Journal of Pediatric Surgery Case Reports最新文献

{"title":"Intraoperative diagnosis of rare pediatric internal hernias: A case series","authors":"Spencer E. Kim ,&nbsp;William R. Johnston ,&nbsp;Rosa Hwang ,&nbsp;Gary W. Nace","doi":"10.1016/j.epsc.2025.102983","DOIUrl":"10.1016/j.epsc.2025.102983","url":null,"abstract":"<div><h3>Introduction</h3><div>Internal hernias are a rare but serious condition in pediatric patients. Even with a thorough preoperative imaging workup, distinguishing them from other causes of bowel obstruction is challenging. This case series presents three patients with internal hernias of varying etiologies and complexity that were not diagnosed until intraoperative exploration.</div></div><div><h3>Case series</h3><div>Case 1 is a previously healthy 11-year-old boy with new-onset abdominal pain and emesis who was found to have a strangulated segment of small bowel herniated through a small congenital mesenteric defect. Case 2 is a 3-year-old boy with constipation presenting with acute-on-chronic abdominal pain. He was found to have a hernia sac formed from an abnormal attachment of omentum to the retroperitoneum, which contained segments of small and large bowel. Case 3 is a 23-year-old female with ataxia-telangiectasia-like syndrome and dystonia with a gastrostomy tube who presented with emesis and reflux. Surgical exploration revealed a highly unusual internal hernia through the hepatoduodenal and transverse mesocolon, through which the entire small bowel and majority of the transverse colon were herniated. None of these internal hernias were diagnosed with preoperative imaging. All patients underwent successful internal hernia repair with resolution of abdominal symptoms and have not required additional surgical workup.</div></div><div><h3>Conclusion</h3><div>Frequently, the diagnosis of an internal hernia is difficult to define preoperatively and is only made at the time of surgical exploration. Although internal hernias are rare, they should remain on the differential in pediatric and young adult patients presenting with signs of acute and/or chronic bowel obstruction.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"116 ","pages":"Article 102983"},"PeriodicalIF":0.2,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143684586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Povidone-iodine pleurodesis for congenital chylothorax in an infant: A case report","authors":"Citra Cesilia ,&nbsp;Riky Candra ,&nbsp;Hariadi Hatta ,&nbsp;Nurhasanah ,&nbsp;Muhammad Afdhal ,&nbsp;Mutiara Arcan","doi":"10.1016/j.epsc.2025.102982","DOIUrl":"10.1016/j.epsc.2025.102982","url":null,"abstract":"<div><h3>Introduction</h3><div>Chylothorax in infants can be classified into five types: congenital, traumatic, postoperative, embolic, and spontaneous, the last one being the most common one. Its etiology is not fully understood, it has a relatively high mortality rate, and there are no standardized guidelines regarding its treatment.</div></div><div><h3>Case presentation</h3><div>A I-month-old infant presented with worsening shortness of breath, without fever or any signs of an airway infection. A chest X-ray revealed a large right pleural effusion causing mediastinal shift. The fluid was drained with a 7Fr central venous catheter placed in the right pleural cavity and left as a chest tube. The fluid that was drained had a milky appearance, suggestive of chylothorax. Fluid analysis confirmed elevated triglycerides. The patient was initially managed with total parenteral nutrition (TPN). The chest tube drained several hundred milliliters per day. On the fifth day of hospitalisation, we initiated a plan of chemical pleurodesis using a combination of 2 mL of povidone-iodine, 2 mL of lidocaine, and 8 mL of normal saline, administered through the chest drain. The chest tube was clamped and the patient rotated frequently. The chest tube was clamped for about an hour and undamped thereafter. The procedure was repeated every other day, the last one being on the twelfth day of hospitalisation. The output of the chest tube decreased rapidly, and the chest tube was removed on the fifteenth day of hospitalisation. The patient was discharged after seventeen days of hospitalisation with near complete resolution of the chylothorax.</div></div><div><h3>Conclusion</h3><div>Chemical pleurodesis with povidone-iodine seems to be an effective management option for infants with congenital chylothorax.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"116 ","pages":"Article 102982"},"PeriodicalIF":0.2,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143619308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fibrous hamartoma of infancy associated to hyperhidrosis: A case report","authors":"Bianca Aceto,&nbsp;Daniele Di Meglio,&nbsp;Giuliana Di Martino,&nbsp;Maria Capasso,&nbsp;Maria Giovanna Grella,&nbsp;Pietro Pirisi","doi":"10.1016/j.epsc.2025.102981","DOIUrl":"10.1016/j.epsc.2025.102981","url":null,"abstract":"<div><h3>Introduction</h3><div>Fibrous hamartoma of infancy (FHI) is a rare benign soft tissue tumor, and its association with local hyperhidrosis has only been reported anecdotally.</div></div><div><h3>Case presentation</h3><div>A 1-year-old healthy girl presented with a mass localized in the sacrococcygeal region associated to hypertrichosis and skin discoloration, non-tender on palpation. Ultrasound (U/S) revealed a predominantly hypoechogenic 42 × 14 mm lesion with hyperechogenic tissue. A magnetic resonance imaging (MRI) revealed a 7.4× 4.4 cm superficial soft tissue lesion with heterogeneous contrast enhancement involving the subcutaneous and cutaneous layers, extending to the underlying muscular fascia. The patient first underwent an incisional biopsy. Microscopic examination revealed the characteristic triphasic lesion, consistent with the morphological and immunophenotypic features of FHI. We followed the lesion clinically and with interval U/S and MRI. The lesion gradually increased in size, being approximately 8.6 × 10 cm by MRI one year after the diagnosis. At that time, it was accompanied by profuse hyperhidrosis of the overlying skin, which caused distress on the parents and caretakers. A complete surgical excision was then performed. She recovered well from the operation and at 11 months of follow up has no signs of recurrence.</div></div><div><h3>Conclusion</h3><div>Although rare, FHI can be associated with localized profuse hyperhidrosis. Complete surgical excision, if possible, should be considered in cases of debilitating hyperhidrosis.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"116 ","pages":"Article 102981"},"PeriodicalIF":0.2,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143628532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Type IV sacrococcygeal teratoma with intraspinal extension treated surgically through an anterior-posterior-anterior approach: A case report","authors":"Mouna Zaghedane ,&nbsp;Vladimir Gomola ,&nbsp;Jean-louis Lemelle ,&nbsp;Anthony Joud","doi":"10.1016/j.epsc.2024.102888","DOIUrl":"10.1016/j.epsc.2024.102888","url":null,"abstract":"<div><h3>Introduction</h3><div>Sacrococcygeal teratomas with intraspinal involvement are rare. To our knowledge, there is only one reported case specifically of a type-IV sacrococcygeal teratoma with intraspinal extension.</div></div><div><h3>Case presentation</h3><div>A 1-day-old female prenatally diagnosed with a type-IV sacrococcygeal teratoma by ultrasound at 37 weeks of gestation was delivered vaginally without complications at 38 weeks and 1 day. Her weight was 3580 g. Physical examination revealed no visible or palpable tumors and no skin abnormalities. The neurological assessment was normal. The patient voided spontaneously and had a spontaneous bowel movement. Postnatal computed tomography (CT) showed a cystic mass in the pelvis with a maximum diameter of 9 cm, compressing the vagina and uterus, which resulted in hydrocolpos. The mass extended through a widened sacral canal up to the S-1 level. The nature of the connection between the mass and the thecal sac and intradural neural elements was not clear. The serum alpha-fetoprotein (AFP) level was 29,448 ng/ml, which is considered normal for the patient’s age. After a multidisciplinary discussion the decision was made to proceed with a combined surgical resection. In supine position and through a laparotomy, the pelvic component was completely freed from all surrounding structures. The patient was then placed in prone position, and through a sacral laminectomy up to L5 we removed the intra-sacral extension of the cystic mass. The thecal sac remained intact. The last segment of the sacrum and the coccyx were excised. The tumor was removed with en-bloc. Last, she was placed again in supine position for the closure of the abdominal incision. She recovered well from the operation. At 12-months of follow-up her development is appropriate for age, and she has no neurological deficits.</div></div><div><h3>Conclusion</h3><div>A combined anterior-posterior-anterior surgical approach is a suitable strategy for the complete resection of type-IV SCTs that have an intraspinal extension.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"114 ","pages":"Article 102888"},"PeriodicalIF":0.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143510163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Strong procedure with added anchoring stitches from the jejunum to the abdominal wall for Superior Mesenteric Artery Syndrome in children: A case report","authors":"Abdulaziz Abdulrahman AlQahtani,&nbsp;Rula Sallout,&nbsp;Walid Tareef,&nbsp;Majid Alkhamis","doi":"10.1016/j.epsc.2025.102977","DOIUrl":"10.1016/j.epsc.2025.102977","url":null,"abstract":"<div><h3>Introduction</h3><div>Sanjad-Sakati Syndrome (SSS) is a rare autosomal recessive disorder primarily observed in the Middle East. Superior mesenteric artery syndrome (SMAS) is also a rare gastrointestinal condition that mainly occurs in individuals who experience rapid weight loss and/or have a very low body mass index (BMI). The occurrence of these conditions together is extremely rare.</div></div><div><h3>Case presentation</h3><div>An 8-year-old girl with SSS was admitted to the hospital with flu-like symptoms, shortness of breath, and reduced oral intake over the previous two days. Her medical history included a recent right lobar pneumonia and recurrent vomiting. She was admitted with a diagnosis of recurrent pneumonia and received intravenous antibiotics. We placed a nasogastric tube, which drained bilious fluid. She underwent a plain abdominal film, an upper gastrointestinal study, and a computerized tomography (CT) scan which revealed that she had SMAS. She was started on conservative management, which included parenteral nutrition, metoclopramide, and small volume of enteral feedings. After four weeks without any improvement, we decided to proceed with a modified Strong operation. The modification involved anchoring the first segment of the jejunum to the abdominal wall of the right upper quadrant using two stitches of absorbable material, with the goal of minimizing the chance of a recurrence by preventing the jejunum from slipping back to its normal anatomical position. She tolerated the operation well. After an uneventful recovery, oral feedings were gradually introduced and increased until she reached full volume by postoperative day 12, She was discharged home one day later. She was followed for nine months and to date she has shown adequate weight gain.</div></div><div><h3>Conclusion</h3><div>Even though the association is remarkably rare, patients with SSS who had failure to thrive should undergo testing to rule out SMAS. If SMAS is confirmed and conservative measures are not successful, the modified Strong procedure appears to be a safe and effective surgical option.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"116 ","pages":"Article 102977"},"PeriodicalIF":0.2,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143592325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High rectal atresia anastomosed using magnets: A case report","authors":"Athanasios Tyraskis ,&nbsp;Piero Alberti ,&nbsp;Anthony Lander ,&nbsp;Shailesh Patel ,&nbsp;Niyi Ade-Ajayi","doi":"10.1016/j.epsc.2025.102978","DOIUrl":"10.1016/j.epsc.2025.102978","url":null,"abstract":"<div><h3>Introduction</h3><div>Surgical access to anorectal malformations (ARM) can be difficult from abdominal, perineal and transanal approaches. We present a case in which magnetic compression anastomosis was successfully employed to achieve a minimally invasive repair of high rectal atresia in a neonate.</div></div><div><h3>Case presentation</h3><div>A female neonate born at 38 weeks and 5 days with no significant antenatal history and failure to pass meconium in the first 48 hours after birth developed abdominal distension and bilious vomiting on the third day of life. The patient was found on clinical examination and contrast enema to have rectal atresia just below the peritoneal reflection. A diverting colostomy was fashioned on day four of life. A distal colostogram at two months of age confirmed the diagnosis of high rectal atresia with minimal separation between the atretic ends. Magnetic compression anastomosis by insertion of a pair of magnets through the anus and mucous fistula was attempted to obviate the need for invasive surgery. Following a failed first attempt at the age of 11 months, a second attempt performed at the age of 15 months under endoscopic and fluoroscopic guidance successfully established luminal continuity. The colostomy was closed at the age of 16 months following a single topical application of mitomycin C. The patient recovered well and has excellent anorectal function three years postoperatively.</div></div><div><h3>Conclusion</h3><div>Selected cases of rectal atresia may be treated by magnamosis. Fluoroscopic and endoscopic guidance may be required to ensure appropriate positioning of the magnets.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"116 ","pages":"Article 102978"},"PeriodicalIF":0.2,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143507945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Jejunal trichobezoar causing small bowel perforations in a child: A case report","authors":"William C. Baumgartner,&nbsp;Casey L. Witmeyer,&nbsp;Shawn D. Safford","doi":"10.1016/j.epsc.2025.102976","DOIUrl":"10.1016/j.epsc.2025.102976","url":null,"abstract":"<div><h3>Introduction</h3><div>Trichobezoar is a rare gastrointestinal foreign body predominantly affecting young females. While typically confined to the stomach, migration can result in severe complications, including obstruction and perforation.</div></div><div><h3>Case presentation</h3><div>A previously healthy 5-year-old female presented with acute abdominal pain, vomiting, and intolerance to oral intake. Initial imaging, including ultrasound and MRI, was inconclusive, but a subsequent CT scan revealed duodenal intussusception and significant gastric content. After endoscopy, the patient developed peritonitis, necessitating emergency surgery. Fourteen full-thickness perforations were identified along the mesenteric side of the jejunum, caused by a migrating trichobezoar. Ninety centimeters of small bowel was resected during the initial surgery, followed by two additional procedures for abdominal washout and resection of 15 cm of non-viable bowel. Pathology confirmed the diagnosis of trichobezoar. The patient recovered fully, tolerating oral feeds without recurrence of symptoms, and was discharged after 28 days of hospitalization.</div></div><div><h3>Conclusions</h3><div>Trichobezoars of the small bowel are rare but should always be included in the differential diagnosis of children presenting with acute abdominal pain, even in the absence of a psychiatric history.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"115 ","pages":"Article 102976"},"PeriodicalIF":0.2,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143453613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Membrane resection and Heineke-Mikulicz jejunoplasty for the management of Type-I jejunal atresia: A case series","authors":"Eduardo de la Rosa-Bustamante ,&nbsp;Gerardo Luna-Lopez ,&nbsp;Hugo Gonzalez-Garcia ,&nbsp;Abeud Ruiz-Martinez ,&nbsp;Jorge Cantu-Reyes ,&nbsp;Joel Cazares","doi":"10.1016/j.epsc.2025.102975","DOIUrl":"10.1016/j.epsc.2025.102975","url":null,"abstract":"<div><h3>Introduction</h3><div>Jejunal atresia (JA) is a congenital obstruction of the jejunum typically treated with resection of the atretic segment plus primary anastomosis. As a potential alternative we evaluated the efficacy of a membrane resection plus Heineke-Mikulicz jejunoplasty for the management of type-I JA.</div></div><div><h3>Case series</h3><div>Case 1) One-day-old male, born at 32 weeks of gestation with a prenatal diagnosis of proximal intestinal obstruction. Postnatal abdominal films showed a double-bubble sign. He underwent an exploratory laparotomy during which a type-1 JA was found 10 cm distal to the ligament of Treitz (LOT). We did a jejunotomy over the site of the atresia, removed the membrane that was causing the obstruction, and closed the jejunotomy in a Heineke-Mikulicz fashion. Case 2) Five-day-old male born at 34 weeks of gestation with a prenatal diagnosis of a proximal intestinal obstruction. Postnatal abdominal films showed a double-bubble sign with distal intestinal gas, suggestive of a fenestrated obstructive membrane. He underwent an exploratory laparotomy during which we found a type-1 JA 5 cm distal to the LOT. He underwent the same procedure described in Case 1. Case 3) Two-day-old female born at 34 weeks of gestation with a prenatal diagnosis of a proximal intestinal atresia. She underwent an exploratory laparotomy during which we found a type-1 JA 20 cm distal to the LOT. She underwent the same procedure described in Case 1, plus tapering of the proximal side of the atresia. Case 4) One-day-old term male with prenatal diagnosis of proximal intestinal obstruction. Postnatal abdominal films showed a double-bubble sign. During the exploratory laparotomy we found a type-1 JA 20 cm distal to the LOT. We did the procedure described in Case 1. All patients tolerated the operation well. The time to reach full enteral feedings ranged from 17 to 53 days. One patient required an exploratory laparotomy with lysis of adhesions 28 days after the initial operation. All cases had prenatal diagnoses of intestinal atresia (IA) and followed a standardized protocol involving orogastric tube (OGT) placement, X-ray imaging, neonatal intensive care unit (NICU), and laparotomy. Obstruction was treated via longitudinal enterotomy, membrane resection and HMJ. Patients tolerated full oral intake within 17–53 days and no mortality was observed.</div></div><div><h3>Conclusion</h3><div>Membrane resection and HMJ seems to be a safe and effective option for the management of type-I JA.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"115 ","pages":"Article 102975"},"PeriodicalIF":0.2,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143429270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Desmoplastic small round cell tumor presenting as an atypical pneumonia: A case report","authors":"K.J. Taghizadeh ,&nbsp;B.J. Weigel ,&nbsp;M. Luquette ,&nbsp;G.A. Alvernaz ,&nbsp;R.L. Lassiter","doi":"10.1016/j.epsc.2025.102974","DOIUrl":"10.1016/j.epsc.2025.102974","url":null,"abstract":"<div><h3>Introduction</h3><div>Desmoplastic small round cell tumors (DSRCT) are aggressive sarcomas which primarily affect children and young adults. These tumors often remain asymptomatic until advanced stages, making early diagnosis and treatment challenging.</div></div><div><h3>Case presentation</h3><div>We describe the case of a 14-year-old patient presenting with six months of persistent cough and dyspnea associated with a 30 kg weight loss. They were initially treated with antibiotics for suspected atypical pneumonia. Subsequent computed tomography (CT) imaging of the chest revealed bronchial thickening, mediastinal lymphadenopathy, a small pleural effusion, and sub-centimeter soft tissue densities in the left upper quadrant of the abdomen consistent with reactive lymph nodes. Bronchoscopy revealed diffuse mucosal abnormalities with airway pseudomembranes. Bronchoalveolar lavage (BAL) demonstrated rare fungal yeast forms with pseudo hyphae. Follow-up CT imaging revealed new right parietal pleural soft tissue masses, increased endobronchial plugging of the right middle and lower lobes, infiltrative changes of manubrium, sternum and liver, peritoneal implants, and extensive lymphadenopathy in the chest, abdomen, and pelvis. Diagnostic laparoscopy revealed significant ascites, matted omental lymph nodes, and peritoneal studding. Biopsies of omental lymph nodes and a peritoneal implant revealed desmoplastic small round cell tumor (DSRCT) with EWSR1:WT1 gene rearrangement. Chemotherapy was initiated. Despite radiographic and clinical evidence of response to therapy, the tumor burden remains unresectable.</div></div><div><h3>Conclusion</h3><div>Given the significant morbidity associated with these tumors and the limitations on treatment options for advanced disease, sarcomas should be included in the differential diagnosis for any child or adolescent who does not respond to treatment for atypical pneumonia.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"115 ","pages":"Article 102974"},"PeriodicalIF":0.2,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143419731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare urogenital malformation with prune belly syndrome in a newborn female: A case report","authors":"Melanie Elhafid,&nbsp;Kristopher Milbrandt","doi":"10.1016/j.epsc.2025.102973","DOIUrl":"10.1016/j.epsc.2025.102973","url":null,"abstract":"<div><h3>Introduction</h3><div>Prune Belly syndrome (PBS) is a rare congenital anomaly almost exclusive to males. It includes a triad of urinary tract abnormality, lack of abdominal muscles, and cryptorchidism. Urorectal septum malformation sequence (URSMS) is an even more rare congenital anomaly defined by the presence of ambiguous genitalia, absent perineal openings, and lumbosacral abnormalities. The association of PBS and elements of URSMS in a female patient is extremely rare.</div></div><div><h3>Case presentation</h3><div>A female newborn was born at 31 weeks of gestation by vaginal delivery to a multipara 23-year-old woman, who smoked one pack of cigarettes per day during the pregnancy. A prenatal ultrasound done at 25 weeks of gestation showed a cyst in the abdominal cavity, but further evaluation did not occur. Apgar scores were 7 and 7 at 1 and 5 minutes, respectively, and the patient was intubated due to respiratory distress. The initial physical exam revealed global hypotonia, a distended abdomen with deficient abdominal musculature, ambiguous genitalia, and an imperforate anus. With a provisional diagnosis of PBS the patient was transported to our center. An abdominal ultrasound (US) done on the first day of life (DOL) showed a 13.8x 5.7 × 8.8cm cystic abdominal mass, and dilated ureters but no hydronephrosis. We placed a percutaneous suprapubic catheter on DOL1 and took her to the operating room on DOL6 for an exploratory laparotomy plus colostomy. We found the bladder and the uterus fussed together. The colon was seen ending in the fused uterus/vagina, but there was no meconium in the lumen of the bladder. We transected the colon, created a colostomy with the proximal end, and drained the distal end with a Malecot tube. Further postoperative work-up revealed several other anomalies including bilateral intraventricular hemorrhages and polydactyly. Due to refractory ascites and worsening pulmonary hypertension her respiratory requirements continued to increase. Due to the multiple comorbidities, the family decided to withdraw care at the age of 51 days.</div></div><div><h3>Conclusion</h3><div>The prognosis of PBS with URSMS features in females is poor. Early diagnosis is critical to provide appropriate family counselling.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"115 ","pages":"Article 102973"},"PeriodicalIF":0.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143403558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}