Leukoencephalopathy with cerebral calcifications and cysts: the neurosurgical perspective. Literature review.

PURPOSE: Labrune syndrome is a rare white matter disease characterised by angiomatous leukoencephalopathy, diffuse intracranial calcifications and supra- and infra-tentorial parenchymal cysts. The clinical worsening is often related to cyst expansion, and surgery may be advocated for symptomatic management in about one-third of cases. However, no consensus exists on surgical timing, the most effective procedure, and long-term results. MATERIAL AND METHODS: Electronic databases, such as PubMed/ MEDLINE and Google Scholar, were analysed for studies published to April 2022 using the search term "Labrune syndrome OR leukoencephalopathy with calcifications and cysts OR brain calcifications OR brain cysts AND therapy OR surgery RESULTS: We found 28 studies reported in the literature, and we added a new case we treated at our Institution, reaching a series of 37 patients. All the patients in this series underwent surgical intervention. We aimed to review all the pertinent literature to discuss clinical-radiological features and etiopathogenetic insights, addressing the specific issue of the surgical options, clinical results and prognosis. CONCLUSION: LCC is a rare neurodegenerative disorder without effective medical treatment. Surgery remains the only therapeutic option to control the disease to reduce the mass effect of growing cystic lesions. Almost half of the patients who underwent surgery required further approaches, with great concern for the associated disabilities. Several procedures have been described, with no evidence of the most effective. Individual-based surgical planning must be advocated, tailoring the approach to limit side effects. Mini-invasive neuroendoscopic approaches may be considered to achieve those satisfactory results.

Adrenal cysts less than 10 cm can be safely observed.

BACKGROUND: Adrenal cysts are rare and appropriate management is unclear due to a lack of data on their natural history. Understanding adrenal cyst growth patterns would assist in clinical management. METHODS: This single-institution study included all adult patients diagnosed with simple adrenal cysts between 2004 and 2021. Baseline characteristics and outcomes of those who underwent resection (ADX) or observation (OBS) were compared using the chi-squared test, student's t-test, and Wilcoxon rank-sum test. Growth curves and sensitivity analysis were plotted for all patients who had follow-up imaging. RESULTS: We identified 77 patients with imaging-confirmed adrenal cysts. The majority were female (75.3%) and more than half were white (55.8%). One-third of patients underwent ADX, and the remaining were observed. ADX patients were younger (median age [IQR]: 55.5 y [45.0-68.2 y] vs. 44.2 y [38.7-55.0 y], p = 0.01) and more likely to be Hispanic (12% vs. 0%, p = 0.05). ADX patients presented with larger cysts (5.6 vs. 2.6 cm, p = 0.002). The median time from diagnosis to last follow-up was 1.1 y for ADX and 4.1 y for OBS. Average growth for OBS was 0.3 cm/y, while average growth for ADX was 3.9 cm/y. In ADX patients, cysts >10 cm grew significantly faster than cysts <10 cm (median growth rate 13.2 cm/y vs. 0.3 cm/y, p < 0.05). There was no adrenal malignancy diagnosis, hyperfunctionality, or observation-related complications (e.g., rupture). CONCLUSION: While size >4-6 cm has guided surgical referral for solid adrenal masses, this study demonstrates a size threshold of 10 cm, below which asymptomatic, simple adrenal cysts can safely be observed.

Large nasopalatine duct cyst in a child patient: a case report.

Introduction and importance: Nasopalatine duct cyst (NPDC) is one of the most common non-odontogenic cysts of the oral cavity, which it can arise at any age but is seen rarely in children. These cysts are usually asymptomatic, and are detected by routine radiographs. Case presentation: This case report presents the management of a large nasopalatine duct cyst in an 11-year-old pediatric patient. The patient presented with symptoms such severe mobility in central incisors and swelling in the anterior part of the palate. Diagnostic imaging confirmed the presence of a large cyst in the nasopalatine region. Surgical intervention was performed to excise the cyst, and the central incisors were splinted with a rigid splint for 4 weeks. Clinical discussion: The case of a large nasopalatine duct cyst in a child patient poses several important clinical considerations. Nasopalatine duct cysts are relatively rare, especially in pediatric patients, making this case particularly noteworthy. The presentation of a large cyst in a child raises questions about the etiology, diagnosis, and treatment options for such cases. Conclusions: This case report highlights the importance of considering nasopalatine duct cysts as a differential diagnosis in pediatric patients presenting with maxillary swelling and associated symptoms. Early recognition and appropriate management are essential to prevent potential complications and ensure optimal outcomes for the patient. The nasopalatine duct cyst that occurs at children may be aggressive and led to severe loss in the supporting alveolar bone with teeth mobility.

Unraveling Labrune Syndrome: A Case Report on the Neurological Phenotype in SNORD118-Negative Patients.

Labrune syndrome is a rare neurogenetic disorder with varied presentations. Here, we report the case of a 53-year-old male who presented with seizures, gait imbalance, and upper limb tremors for two years. Imaging studies revealed extensive leukodystrophy, multiple cerebral calcifications, and cystic lesions characteristic of Labrune syndrome. However, whole exome sequencing did not detect the SNORD118 mutation, typically associated with Labrune syndrome. Although the SNORD118 mutation is commonly found in Labrune syndrome, a few cases of the syndrome without this mutation have also been reported. This suggests the possibility that other yet undiscovered mutations may cause the same phenotype.

Cystic lymphangioma of the lesser omentum in an adult patient.

INTRODUCTION: Lymphangiomas belong to the group of benign vascular tumors that originate in the lymphatic tissue. Up to 90% of cases manifest in children before the second year of life. In adults, their presence is very rare. In most cases, they are located in the head, neck and axilla. Intra-abdominal lymphangiomas are very rare and represent less than 1% of all cases. CASE REPORT: The authors present the case of a 64-year-old female patient diagnosed with an intra-abdominal cystic lesion following a routine examination. A CT scan of the abdomen confirmed a cystic lesion located in the lesser omentum between the left lobe of the liver and the lesser curvature of the stomach. The patient was scheduled for laparoscopic exstirpation of the lesion. Histological examination confirmed the clinical diagnosis of cystic lymphangioma of the lesser omentum. CONCLUSION: The etiopathogenesis of lymphangiomas remains unclear. Despite the fact that they are benign tumors, lymphangiomas tend to have an infiltrative pattern of growth, invading surrounding structures. The majority of cases are asymptomatic and the diagnosis is incidental. The gold standard in treatment remains complete surgical extirpation with microscopically negative margins.

Cysts of the ligamentum flavum are often linked to ischemic conditions: A morphological study.

"Cysts of the ligamentum flavum (cysts-LF)" is the term for non-neoplastic cystic lesion involving LF. The aim of the present study was to elucidate the histopathological characteristics and pathogenesis of "cysts-LF". Herein, we defined cysts-LF as spinal cysts containing degenerative LF components. From archival cases, we investigated 18 symptomatic cysts-LF surgically removed from 18 patients (13 males and five females; median age 68.5 years [range, 42-86 years]). The elastic fibers of LF components in the wall were separated and/or torn, and cyst walls were accompanied by chondroid metaplasia (17 cases), myxoid changes (13 cases), ossification (11 cases), amyloid deposits (14 cases), hemosiderosis (six cases), granular/smudgy calcification (four cases), synovial cell linings (three cases), and severe inflammatory infiltrates (one case). These histologic features of our cysts-LF were shared by previously reported "cysts-LF." Fourteen cysts-LF demonstrated vascular stenosis/occlusion, and eight showed thick hyalinized vessels, suggesting local circulatory insufficiency. Eight cases (44%) exhibited lipomembranous fat necrosis, accompanied by hyalinized vascular changes (p = 0.003). Ischemic conditions were observed in nearly half of the present cysts-LF, and may be one of the main contributing factors for the formation of cysts-LF, via degeneration and cystic changes in the LF.

Purely Endoscopic Treatment for Arachnoid Cysts.

Arachnoid cysts are benign, mostly congenital lesions that are asymptomatic in most patients. In some cases, due to their location or sheer size, they produce a mass effect or hydrocephalic obstruction of the cerebrospinal fluid (CSF) flow and thus might warrant surgical treatment. The goal of the surgery is usually to reduce pressure inside the cysts, to reduce the mass effect, or to restore the CSF pathway. Surgical treatment options are resection, fenestration, or shunting of the cyst. Over the past decades, treatment under sheer endoscopic control either through a tube or via craniotomy of arachnoid cysts has been studied thoroughly and replaced open microsurgical cyst surgery in the opinion of many neurosurgeons. Endoscopic treatment has proven to be a safe and feasible technique for both patients and surgeons. In the following chapter, the authors describe their indications for surgery and pre- and postoperative workup, where precautions should be taken, and discuss the different possibilities and techniques of endoscopic cyst fenestration. The aim is to give detailed instructions and present cases for ventriculocystostomy, cystocisternostomy, ventriculocystocisternostomy, and cystoventriculostomy and point out specifics deemed to be important to avoid complications and to ensure the best possible outcome for each patient.

Reprogramming of Energy Metabolism in Human PKD1 Polycystic Kidney Disease: A Systems Biology Analysis.

Multiple alterations of cellular metabolism have been documented in experimental studies of autosomal dominant polycystic kidney disease (ADPKD) and are thought to contribute to its pathogenesis. To elucidate the molecular pathways and transcriptional regulators associated with the metabolic changes of renal cysts in ADPKD, we compared global gene expression data from human PKD1 renal cysts, minimally cystic tissues (MCT) from the same patients, and healthy human kidney cortical tissue samples. We found gene expression profiles of PKD1 renal cysts were consistent with the Warburg effect with gene pathway changes favoring increased cellular glucose uptake and lactate production, instead of pyruvate oxidation. Additionally, mitochondrial energy metabolism was globally depressed, associated with downregulation of gene pathways related to fatty acid oxidation (FAO), branched-chain amino acid (BCAA) degradation, the Krebs cycle, and oxidative phosphorylation (OXPHOS) in renal cysts. Activation of mTORC1 and its two target proto-oncogenes, HIF-1α and MYC, was predicted to drive the expression of multiple genes involved in the observed metabolic reprogramming (e.g., GLUT3, HK1/HK2, ALDOA, ENO2, PKM, LDHA/LDHB, MCT4, PDHA1, PDK1/3, MPC1/2, CPT2, BCAT1, NAMPT); indeed, their predicted expression patterns were confirmed by our data. Conversely, we found AMPK inhibition was predicted in renal cysts. AMPK inhibition was associated with decreased expression of PGC-1α, a transcriptional coactivator for transcription factors PPARα, ERRα, and ERRγ, all of which play a critical role in regulating oxidative metabolism and mitochondrial biogenesis. These data provide a comprehensive map of metabolic pathway reprogramming in ADPKD and highlight nodes of regulation that may serve as targets for therapeutic intervention.

Primary left intrathoracic extrapulmonary trans-diaphragmatic hydatid cyst causing eventration: first case in literature.

Hydatidosis is a zoonotic parasitic disease caused by the cystic stage of Echinococcus species. Intrathoracic extrapulmonary hydatid cysts causing eventration are very rare. Here, we report a case of a 62-year-old female who presented with chest pain, intermittent coughing, general weakness, and fever. On auscultation, there were diminished respiratory sounds at the base of the left lung. A computed tomography scan showed a cystic formation with an ambiguous location involving the left lower thorax and the left hypochondrium. Complete surgical resection is the standard treatment for intrathoracic extrapulmonary hydatid cysts. Due to the direct bordering of the cyst with the pericardium in the left cadiophrenic angle, a cystotomy and evacuation of the cystic cavity were performed, followed by washing it with povidone and hyperosmolar saline. The location of the hydatid cyst has an important role in determining the surgical approach, as the unusual location could affect the possibility of radically removing the cyst.

Uncommon cause of radiculopathy: A case of symptomatic Tarlov cyst in an elderly female and literature review.

Key Clinical Message: Tarlov cysts are uncommon causes of sacral radiculopathy, with particular predilection to second and third sacral roots, requiring timely diagnosis with lumbosacral MRI, and surgical management if symptomatic. Abstract: Tarlov cysts or Type II meningeal cysts, are CSF-filled sacs located in the extradural space of the sacral spinal canal, commonly originating at the dorsal root ganglion. While they were first documented by Tarlov in 1938, their etiology remains uncertain, with theories suggesting trauma-induced bleeding or congenital abnormalities. These cysts, estimated to affect between 1% and 9% of the adult population, typically manifest as incidental findings but may lead to symptoms such as radiculopathies, sacral pain, and weakness in related sacral muscles. We present a case of a 63-year-old female presenting with recurrent left buttock pain and radiating leg discomfort. Physical examination revealed tenderness in the left buttock region, positive straight leg raise test, and minimal sensory deficits in the S1-S2 dermatomes. A provisional diagnosis of radiculopathy was made, prompting further evaluation with MRI, revealing a Tarlov cyst and absence of lumbar spinal canal stenosis or neural foraminal compromise. The patient declined intervention and was managed conservatively. This case highlights the diagnostic challenges and therapeutic considerations in managing symptomatic Tarlov cysts, emphasizing the importance of tailored treatment strategies.

Fine-needle aspiration technique under endoscopic ultrasound guidance: A technical approach for RNA profiling of pancreatic neoplasms.

BACKGROUND: Early diagnosis of pancreatic ductal adenocarcinoma (PDAC) has been a longstanding challenge. The prognosis of patients with PDAC depends on the stage at diagnosis. It is necessary to identify biomarkers for the detection and differentiation of pancreatic tumors and optimize PDAC sample preparation procedures for DNA and RNA analysis. Most molecular studies are done using paraffin-embedded blocks; however, the integrity of DNA and RNA is often compromised in this format. Moreover, RNA isolated from human pancreatic tissue samples is generally of low quality, in part, because of the high concentration of endogenous pancreatic RNAse activity present. AIM: To assess the potential of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) to obtain specimens from pancreatic neoplasms for subsequent RNA molecular profiling, including next-generation sequencing (NGS). METHODS: Thirty-four EUS-FNA samples were included in this study: PDAC (n = 15), chronic pancreatitis (n = 5), pancreatic cysts (n = 14), mucinous cysts (mucinous cystic neoplasia/intraductal papillary mucinous neoplasia) n = 7, serous cystic neoplasms n = 5, and pseudocysts n = 2. Cyst material consisted of cyst fluid and cyst wall samples obtained by through-the-needle biopsy (TTNB). Samples were stored at -80 °C until analysis. RNA purity (A260/230, A260/280 ratios), concentration, and integrity (RIN) were assessed. Real-time polymerase chain reaction was conducted on all samples, and small RNA libraries were prepared from solid mass samples. RESULTS: RNA was successfully extracted from 29/34 (85%) EUS-FNA samples: 100% pancreatic adenocarcinoma samples, 100% chronic pancreatitis samples, 70% pancreatic fluid cyst samples, and 50% TTNB samples. The relative expression of GAPDH and HPRT were obtained for all successfully extracted RNA samples (n = 29) including low-quality RNA specimens. Low concentration and nonoptimal RIN values (no less than 3) of RNA extracted from EUS-FNA samples did not prevent NGS library preparation. The suitability of cyst fluid samples for RNA profiling varied. The quality of RNA extracted from mucinous cyst fluid had a median RIN of 7.7 (5.0-8.2), which was compatible with that from solid neoplasms [6.2 (0-7.8)], whereas the quality of the RNA extracted from all fluids of serous cystic neoplasms and TTNB samples had a RIN of 0. CONCLUSION: The results demonstrate the high potential of EUS-FNA material for RNA profiling of various pancreatic lesions, including low-quality RNA specimens.

Duplication cyst in adult cases: a journey from diagnosis to treatment.

Duplication cysts are rare congenital abnormalities of the alimentary tract, typically manifesting symptoms in the first 2 years but uncommon in adults. Medical data on duplication cysts is scarce in Vietnam's Mekong Delta region. These two adult cases aim to provide fundamental knowledge, clinical characteristics, diagnosis, risks, complications, surgical and observational treatment methods, and future bilateral tumor research. Case 1: A 21-year-old male with intestinal obstruction symptoms. Computed tomography (CT)-scan revealed a strangulated small bowel obstruction with ischemia. Laparotomy discovered a twisted ileal duplication cyst causing necrosis in ~30 cm of the small intestine. Case 2: A 34-year-old woman hospitalized for right lower quadrant pain. CT-scan showed a cystic structure protruding into the ascending colon lumen. She underwent a laparoscopic right hemicolectomy, and an ascending colonic cyst was found in the specimen. Conclusions: Duplication cysts are rare anomalies, especially in adults. Comprehending and acquiring knowledge ensures prompt diagnosis and appropriate treatment.

Laparoscopic Resection of Para-Aortic Mass at the Aortic Bifurcation: An Atypical Presentation of a Tailgut Cyst.

We review the case of a 43-year-old white male who presented with an enlarging pulsatile mass in the periumbilical region. Diagnostic imaging revealed an 8-cm heterogeneous mass abutting the left iliac artery at the aortic bifurcation. Due to the patient's persistently elevated blood pressure and elevated serum and urine catecholamines, a neuroendocrine tumor was suspected. Laparoscopic resection was performed and was well tolerated. However, the mass was characterized as a tailgut cyst upon pathological examination. This case highlights the utility of laparoscopy for the removal of large para-aortic masses, which can be achieved in a safe fashion by an experienced surgeon. In addition, this case highlights the importance of differential diagnoses in surgeries due to the occurrence of unexpected outcomes.

Utilizing Deep Learning for Diagnosing Radicular Cysts.

OBJECTIVES: The purpose of this study was to develop a deep learning algorithm capable of diagnosing radicular cysts in the lower jaw on panoramic radiographs. MATERIALS AND METHODS: In this study, we conducted a comprehensive analysis of 138 radicular cysts and 100 normal panoramic radiographs collected from 2013 to 2023 at Clinical Hospital Dubrava. The images were annotated by a team comprising a radiologist and a maxillofacial surgeon, utilizing the GNU Image Manipulation Program. Furthermore, the dataset was enriched through the application of various augmentation techniques to improve its robustness. The evaluation of the algorithm's performance and a deep dive into its mechanics were achieved using performance metrics and EigenCAM maps. RESULTS: In the task of diagnosing radicular cysts, the initial algorithm performance-without the use of augmentation techniques-yielded the following scores: precision at 85.8%, recall at 66.7%, mean average precision (mAP)@50 threshold at 70.9%, and mAP@50-95 thresholds at 60.2%. The introduction of image augmentation techniques led to the precision of 74%, recall of 77.8%, mAP@50 threshold to 89.6%, and mAP@50-95 thresholds of 71.7, respectively. Also, the precision and recall were transformed into F1 scores to provide a balanced evaluation of model performance. The weighted function of these metrics determined the overall efficacy of our models. In our evaluation, non-augmented data achieved F1 scores of 0.750, while augmented data achieved slightly higher scores of 0.758. CONCLUSION: Our study underscores the pivotal role that deep learning is poised to play in the future of oral and maxillofacial radiology. Furthermore, the algorithm developed through this research demonstrates a capability to diagnose radicular cysts accurately, heralding a significant advancement in the field.

Peribiliary cysts: uncommon mimickers of hepatic and biliary cystic lesions.

Peribiliary cysts (PC) are dilatations of the extramural peribiliary glands, with a very characteristic imaging pattern in the contexts of hepatobiliary diseases, idiopathic portal hypertension, adult-type polycystic disease of the liver and kidneys, solitary nonparasitic cysts, and systemic infections. The clinical relevance of PC is related to the fact that their presence may indicate underlying pathologies (such as those mentioned above) and may be considered as a potential marker of liver disease progression. Although imaging findings are quite characteristic, recognizing their main differential diagnoses, including malignancies, can be challenging but are essential to avoiding diagnostic errors.

Outcomes and adverse events for spinal synovial cysts surgical treatment: a systematic review and meta-analysis.

BACKGROUND: Spinal synovial cysts (SSCs) are a rare cause of nerve root and spinal cord compression. Surgical excision of SSCs remains the mainstay of treatment in the presence of unremitting symptoms or neurological deficits, but the choice of the surgical approach remains controversial. The goal of this study was to compare clinical outcomes and adverse events associated with traditional approaches (interlaminar or laminectomy/hemilaminectomy) and minimally invasive approaches (microsurgical tubular approaches or endoscopic approaches) for SSCs. METHODS: Studies reporting surgical management of SSCs were searched in three online databases (PubMed, the Cochrane Library, and Web of Science). This meta-analysis was reported following the PRISMA Statement. It was registered at the International Prospective Register of Systematic Reviews (CRD42021288992). The Cochrane Collaboration's Risk of Bias in Nonrandomised Studies-of Interventions (ROBINS-I) was used to evaluate bias. Extracted research data were statistically analyzed using Stata 16 and SPSS statistics 25. RESULTS: A total of 22 related relevant studies were included. Meta-analysis revealed no statistically significant difference in dural tear, residual cyst, recurrence, reoperation, and operation time between minimally invasive approaches and traditional approaches (p > 0.05), but minimally invasive approaches had a good functional improvement (p = 0.004). Postoperative length of hospital stays and intraoperative bleeding in traditional approaches were also higher than in minimally invasive approaches (p < 0.05). CONCLUSION: Based on the available evidence, minimally invasive approaches may be better than traditional approaches in the treatment of SSCs. Minimally invasive approaches had the advantages of improving clinical satisfaction, with a similar complication rate to traditional approaches. Moreover, endoscopic and microsurgical tubular approaches had similar outcomes.

Congenital orbital respiratory epithelial cyst with anomalous maxillary antrum in the absence of bony defect.

A 23-year-old female symptomatic with unilateral proptosis with superior globe displacement and hypertropia was found to have a multiloculated cystic lesion with bony lining arising from the inferomedial orbit. The adjacent maxillary sinus was markedly smaller on the affected side, with no defect of the wall on radiographic or intraoperative examination. Surgical excision and histological analysis of the lesion demonstrated an orbital respiratory epithelial cyst. A literature review of congenital orbital respiratory epithelial cysts is presented. To our knowledge, this is the first published case of choristomatous orbital respiratory epithelial cyst associated with ossification, and a primary or secondary anomaly of the adjacent sinus without bony defect.

Ear keloid and epidermal cyst following auricular cartilage harvest for rhinoplasty: A case report.

BACKGROUND: This case report highlights a rare instance of concurrent keloid and epidermal cyst development at an ear cartilage harvest site following rhinoplasty in a 25-year-old woman. Both conditions, which typically stem from skin trauma, seldom occur together, demonstrating the exceptional characteristics of this case. CASE SUMMARY: The patient underwent successful surgical removal of both the keloid and the epidermal cyst. Postoperative treatment included the use of silicone sheets, gel, and oral tranilast to reduce scarring. No recurrence was observed over a 6-mo follow-up period, indicating effective management of the condition. CONCLUSION: The effective management of complex skin trauma cases underscores the need for individualized treatment strategies in plastic surgery.