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Syndromic and non-syndromic Hirschsprung disease with sensorineural hearing loss: A case series 综合征型和非综合征型巨结肠病伴感音神经性听力损失:一个病例系列
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-10-21 DOI: 10.1016/j.epsc.2025.103125
Fareeda Galley , Ebenezer Akomea-Agyin , Robert Sagoe , Anthony Davor , Regina Darko-Asante

Introduction

Neurocristopathies (NCPs) arise from abnormalities in the formation and migration of neural crest cells (NCCs) during fetal development. These lead to clinical manifestations in various body parts where NCCs contribute to development. They include the failure of NCCs to migrate completely into the distal colon, leading to Hirschsprung disease; failure to contribute to inner ear formation, resulting in sensorineural hearing loss; and failure to contribute to pigmentation of various parts, including the iris. These abnormalities can present in combinations found in both syndromic and non-syndromic children.

Cases presentation

We report on two cases that exhibit different combinations of the clinical manifestations of NCPs. The first is a 2-year-old female delivered at term with delayed passage of meconium but presented at 3 months of life with constipation and abdominal distention. She was managed with rectal washouts, and a rectal biopsy confirmed Hirschsprung disease. She had a trans-endorectal pull-through done at 2 years for a short segment Hirschsprung disease. The mother later reported some developmental delays, which led to the identification of the child's inability to respond to her name or startle to loud noise. An ear assessment revealed bilateral sensorineural hearing loss, believed to be congenital in origin. This was managed with a left-sided cochlear implant, and the child is currently undergoing rehabilitation and has yet to develop her speech. The second is an 18-month-old male believed to be the first reported case of Waardenburg-Shah in Ghana. The child was delivered at term with normal passage of meconium but developed constipation after introduction of family feeds at 6 months and was managed at home by parents with herbal enemas till 16 months of age, when enemas could not relieve constipation. The mother presented the child to the hospital on account of chronic constipation and inability to gain weight. Examination revealed a malnourished child with blue colored iris, abdominal distention, and digital rectal examination of an empty rectum with a gush of feces after removing the finger. Rectal washouts were done, and a rectal biopsy confirmed Hirschsprung disease. A hearing assessment revealed bilateral sensorineural hearing impairment, which was managed with hearing aids. The child is still undergoing nutritional rehabilitation towards definitive surgery.

Conclusion

Patients with Hirschsprung disease should undergo early hearing assessment to rule out Hirschsprung-associated sensorineural hearing loss. The combination of Hirschsprung disease and sensorineural hearing loss may or may not be syndromic.
神经嵴病变(ncp)是由胎儿发育过程中神经嵴细胞(ncc)的形成和迁移异常引起的。这些导致临床表现在不同的身体部位,ncc有助于发展。它们包括ncc不能完全迁移到远端结肠,导致巨结肠疾病;不能促进内耳形成,导致感音神经性听力损失;也不能导致包括虹膜在内的各个部位的色素沉着。这些异常可出现在综合征和非综合征儿童的组合中。我们报告了两例表现出不同临床表现组合的ncp病例。第一例为两岁女婴,足月分娩时胎便排出延迟,但3个月时出现便秘和腹胀。她接受直肠冲洗,直肠活检证实有先天性巨结肠。她在2岁时因短段先天性巨结肠病进行了经直肠内拉通手术。这位母亲后来报告说,孩子有一些发育迟缓,这导致孩子无法对她的名字做出反应,也无法对大声的噪音感到惊吓。耳朵评估显示双侧感音神经性听力损失,相信是先天性的起源。这是通过左侧人工耳蜗来解决的,孩子目前正在接受康复治疗,还没有发展她的语言能力。第二例是一名18个月大的男性,据信是加纳报告的首例Waardenburg-Shah病例。患儿足月分娩,胎便正常通过,但6个月时开始家庭喂养后出现便秘,并由父母在家进行草药灌肠治疗,直到16个月时灌肠无法缓解便秘。这位母亲把孩子送到医院,原因是慢性便秘和无法增加体重。检查发现一个营养不良的孩子,虹膜呈蓝色,腹胀,直肠指检显示直肠空,取下手指后便涌出。直肠冲洗和直肠活检证实了先天性巨结肠疾病。听力评估显示双侧感音神经性听力障碍,使用助听器进行治疗。这名儿童仍在接受营养康复治疗,准备接受最终手术。结论先天性巨结肠病患者应尽早进行听力评估,排除巨结肠相关感音神经性听力损失。巨结肠疾病和感音神经性听力损失的结合可能是也可能不是综合征。
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引用次数: 0
Acute appendicitis caused by Enterobius vermicularis in an 8-year-old child: a case report 8岁儿童由蛭状肠虫引起的急性阑尾炎1例
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-10-17 DOI: 10.1016/j.epsc.2025.103130
Autumn Bertch , Kimber Boyko , Irina Stout

Background

Enterobius vermicularis is a common pediatric parasite, and appendicitis is a frequent surgical emergency in children; however, it is uncommon for E. vermicularis infection to be the underlying cause.

Case presentation

An 8-year-old girl presented with fever, vomiting, and right lower quadrant abdominal pain. Laboratory evaluation demonstrated leukocytosis (WBC 19.3 × 109/L) with neutrophilia (14.4 × 109/L) and eosinophilia (1.0 × 109/L). Contrast-enhanced CT revealed a dilated, fluid-filled appendix with mucosal thickening and a distal appendicolith, consistent with acute appendicitis. She underwent uncomplicated laparoscopic appendectomy and was discharged the following day, tolerating a regular diet. Histopathology confirmed acute appendicitis with E. vermicularis organisms present. She was prescribed pyrantel pamoate oral suspension 50 mg/mL, 4.8 mL by mouth as a single dose, with a repeat dose scheduled two weeks later, and all household contacts were advised to undergo treatment. Notably, she had a history of recurrent conjunctivitis and vulvovaginitis, prompting referral to ophthalmology to evaluate for rare extraintestinal involvement.

Conclusion

Parasitic infection of the appendix should be suspected in pediatric patients with acute appendicitis and eosinophilia to ensure complete treatment with anti-parasitic therapy.
背景蛭状肠虫是一种常见的儿科寄生虫,阑尾炎是儿童常见的外科急症;然而,它是罕见的蠕虫感染是根本原因。病例表现:一名8岁女孩,表现为发烧、呕吐和右下腹部疼痛。实验室检查显示白细胞增多(WBC 19.3 × 109/L),伴中性粒细胞增多(14.4 × 109/L)和嗜酸性粒细胞增多(1.0 × 109/L)。增强CT显示阑尾扩张,充满液体,粘膜增厚,远端阑尾结石,符合急性阑尾炎。她接受了简单的腹腔镜阑尾切除术,并于第二天出院,饮食正常。组织病理学证实急性阑尾炎存在蛭状芽胞杆菌。给她开了帕马酸吡喃酯口服混悬液50 mg/mL, 4.8 mL单剂量口服,计划两周后重复给药,并建议所有家庭接触者接受治疗。值得注意的是,她有复发性结膜炎和外阴阴道炎的病史,促使她转诊到眼科评估罕见的肠外受累。结论小儿急性阑尾炎伴嗜酸性粒细胞增多患者应怀疑阑尾寄生虫感染,以保证抗寄生虫治疗的完全性。
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引用次数: 0
Ultrasound-guided retrieval of a retain guidewire in the femoral region of a 4-year-old male with anasarca: a case report 超声引导下股骨区保留导丝取出一例4岁男性无腹股沟:一例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-10-17 DOI: 10.1016/j.epsc.2025.103132
Saswati Behera , Raksha Ranjan , Navdeep Singh Dhoat , Gopal Krishan Jalwal , Charmi Patidar , Sourabh Meena

Introduction

Percutaneous central venous catheters (CVCs) are essential for children with difficult intravenous access but carry a risk of complications. Guidewire-related incidents, such as fracture or retention, are rare but serious. These challenges are exacerbated in patients with severe generalized anasarca, where physiological changes can complicate even standard procedures.

Case scenario

A 4-year-old male with nephrotic syndrome and severe anasarca on mechanical ventilation required a central venous access. During an ultrasound guided attempt via the right femoral vein, the J-shaped guidewire met with some resistance, after which it was withdrawn with some force. Due to severe anasarca, bedside ultrasonography (USG) failed to localize the retained segment thus making it impossible to explore. The child was sick and intubated. Upon gradual decrease in anasarca, as the bedside X-ray confirmed a knotted, retained piece in the thigh, two more attempts of bedside USG guided exploration under sedation was tried but failed. Two days later, cellulitis developed at the site. The child was taken to the operating room, where an ultrasound-guided needle was used to mark the exact location of the foreign body. This guided surgical incision and dissection, leading to the successful retrieval of the knotted guidewire.

Conclusion

Ultrasound guidance seems to be an effective way to localize retained fragments of guidewires located in the soft tissue of the thigh in children.
经皮中心静脉导管(CVCs)对于静脉进入困难的儿童是必不可少的,但有并发症的风险。与导丝相关的事故,如骨折或滞留,是罕见但严重的。这些挑战在严重全身性无肌痛患者中加剧,生理变化甚至可能使标准手术复杂化。病例:1例4岁男性肾病综合征伴严重缺氧,需机械通气,需要中心静脉通路。在通过右股静脉的超声引导尝试中,j形导丝遇到一些阻力,之后以一定的力将其拔出。由于严重的畸形,床边超声(USG)未能定位保留节段,从而无法探查。那孩子病了,需要插管。随着麻醉剂量的逐渐减少,由于床边x线片证实大腿处有一个打结的、保留的碎片,在镇静下又尝试了两次床边USG引导的探查,但都失败了。两天后,该部位出现蜂窝织炎。孩子被带到手术室,在那里用超声引导的针来标记异物的确切位置。这引导手术切口和剥离,导致成功检索打结的导丝。结论超声引导是定位儿童大腿软组织导丝残留碎片的有效方法。
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引用次数: 0
Posterior sagittal anorectoplasty for a recto-urethral fistula on a 14-year-old boy: a case report 后矢状肛门直肠成形术治疗14岁男孩直肠尿道瘘1例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-10-16 DOI: 10.1016/j.epsc.2025.103124
Fekadu Mengesha WoldeAmanuel, Ephrem Nidaw Kergo, Hana Abebe Gebreselassie, Zelalem Assefa Semegn

Introduction

Anorectal malformations (ARMs) are typically diagnosed and managed during infancy. Delayed treatment in adolescents is exceptionally rare.

Case presentation

A 14-year-old boy from a rural area was seen at our pediatric surgery unit with a sigmoid colostomy placed during the neonatal period. He had been lost to follow-up since the neonatal discharge. On examination, he was well-nourished and weighed 46 kg. He had no anal opening, but his gluteal muscles were well developed, the intergluteal cleft was prominent, and an anal dimple was present. A distal colostogram demonstrated a mildly dilated rectum terminating just below the sacrum, and a rectobulbar urethral fistula. His sacral ratio was 0.78. He was taken to the operating room for an elective posterior sagittal anorectoplasty (PSARP). Electrocautery mapping of the sphincter complex guided a midline posterior sagittal incision from the sacrum to the anal dimple. We ligated and repaired the rectobulbar urethral fistula with interrupted 4-0 reabsorbable braided sutures. The rectum was mobilized, tapered to fit tension-free within the sphincter complex, and the neoanus was positioned centrally. The colo-cutaneous anastomosis was fashioned with sixteen interrupted 3-0 reabsorbable braided sutures. The postoperative course was uneventful. Anal dilations began on postoperative day 14 and continued for three months, achieving an adequate anal caliber. The colostomy was closed safely in the fourth postoperative month. He is currently fully continent.

Conclusion

Posterior sagittal anorectoplasty seems to be an effective approach for the repair of anorectal malformations in teenagers who had not had the repair done during infancy.
肛肠畸形(ARMs)通常在婴儿期诊断和治疗。青少年延迟治疗的情况极为罕见。病例介绍:一名14岁的农村男孩在新生儿期接受乙状结肠造口手术。自从新生儿出院后,他就失去了随访机会。经检查,他营养良好,体重46公斤。他没有肛门开口,但他的臀肌发达,臀间裂明显,有一个肛窝。远端结肠造影显示直肠轻度扩张,止于骶骨下方,直肠球尿道瘘。他的骶骨比率为0.78。他被带到手术室进行择期后矢状肛肠成形术(PSARP)。电测括约肌复合体引导从骶骨到肛窝的中线后矢状切口。我们使用中断的4-0可重新吸收的编织缝线结扎和修复直肠球尿道瘘。直肠被动员,逐渐变细以适应括约肌复合体内的无张力,新生肛门被放置在中央。采用16条中断的3-0可重新吸收的编织线进行皮肤-结肠吻合。术后过程平淡无奇。术后第14天开始肛门扩张,持续3个月,达到足够的肛门口径。术后第4个月安全关闭结肠造口。他目前是完全独立的。结论后矢状面肛肠成形术是治疗婴幼儿期未行肛肠修复术的青少年肛肠畸形的有效方法。
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引用次数: 0
Precocious puberty in a 20-month-old girl secondary to an ovarian juvenile granulosa cell tumor: a case report 继发于卵巢幼年颗粒细胞瘤的20月龄女童性早熟1例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-10-15 DOI: 10.1016/j.epsc.2025.103133
Syrine Laribi , Myriam Ben Fredj , Sabrine Ben Youssef , Afef Toumi , Sawsen Chakroun , Lassaad Sahnoun

Background

Juvenile granulosa cell tumors (JGCTs) are extremely rare ovarian neoplasms, accounting for a small fraction of pediatric ovarian tumors. Their hormonal activity often manifests as precocious puberty, which may be the first sign of the disease.

Case presentation

We report the case of a 20-month-old girl presenting with persistent vaginal bleeding for one month. She was born at term by cesarean section after an uncomplicated pregnancy, with an unremarkable medical history. Her mother reported breast development starting six months earlier. On examination, the patient appeared in good general condition, with Tanner stage II breast and pubic hair development and no clitoromegaly. Abdominopelvic ultrasonography revealed a large mixed solid–cystic right ovarian mass measuring 68 × 60 mm with intralesional fluid and uterine enlargement. Pelvic MRI confirmed an 80-mm right ovarian mass with both solid and cystic components and no locoregional invasion or abnormal vascular flow. Laboratory tests showed elevated estradiol (68 pg/mL; normal <62 pg/mL), lactate dehydrogenase (269 U/L; normal <200 U/L), and inhibin B (985 pg/mL; normal <200 pg/mL), with normal human chorionic gonadotropin, progesterone, and alpha-fetoprotein levels. The patient underwent right salpingo-oophorectomy to ensure complete excision and to avoid potential tumor cell spillage or future complications., and histopathological examination confirmed a juvenile granulosa cell tumor. Postoperative follow-up over five months showed complete resolution of symptoms and no recurrence.

Conclusion

Ovarian juvenile granulosa cell tumors must be promptly ruled out in females who present precocious puberty.
幼年颗粒细胞瘤(jgct)是一种极为罕见的卵巢肿瘤,仅占儿童卵巢肿瘤的一小部分。他们的荷尔蒙活动通常表现为性早熟,这可能是这种疾病的第一个征兆。我们报告的情况下,20个月大的女孩表现为持续阴道出血一个月。她是在一次没有并发症的怀孕后通过剖宫产足月出生的,没有什么不寻常的病史。她的母亲报告乳房发育开始于六个月前。经检查,患者总体情况良好,Tanner II期乳房和阴毛发育,无阴蒂肿大。腹部盆腔超声示右侧卵巢68 × 60 mm大混合实性囊性肿块,病灶内积液,子宫增大。盆腔MRI证实右侧卵巢肿块,直径80毫米,有实性和囊性成分,未见局部侵犯或血管流动异常。实验室检查显示雌二醇(68 pg/mL;正常<;62 pg/mL)、乳酸脱氢酶(269 U/L;正常<;200 U/L)和抑制素B (985 pg/mL;正常<;200 pg/mL)升高,绒毛膜促性腺激素、黄体酮和甲胎蛋白水平正常。患者行右侧输卵管卵巢切除术,以确保完全切除,并避免潜在的肿瘤细胞溢出或未来的并发症。组织病理学检查证实为幼年颗粒细胞瘤。术后随访5个月,症状完全缓解,无复发。结论出现性早熟的女性应及时排除卵巢幼年性颗粒细胞瘤。
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引用次数: 0
Juvenile granulosa cell tumor in a teenager: a case report 青少年颗粒细胞瘤1例
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-10-15 DOI: 10.1016/j.epsc.2025.103131
Ian Cummings-Ruiz , Nicole A. Martínez-Martínez , Kenneth Avilés-Fernández , Yaiel Rodríguez-Avilés , Victor Ortiz-Justiniano

Introduction

Juvenile granulosa cell tumors (JGCTs) are rare ovarian sex cord–stromal neoplasms that primarily affect young females and are often detected early due to hyperestrogenic manifestations.

Case presentation

A 17-year-old female with a history of seizures and hypothyroidism presented with a 5-month history of intermittent abdominal pain, nausea, anorexia, and constant lower-back discomfort associated with progressive abdominal distention. Physical examination revealed marked abdominal distention with striae. Laboratory studies demonstrated elevated lactate dehydrogenase (LDH) and alkaline phosphatase (ALP), as well as beta-human chorionic gonadotropin (β-hCG). An abdominopelvic computed tomography (CT) scan revealed a 35.7 × 26 × 19.1 cm predominantly cystic adnexal mass with eccentric solid components and no evidence of ascites or lymphadenopathy. Tumor markers, including alpha-fetoprotein (AFP) and carcinoembryonic antigen (CEA), were negative. Surgical exploration via periumbilical incision revealed a large cystic mass arising from the left adnexa. Controlled decompression with a Veress needle allowed safe mobilization of the tumor, yielding 4.8 L of cystic fluid that was sent for cytological evaluation. The mass was then excised from the abdominal cavity, and a left salpingo-oophorectomy was performed. Pathology confirmed a JGCT with an intact capsule, classified as stage IA according to the Federation of Gynecology and Obstetrics (FIGO) criteria. Postoperatively, the patient recovered well and remained asymptomatic, with no recurrence during a 3-year follow-up period.

Conclusion

JGCT should be considered as a differential diagnosis of large ovarian tumors in adolescents, even in the absence of hormonal manifestations.
青少年颗粒细胞瘤(jgct)是一种罕见的卵巢性索间质肿瘤,主要发生在年轻女性身上,通常因雌激素分泌过多而早期发现。17岁女性,有癫痫发作和甲状腺功能减退病史,5个月来间歇性腹痛、恶心、厌食,持续腰背部不适伴进行性腹胀。体格检查显示明显腹胀伴条纹。实验室研究表明乳酸脱氢酶(LDH)和碱性磷酸酶(ALP)以及β-人绒毛膜促性腺激素(β-hCG)升高。腹部计算机断层扫描(CT)显示一个35.7 × 26 × 19.1厘米的主要囊性附件肿块,有偏心实体成分,无腹水或淋巴结病的证据。肿瘤标志物,包括甲胎蛋白(AFP)和癌胚抗原(CEA)均为阴性。经脐周切口探查发现左附件有一个巨大的囊性肿块。用Veress针控制减压,使肿瘤安全活动,产生4.8 L囊性液,用于细胞学评估。然后从腹腔切除肿块,并进行左侧输卵管卵巢切除术。病理证实为JGCT,包膜完整,根据妇产科学联合会(FIGO)标准分类为IA期。术后患者恢复良好,无症状,随访3年无复发。结论即使没有激素表现,jgct也可作为青少年卵巢大肿瘤的鉴别诊断手段。
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引用次数: 0
Large congenital lymphatic venous malformation in a twin pregnancy: A case report 双胎妊娠大先天性淋巴静脉畸形1例
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-10-14 DOI: 10.1016/j.epsc.2025.103126
Azalia Avila , Nina Kosciuszek , Christine M. Finck , DonnaMaria E. Cortezzo

Introduction

Congenital lymphatic venous malformations (LVMs) are rare, slow-flow vascular anomalies with highly variable presentations. While most pose no considerable risk to the pregnant individual or fetus, larger complex lesions, particularly in monochorionic-diamniotic twin pregnancies, are uncommon and present unique diagnostic and management challenges.

Case presentation

A 27-year-old gravida 4, para 2 pregnant individual presented at 23 0/7 weeks' gestation with a monochorionic-diamniotic twin pregnancy. Ultrasound and fetal magnetic resonance imaging (MRI) revealed a large T2 hyperintense cystic mass extending from the chest wall into the neck, axilla, and arm of twin B, consistent with a LVM. Multidisciplinary evaluation guided prenatal surveillance. At 31 2/7 weeks’ gestation, evolving hydrops and severe maternal pre-eclampsia necessitated cesarean delivery. Twin B required intubation for airway compression and remained hemodynamically stable. MRI confirmed a complex and extensive LVM with an extensive venous component. After multidisciplinary discussion, she was treated with rapamycin and later underwent limited resection, drainage and vacuum assisted closure of the left neck lesion, leading to resolution of the lesion with subsequent extubation by day of life (DOL) 43. She subsequently underwent limited aspiration, drainage, and vacuum assisted closure of the left chest wall. She demonstrated clinical improvement with early initiation of supportive therapies.

Conclusion

Large fetal lymphovascular malformations require close monitoring and imaging surveillance throughout gestation due to the risk of potential lesion progression and hydrops fetalis.
摘要先天性淋巴静脉畸形(lvm)是一种罕见的慢流血管畸形,表现形式多变。虽然大多数对孕妇或胎儿没有相当大的风险,但较大的复杂病变,特别是在单绒毛膜-双羊膜双胎妊娠中,并不常见,并提出了独特的诊断和管理挑战。一例27岁妊娠期第4段妊娠个体在妊娠23 /7周出现单绒毛膜双羊膜双胎妊娠。超声和胎儿磁共振成像(MRI)显示双胞胎B的T2高强度囊性肿块从胸壁延伸到颈部、腋窝和手臂,符合LVM。多学科评价指导产前监测。在妊娠31 /7周,不断发展的积液和严重的母体先兆子痫需要剖宫产。双胞胎B需要插管进行气道压迫并保持血流动力学稳定。MRI证实一个复杂和广泛的LVM与广泛的静脉成分。在多学科讨论后,她接受雷帕霉素治疗,随后进行了有限切除、引流和真空辅助关闭左颈部病变,最终在生命当天(DOL)拔管治疗病变43。随后,她接受了有限的抽吸、引流和真空辅助关闭左胸壁。她在早期开始支持性治疗后表现出临床改善。结论大的胎儿淋巴血管畸形有发展和积水的危险,需要在整个妊娠期密切监测和影像学监测。
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引用次数: 0
Gastrojejunostomy and Ladd's procedure for the management of obstructive preduodenal portal vein and intestinal malrotation in an adolescent: A case report 胃空肠吻合术及Ladd手术治疗青少年十二指肠前门静脉梗阻及肠道旋转不良1例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-10-10 DOI: 10.1016/j.epsc.2025.103121
Vitalis C. Osuji, Michael Tirabassi

Introduction

A potential cause of bowel obstruction in the setting of intestinal malrotation is preduodenal portal vein (PDPV). It is a rare congenital anomaly that can be associated with duodenal atresia, duodenal web, or annular pancreas.

Case presentation

A 14-year-old female with a long history of failure to thrive presented to the hospital with abdominal pain. She described the pain as intermittent, responsive to pain medication, with radiation to the back. Her mother provided a history of approximately 10–15lbs of unintentional weight loss in 3–4 months, and intermittent symptoms that had been ongoing for over one year. She underwent a computed tomography (CT) of the abdomen/pelvis with intravenous contrast and was found to have intestinal malrotation with splenosis, inverse relationship of the superior mesenteric artery and superior mesenteric vein, the appendix in the left lower quadrant, and uterine didelphys. She underwent an upper gastrointestinal (UGI) study with small bowel follow-through that confirmed the malrotation, without bowel obstruction or volvulus. Due to persistent symptoms, she was taken to the operating room for an exploratory laparoscopy. We found that she had a PDPV, which was likely the cause of her symptoms. The PDPV was very close to the pylorus. After careful dissection, we were unable to obtain adequate duodenal length proximal to the PDPV to do a duodeno-duodenostomy. Therefore, we decided to proceed with gastrojejunostomy, followed by a Ladd's procedure. She had an uncomplicated recovery and was discharged home on postoperative day 10. Nine months after the operation, she remains asymptomatic.

Conclusion

PDPV can present as the primary cause of duodenal obstruction. A gastrojejunostomy appears to be an effective treatment for cases in which a duodeno-duodenostomy is not doable.
在肠旋转不良的情况下,十二指肠前门静脉(PDPV)是肠梗阻的一个潜在原因。这是一种罕见的先天性异常,可能与十二指肠闭锁、十二指肠网或环状胰腺有关。病例表现:一名14岁女性,长期发育不良,因腹痛就诊。她说这种疼痛是间歇性的,对止痛药有反应,背部有辐射。她的母亲提供了在3-4个月内意外体重减轻约10 - 15磅的病史,并出现了持续一年多的间歇性症状。患者行腹部/骨盆计算机断层扫描(CT)及静脉造影剂检查,发现肠道旋转不良伴脾肿大,肠系膜上动脉与肠系膜上静脉呈逆相关,左下腹阑尾,子宫双侧肿大。她接受了上胃肠道(UGI)检查和小肠随访,证实旋转不良,无肠梗阻或肠扭转。由于症状持续,她被带到手术室进行腹腔镜探查。我们发现她有ppv,这可能是导致她症状的原因。ppdv非常靠近幽门。仔细解剖后,我们无法获得足够的十二指肠长度近PDPV做十二指肠-十二指肠吻合术。因此,我们决定进行胃空肠吻合术,然后进行Ladd手术。术后10天,患者顺利康复出院。手术后9个月,她仍无症状。结论pdpv可能是十二指肠梗阻的主要原因。胃空肠吻合术似乎是一个有效的治疗情况下,十二指肠-十二指肠吻合术是不可行的。
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引用次数: 0
Acute abdominal pain due to torsion and gangrene of a Meckel's diverticulum: a case report 梅克尔憩室扭转及坏疽致急性腹痛1例
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-10-10 DOI: 10.1016/j.epsc.2025.103120
Ashagre Gebremichael Ganta , Amanu Gashaw

Introduction

Meckel's diverticulum is a common congenital anomaly that can lead to serious complications. Axial torsion is a rare event that can result in vascular compromise, ischemia, and gangrene. Its clinical presentation is non-specific and can be indistinguishable from other causes of a surgical acute abdomen.

Case presentation

A 4-year-old male presented to the emergency department with a four-day history of progressive abdominal pain that had become constant, severe, and diffuse. His symptoms were accompanied by bilious vomiting, high-grade fever (up to 39.8 °C), profound lethargy, and anorexia. On examination, he was tachycardic, febrile, and exhibited a toxic clinical appearance. His abdomen was significantly distended, with profound tenderness, involuntary guarding, rigidity, and rebound tenderness indicative of generalized peritonitis; bowel sounds were absent. Laboratory investigations revealed leukocytosis of 40.0 × 109/L with neutrophilia, and a markedly elevated CRP of 105 mg/L. Abdominal x-ray demonstrated non-specific air-fluid levels, and large volume of complex free fluid was seen on a bedside ultrasonography. Following vigorous fluid resuscitation and broad-spectrum intravenous antibiotics, the patient underwent an urgent exploratory laparotomy. Intraoperatively, the appendix appeared normal. We found a gangrenous Meckel's diverticulum located 55 cm proximal to the ileocecal valve, which had undergone a 540-degree axial torsion around its narrow pedicle, resulting in ischemia without perforation. A segmental small bowel resection with primary anastomosis was performed. Histopathology confirmed transmural hemorrhagic infarction and coagulative necrosis. The postoperative course was uneventful, with return of bowel function on the second postoperative day. The patient was discharged home on postoperative day 10.

Conclusion

Torsion of a Meckel's diverticulum should be included in the differential diagnosis of children who develop acute abdominal pain.
梅克尔憩室是一种常见的先天性异常,可导致严重的并发症。轴向扭转是一种罕见的事件,可导致血管损伤,缺血和坏疽。它的临床表现是非特异性的,可以与外科急腹症的其他原因难以区分。病例介绍一名4岁男性,因持续、严重和弥漫性腹痛进行性腹痛4天就诊于急诊科。伴有胆汁性呕吐、高热(高达39.8°C)、深度嗜睡和厌食。经检查,他心动过速,发热,并表现出中毒的临床表现。腹部明显膨胀,有深度压痛、不自主守卫、僵硬、反跳压痛,提示广泛性腹膜炎;没有肠音。实验室检查显示白细胞40.0 × 109/L,伴中性粒细胞增多,CRP明显升高105mg /L。腹部x线显示非特异性气液水平,床边超声显示大量复杂的自由液体。在大力液体复苏和广谱静脉注射抗生素后,患者接受了紧急剖腹探查术。术中阑尾显示正常。我们发现一个坏疽性的Meckel憩室位于回盲瓣近端55cm处,其狭窄蒂周围发生了540度轴向扭转,导致缺血而无穿孔。行节段性小肠切除术并一期吻合。组织病理学证实为跨壁出血性梗死和凝固性坏死。术后过程顺利,术后第二天肠功能恢复。患者于术后第10天出院。结论小儿急性腹痛的鉴别诊断应包括梅克尔憩室扭转。
{"title":"Acute abdominal pain due to torsion and gangrene of a Meckel's diverticulum: a case report","authors":"Ashagre Gebremichael Ganta ,&nbsp;Amanu Gashaw","doi":"10.1016/j.epsc.2025.103120","DOIUrl":"10.1016/j.epsc.2025.103120","url":null,"abstract":"<div><h3>Introduction</h3><div>Meckel's diverticulum is a common congenital anomaly that can lead to serious complications. Axial torsion is a rare event that can result in vascular compromise, ischemia, and gangrene. Its clinical presentation is non-specific and can be indistinguishable from other causes of a surgical acute abdomen.</div></div><div><h3>Case presentation</h3><div>A 4-year-old male presented to the emergency department with a four-day history of progressive abdominal pain that had become constant, severe, and diffuse. His symptoms were accompanied by bilious vomiting, high-grade fever (up to 39.8 °C), profound lethargy, and anorexia. On examination, he was tachycardic, febrile, and exhibited a toxic clinical appearance. His abdomen was significantly distended, with profound tenderness, involuntary guarding, rigidity, and rebound tenderness indicative of generalized peritonitis; bowel sounds were absent. Laboratory investigations revealed leukocytosis of 40.0 × 10<sup>9</sup>/L with neutrophilia, and a markedly elevated CRP of 105 mg/L. Abdominal x-ray demonstrated non-specific air-fluid levels, and large volume of complex free fluid was seen on a bedside ultrasonography. Following vigorous fluid resuscitation and broad-spectrum intravenous antibiotics, the patient underwent an urgent exploratory laparotomy. Intraoperatively, the appendix appeared normal. We found a gangrenous Meckel's diverticulum located 55 cm proximal to the ileocecal valve, which had undergone a 540-degree axial torsion around its narrow pedicle, resulting in ischemia without perforation. A segmental small bowel resection with primary anastomosis was performed. Histopathology confirmed transmural hemorrhagic infarction and coagulative necrosis. The postoperative course was uneventful, with return of bowel function on the second postoperative day. The patient was discharged home on postoperative day 10.</div></div><div><h3>Conclusion</h3><div>Torsion of a Meckel's diverticulum should be included in the differential diagnosis of children who develop acute abdominal pain.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"122 ","pages":"Article 103120"},"PeriodicalIF":0.2,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145325494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sacrococcygeal epidermal inclusion cyst in a child: A case report 儿童骶尾骨表皮包涵性囊肿1例
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-10-10 DOI: 10.1016/j.epsc.2025.103118
Saswati Behera , Satvik Dharmaik , Santosh Behera , Ankit Rai , Gargi Kapatia , Ashish Kumar

Introduction

Epidermal inclusion cysts (EIC) are common benign lesions, but their occurrence in the sacrococcygeal area, particularly in the pediatric population, is an exceedingly rare event. Due to their location, they must be differentiated from other more serious retrorectal tumors.

Case presentation

A 10-year-old male child presented with a congenital, firm, non-fluctuant swelling over his sacrococcygeal region that had been slowly increasing in size since birth. There was no associated urine or fecal incontinence or any history of trauma. On examination, the swelling was firm to touch, non-fluctuant, mobile and located in the midline of the natal cleft just superior to the anus. There was no associated erythema, overlying skin changes, draining sinus, or pain upon handling. Per rectal examination revealed no palpable mass. Ultrasonography (USG) showed a cystic homogenous well-defined mass of 3x2.5 × 3 centimetres without any spinal communication or bony deformity. Magnetic resonance imaging (MRI) confirmed the USG findings. The patient underwent complete surgical excision of the mass under general anesthesia in jack knife prone position. Histopathological examination confirmed the diagnosis of an epidermal inclusion cyst, showing a cyst lined by stratified squamous epithelium and containing keratin flakes, with no evidence of malignancy. The patient had an uncomplicated recovery with no postoperative neurological deficits. He is doing well and under regular follow up.

Conclusion

Epidermal inclusion cyst must be considered in the differential diagnosis of children who present with sacrococcygeal lesions. Complete surgical resection is the treatment of choice.
表皮包涵性囊肿(EIC)是常见的良性病变,但其发生在骶尾骨区域,特别是在儿童人群中,是非常罕见的事件。由于其所处的位置,必须与其他更严重的直肠后肿瘤鉴别。病例介绍:一名10岁男童,先天性骶尾骨区坚硬、无波动性肿胀,自出生以来体积缓慢增大。没有相关的尿失禁或大便失禁或任何创伤史。经检查,肿块摸起来结实,无波动,可移动,位于出生裂口中线,刚好在肛门上方。没有相关的红斑,覆盖的皮肤变化,引流窦,或疼痛处理。直肠检查未见可触及肿块。超声检查(USG)显示一个3 × 2.5 × 3厘米的囊性均匀、边界明确的肿块,无任何脊柱通讯或骨畸形。磁共振成像(MRI)证实了USG的发现。病人在全身麻醉下以刀卧位接受完整的手术切除肿块。组织病理学检查证实了表皮包涵性囊肿的诊断,显示囊肿内衬层状鳞状上皮并含有角蛋白薄片,无恶性肿瘤证据。患者术后恢复简单,无神经功能缺损。他做得很好,正在接受定期随访。结论小儿骶尾骨病变必须考虑表皮包涵囊肿的鉴别诊断。完全手术切除是治疗的首选。
{"title":"Sacrococcygeal epidermal inclusion cyst in a child: A case report","authors":"Saswati Behera ,&nbsp;Satvik Dharmaik ,&nbsp;Santosh Behera ,&nbsp;Ankit Rai ,&nbsp;Gargi Kapatia ,&nbsp;Ashish Kumar","doi":"10.1016/j.epsc.2025.103118","DOIUrl":"10.1016/j.epsc.2025.103118","url":null,"abstract":"<div><h3>Introduction</h3><div>Epidermal inclusion cysts (EIC) are common benign lesions, but their occurrence in the sacrococcygeal area, particularly in the pediatric population, is an exceedingly rare event. Due to their location, they must be differentiated from other more serious retrorectal tumors.</div></div><div><h3>Case presentation</h3><div>A 10-year-old male child presented with a congenital, firm, non-fluctuant swelling over his sacrococcygeal region that had been slowly increasing in size since birth. There was no associated urine or fecal incontinence or any history of trauma. On examination, the swelling was firm to touch, non-fluctuant, mobile and located in the midline of the natal cleft just superior to the anus. There was no associated erythema, overlying skin changes, draining sinus, or pain upon handling. Per rectal examination revealed no palpable mass. Ultrasonography (USG) showed a cystic homogenous well-defined mass of 3x2.5 × 3 centimetres without any spinal communication or bony deformity. Magnetic resonance imaging (MRI) confirmed the USG findings. The patient underwent complete surgical excision of the mass under general anesthesia in jack knife prone position. Histopathological examination confirmed the diagnosis of an epidermal inclusion cyst, showing a cyst lined by stratified squamous epithelium and containing keratin flakes, with no evidence of malignancy. The patient had an uncomplicated recovery with no postoperative neurological deficits. He is doing well and under regular follow up.</div></div><div><h3>Conclusion</h3><div>Epidermal inclusion cyst must be considered in the differential diagnosis of children who present with sacrococcygeal lesions. Complete surgical resection is the treatment of choice.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"122 ","pages":"Article 103118"},"PeriodicalIF":0.2,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145325493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Journal of Pediatric Surgery Case Reports
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