunctioning pituitary adenomas: A systematic review and meta-analysis.
BACKGROUND
Non-functioning pituitary adenomas (NFPAs) are well-differentiated benign tumors originating from the adenohypophyseal cells of the pituitary gland. They present with headaches, visual disorders, or cranial nerve deficits. NFPAs can recur, progress, or present as residual tumors. We, therefore, conducted this review to compare the effects of both revision surgery and stereotactic surgery on tumor size, visual status, endocrine status, and complications.
METHODS
A systematic review of published literature on recurrent, residual, or progressing NFPAs that underwent redo surgery or stereotactic radiosurgery from the inception till June 2020 was conducted as per Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Thirteen records (1209 patients) were included, and risk ratio (RR) and 95% confidence intervals (CIs) estimated from each study were pooled using a random-effects meta-analysis model.
RESULTS
Redo surgery was the preferred intervention in patients presenting with larger tumor sizes and was more effective in reducing the tumor size as compared to stereotactic radiosurgery (SRS) (risk ratio [RR] 56.14; 95% CI, 16.45-191.58). There was more visual loss with revision surgery as compared to SRS (risk ratio [RR] 0.08; 95% CI, 0.03-0.20). However, SRS was associated with fewer complications, such as new diabetes insipidus, as compared to the redo surgery (risk ratio [RR] 0.01; 95% CI 0.01-0.03).
CONCLUSION
Redo surgery is the superior choice in the treatment of recurrent/residual or progressing NFPAs if the tumor size is large and an immediate reduction in tumor burden through debulking is warranted. However, redo surgery is associated with a higher risk of visual loss, new endocrinopathies, and other complications, in contrast to SRS.
PubMed: 38468659
DOI: 10.25259/SNI_907_2023 -
Surgical Neurology International 2024Although rare, cases of hypophysitis resembling a pituitary abscess (PA) have been reported. Differential diagnosis between hypophysitis and PA is crucial as the two...
BACKGROUND
Although rare, cases of hypophysitis resembling a pituitary abscess (PA) have been reported. Differential diagnosis between hypophysitis and PA is crucial as the two diseases require different treatments.
CASE DESCRIPTION
A 38-year-old woman with headaches underwent head magnetic resonance imaging (MRI), which revealed an 11-mm mass lesion in the sella turcica. Due to breastfeeding, contrast-enhanced MRI was avoided. Pituitary adenomas and Rathke's cleft cyst (RCC) were suspected, and she was initially treated conservatively. Five months later, she acquired syndrome coronavirus two infections, and while the fever subsided with acetaminophen, the headache persisted. One month later, the headache worsened, followed by fever and diabetes insipidus. MRI revealed a pituitary cystic mass with ring-shaped contrast enhancement on T1-weighted MRI and increased signal intensity on diffusion-weighted imaging (DWI). PA was suspected, and emergency endoscopic transsphenoidal surgery was performed. The microbiological examination of the yellowish-brown content drained from the cystic mass was negative. Microscopically, the cystic lesion was covered with ciliated columnar epithelium and stratified squamous epithelium, with a dense inflammatory cell infiltrate consisting mainly of lymphocytes and plasma cells observed around the cyst. This supported the diagnosis of secondary hypophysitis associated with RCC without PA.
CONCLUSION
We report a case of hypophysitis secondary to RCC resembling PA with ring-shaped contrast enhancement on MRI and increased signal intensity on DWI. This case emphasizes the need for cautious diagnosis of secondary hypophysitis due to RCC in individuals with MRIs and clinical manifestations resembling an abscess.
PubMed: 38468645
DOI: 10.25259/SNI_947_2023 -
Cureus Feb 2024Hemispherectomy is a neurosurgical procedure that is frequently performed in pediatric patients diagnosed with Rasmussen's encephalitis. Postoperative complications...
Hemispherectomy is a neurosurgical procedure that is frequently performed in pediatric patients diagnosed with Rasmussen's encephalitis. Postoperative complications include immediate complications such as hydrocephalus and hemorrhage and behavioral complications such as language impairments and contralateral weakness. However, there are limited studies or case reports that address the potential endocrinopathies associated with this and other pediatric epileptic surgeries. This case report describes the endocrinopathies following an anatomical hemispherectomy procedure. A four-year-old African-American female had a right anatomical hemispherectomy for the treatment of Rasmussen's encephalitis in 2020. The postoperative course was immediately complicated by central diabetes insipidus which was stabilized with desmopressin. The patient's labs in 2021 were consistent with central precocious puberty with elevated luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Additionally, the patient was found to have secondary adrenal insufficiency in which she failed a low-dose adrenocorticotropic hormone (ACTH) stimulation test. Oral hydrocortisone therapy was initiated for secondary adrenal insufficiency in addition to initiating leuprolide injections for central precocious puberty. Furthermore, at the age of seven years, the patient had her first menarche. This case report emphasizes the need for closer and long-term surveillance for endocrine issues in postepileptic surgical pediatric patients as well as a surveillance plan for the development of other potential endocrine abnormalities throughout the patient's life.
PubMed: 38465024
DOI: 10.7759/cureus.53894