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1.
Cureus ; 15(6): e41151, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37519581

ABSTRACT

Background Recently, laparoscopic totally extraperitoneal (TEP) inguinal hernia repair has been considered one of the most effective and widely performed techniques for repairing inguinal hernias by avoiding entry into the peritoneal cavity. Its indications have evolved and expanded to almost encompass the entire range of groin hernias. This retrospective study aims to determine the outcomes and postoperative complications in patients undergoing TEP inguinal hernia repair performed by a single surgeon for groin hernias at a single center. Methodology We retrospectively evaluated the prospectively collected data of 900 patients who underwent elective TEP repair over 18 years at a single center performed by a single surgeon from April 2004 to February 2023. Patients were evaluated for age, sex, type of hernia, time taken for surgery, open from laparoscopy, intra and postoperative complications, hospital stay, and days taken to resume regular activity. Results The mean age of the 900 patients was 59 years (range = 21-83 years). The mean age of males and females was 59 and 56 years, respectively. The mean operative time was 40 and 55 minutes for a unilateral and bilateral hernia, respectively. In total, 369 (41%) patients had a right-sided groin hernia, 382 (42%) patients had a left-sided groin hernia, and 149 (16.5%) patients had bilateral groin hernias. A total of 121 (13%) patients had occult hernias, and 17 patients underwent concurrent TEP and transurethral resection of the prostate. Of the 900 patients, 20 (2.2%) had a recurrent hernia after a previous open inguinal hernia repair. Seven (0.8%) patients had a recurrence of hernias post-TEP and subsequently underwent open inguinal hernia repair. Seven (0.7%) patients needed conversion from TEP to the transabdominal pre-peritoneal approach. Only minor complications were noted intra and postoperatively. The average time of hospitalization was 24 hours. The time to resume normal activities was five (±1) days. Conclusions Our experience suggests that TEP repair with mesh fixation is a safe and effective procedure with a marginal recurrence rate. Apart from the obvious cosmetic benefits of minimal tissue invasion, a significant advantage of TEP is the visualization of the contralateral groin along with the surgical repair of a hernia, if required, in the same sitting and without the insertion of any extra trocars.

2.
Cell Rep ; 40(5): 111162, 2022 08 02.
Article in English | MEDLINE | ID: mdl-35926460

ABSTRACT

Medulloblastoma is currently subclassified into distinct DNA methylation subgroups/subtypes with particular clinico-molecular features. Using RNA sequencing (RNA-seq) in large, well-annotated cohorts of medulloblastoma, we show that transcriptionally group 3 and group 4 medulloblastomas exist as intermediates on a bipolar continuum between archetypal group 3 and group 4 entities. Continuum position is prognostic, reflecting a propensity for specific DNA copy-number changes, and specific switches in isoform/enhancer usage and RNA editing. Examining single-cell RNA-seq (scRNA-seq) profiles, we show that intratumoral transcriptional heterogeneity along the continuum is limited in a subtype-dependent manner. By integrating with a human scRNA-seq reference atlas, we show that this continuum is mirrored by an equivalent continuum of transcriptional cell types in early fetal cerebellar development. We identify distinct developmental niches for all four major subgroups and link each to a common developmental antecedent. Our findings show a transcriptional continuum arising from oncogenic disruption of highly specific fetal cerebellar cell types, linked to almost every aspect of group 3/group 4 molecular biology and clinico-pathology.


Subject(s)
Cerebellar Neoplasms , Medulloblastoma , Cerebellar Neoplasms/genetics , Cerebellar Neoplasms/pathology , DNA Methylation/genetics , Humans , Medulloblastoma/genetics , Medulloblastoma/pathology
4.
Acta Neuropathol ; 144(3): 565-578, 2022 09.
Article in English | MEDLINE | ID: mdl-35831448

ABSTRACT

We reconstructed the natural history and temporal evolution of the most common childhood brain malignancy, medulloblastoma, by single-cell whole-genome sequencing (sc-WGS) of tumours representing its major molecular sub-classes and clinical risk groups. Favourable-risk disease sub-types assessed (MBWNT and infant desmoplastic/nodular MBSHH) typically comprised a single clone with no evidence of further evolution. In contrast, highest risk sub-classes (MYC-amplified MBGroup3 and TP53-mutated MBSHH) were most clonally diverse and displayed gradual evolutionary trajectories. Clinically adopted biomarkers (e.g. chromosome 6/17 aberrations; CTNNB1/TP53 mutations) were typically early-clonal/initiating events, exploitable as targets for early-disease detection; in analyses of spatially distinct tumour regions, a single biopsy was sufficient to assess their status. Importantly, sc-WGS revealed novel events which arise later and/or sub-clonally and more commonly display spatial diversity; their clinical significance and role in disease evolution post-diagnosis now require establishment. These findings reveal diverse modes of tumour initiation and evolution in the major medulloblastoma sub-classes, with pathogenic relevance and clinical potential.


Subject(s)
Brain Neoplasms , Cerebellar Neoplasms , Medulloblastoma , Brain Neoplasms/genetics , Cerebellar Neoplasms/pathology , Chromosome Aberrations , Humans , Infant , Medulloblastoma/pathology , Mutation , Sequence Analysis, DNA
5.
Cureus ; 14(3): c58, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35342666

ABSTRACT

[This corrects the article DOI: 10.7759/cureus.20121.].

6.
J Minim Access Surg ; 18(1): 72-76, 2022.
Article in English | MEDLINE | ID: mdl-35017395

ABSTRACT

AIM: This study aimed to evaluate concurrent laparoscopic totally extraperitoneal (TEP) inguinal hernia repair and transurethral resection of the prostate (TURP) with determination of outcomes. MATERIALS AND METHODS: This retrospective study was conducted at our hospital, from June 2011 to June 2020. Over 9 years, 17 patients with co-existing uncomplicated unilateral or bilateral inguinal hernia (primary/recurrent) and significant benign prostatic hypertrophy were operated in the same sitting. The following outcomes were compared: duration of the surgery, conversion to open hernia surgery, intraoperative and post-operative complications, duration of hospital stay, recurrence, time taken to resume normal activity and cost of the treatment. RESULTS: This study included 17 patients with a mean age of 65 years (range of 50-87 years). The average time taken for the surgery was 115 min with no conversion to open hernia repair. The mean post-operative stay was 3.7 days. There were four patients (23.5%) with seromas identified at day 10, only two remained at 6 weeks and none at 12 weeks. None had significant bleeding intraoperatively or postoperatively. There was no superficial or deep wound infection (including mesh infection). There was no recurrence of inguinal hernia. Two patients (11.7%) developed post-TURP urethral stricture and underwent cystoscopic stricturoplasty, 3 and 2.5 months after the initial procedure. The time taken to resume normal activity was 7 (±1) days. The hospital cost is reduced by 25% as compared to the sum of costs when both the operations are done separately. CONCLUSION: Concurrent TEP inguinal hernia repair and TURP is a practical, safe and cost-effective procedure.

8.
Med Mycol ; 60(2)2022 Feb 02.
Article in English | MEDLINE | ID: mdl-35076069

ABSTRACT

Invasive fungal co-infections with COVID-19 are currently being reported at an alarming rate. Our study explores the importance of early identification of the disease, probable etiopathogenesis, clinical and radiological features and a treatment protocol for COVID-19 Associated Fungal Osteomyelitis of Jaws and Sinuses (CAFOJS). A one-year prospective study from June 2020 to May 2021 was conducted among CAFOJS diagnosed patients at a tertiary care center in South India. Demographic details, COVID-19 infection and treatment history, time taken for initiation of symptoms after COVID-19 diagnosis, medical history and clinical features were recorded. All patients were managed with a standard diagnostic and intervention protocol which included pre-operative and post-operative administration of Inj. Amphotericin B 50 mg (liposomal), early aggressive surgical debridement and tab. Posaconazole GR 300 mg OD for 90 days after discharge. Thirty-nine (78%) patients were diagnosed with CAFOJS out of 50 osteomyelitis patients. 35 patients (90%) were diabetic and 21 patients (54%) were known to receive steroids during the COVID-19 treatment. Sole existence of Mucorales spp. was seen in 30 patients (77%), Aspergillus fumigatus in 2 patients (5%), Curvularia spp. in 2 patients (5%). Concomitant existence of Mucorales and Aspergillus fumigatus was reported in two patients (5%) and Candida albicans in three patients (8%). Patients underwent treatment with standard protocol and no recurrence noted. CAFOJS is a clinical entity with aggressive presentation and warrants early diagnosis and treatment. LAY SUMMARY: Invasive fungal infections of head and neck region cause necrosis of bones affected by it, especially maxilla. Early diagnosis and treatment are advocated in such infections due to its aggressive clinical presentation compared to similar infections before COVID-19 pandemic.


Subject(s)
COVID-19 Drug Treatment , COVID-19 , Osteomyelitis , Antifungal Agents/therapeutic use , COVID-19/diagnosis , COVID-19/epidemiology , COVID-19 Testing , Comorbidity , Humans , Jaw , Osteomyelitis/diagnosis , Osteomyelitis/drug therapy , Osteomyelitis/epidemiology , Pandemics , Prospective Studies , SARS-CoV-2
9.
Neuro Oncol ; 24(1): 153-165, 2022 01 05.
Article in English | MEDLINE | ID: mdl-34272868

ABSTRACT

BACKGROUND: Less than 5% of medulloblastoma (MB) patients survive following failure of contemporary radiation-based therapies. Understanding the molecular drivers of medulloblastoma relapse (rMB) will be essential to improve outcomes. Initial genome-wide investigations have suggested significant genetic divergence of the relapsed disease. METHODS: We undertook large-scale integrated characterization of the molecular features of rMB-molecular subgroup, novel subtypes, copy number variation (CNV), and driver gene mutation. 119 rMBs were assessed in comparison with their paired diagnostic samples (n = 107), alongside an independent reference cohort sampled at diagnosis (n = 282). rMB events were investigated for association with outcome post-relapse in clinically annotated patients (n = 54). RESULTS: Significant genetic evolution occurred over disease-course; 40% of putative rMB drivers emerged at relapse and differed significantly between molecular subgroups. Non-infant MBSHH displayed significantly more chromosomal CNVs at relapse (TP53 mutation-associated). Relapsed MBGroup4 demonstrated the greatest genetic divergence, enriched for targetable (eg, CDK amplifications) and novel (eg, USH2A mutations) events. Importantly, many hallmark features of MB were stable over time; novel subtypes (>90% of tumors) and established genetic drivers (eg, SHH/WNT/P53 mutations; 60% of rMB events) were maintained from diagnosis. Critically, acquired and maintained rMB events converged on targetable pathways which were significantly enriched at relapse (eg, DNA damage signaling) and specific events (eg, 3p loss) predicted survival post-relapse. CONCLUSIONS: rMB is characterised by the emergence of novel events and pathways, in concert with selective maintenance of established genetic drivers. Together, these define the actionable genetic landscape of rMB and provide a basis for improved clinical management and development of stratified therapeutics, across disease-course.


Subject(s)
Cerebellar Neoplasms , Medulloblastoma , Cerebellar Neoplasms/genetics , DNA Copy Number Variations , Humans , Medulloblastoma/genetics , Mutation , Neoplasm Recurrence, Local/genetics
10.
Epilepsia Open ; 7(3): 488-495, 2022 09.
Article in English | MEDLINE | ID: mdl-34653311

ABSTRACT

Focal cortical dysplasia (FCD) is one of the most common malformations causing refractory epilepsy. Dysregulation of glutamatergic systems plays a critical role in the hyperexcitability of dysplastic neurons in FCD lesions. The pharmacoresistant nature of epilepsy associated with FCD may be due to a lack of well-tolerated and precise antiepileptic drugs that can target glutamate receptors. Here, for the first time in human FCD brain slices, we show that the established, noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor antagonist, perampanel has potent antiepileptic action. Moreover, we demonstrate that this effect is due to a reduction in burst firing behavior in human FCD microcircuits. These data support a potential role for the treatment of refractory epilepsy associated with FCD in human patients.


Subject(s)
Drug Resistant Epilepsy , Epilepsy , Malformations of Cortical Development , Anticonvulsants/pharmacology , Anticonvulsants/therapeutic use , Drug Resistant Epilepsy/drug therapy , Epilepsy/drug therapy , Excitatory Amino Acid Antagonists/therapeutic use , Humans , Malformations of Cortical Development/drug therapy , Malformations of Cortical Development/pathology , Nitriles , Pyridones , Receptors, AMPA
11.
Int J Surg Case Rep ; 90: 106652, 2022 Jan.
Article in English | MEDLINE | ID: mdl-34915441

ABSTRACT

INTRODUCTION: Retroperitoneal fibrosis (RPF) is a rare fibro-inflammatory condition which is characterized by development of extensive fibrosis throughout the retroperitoneum. It is classically centred over the anterior surface of the fourth and fifth lumbar vertebrae. It results in entrapment and extrinsic compression of retroperitoneal structures. PRESENTATION OF THE CASE: We present the case of a 69 years old man who was reported to have right pelvi - ureteric junction obstruction on computed tomography, but turned out to have RPF. DISCUSSION: Retroperitoneal fibrosis commonly causes obstructive uropathy (either unilateral, bilateral or progressing from unilateral to bilateral) and if untreated, renal failure. It has high response/remission rates to glucocorticoid therapy. However, relapse rates are also high. Hence, close surveillance with serial laboratory and imaging investigations, after achieving remission, is key to long term disease control. CONCLUSION: Although classical imaging findings, supportive laboratory markers and suggestive/diagnostic histopathology appearances for RPF are well documented, its accurate preoperative diagnosis is not always an assured certainty.

12.
Cureus ; 13(12): e20121, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34873564

ABSTRACT

Background Peritonitis was previously considered a contraindication for minimally invasive surgery due to the risk of malignant hypercapnia partial pressure of carbon-dioxide (PCO2) and toxic shock syndrome. The objective of this retrospective study was to evaluate the role of laparoscopic surgery (LS) in selected patients with perforative peritonitis and to study its feasibility, safety, and outcomes. Patients and methods This was a retrospective study of 25 patients spanning over five years from 2015 to 2020. This study comprised all patients who were diagnosed with perforative peritonitis on preoperative physical/clinical examination, radiological evaluations, and who were stable enough to withstand pneumoperitoneum. Patients were evaluated for causes, operative time, duration of hospital stay, intra-, and postoperative complications, time taken to resume normal activity, and conversion to open surgery. Data was extracted from the hospital electronic medical records, for the above-mentioned parameters. Results Twenty-five patients with perforative peritonitis underwent diagnostic and therapeutic LS in our institute. The mean age was 46 years (35-79 years). Ten patients (40%) were diagnosed with gastro-duodenal perforation. Out of these ten patients, ninepatients (90%) were managed totally laparoscopically, while one patient (10%) required conversion to open surgery. There were 15 patients (60%) with small bowel perforation. Thirteen of the 15 patients were managed laparoscopically, with the remaining two requiring conversion to open surgery. The average time taken for the procedure was 90 minutes. The mean time to initiate the postoperative peroral liquid diet was 3.4 days. The mean postoperative stay was 6.9 days. The time taken to resume normal activity was 10-12 days. Conclusions Laparoscopic management is feasible and safe for patients with perforative peritonitis. Careful patient selection and the surgeon's experience with the procedure are critical determinants of success.

13.
Cureus ; 13(10): e18828, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34804685

ABSTRACT

BACKGROUND:  Laparotomy (open surgery) is considered the standard approach for acute small bowel obstruction (ASBO). However, with the advent of minimally invasive surgery, the laparoscopic approach is gaining popularity. There is no consensus on the appropriate setting for laparoscopic therapy for small bowel obstruction (SBO). AIM AND OBJECTIVES:  The purpose of this study is to evaluate the outcomes of laparoscopic surgery for ASBO. PATIENTS AND METHODS: We retrospectively evaluated the prospectively collected data of all the 38 patients who had undergone laparoscopy for ASBO, performed by a single surgeon at our institution, due to adhesions (30 patients), internal hernias (five patients), midgut malrotation (one patient), ileo-ileal intussusception (one patient), and superior mesenteric artery (SMA) syndrome (one patient) from 2012 to 2020. Data were extracted from the hospital electronic medical records (EMR) for the following parameters of each individual patient: age, sex, clinical presentation, preoperative investigation findings, final diagnosis, surgical details, operating time, time to postoperative oral feeds, length of hospital stay, complications, recurrences, and time taken to resume normal activity. A preoperative abdominal contrast-enhanced computed tomography (CECT) was performed in all the cases. Patients with peritonitis and septic shock were excluded from the study.  Results: The mean age of the 38 patients was 58 years (ranged between 33 and 83 years) with a standard deviation (SD) of 16.5. The mean age of the female patients in the study was 60.5 years with an SD of 16.6, while the mean age of the male patients was 54.9 years (SD = 16.2). The age difference between male and female patients in the study was not statistically significant (p = 0.36). The mean operating time was 74.4 minutes (range: 60-90 minutes, with an SD of 7.2). The mean time to oral liquid/soft diet was 2.5 days. The mean postoperative stay was 5.7 days. Three patients (8%) underwent conversion to open surgery, out of which two patients had multiple complex bowel-to-bowel and bowel-to-parietes adhesions, and in one patient, massive distension of small bowel caused technical difficulties. CONCLUSION: Laparoscopic management of ASBO is feasible, effective, and safe. Optimum surgical techniques, the surgeon's experience with the procedure, and stringent patient selection criteria enable a high probability of success.

15.
Int J Surg Case Rep ; 85: 106198, 2021 Aug.
Article in English | MEDLINE | ID: mdl-34304087

ABSTRACT

INTRODUCTION: Broad ligament hernia (BLH) is a rare but potentially life threatening condition. One of the two cases described here is the only reported case of BLH in recent literature, where marsupialisation was done. These two case reports comprise the only reported side by side pictorial comparison of the two laparoscopic surgical therapeutic options for BLH. PRESENTATION OF CASES: Both patients presented with classical symptoms and signs of acute intestinal obstruction. Imaging confirmed obstructed left BLH in case 2 and indicated a complete small bowel obstruction in case 1. Both cases were successfully managed laparoscopically. Both patients had an uneventful immediate postoperative recovery and have not had recurrence over a mean follow up period of 34.5 months. DISCUSSION: BLH is rare among all types of internal herniae. It accounts for only 4% of internal herniae and is a difficult condition to diagnose. The advent of computed tomography has increased chances of accurate preoperative diagnosis. CONCLUSION: BLH can be successfully managed by minimally invasive surgery, even in the acute setting. When tightly entrapped bowel is unyielding; it is better not to risk injury to it by aggressive attempts at its reduction. It is safer to attempt widening of the defect into which it is entrapped, whenever feasible.

16.
World J Pediatr Congenit Heart Surg ; 12(3): 320-330, 2021 May.
Article in English | MEDLINE | ID: mdl-33942686

ABSTRACT

BACKGROUND: Branch pulmonary artery (PA) occlusion during patent ductus arteriosus (PDA) stenting procedure is the main reason why branch PA origin stenosis was considered as a contraindication for PDA stenting. This study was designed to assess the incidence of branch PA jailing during PDA stenting for cyanotics with duct-dependent pulmonary circulation and its immediate outcome. METHODS: All the completed PDA stenting patients in our hospital between April 2017 and June 2019 were retrospectively analyzed for branch PA jailing and its outcome. RESULTS: Of 63 completed PDA stenting, there was branch PA jailing in 13 (20.6%) patients, all successfully recruited either by strut dilatation or by surgery. The median duration of ventilation was 16 (interquartile range [IQR]: 8-22) hours for jailed patients and 17.5 (IQR: 5.25-34.25) hours for nonjailed patients (P = .978). Median intensive care unit [ICU] stay was 69 (IQR: 47.75-96) hours for jailed patients and 79.5 (IQR: 66.75-135.25) hours for nonjailed patients (P = .394). Procedural mortality was 1 (7.6%) for jailed patients and 3 (6%) for nonjailed patients. Since all the jailed pulmonary arteries were recruited, there was proportionate growth of branch PA till the most recent follow-up. CONCLUSION: Jailing of branch PA does not increase the ventilation duration, ICU stay, or mortality risk if recruited immediately. Proportionate growth of branch PAs can be achieved in spite of jailing, if addressed aggressively. Branch PA stenosis should not be considered as a contraindication for PDA stenting.


Subject(s)
Ductus Arteriosus, Patent , Pulmonary Artery , Cardiac Catheterization , Ductus Arteriosus, Patent/surgery , Humans , Pulmonary Artery/surgery , Retrospective Studies , Stents , Treatment Outcome
17.
Neuropathol Appl Neurobiol ; 47(6): 736-747, 2021 10.
Article in English | MEDLINE | ID: mdl-33826763

ABSTRACT

AIMS: Application of advanced molecular pathology in rare tumours is hindered by low sample numbers, access to specialised expertise/technologies and tissue/assay QC and rapid reporting requirements. We assessed the feasibility of co-ordinated real-time centralised pathology review (CPR), encompassing molecular diagnostics and contemporary genomics (RNA-seq/DNA methylation-array). METHODS: This nationwide trial in medulloblastoma (<80 UK diagnoses/year) introduced a national reference centre (NRC) and assessed its performance and reporting to World Health Organisation standards. Paired frozen/formalin-fixed, paraffin-embedded tumour material were co-submitted from 135 patients (16 referral centres). RESULTS: Complete CPR diagnostics were successful for 88% (120/135). Inadequate sampling was the most common cause of failure; biomaterials were typically suitable for methylation-array (129/135, 94%), but frozen tissues commonly fell below RNA-seq QC requirements (53/135, 39%). Late reporting was most often due to delayed submission. CPR assigned or altered histological variant (vs local diagnosis) for 40/135 tumours (30%). Benchmarking/QC of specific biomarker assays impacted test results; fluorescent in-situ hybridisation most accurately identified high-risk MYC/MYCN amplification (20/135, 15%), while combined methods (CTNNB1/chr6 status, methylation-array subgrouping) best defined favourable-risk WNT tumours (14/135; 10%). Engagement of a specialist pathologist panel was essential for consensus assessment of histological variants and immunohistochemistry. Overall, CPR altered clinical risk-status for 29% of patients. CONCLUSION: National real-time CPR is feasible, delivering robust diagnostics to WHO criteria and assignment of clinical risk-status, significantly altering clinical management. Recommendations and experience from our study are applicable to advanced molecular diagnostics systems, both local and centralised, across rare tumour types, enabling their application in biomarker-driven routine diagnostics and clinical/research studies.


Subject(s)
Biomarkers, Tumor/genetics , Cerebellar Neoplasms/pathology , Genetic Predisposition to Disease/genetics , Medulloblastoma/pathology , Pathology, Molecular , Adolescent , Cerebellar Neoplasms/genetics , Child , Child, Preschool , Female , Genomics/methods , Humans , Male , Medulloblastoma/genetics , Pathology, Molecular/methods , Exome Sequencing/methods
18.
Int J Surg Case Rep ; 80: 105666, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33636403

ABSTRACT

INTRODUCTION: Cecal endometriosis is an infrequent cause of right iliac fossa pain. The extra-uterine retroperitoneal cellular leiomyoma is a rare tumor. The concurrent existence of both these rare conditions is a unique event. PRESENTATION OF CASE: We hereby report the case of a 44-year-old woman who had concurrent large isolated cecal endometrioma, which was diagnosed pre-operatively on imaging to be pelvic endometriosis/hematosalpinx and solitary retroperitoneal cellular leiomyoma, which was incidentally identified. Both the conditions were managed successfully by laparoscopy. DISCUSSION: Cecal endometriosis is difficult to diagnose pre-operatively as there are far commoner clinical conditions that cause similar signs and symptoms. Often it gets mistaken for these conditions and gets diagnosed incidentally 'on table' during surgeries being performed purportedly to treat them. CONCLUSION: Although definitive diagnosis can only be obtained after histopathology, laparoscopy can be considered a standard diagnostic modality for both these conditions.

19.
J Neurosurg Case Lessons ; 1(26): CASE21146, 2021 Jun 28.
Article in English | MEDLINE | ID: mdl-35854906

ABSTRACT

BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) within the neuroaxis are rare, usually arising from peripheral and cranial nerves. Even more scarce are cranial subclassifications of MPNSTs termed "malignant intracerebral nerve sheath tumors" (MINSTs). These tumors are aggressive, with a strong tendency for metastasis. With this presentation, alongside resistance to adjunctive therapy, complete excision is the mainstay of treatment, although it is often insufficient, resulting in a high rate of mortality. OBSERVATIONS: The authors report the case of an adult patient with a history of Noonan syndrome (NS) presenting with slowly progressive right-sided hemiparesis and right-sided focal motor seizures. Despite initial imaging and histology suggesting a left frontal lobe high-grade intrinsic tumor typical of a glioblastoma, subsequent molecular analysis confirmed a diagnosis of MINST. The patient's neurological condition improved after gross-total resection and adjuvant chemo-radiation; he remains on follow-up. LESSONS: MINSTs are rare neoplasms with a poor prognosis; management options are limited, with surgery being the cornerstone of treatment. Reports on rare tumors such as this will increase awareness of this particular pathology and disclose clinical experience. In this case, the authors were unable to establish a definite cause-and-effect relation between NS and MINST. Nevertheless, it remains the first reported case in the literature.

20.
J Family Med Prim Care ; 10(11): 4293-4298, 2021 Nov.
Article in English | MEDLINE | ID: mdl-35136805

ABSTRACT

Primary retroperitoneal cysts (RPCs) are a rare surgical entity and are mostly detected incidentally. Usually, they are asymptomatic. At times, they may attain a huge size and may present with a large abdominal lump. Often, they pose a dilemma at diagnosis and for management. Though the laparoscopic approach has been described for their surgical excision, open surgery is still the preferred approach. We herein present a case of a voluminous retroperitoneal pelvic cystic mass in a 40-year-old female, which was diagnosed as hydrosalpinx on a magnetic resonance imaging scan. The patient was referred to us by the specialist in gynecologic laparoscopy after the incidental discovery of the RPC during his surgical intervention, purportedly for large hydrosalpinx. At our hospital, 4 days after the above intervention, she underwent laparoscopic complete excision of the cyst. Her postoperative recovery was uneventful and she was discharged on postoperative day 3 without any complications. Histopathology was suggestive of Mullerian inclusion cyst. This case report aims to share a rare case of a large primary retroperitoneal pelvic cystic lesion, which caused a diagnostic challenge preoperatively but was eventually managed successfully, laparoscopically.

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