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Articles published on Palpable Abdominal Mass
- New
- Research Article
- 10.1002/vrc2.70252
- Nov 3, 2025
- Veterinary Record Case Reports
- Toshiyuki Tanaka + 2 more
Abstract An 8‐year‐old, entire, female Boston terrier presented with chronic abdominal distention and acute anorexia. Physical examination identified a palpable abdominal mass and ascites. Results of haematological and serum biochemical investigations were within reference range. Fluid analysis from abdominocentesis was consistent with an exudate with abundant macrophages. Computed tomography and magnetic resonance imaging revealed that the mass was ovarian in origin without apparent metastasis. Ovariohysterectomy was performed. Thereafter, the patient's ascites did not reaccumulate. Histopathological diagnosis of the mass was a granulosa cell tumour. Repeated tumour staging with computed tomography was performed up to 36 months after surgery, which confirmed no local disease recurrence, metastasis or ascites.
- Research Article
- 10.1016/j.sempedsurg.2025.151562
- Oct 9, 2025
- Seminars in pediatric surgery
- Alexa G Turpin + 2 more
An overview of malignant ovarian tumors in children.
- Research Article
- 10.18678/dtfd.1705026
- Oct 1, 2025
- Duzce Medical Journal
- Nadide Melike Sav + 5 more
Denys-Drash syndrome (DDS) is a rare autosomal dominant disorder characterized by genital abnormalities, nephropathy, and Wilms’ tumor (WT), typically caused by heterozygous mutations in the Wilms’ tumor suppressor 1 (WT1) gene. Here, a 2-year-old male admitted with fever and abdominal pain was presented. Physical examination revealed ambiguous genitalia and a palpable abdominal mass. Imaging identified a heterogeneous mass in the left kidney, consistent with WT. Genetic analysis detected a novel heterozygous frameshift mutation in exon 8 of the WT1 gene [p.H245Tfs*2 (c.1393delC)]. WT is the most common renal tumor in children and is frequently associated with WT1 gene mutations in DDS. Given the early onset and severity of symptoms, early genetic screening for WT1 gene mutations should be considered in patients admitted with ambiguous genitalia and nephrotic syndrome. This case contributes to the understanding of WT1 gene mutations and highlights the importance of molecular analysis in children with genitourinary anomalies.
- Research Article
- 10.16899/jcm.1699324
- Sep 30, 2025
- Journal of Contemporary Medicine
- İlknur Banlı Cesur + 3 more
Abstract Background/Aims: Neuroblastoma (NB) is an embryonal neuroendocrine tumor of the peripheral nervous system. It is the most common extracranial solid tumor of childhood and the most common in the first year of life.It has a variable course ranging from a benign course to a fatal disease Methods: Forty patients under the age of 18 who underwent surgical resection in our center due to neuroblastoma between January 2012 and December 2021 were included in to the study. Demographic data of the patients, preoperative cross-sectional and functional imaging, surgical procedures, surgical complications and pathological staging were analyzed retrospectively. Results: In this retrospective study, 48 patients were analyzed. Of 48 patients 52.5% were male and 47.5% were female. palpable abdominal mass detected in 82.5% of the patients. 0 patients were neuroblastoma, 10 patients were ganglioneuroblastoma, and 8 patients were ganglioneuromas. Eight patients with ganglioneuroma were excluded from the study. Analysis was performed among 40 patients. Conclusions: NB is heterogeneous in clinical behavior. It is treated by the pediatric surgeon with minimal complications, taking into account the stage of the disease, the age of the patient, and risk factors. Since the tumor originates from the sympathetic nervous system and invades surrounding large vessels and surrounding tissues, aggressive chemotherapy and local regional radiotherapy may be required after surgery. It may be possible to avoid serious complications by customizing the surgery.
- Research Article
- 10.1186/s43054-025-00440-0
- Sep 29, 2025
- Egyptian Pediatric Association Gazette
- Bipitha Baby + 3 more
Abstract Background Intussusception is a significant paediatric emergency requiring timely diagnosis and management. This study aims to analyse the clinical features, treatment modalities, and outcomes of intussusception cases at a tertiary care centre in South Kerala, India over a 15-year period, with special focus on spontaneous reduction and its clinical predictors. Methods A retrospective analysis was conducted on 601 cases of intussusception from 2007 to 2022, reported to a tertiary care centre in South Kerala, India. Data collected included demographics, clinical features at presentation, and treatment modalities: spontaneous reduction, saline hydrostatic reduction (SHR), and surgical intervention. Statistical analyses were performed to identify factors associated with spontaneous reduction, successful SHR, and the need for surgery. Results The study population comprised 61.1% males and 38.9% females, with a mean age of 23.58 months. Typical cry (99.3%), poor feeding (88.4%), and vomiting (77.7%) were the most frequent clinical features. Spontaneous reduction occurred in 18.8% of cases. SHR was attempted in 80.0% of cases, with a success rate of 94.2%. Surgical intervention was required in 5.8% of cases. Older age (> 2 years), absence of vomiting, absence of red stools, absence of a palpable abdominal mass, and presence of enteritis were associated with spontaneous reduction. The absence of red stools and female gender were associated with successful SHR. The presence of vomiting, red stools, and a palpable abdominal mass were associated with the need for surgical intervention. Conclusion Recognizing predictors of spontaneous reduction—older age (> 2 years), absence of red stools/vomiting, absence of palpable abdominal mass and enteritis—can guide conservative management, reducing unnecessary procedures. Early recognition and timely intervention significantly increase the likelihood of non-operative management success. Incorporating these predictors into triage protocols may reduce surgical rates and improve outcomes.
- Research Article
- 10.2174/0115733947409074250901073455
- Sep 8, 2025
- Current Cancer Therapy Reviews
- Bandit Chumworathayi
Introduction: There has been only one reported case of low-grade serous ovarian cancer successfully treated with cannabis oil. This case is the second, but of the high-grade serous type. Case Presentation: A female patient in her 40s was referred to our clinic with a 1-month history of a palpable abdominal mass. The patient had previously undergone complete surgery in December 2018. Pathological examination revealed high-grade serous carcinoma of the right ovary, stage 2A. Adjuvant chemotherapy (carboplatin + paclitaxel: PT) was administered for six cycles. Two years after surgery, the patient experienced her first recurrence (2×3 cm) on the left side of the rectal serosa, as detected by computerized tomography of the whole abdomen (CTWA). Second-line PT was given, and a complete response (CR) was achieved. Three years after surgery, the patient had a second recurrence (2.6 cm) at the exact same location. She refused further chemotherapy but was aware of a reported case of low-grade serous ovarian cancer treated with cannabis oil. As an alternative to chemotherapy, treatment with cannabis oil was initiated. We started tetrahydrocannabinol (THC)/cannabidiol (CBD) 1:1 cannabis oil therapy with 1 drop sublingually (SL) at bedtime (hs). This resulted in a decrease in CA125 levels without any concurrent chemotherapy. Four years after surgery, the patient again showed rising CA125 levels. However, stable disease (SD) was confirmed (2.7 cm at that time), and the cannabis oil dosage was increased to 2 drops SL at bedtime. Conclusion: This case demonstrates that cannabis oil shows inhibitory effects on recurrent highgrade serous epithelial ovarian cancer.
- Research Article
- 10.3390/jcm14155416
- Aug 1, 2025
- Journal of clinical medicine
- Agostino Fernicola + 16 more
Background: Abdominal wall endometriosis (AWE) is a rare pathological condition that mostly occurs in the post-cesarean section. This study aimed to describe the surgical approach employed in treating 31 patients at our center over the past decade and compare the outcomes with those reported in scientific literature. Methods: We retrospectively evaluated the data of 31 patients with a cesarean section history who underwent surgery for AWE excision between 1 November 2012, and 31 January 2023, at the University of Naples Federico II, Italy. Subsequently, we reviewed the scientific literature for all AWE-related studies published between 1 January 1995, and 31 July 2024. Results: Most women presented with a palpable abdominal mass (90.3%) at the previous surgical site associated with cyclic abdominal pain (80.6%) concomitant with menstruation. All patients underwent preoperative abdominal ultrasound and magnetic resonance imaging, 71% underwent computed tomography, and 32.2% received ultrasound-guided needle biopsies. Furthermore, 90.3% and 9.7% had previous Pfannenstiel and median vertical surgical incisions, respectively. All patients underwent laparotomic excision and abdominal wall reconstruction, with prosthetic reinforcement used in 73.5% of cases. No recurrent nodules were detected in any patient at the 12-month follow-up. Conclusions: AWE should be suspected in women with a history of cesarean section presenting with palpable, cyclically painful abdominal mass associated with the menstrual cycle. Preoperative ultrasound and magnetic resonance imaging are essential, and surgical excision must ensure clear margins. Abdominal wall reconstruction should include prosthetic reinforcement, except when the defect is minimal (≤1.5 cm). An ultrasound follow-up at 12 months is recommended to confirm the absence of recurrence.
- Research Article
- 10.30574/gscarr.2025.24.1.0199
- Jul 30, 2025
- GSC Advanced Research and Reviews
- Grace Perez + 9 more
Wilms' tumor (WT) (nephroblastoma) is a childhood renal neoplasm encountered rarely in adults. Although radiological imaging is an excellent tool for diagnosis in most cases, histomorphologic diagnosis can be challenging, especially with limited sampling, which may result in the potential absence of one of the three histological components. In addition, the rare occurrence in adults makes it less likely to be included in the differential diagnosis of an adult presenting with a renal mass. We report a case of a 21-year-old woman who presented with a left abdominal palpable mass, eventually diagnosed with an adult Wilms tumor (AWT). Following the Children's Oncology Group (COG) protocol, the patient underwent total left nephrectomy. The histological features were classic triphasic, with blastemal (40%), epithelial (45%), and stromal (15%) components, and occasional foci of anaplasia, which were not sufficient to classify it as an anaplastic subtype. The patient had adjuvant chemotherapy with Dactinomycin and Doxorubicin and initially responded well to treatment. Nine months after nephrectomy, pulmonary and liver metastases were found. Surgical treatment was not possible due to the high tumor burden in the lung and the liver. Chemotherapy, including Vincristine, Dactinomycin, and Doxorubicin, was initiated, resulting in a favorable clinical response. The patient was disease-free at the last follow-up, 26 months after treatment. This case highlights the diagnostic and therapeutic challenges associated with AWTs. We provide a brief review of the literature, including history, clinical presentation, diagnosis, and treatment. We also discuss the potential benefits of diagnosing and treating AWTs with current technological advancements.
- Research Article
- 10.18203/2349-3291.ijcp20252227
- Jul 24, 2025
- International Journal of Contemporary Pediatrics
- Shorya Katiyar + 5 more
Trichobezoars are rare gastrointestinal obstructions caused by the accumulation of ingested hair. They are most commonly found in adolescent females with underlying psychiatric disorders such as trichotillomania and trichophagia. If left untreated, trichobezoars can lead to severe complications, including gastric outlet obstruction, perforation and Rapunzel syndrome. This study presents case data and the surgical management of pediatric trichobezoars, emphasizing diagnostic challenges and post-treatment psychiatric follow-up and complication management. A retrospective review was conducted on seven pediatric cases of trichobezoars treated at our institution from 2021 to 2025. Demographic data, clinical presentation, imaging findings, endoscopic trials, surgical approach and postoperative outcomes were analysed. All seven cases involved female patients aged 5 to 15 years, presenting with varying degrees of abdominal pain, weight loss, nausea and palpable abdominal masses. Four cases had gastric trichobezoars, while two had ileal extensions (Rapunzel syndrome). Endoscopic retrieval was attempted in one case but failed, necessitating surgical intervention. Surgery was performed in all except one case, followed by gastrotomy or enterotomy for bezoar removal. Last trichobezoar was removed with robotic assistance. Postoperatively, all patients were referred for psychiatric evaluation. Trichobezoars should be considered in pediatric patients presenting with unexplained abdominal complaints and a history of trichophagia. Imaging plays a critical role in diagnosis and while endoscopic retrieval may be attempted, most cases require surgical intervention. A multidisciplinary approach involving pediatric surgery, gastroenterology and psychiatry is essential to prevent recurrence with meticulous management of post-operative complications.
- Research Article
- 10.51253/pafmj.v75i3.11816
- Jun 30, 2025
- Pakistan Armed Forces Medical Journal
- Rabiha Manzoor + 5 more
Objective: To determine the survival outcome of patients with hepatoblastoma (HB) treated at a tertiary care hospital of Pakistan. Study Design: A prospective cohort study. Place and Duration of Study: Pediatric oncology unit, Combined Military Hospital, Rawalpindi Pakistan from Jan 2013 to Dec 2023. Methodology: All cases of hepatoblastoma (HB) diagnosed in individuals aged up to 12 years were enrolled. The study primarily focused on documenting survival outcomes, encompassing both "overall survival (OS)" and "disease-free survival (DFS). Results: In a total of 29 patients with HB, 18(62.1%) were boys. The median age at the time of diagnosis was 1.3 years (0.8 to 2.8 years). At presentation, abdominal distension was present in all 29(100%) cases whereas palpable abdominal mass, and jaundice was present in 25(86.2%), and 9(31.0%) patients, respectively. Mortality was reported in 14(48.3%) patients. The median DFS, and OS were 18.64 months (5.27 to 47.04 months), and 0.13 months (0 to 44.00 months), respectively. Surgery emerged as a significant predictor of mortality, with a striking 15.89 times higher odds of mortality if surgery was not performed (95% CI: 1.71-147.39, p=0.015). Overall, 8-year survival was 50.0%. Eight year cumulative DFS was 59.3% for standard risk, 44.4% for high risk, and 26.7% for very high risk patients. OS was 60.0% for standard risk, 44.4% for high risk, and 40.0% for very high risk patients. Conclusion: Hepatoblastoma is a rare pediatric cancer. A very high relapse/refractory rate needs further investigation to determine the cause of failure of the treatment.
- Research Article
- 10.1007/s00404-025-08009-3
- Jun 24, 2025
- Archives of gynecology and obstetrics
- Brunialti Daniela + 1 more
This study aimed to review the literature with regard to the management and outcome in pregnant and postpartum females with wandering spleen. The literature was reviewed for articles regarding the following search terms: 'pregnancy', 'postpartum', 'torsion' and 'wandering spleen'. 17 articles were found in medical literature from 1907 to 2022. Case reports were divided up into 2 groups: antepartum group that counts 12 articles and the postpartum group with 5 articles. The median age of these females was 28 years. All patients had symptoms across both groups: abdominal pain (n=13), vomiting (n=5), thrombocytopenia (n=4), nausea (n=3) and thrombocytosis (n=2). 16 patients underwent splenectomy and 1 pregnant woman received conservative management during pregnancy. 15 patients had no post-operative complications. 1 woman had an incomplete abortion in the 1 st trimester and 1 female a stillbirth in the 3 rd trimester. Wandering spleen in pregnancy and in puerperium is a rare condition with many different possible manifestations. Up to now literature has favored laparoscopic or open splenectomy as treatment for it. From asymptomatic patients to urgent and emergent cases, the diagnosis of a wandering spleen must be included when a pregnant or postpartum woman complains about an abdominal palpable mass and recurrent abdominal pain.
- Research Article
- 10.1177/03000605251350626
- Jun 1, 2025
- The Journal of international medical research
- Hai-Yan Sun + 3 more
Complete androgen insensitivity syndrome is a rare 46,XY disorder of sex development caused by mutations in the androgen receptor gene, resulting in androgen resistance despite a normal male karyotype. Individuals with complete androgen insensitivity syndrome typically present with female external genitalia, primary amenorrhea, and a heightened risk of gonadal germ cell tumors. Herein, we report the case of a 30-year-old woman who was diagnosed with complete androgen insensitivity syndrome at 18 years of age during evaluation for primary amenorrhea. Chromosomal analysis revealed a 46,XY karyotype, and imaging confirmed the absence of a uterus and ovaries. Despite medical advice for prophylactic gonadectomy, the patient delayed surgery and later presented with a palpable abdominal mass. Genetic analysis identified a novel hemizygous germline missense mutation, c.1768G>T (p.G590W), in exon 2 of the androgen receptor gene, which was classified as potentially pathogenic based on the American College of Medical Genetics and Genomics criteria. The patient underwent tumor resection followed by four cycles of bleomycin, etoposide, cisplatin chemotherapy regimen for advanced seminoma and has remained disease-free during follow-up. This case underscores the importance of genetic analysis, early prophylactic gonadectomy, and multidisciplinary care in managing complete androgen insensitivity syndrome to mitigate tumor risk and optimize outcomes.
- Research Article
- 10.5272/jimab.2025312.6224
- May 22, 2025
- Journal of IMAB - Annual Proceeding (Scientific Papers)
- Diana Hristova + 4 more
Ovarian tumors in children before puberty are rare and usually non-malignant. Granulosa cell tumors are rare sex cord-stromal tumors, accounting for 5% of all ovarian tumors and occur mainly in premenarchal girls and in women younger than 30 years. The diagnosis is based on the presence of precocious puberty, advanced bone age, palpable abdominal mass, nonspecific abdominal pain and abdominal swelling, vaginal discharge. In adolescent, it manifests with signs of menstrual irregularity and virilization. This is a case report of a 5-year-old Bulgarian patient with clinical and paraclinical findings of peripheral precocious puberty who underwent unilateral salpingo-oophorectomy after US and MRI was performed. From the performed imaging studies, Juvenile granulosa cell tumors was suspected. Histological findings confirmed the primary diagnosis – Granulosa cell tumor of juvenile type and TMN staging was: pT1a. It was decided not to perform adjuvant chemotherapy in view of the stage of the tumor process according to existing algorithms and the decision of the oncology committee. Generally, the prognosis is good. The most important prognostic factor associated with a higher risk of relapse is the stage of disease. Prolonged surveillance is essential in the described case because the disease tends to recur years after the initial diagnosis.
- Research Article
- 10.51271/jrm-0029
- Apr 26, 2025
- Journal of Radiology in Medicine
- Nisa Başpınar + 3 more
Gastric teratomas are rare intra-abdominal tumors. They are frequently seen in the neonatal period. A palpable mass is the most common clinical sign. Although radiologic imaging plays a role in diagnosis, in most cases the final diagnosis is made by histopathologic examination. In this report, we present a newborn male patient diagnosed with immature gastric teratoma. A male infant was referred to the clinic due to bloating and a palpable abdominal mass. Ultrasonography revealed a complex solid cystic mass in the abdominal and pelvic region. Magnetic resonance imaging was recommended. MRI revealed a multilocular, multiseptated, complex lesion. Given the radiologic findings, a gastric teratoma was suspected. The patient underwent surgery. On histopathologic examination, an immature grade 3 teratoma was diagnosed. Gastric teratomas are extremely rare tumors and must be considered in the differential diagnosis of abdominal masses during the neonatal and infant period.
- Research Article
- 10.36283/ziun-pjmd14-2/043
- Apr 13, 2025
- Pakistan Journal of Medicine and Dentistry
Background: Intussusception is a significant cause of pediatric intestinal obstruction that requires rapid intervention. While ultrasound-guided hydrostatic reduction is the standard treatment in developed healthcare systems, its availability is limited in resource-limited settings. This study evaluated the efficacy and safety of non-sonographic-guided hydrostatic reduction for the treatment of pediatric intussusception in a resource-limited setting in Pakistan. Methods: A prospective descriptive case series study was conducted between January 2022 and January 2024 at Timergara Teaching Hospital involving 120 children aged 6 months to 3 years with ultrasound-confirmed acute ileocolic intussusception. A consecutive sampling technique was used to include all eligible patients during the study period. Success rates were analyzed for different age groups and symptom durations. Data analysis was conducted using IBM SPSS Statistics v20.0. Continuous variables were presented as mean ± SD or median (IQR), while categorical variables were shown as frequencies and percentages. Chi-square tests analyzed categorical data, and stratification by age, symptom onset, clinical signs, and vital signs minimized confounders. Statistical significance was set at p < 0.05. Results: The overall success rate of hydrostatic reduction was 90.0% (n=108). Male patients accounted for 68 (56.7%) cases. The highest success rates were observed in children aged 7-12 months (n= 45; 91.8%) and in cases treated within 6-12 hours of symptom onset (n= 67; 95.7%). Success rates decreased significantly with increasing duration of symptoms, dropping to 10 (76.9%) cases treated after 24 hours (p=0.035). The most common symptoms were abdominal pain (n=112; 93%), fever (103; 86%), and a palpable abdominal mass (95; 79%). Conclusion: Non-sonographic guided hydrostatic reduction is a highly effective treatment for uncomplicated pediatric intussusception in resource-limited settings, especially when performed within 12 hours of symptom onset. Early intervention is critical for optimal outcomes.
- Research Article
- 10.37275/bsm.v9i6.1300
- Mar 19, 2025
- Bioscientia Medicina : Journal of Biomedicine and Translational Research
- Dita Novia Wulansari + 2 more
Background: Choledochal cysts (CCs) are rare congenital anomalies of the biliary tree, characterized by cystic dilation of the intrahepatic and/or extrahepatic bile ducts. While the classic triad of abdominal pain, jaundice, and a palpable abdominal mass is well-described, the presentation in infants can be subtle and often involves diagnostic and surgical challenges. This case report describes a rare presentation of a Todani Type 1 choledochal cyst in a six-month-old infant who presented primarily with abdominal distension, highlighting the diagnostic pathway and surgical management. Case presentation: A six-month-old female infant presented with a two-month history of progressive abdominal distension. There was a history of pale stools at two months of age that lasted for one week. Physical examination revealed a well-nourished infant with icteric skin and sclera and a distended abdomen with a palpable, mobile mass measuring 7x5 cm. Laboratory investigations revealed hyperbilirubinemia and elevated liver enzymes. Abdominal ultrasound and subsequent CT scan with contrast confirmed the presence of a Todani Type 1 choledochal cyst. The infant underwent successful surgical excision of the cyst and Roux-en-Y hepaticojejunostomy. The postoperative period was uneventful, and the patient was discharged in stable condition. Follow-up at one month showed good recovery and no signs of complications. Conclusion: This case highlights an atypical presentation of a Todani Type 1 choledochal cyst in a young infant, where the primary symptom was abdominal distension rather than the classic triad. Early diagnosis through imaging modalities like ultrasound and CT scan, followed by complete surgical excision and Roux-en-Y reconstruction, resulted in a favorable outcome. This case underscores the importance of considering choledochal cysts in the differential diagnosis of abdominal distension in infants, even in the absence of jaundice or pain.
- Research Article
- 10.2478/amb-2025-0013
- Mar 1, 2025
- Acta Medica Bulgarica
- G Gaggero + 3 more
Abstract Aim and subject. Sclerosing mesenteritis is a rare non-tumoral disease that usually affects the small intestine.Several etiological hypotheses have been proposed (external or surgical trauma, autoimmunity, neoplasia). Clinical case description and main results. We describe the autopsy case of a 66-year-old woman who presented to hospital unconscious with a palpable abdominal mass. The patient underwent abdominal CT, which revealed a mass involving the transverse colon and mesocolon with non-pathognomonic features, but with a strong suspicion of neoplasia. However, the patient died quickly, before a biopsy could be performed. The only prominent finding at autopsy was a transverse colonic wall mass associated with colic perforation and mucosal hyperplasia. Histology revealed sclerosing mesenteritis after a thorough microscopic and immunohistochemical investigation of possible differential diagnoses. Conclusions. There are three types of sclerosing mesenteritis, depending on the fibrous component, and the case described is an example of retractile mesenteritis (preponderant fibrosis). A mini-review of the Pubmed database shows that the different ways of referring to this disease make it difficult to search, but a total of 213 cases appear to be published so far. Overall, the location, clinical presentation and macroscopic findings of our case represent a true rarity.
- Research Article
- 10.53126/mebxxviiim56
- Feb 28, 2025
- Medico e Bambino Pagine elettroniche
- Rossana Sara Lauriola + 2 more
An otherwise healthy 16-year-old girl was brought to the emergency department due to persistent fatigue and microcytic anaemia. Upon physical examination in the emergency department, a palpable abdominal mass of firm consistency was found. For this reason, an ultrasound and a CT scan were performed, revealing a large mass of ovarian origin. Therefore, the patient was admitted for further investigations: blood exams showed elevated ovarian tumour markers and a gynecological evaluation was performed. The patient underwent annessectomy with omentectomy procedure via laparotomy. The histological result was compatible with FIGO stage IIIA dysgerminoma. Dysgerminoma is a rare ovarian tumour in paediatric age. Diagnosis is clinical, radiological, and laboratory-based and should be suspected in the presence of a rapidly growing abdominal mass associated with menstrual irregularities. It is an ovarian tumour with a favourable prognosis in most of the cases; indeed, it is aggressive only in 1/3 of cases. Treatment is primarily based on surgery, mostly conservative in early stages, while adjuvant chemotherapy to surgery is indicated in advanced stages.
- Research Article
- 10.47191/ijmscrs/v5-i02-22
- Feb 21, 2025
- International Journal of Medical Science and Clinical Research Studies
- Pontes, A C R + 2 more
Introduction: Herlyn-Werner-Wunderlich Syndrome (HWWS) is an embryological malformation that damages the urinary and genital systems. It may have clinical repercussions as progressive dysmenorrhea and compromise the patient’s obstetric future, with occurrence of severe endometriosis and infertility. Case Report: A patient, 18 years old, admitted for an amniotic fluid loss complaint. She demonstrated a previous diagnosis of HWWS during anamnesis, which was previously discovered and surgically adjusted 4 years earlier, through a hysteroscopic vaginal septoplasty. The patient needed an obstetric admission due to a clinical diagnosis of Prelabor Rupture of Ovular Membranes (PROM), with abdominal delivery after 5 days due to the development of severe preeclampsia. The procedure had no intercurrence, alongside the birth of the conceptus in good clinical conditions. Discussion: The patients who carry that rare syndrome have didelphys uterus, low genital obstruction and unilateral renal agenesis. When the genital obstruction is complete, the symptoms are often more glaring, producing palpable and painful abdominal mass because of the hematocolpos. Regardless of the anatomic space, the retained flow is susceptible to infections and may cause abdominal sepsis. Furthermore, the patient can acquire infertility for the higher risk of endometriosis or for the anatomic distortions. The cirurgical adjustment is associated with good pregnancy rates and should always be suggested to those patients. Conclusion: Considering the serious repercussions to the life quality of those patients, the Herlyn-Werner-Wunderlich Syndrome (HWWS) should always be present in differential diagnosis of a specialist doctor’s routine. The premature diagnosis leads to a necessary adjustment and contributes to positive and favorable results in the reproductive life of such patients.
- Research Article
- 10.47895/amp.vi0.9091
- Jan 31, 2025
- Acta Medica Philippina
- Danna Mae S Opiso + 2 more
Background and ObjectiveCholedochal cysts (CC) are rare congenital, cystic dilations of the biliary tree occurring predominantly in Asian populations and in females. Patients are usually children presenting with any of the following: abdominal pain, palpable abdominal mass, and jaundice. Its congenital nature hints at a potential genetic cause. A possible causal gene is TP53, a tumor suppressor with a germline variant called rs201753350 (c.91G>A) that changed from a G allele to an A allele, decreasing the cell proliferation suppressing activity of its functional protein. Currently, there is no information on the TP53 rs201753350 germline variant available for the Filipino population. This study determined the prevalence of rs201753350 and the association between the functional G allele, the rs201753350 germline variant A allele, and the occurrence of CCs in Filipino pediatric patients in a tertiary government hospital.MethodsGenomic DNA was extracted from blood samples of pediatric patients clinically diagnosed with CC. Controls were DNA samples collected from a previous study. The samples underwent PCR, electrophoresis, and sequencing.ResultsA total of 109 participants (22 cases and 87 controls) were included in the study. The A allele (22.94%) occurs at a lower frequency than the G allele (77.06%) among both cases and controls. More individuals have a homozygous G/G genotype (54.13%) than a heterozygous A/G genotype (45.87%) while the homozygous A/A genotype was not observed. The estimated risk of choledochal cyst occurrence is significantly lower in individuals with the A allele (PR: 0.08, 95% CI: 0.01 – 0.55) and the A/G genotype (PR: 0.06, 95% CI: 0.01 – 0.40).ConclusionThere is no significant evidence to suggest an association between the TP53 rs201753350 germline variant and the occurrence of choledochal cysts in Filipinos. It is recommended that other mutations within and beyond the TP53 gene be investigated for possible associations with choledochal cyst occurrence.