-
Child's Nervous System : ChNS :... Apr 2024Intracranial teratoma represents a rare neoplasm, occurring predominantly during childhood. Characteristic symptoms depend on the location but are mainly hydrocephalus,... (Review)
Review
BACKGROUND
Intracranial teratoma represents a rare neoplasm, occurring predominantly during childhood. Characteristic symptoms depend on the location but are mainly hydrocephalus, visual disturbances, hypopituitarism, and diabetes insipidus. Initial diagnosis can be challenging due to similar radiological features in both teratomas and other lesions such as craniopharyngiomas. Gross total resection is recommended if feasible and associated with a good prognosis.
CASE DESCRIPTION
A 10-year-old girl presented with newly diagnosed growth retardation, fatigue, cephalgia and bilateral hemianopia. Further laboratory analysis confirmed central hypothyroidism and hypercortisolism. Cranial magnetic resonance imaging showed a cystic space-occupying lesion in the sellar and suprasellar compartment with compression of the optic chiasm without hydrocephalus present, suspicious of craniopharyngioma. Subsequently, an endonasal endoscopic transsphenoidal near-total tumor resection with decompression of the optic chiasm was performed. During postoperative recovery the patient developed transient diabetes insipidus, the bilateral hemianopia remained unchanged. The patient could be discharged in a stable condition, while hormone replacement for multiple pituitary hormone deficiency was required. Surprisingly, histopathology revealed conspicuous areas of skin with formation of hairs and squamous epithelia, compatible with a mature teratoma.
CONCLUSIONS
We present an extremely rare case of pediatric sellar teratoma originating from the pituitary gland and a review of literature focusing on the variation in presentation and treatment. Sellar teratomas are often mistaken for craniopharyngioma due to their similar radiographic appearances. However, the primary goal of treatment for both pathologies is to decompress eloquent surrounding structures such as the optic tract, and if applicable, resolution of hydrocephalus while avoiding damage to the pituitary stalk and especially the hypothalamic structures. If feasible, the aim of surgery should be gross total resection.
Topics: Female; Humans; Child; Craniopharyngioma; Hemianopsia; Pituitary Neoplasms; Hypopituitarism; Diabetes Insipidus; Central Nervous System Neoplasms; Teratoma; Hydrocephalus
PubMed: 38276973
DOI: 10.1007/s00381-024-06296-w -
Polish Archives of Internal Medicine Mar 2024
Topics: Humans; Diabetes Insipidus, Neurogenic; Immune Checkpoint Inhibitors; Retrospective Studies; Diabetes Mellitus
PubMed: 38258733
DOI: 10.20452/pamw.16672 -
BMC Medical Genomics Jan 2024X-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single nucleotide variants and small...
BACKGROUND
X-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single nucleotide variants and small insertions/deletions in AVPR2 are reliably detected by routine clinical sequencing. Nevertheless, structural variants involving AVPR2 are challenging to identify accurately by conventional genetic testing. Here, we report a novel deletion of AVPR2 in a Czech family identified for the first time by targeted long-read sequencing (T-LRS).
METHODS
A male proband with X-linked NDI underwent clinical sequencing of the AVPR2 gene that failed and thus indicated possible whole-gene deletion. Therefore, PCR mapping and subsequent targeted long-read sequencing (T-LRS) using a Pacific Biosciences sequencer were applied to search for the suspected deletion. To validate the deletion breakpoints and prove variant segregation in the family with X-linked NDI, Sanger sequencing of the deletion junction was performed. Quantitative real-time PCR was further carried out to confirm the carrier status of heterozygous females.
RESULTS
By T-LRS, a novel 7.5 kb deletion of AVPR2 causing X-linked NDI in the proband was precisely identified. Sanger sequencing of the deletion junction confirmed the variant breakpoints and detected the deletion in the probands´ mother, maternal aunt, and maternal cousin with X-linked NDI. The carrier status in heterozygous females was further validated by quantitative real-time PCR.
CONCLUSIONS
Identifying the 7.5 kb deletion gave a precise molecular diagnosis for the proband, enabled genetic counselling and genetic testing for the family, and further expanded the spectrum of structural variants causing X-linked NDI. Our results also show that T-LRS has significant potential for accurately identifying putative structural variants.
Topics: Female; Humans; Male; Diabetes Insipidus, Nephrogenic; Kidney; Gene Deletion; Genetic Testing; Heterozygote; Rare Diseases; Diabetes Mellitus
PubMed: 38254165
DOI: 10.1186/s12920-024-01801-1 -
Journal of Neurological Surgery Reports Jan 2024Collision tumors involving the sella are rare. Intrasellar collision tumors are most commonly composed of a combination of pituitary adenomas and pituitary...
Collision tumors involving the sella are rare. Intrasellar collision tumors are most commonly composed of a combination of pituitary adenomas and pituitary neuroendocrine tumors; however, collision tumors consisting of a pituitary adenoma and intrasellar meningioma are exceedingly rare. The authors present the case of a 47-year-old man who presented with progressive right eye vision loss. Magnetic resonance imaging showed a large, heterogeneously enhancing sellar mass with suprasellar extension. Using a transcranial approach with a right subfrontal craniotomy, near-total resection of the mass was achieved. Histologic analysis confirmed a diagnosis of a gonadotroph adenoma with concomitant clear cell meningioma (CCM). This patient was discharged with improvement in visual acuity and no signs of diabetes insipidus. Given the indistinguishable radiographic characteristics of pituitary adenoma and CCM, a preoperative diagnosis of a collision tumor was difficult. This case was uniquely challenging since the CCM component lacked the classic dural attachment that is associated with meningiomas on neuroimaging. CCMs are classified as central nervous system (CNS) World Health Organization (WHO) grade 2 tumors and tend to behave more aggressively, therefore warranting close surveillance for signs of tumor recurrence. This is the first case to report a collision tumor consisting of pituitary adenoma and CCM.
PubMed: 38213880
DOI: 10.1055/s-0043-1777792 -
International Journal of Surgery Case... Feb 2024Lymphocytic hypophysitis is an underestimated disease and the pathogenesis is still poorly elucidated. Post-coronavirus lymphocytic hypophysitis is a new emerging entity.
INTRODUCTION AND IMPORTANCE
Lymphocytic hypophysitis is an underestimated disease and the pathogenesis is still poorly elucidated. Post-coronavirus lymphocytic hypophysitis is a new emerging entity.
CASE PRESENTATION
A 16-year-old previously healthy girl presented with pituitary tumor syndrome. She suffered from frontal headaches, polyuria-polydipsic syndrome, and impaired visual acuity. She was diagnosed with COVID-19 infection three weeks before. Contrast-enhanced magnetic resonance imaging (MRI) revealed pituitary enlargement with intense homogenous enhancement postgadolinium on T1 weighted images. The diagnosis of lymphocytic hypophysitis was made after ruling out other differential diagnosis. She was started on methylprednisolone. Improvement of clinical symptoms was seen on day 5 with a significant decrease in headache intensity.
CLINICAL DISCUSSION
The article summarizes data from cases reported in the literature and our case to highlight coronavirus as a new trigger of lymphocytic hypophysitis. Despite the rarity of this complication, patients with a suspicion of hypophysitis after a recent COVID-19 infection should be carefully evaluated.
CONCLUSION
COVID-19 infection can cause lymphocytic hypophysitis. However, it seems premature to conclude on the causal link between COVID-19 and endocrine diseases. Further studies on larger samples are needed to comprehend the pathogenesis of autoimmune endocrinopathies after COVID-19 infection.
PubMed: 38199020
DOI: 10.1016/j.ijscr.2023.109218 -
European Archives of... Apr 2024Clinical presentations encompass respiratory, feeding issues, nasopharyngeal mass, meningitis, CSF leakage, craniofacial anomalies, and endocrine problems. Surgery is... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
Clinical presentations encompass respiratory, feeding issues, nasopharyngeal mass, meningitis, CSF leakage, craniofacial anomalies, and endocrine problems. Surgery is the primary treatment, transitioning from frontal craniotomy to endoscopic methods, offering improved outcomes. Yet, more studies are needed. A comprehensive review on trans-sellar trans-sphenoidal encephalocele (TSTSE) is missing. Our study aims to fill this gap, offering a comprehensive perspective for physicians.
METHODS
This review adhered to the PRISMA guideline. Eligible studies focused on human subjects, specifically trans-sellar encephaloceles, and provided comprehensive treatment details. English language articles published up to April 11th, 2023, were considered. Two trained researchers conducted article screening using consistent criteria. Data extraction covered various aspects, including clinical presentation, surgical methods, and outcomes, with results presented descriptively in two tables. Due to the rarity of this congenital anomaly, meta-analysis and publication bias assessment were not feasible. Data extraction was independently conducted by two reviewers, with subsequent cross-verification.
RESULTS
A total of 36 patients were identified from 14 studies, the most frequently observed clinical presentation was dyspnea (41.67%) and the most frequently observed accompanying anomaly was cleft lip/palate (55.56%). CT and MRI were adopted in nearly all the cases, and trans-nasal approach was the most often used surgical approach (57.14%) with the 'soft material combination' the most commonly used method for cranial base repairment (35.71%). A total of two deaths occurred and diabetes insipidus was the most common perioperative complication which occurred in six surgery patients (21.43%).
CONCLUSION
TSTSE predominantly affects males and presents with dyspnea, visual deficits, pituitary insufficiency, and cranial base-related symptoms. Early diagnosis is critical, with advanced imaging playing a key role. Endocrine assessment is vital for hormone management. Surgery offers symptom relief but entails risks, including reported fatalities and complications. The choice between surgery and conservative management requires careful deliberation. The trans-nasal approach is favored for its reduced trauma, yet further research is necessary to validate this preference.
Topics: Male; Humans; Encephalocele; Cleft Lip; Cleft Palate; Prognosis; Dyspnea
PubMed: 38189965
DOI: 10.1007/s00405-023-08355-5 -
Cureus Dec 2023Cerebral salt wasting syndrome (CSWS) is a condition characterized as the loss of sodium secondarily due to an intracranial process, commonly following the neurosurgical...
Cerebral salt wasting syndrome (CSWS) is a condition characterized as the loss of sodium secondarily due to an intracranial process, commonly following the neurosurgical resection of mass lesions. This condition leads to a hypovolemic hypotonic hyponatremia. The identification of this syndrome is often mistaken for syndrome of inappropriate anti-diuretic hormone (SIADH). The treatment for both conditions is vastly different. Given the risk of mortality when balancing sensitivities in hyponatremia and its commonality in clinical scenarios, a distinction is crucial. In this case report, we discuss a patient who presented with CSWS following the surgical resection of a pituitary adenoma. She subsequently developed hypernatremia, treated with DDAVP for the suspicion of diabetes insipidus. Once this was discontinued, she further presented with worsening hyponatremia. This hyponatremia persisted even after the discontinuation of DDAVP, with no significant intervention leading to hypovolemic isotonic hyponatremia, supporting a diagnosis of CSWS. Our findings stress the importance of the proper identification of hyponatremia with guided treatment following neurosurgical intervention and give physicians an insight into the anomalies of hyponatremia that should be further discussed.
PubMed: 38179389
DOI: 10.7759/cureus.49928 -
Endocrinology and Metabolism (Seoul,... Feb 2024Delayed postoperative hyponatremia (DPH) is the most common cause of readmission after pituitary surgery. In this study, we aimed to evaluate the cutoff values of serum... (Observational Study)
Observational Study
BACKGRUOUND
Delayed postoperative hyponatremia (DPH) is the most common cause of readmission after pituitary surgery. In this study, we aimed to evaluate the cutoff values of serum copeptin and determine the optimal timing for copeptin measurement for the prediction of the occurrence of DPH in patients who undergo endoscopic transsphenoidal approach (eTSA) surgery and tumor resection.
METHODS
This was a prospective observational study of 73 patients who underwent eTSA surgery for pituitary or stalk lesions. Copeptin levels were measured before surgery, 1 hour after extubation, and on postoperative days 1, 2, 7, and 90.
RESULTS
Among 73 patients, 23 patients (31.5%) developed DPH. The baseline ratio of copeptin to serum sodium level showed the highest predictive performance (area under the curve [AUROC], 0.699), and its optimal cutoff to maximize Youden's index was 2.5×10-11, with a sensitivity of 91.3% and negative predictive value of 92.0%. No significant predictors were identified for patients with transient arginine vasopressin (AVP) deficiency. However, for patients without transient AVP deficiency, the copeptin-to-urine osmolarity ratio at baseline demonstrated the highest predictive performance (AUROC, 0.725). An optimal cutoff of 6.5×10-12 maximized Youden's index, with a sensitivity of 92.9% and a negative predictive value of 94.1%.
CONCLUSION
The occurrence of DPH can be predicted using baseline copeptin and its ratio with serum sodium or urine osmolarity only in patients without transient AVP deficiency after pituitary surgery.
Topics: Humans; Arginine; Diabetes Insipidus, Neurogenic; Glycopeptides; Hyponatremia; Pituitary Diseases; Sodium
PubMed: 38171208
DOI: 10.3803/EnM.2023.1792 -
Asian Journal of Surgery Apr 2024This study aims to predict new-onset secondary adrenal insufficiency (NOSAI) after transsphenoidal pituitary tumor resection surgery using perioperative growth hormone...
OBJECTIVE
This study aims to predict new-onset secondary adrenal insufficiency (NOSAI) after transsphenoidal pituitary tumor resection surgery using perioperative growth hormone (GH) and prolactin (PRL) levels, among other factors.
METHODS
A cohort of 124 adult patients who underwent transsphenoidal resection for non-functioning pituitary adenoma, with routine perioperative glucocorticoid use, was used to develop the predictive regression model. An additional 46 patients served as the validation cohort. Generalized additive models were used to identify optimal cut-off points for the variables.
RESULTS
The GH level on postoperative day one (POD1) can be a simple predictor by implementing a cut-off point of 0.41 ng/ml. A value ≤ 0.41 ng/mL predicted NOSAI with 0.6316 sensitivity and 0.7810 specificity for the original cohort and 1.0000 sensitivity and 0.7143 specificity for the validation cohort. The multiple logistic regression model included perioperative PRL level difference, perioperative GH level difference, intraoperative cerebrospinal fluid (CSF) leakage, tumor size, and the combined effect of diabetes insipidus (DI) and relative perioperative GH level difference. The areas under the receiver operating characteristic curves were 0.9410 (original cohort) and 0.9494 (validation cohort) for the regression model.
CONCLUSION
Early morning GH level on POD1 can predict NOSAI with fair accuracy when perioperative stress dose glucocorticoid is administered. Prediction accuracy can be improved by considering CSF leakage, DI, and perioperative changes in GH and PRL in the final regression model.
Topics: Adult; Humans; Pituitary Neoplasms; Adenoma; Glucocorticoids; Growth Hormone; Adrenal Insufficiency; Retrospective Studies
PubMed: 38148260
DOI: 10.1016/j.asjsur.2023.12.120