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Endocrinology, Diabetes & Metabolism... Jan 2024Functioning gonadotroph adenomas with clinical manifestations are extremely rare and the majority of these are FSH-secreting macroadenomas. Clinical symptoms are due to...
SUMMARY
Functioning gonadotroph adenomas with clinical manifestations are extremely rare and the majority of these are FSH-secreting macroadenomas. Clinical symptoms are due to excess gonadotrophins and sex hormones, and these may be present for a long time before the diagnosis of pituitary adenoma is made. We present the case of a 37-year-old Caucasian male with clinical manifestations of an FSH-secreting pituitary macroadenoma. He had sexual dysfunction for a year followed by bilateral testicular pain and enlargement which was initially treated as suspected recurrent epididymitis, but his symptoms did not resolve. He presented a year later with headaches and bilateral superior temporal visual field defects. Brain imaging confirmed a pituitary macroadenoma with optic chiasm compression. Pituitary profile demonstrated an unusually high FSH with high normal LH and normal testosterone level. The patient successfully underwent transsphenoidal hypophysectomy and histology confirmed gonadotroph differentiation and immunoreactivity predominantly with FSH. Gonadotrophin levels and testosterone dropped significantly after surgery, and he was started on testosterone replacement. MR imaging, 2 years post surgery, showed no recurrence of pituitary adenoma. In conclusion, testicular enlargement and hypogonadal symptoms associated with low testosterone levels are recognised features in FSH-secreting pituitary adenomas. Our patient had hypogonadal symptoms but consistently high normal testosterone levels prior to surgery. The reason for low libido despite high testosterone is unclear. Our case highlights the need to suspect such rare underlying pituitary pathology when dealing with unusual combinations of hypogonadal symptoms, testicular enlargement with low or normal testosterone levels.
LEARNING POINTS
Functioning pituitary adenomas that secrete excess follicle-stimulating hormone (FSH) are very rare and often present with symptoms related to pituitary mass effect. Testicular enlargement alongside sexual dysfunction are commonly reported symptoms amongst male patients. Pituitary profile results demonstrate a raised FSH level with either a low, normal, or even high testosterone level which may not always correlate to clinical symptoms. Pituitary pathology should be considered in males presenting with unusual combinations of testicular enlargement and hypogonadal symptoms even with normal testosterone levels.
PubMed: 38520752
DOI: 10.1530/EDM-23-0143 -
Clinical Case Reports Mar 2024Primary GBM of the optic nerve and chiasma should be included in the differential diagnosis of progressive lesions despite initial treatment; clinicians should avoid...
KEY CLINICAL MESSAGE
Primary GBM of the optic nerve and chiasma should be included in the differential diagnosis of progressive lesions despite initial treatment; clinicians should avoid delay in confirming the histology to initiate proper treatment and improve prognosis.
ABSTRACT
Primary GBM of the optic nerve or chiasma is very rare. The characteristics of this condition have not been well-described, which poses difficulties in establishing the correct diagnosis, affecting the treatment and the prognosis. We present a case of GBM of the optic chiasma diagnosed through an open biopsy at our centre. Following the PRISMA statement, we also conducted a systematic review after protocol registration in PROSPERO (CRD42021285855). We searched Medline and Embase through Ovid from inception until December 31, 2021. Two reviewers independently screened the studies. Studies were eligible for inclusion if they reported cases of primary GBM confined to the optic nerve or chiasma as the initial radiological diagnosis. A 77-year-old female was referred for progressive visual loss lasting 8 weeks. MRI revealed a suspected lesion in the left chiasma. The patient's vision deteriorated further despite initially diagnosing an inflammatory process and empirical treatment with corticosteroids. Subsequently, the patient underwent an open biopsy and surgical debulking. Histology, including epigenetic analysis, confirmed GBM grade IV. Radiochemotherapy was administered. The patient died 19 months after surgery. We identified 45 similar cases (22 female) reported in 35 studies between 1949 and 2020. The mean age of the cases was 61 (SD = 14.6). Most cases were misdiagnosed and mistreated accordingly, so there was a median delay of 8 weeks (IQR: 5-14 weeks) in obtaining histological confirmation of the diagnosis, delaying the initiation of appropriate treatment. Five cases became no treatment since the patients died shortly after the delayed histologic diagnosis. The Kaplan-Meier estimate indicated that most patients died within 20 months of presentation, with a 1-year survival rate of 50%, and untreated cases had very low survival rates compared to treated cases. Primary GBM of the optic nerve and chiasma is a rare condition primarily affecting adults. The rarity of this condition contributes to initial misdiagnosis, mistreatment, and delays in confirming the histology and initiating appropriate treatment. The prognosis remains poor, but treatment, including surgery and radiochemotherapy, improves survival.
PubMed: 38515994
DOI: 10.1002/ccr3.8636 -
Acta Neurochirurgica Mar 2024Optimal initial exposure through an extended endoscopic endonasal approach (EEA) for suprasellar craniopharyngiomas ensures safe and unrestricted surgical access while...
Customized ventral bony and dural opening in the transplanum/transtuberculum and transclival variants of extended endoscopic endonasal approach to suprasellar craniopharyngiomas: an approach-based stepwise cadaveric dissection and clinical applicability.
BACKGROUND
Optimal initial exposure through an extended endoscopic endonasal approach (EEA) for suprasellar craniopharyngiomas ensures safe and unrestricted surgical access while avoiding overexposure, which may prolong the procedure and increase neurovascular adverse events.
METHOD
Here, the authors outline the surgical nuances of a customized bony and dural opening through the transplanum/transtuberculum and transclival variants of the extended EEA to suprasellar craniopharyngiomas based on the tumor-pituitary stalk relationship. A stepwise cadaveric dissection and intraoperative photographs relevant to the approaches are also provided.
CONCLUSION
Safe maximal resection of suprasellar craniopharyngiomas through extended EEAs can be feasibly and safely achieved by implementing of tailored ventral exposure.
Topics: Humans; Craniopharyngioma; Nose; Pituitary Gland; Pituitary Neoplasms; Cadaver; Neuroendoscopy
PubMed: 38514521
DOI: 10.1007/s00701-024-06015-z -
Annals of Palliative Medicine Mar 2024Because of improved survival of cancer patients, more patients irradiated for brain metastases develop intracerebral recurrences requiring subsequent courses of...
Because of improved survival of cancer patients, more patients irradiated for brain metastases develop intracerebral recurrences requiring subsequent courses of radiotherapy. Five studies focused on reirradiation with whole-brain radiation therapy (WBRT) after initial WBRT for brain metastases. Following the second WBRT course, improvement of clinical symptoms was found in 31-68% of patients. Rates of neurotoxicity, such as encephalopathy or cognitive decline, were reported in two studies (1.4% and 32%). In another study, severe or unexpected adverse events were not observed. Survival following the second WBRT course was generally poor, with median survival times of 2.9-4.1 months. The survival prognosis of patients receiving two courses of WBRT can be estimated by a scoring tool considering five prognostic factors. Three studies investigated reirradiation with single-fraction stereotactic radiosurgery (SF-SRS) following primary WBRT. One-year local control rates were 74-91%, and median survival times ranged between 7.8 and 14 months. Rates of radiation necrosis (RN) after reirradiation were 0-6%. Seven studies were considered that investigated re-treatment with SF-SRS or fractionated stereotactic radiation therapy (FSRT) following initial SF-SRS or FSRT. One-year local control rates were 60-88%, and the median survival times ranged between 8.3 and 25 months. During follow-up after reirradiation, rates of overall (asymptomatic or symptomatic) RN ranged between 12.5% and 30.4%. Symptomatic RN occurred in 4.3% to 23.9% of cases (patients or lesions). The risk of RN associated with symptoms and/or requiring surgery or corticosteroids appears lower after reirradiation with FSRT when compared to SF-SRS. Other potential risk factors of RN include the volume of overlap of normal tissue receiving 12 Gy at the first course and 18 Gy at the second course of SF-SRS, maximum doses ≥40 Gy of the first or the second SF-SRS courses, V12 Gy >9 cm3 of the second course, initial treatment with SF-SRS, volume of normal brain receiving 5 Gy during reirradiation with FSRT, and systemic treatment. Cumulative EQD2 ≤100-120 Gy2 to brain, <100 Gy2 to brainstem, and <75 Gy2 to chiasm and optic nerves may be considered safe. Since most studies were retrospective in nature, prospective trials are required to better define safety and efficacy of reirradiation for recurrent or progressive brain metastases.
PubMed: 38509654
DOI: 10.21037/apm-23-593 -
Ophthalmology and Therapy May 2024This is a unique case report in medical literature for its detailing of diagnostics of an uncommon presentation of a rapid unexplained bilateral vision loss of a...
INTRODUCTION
This is a unique case report in medical literature for its detailing of diagnostics of an uncommon presentation of a rapid unexplained bilateral vision loss of a 73-year-old male diabetic patient. This report highlights the crucial role of advanced molecular diagnostics in difficult neurological cases and also elucidates the difficulties involved in diagnosing optic nerve glioblastoma, an exceptionally rare and aggressive tumour.
MAIN CONCERNS AND CLINICAL FINDINGS OF THE PATIENT
Slow and progressive loss of vision over 2 months, ultimately developing almost complete visual impairment in both eyes and a defect of right eye field of vision conclusively highlighted that the likely etiology was neuro-ophthalmic. Initially, the conditions were suspected to be an extended spectrum of diabetic eye disease complications but further deterioration was a hint towards something more substantive.
PRIMARY DIAGNOSES, INTERVENTIONS AND OUTCOMES
This entailed in-depth diagnosis processes that included an MRI and the analysis of cerebrospinal fluid. The important discovery was through stereotactic biopsies of the optic nerve revealing a high-grade glial neoplasm. Next generation sequencing confirmed the pathology as IDH-wildtype glioblastoma. Despite management, his vision continued to deteriorate. Hence, an aggressive clinical course was followed.
CONCLUSION
This case highlights the important learning need in considering glioblastoma of the optic chiasm as part of the differential diagnosis of rapid vision loss, which may present as multifocal brain lesions, especially in cases of rapid loss of vision where initial workup is negative. Quite a useful lesson that can be drawn from this case relates to the diagnostic process with advanced molecular profiling, more attention given to clinical suspicion and cutting-edge diagnostic tools applied in atypical presentation of neurological conditions.
PubMed: 38498279
DOI: 10.1007/s40123-024-00922-1 -
Neurosurgery May 2024
Topics: Humans; Optic Chiasm; Visual Fields; Vision Disorders; Skull
PubMed: 38497617
DOI: 10.1227/neu.0000000000002909 -
Hormone Research in Paediatrics Mar 2024Paediatric brain tumours in the sellar-suprasellar region (SSR) are often associated with arginine vasopressin peptide deficiency (AVPD), either at diagnosis caused by...
INTRODUCTION
Paediatric brain tumours in the sellar-suprasellar region (SSR) are often associated with arginine vasopressin peptide deficiency (AVPD), either at diagnosis caused by the tumour itself or during follow-up as consequence of treatments. The purpose of this research is to retrospectively describe the neuroradiological characteristics and the timing of AVPD development in a cohort of paediatric patients with craniopharyngioma (CP) or germ cell tumours (GCT).
METHODS
We evaluated brain MRI at tumour diagnosis and at the onset of AVPD, as well as recorded clinical, endocrinological and histopathological data, treatments, and outcome.
RESULTS
Seventy-two patients with AVPD were included: 46 CP (M: F=25:21) and 26 GCT (M: F=18:8). CPs were suprasellar (63%), sellar (4%) or both (33%). GCTs were suprasellar (65%), pineal (24%) or bifocal (11%). No statistically significant differences were noted in tumour size between CP and GCT. Posterior pituitary bright spot absence was reported at diagnosis or at follow-up (as surgery consequence) in all patients with AVPD, indicating that the absence of hyperintensity is a cardinal feature of AVPD. When measurable, pituitary stalk was thickened in most GCT patients (61.5%). At AVPD diagnosis in GCT, the mean age was 11.9 years; 18 (69%) patients had AVPD at the time of tumour diagnosis, 5 (19.3%) before the diagnosis with a latency of 24.4 months (range 4-48), and 3 (11.5%) during follow-up (mean 24 months, range 4-60) due to tumour recurrence. GCT patients presented with severe endocrinological manifestations (18/26), headache and vomiting (10/26), visual impairment (5/26) and behavioural changes with fatigue (1/26). In CP, the mean age at AVPD diagnosis was 10.3 years; 7 (15.2%) patients had AVPD at time of tumour diagnosis, 37 (80.5%) developed it shortly after neurosurgery and 2 patients (4.3%) after 2 and 4 months from surgery, respectively. Clinically, headache and visual abnormalities were the most frequent clinical symptoms at diagnosis of CP (39/46, 84.8%), with hydrocephalus (16/46, 35%) and displacement of optic chiasm (29/46, 63%) at the initial MRI. While the vast majority of CP patients (93%) received only surgery, all GCT patients received radiation therapy in addition to or instead of surgery.
CONCLUSION
An early differential diagnosis in children with AVPD and brain tumours is supported by a good understanding of the clinical features and imaging findings. Expert follow-up is necessary.
PubMed: 38493773
DOI: 10.1159/000538387 -
Acta Neurochirurgica Mar 2024Tuberculum sellae meningiomas (TSMs) usually compress the optic nerve and optic chiasma, thus affecting vision. Surgery is an effective means to remove tumors and...
OBJECTIVE
Tuberculum sellae meningiomas (TSMs) usually compress the optic nerve and optic chiasma, thus affecting vision. Surgery is an effective means to remove tumors and improve visual outcomes. On a larger scale, this study attempted to further explore and confirm the factors related to postoperative visual outcomes to guide the treatment of TSMs.
METHODS
Data were obtained from 208 patients with TSMs who underwent surgery at our institution between January 2010 and August 2022. Demographics, ophthalmologic examination results, imaging data, extent of resection, radiotherapy status, and surgical approaches were included in the analysis. Univariate and multivariate logistic regressions were used to assess the factors that could lead to favorable visual outcomes.
RESULTS
The median follow-up duration was 63 months, and gross total resection (GTR) was achieved in 174 (83.7%) patients. According to our multivariate logistic regression analysis, age < 60 years (odds ratio [OR] = 0.310; P = 0.007), duration of preoperative visual symptoms (DPVS) < 10 months (OR = 0.495; P = 0.039), tumor size ≤ 27 mm (OR = 0.337; P = 0.002), GTR (OR = 3.834; P = 0.006), and a tumor vertical-to-horizontal dimensional ratio < 1 (OR = 2.593; P = 0.006) were found to be significant independent predictors of favorable visual outcomes.
CONCLUSION
Age, DPVS, tumor size, GTR, and the tumor vertical-to-horizontal dimensional ratio were found to be powerful predictors of favorable visual outcomes. This study may help guide decisions regarding the treatment of TSMs.
Topics: Humans; Middle Aged; Meningioma; Meningeal Neoplasms; Treatment Outcome; Sella Turcica; Neurosurgical Procedures; Skull Base Neoplasms; Retrospective Studies
PubMed: 38491189
DOI: 10.1007/s00701-024-06033-x -
International Journal of Molecular... Feb 2024We recently identified PKN1 as a developmentally active gatekeeper of the transcription factor neuronal differentiation-2 (NeuroD2) in several brain areas. Since NeuroD2...
We recently identified PKN1 as a developmentally active gatekeeper of the transcription factor neuronal differentiation-2 (NeuroD2) in several brain areas. Since NeuroD2 plays an important role in amacrine cell (AC) and retinal ganglion cell (RGC) type formation, we aimed to study the expression of NeuroD2 in the postnatal retina of WT and animals, with a particular focus on these two cell types. We show that PKN1 is broadly expressed in the retina and that the gross retinal structure is not different between both genotypes. Postnatal retinal NeuroD2 levels were elevated upon knockout, with retinae showing more NeuroD2 cells in the lower portion of the inner nuclear layer. Accordingly, immunohistochemical analysis revealed an increased amount of AC in postnatal and adult retinae. There were no differences in horizontal cell, bipolar cell, glial cell and RGC numbers, nor defective axon guidance to the optic chiasm or tract upon knockout. Interestingly, we did, however, see a specific reduction in SMI-32 α-RGC in retinae. These results suggest that PKN1 is important for retinal cell type formation and validate PKN1 for future studies focusing on AC and α-RGC specification and development.
Topics: Animals; Retina; Retinal Ganglion Cells; Amacrine Cells; Optic Chiasm; Transcription Factors
PubMed: 38474095
DOI: 10.3390/ijms25052848 -
Cureus Feb 2024Optic neuritis is an inflammatory condition that leads to inflammation and damage to the optic nerve, causing visual disturbances and pain. It is commonly associated...
Optic neuritis is an inflammatory condition that leads to inflammation and damage to the optic nerve, causing visual disturbances and pain. It is commonly associated with disorders such as multiple sclerosis and often manifests as sudden, unilateral loss of vision or blurred vision. This disorder can affect individuals of any age and may lead to decreased binocular vision, potentially resulting in difficulties with depth perception and visual coordination. Physiotherapy plays a crucial role in treating optic neuritis by addressing various aspects of the illness. We report the case of a 14-year-old male with diminution in both eyes, which was sudden in onset and painless in nature, with no history of falls, trauma, or diabetes. Magnetic resonance imaging reveals hyperintensity on short-tau inversion recovery (STIR) with mild contrast enhancement in the posterior aspects of the bilateral optic nerves (intracranial part), extending to the optic chiasm in optic neuritis. Physiotherapists employ a range of techniques to enhance the patient's overall well-being, including gaze stability exercises, eye-hand coordination exercises, and habituation exercises aimed at improving visual tracking and coordination. Additionally, physiotherapy can help reduce related symptoms such as muscle weakness, balance issues, and posture problems caused by impaired visual perception. Physical therapists endeavor to improve the quality of life for patients with optic neuritis by enhancing functional independence and contributing to a more effective approach to treatment. Notably, there was an improvement in visual scanning, spatial awareness, and eye movement control in this case.
PubMed: 38435174
DOI: 10.7759/cureus.53423