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Massive thymic hyperplasia in a toddler masquerading as a loculated pleural effusion: A case report 伪装成定位性胸腔积液的幼儿大面积胸腺增生:病例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-09-16 DOI: 10.1016/j.epsc.2024.102885
Emily J. Zolfaghari , Matthew Shaughnessy , Hao Wu , Michael Caty , Emily Christison-Lagay , Matthew A. Hornick

Introduction

Pediatric massive thymic hyperplasia is a rare condition that can masquerade as a respiratory illness, making diagnosis challenging.

Case presentation

An 18-month-old female with a 3-month history of multiple admissions for suspected pneumonia warranting antibiotics presented with recurrent respiratory distress, fevers, and fatigue. Work-up for possible parapneumonic effusion, including six chest x-rays and an ultrasound, eventually led to a computed tomography (CT) of the chest, which revealed a large homogeneous mass occupying much of the right-hemithorax. Percutaneous core biopsy showed thymocytes suggestive of either a massive thymic hyperplasia or a thymoma. Consensus was to proceed with upfront surgical resection of the mass, which was performed via right thoracotomy. Pathology was consistent with true thymic hyperplasia. The post-operative course was uncomplicated, and no issues were identified at 3-month follow-up. We plan to follow the patient at 6 months, 1 year, and then annually with surveillance chest x-rays to monitor for recurrence case-report.

Conclusion

Thymic hyperplasia should be included in the differential diagnosis of pediatric patients with persistent respiratory symptoms and abnormal findings on chest x-ray.

导言小儿胸腺大量增生是一种罕见疾病,可伪装成呼吸道疾病,因此诊断具有挑战性。病例介绍一名 18 个月大的女性患者,曾因疑似肺炎多次入院治疗,并使用抗生素,病史长达 3 个月,反复出现呼吸困难、发热和乏力。检查结果显示可能存在肺旁积液,包括六次胸部 X 光检查和一次超声波检查,最终进行了胸部计算机断层扫描(CT),发现一个巨大的均匀肿块占据了右侧胸腔的大部分。经皮核心活检显示,胸腺细胞提示大块胸腺增生或胸腺瘤。大家一致同意对肿块进行前期手术切除,手术是通过右胸廓切开术进行的。病理结果与真正的胸腺增生一致。术后过程并不复杂,3 个月随访时未发现任何问题。我们计划对患者进行 6 个月、1 年的随访,然后每年进行一次胸部 X 光检查,以监测复发情况。
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引用次数: 0
Capillary hemangioma of the external oblique muscle: A case report 外斜肌毛细血管瘤:病例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-09-13 DOI: 10.1016/j.epsc.2024.102881
K.K. Athish , Venkat Hariharan Marimuthu , Vamsi Krishna Reddy Kurri , Suggula Vamsi Krishna , Anwadevi Arun , Dinesh Kumar Sathanantham

Introduction

Intramuscular hemangiomas (IMH) are rare benign vascular tumors. They can occur anywhere in the body but are more common in the head and neck. Their location in the muscles of the abdominal wall is uncommon.

Case presentation

A 14-year-old girl presented with 5 months of progressive swelling on the right side of her abdomen followed by intermittent pain. On examination, a solitary mass with ill-defined borders was noted fixed to the subcutaneous tissue in the right lumbar quadrant. After elevating the right leg, the swelling became more prominent. Doppler ultrasonography revealed a mixed echogenic mass in the subcutaneous plane of the anterior abdominal wall of the right lumbar region. Magnetic resonance imaging of abdomen was suggestive of hemangioma, and the patient underwent surgical excision. Histopathological examination confirmed the diagnosis of capillary hemangioma. During follow-up at 3 and 6 months, the patient did not present with recurrence and was healthy.

Conclusion

Although IMH is a rare soft-tissue tumor, it should be considered when diagnosing symptomatic intramuscular swelling.

导言肌血管瘤(IMH)是一种罕见的良性血管肿瘤。它们可以发生在身体的任何部位,但更常见于头颈部。病例介绍一名 14 岁女孩因腹部右侧进行性肿胀 5 个月,随后出现间歇性疼痛而就诊。检查发现,右腰部皮下组织固定着一个边界不清的单发肿块。抬高右腿后,肿块变得更加突出。多普勒超声检查显示,右腰部前腹壁皮下有一个混合性回声肿块。腹部磁共振成像提示为血管瘤,患者接受了手术切除。组织病理学检查确诊为毛细血管瘤。结论虽然IMH是一种罕见的软组织肿瘤,但在诊断无症状的肌肉内肿物时应考虑到它。
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引用次数: 0
Laparoscopic-guided sclerotherapy of an abdominal lymphatic malformation: A case report 腹腔镜引导下的腹腔淋巴畸形硬化疗法:病例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-09-12 DOI: 10.1016/j.epsc.2024.102883
Paul McClure , Kate McNevin , Giri Shivaram , Caitlin Smith

Introduction

While most lymphatic malformations (LMs) are treated by percutaneous sclerotherapy, intra-abdominal LMs may be difficult to access percutaneously due to their anatomic location.

Case presentation

An 11-year-old otherwise healthy boy presented with abdominal pain and cross-sectional imaging (including CT scan and MRI) identified an intra-abdominal LM located in the lesser sac, bordered by the stomach, spleen, and pancreas. An attempt to access the lesion percutaneously was made, however this was unsuccessful due to overlying viscera. Given the morbidity associated with an open surgical approach, the patient underwent laparoscopic-guided doxycycline sclerosant injection. After the LM was exposed laparoscopically, a pigtail catheter was placed into the lesion using the Seldinger technique. Doxycycline sclerosant was instilled three times over the course of three days and the pigtail catheter was removed after the third instillation. The LM completed resolved in addition to the abdominal pain the patient was experiencing. After more than one year of follow up, the LM has not recurred.

Conclusion

Abdominal LMs may be safely treated with a laparoscopic-guided doxycycline sclerosant injection when surgical excision would be exceedingly morbid and there is no safe percutaneous entry site.

导言虽然大多数淋巴畸形(LM)可通过经皮硬化剂注射治疗,但腹腔内淋巴畸形因其解剖位置可能难以经皮探查。病例介绍一名 11 岁的健康男孩因腹痛就诊,经横断面影像学检查(包括 CT 扫描和 MRI)发现腹腔内淋巴畸形位于小囊,与胃、脾脏和胰腺接壤。医生尝试经皮探查病灶,但由于被内脏覆盖而未能成功。考虑到开腹手术的发病率,患者接受了腹腔镜引导下的强力霉素硬化剂注射。腹腔镜暴露 LM 后,使用 Seldinger 技术将一根尾纤导管置入病灶。多西环素硬化剂在三天内灌注三次,第三次灌注后移除尾纤导管。除腹痛外,LM 也得到了缓解。结论当手术切除会造成极大的病痛,且没有安全的经皮进入部位时,腹腔镜引导下多西环素硬化剂注射可以安全地治疗腹腔 LM。
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引用次数: 0
Rapunzel syndrome leading to multiple bowel perforations: A case report 长发公主综合征导致多发性肠穿孔:病例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-09-12 DOI: 10.1016/j.epsc.2024.102884
Zachary Ballinger , Erin Scott , Alanna Hickey , Jonathan Green , Jeremy Aidlen , Muriel Cleary

Introduction

Although patients with Rapunzel syndrome are often asymptomatic, rare complications such as isolated gastric or duodenal perforation, pancreaticobiliary or intestinal obstruction, and intussusception have been described.

Case presentation

A 5-year-old female with no known medical history presented after nearly two weeks of worsening constipation, abdominal distension, and abdominal pain. A CT scan demonstrated a large gastric bezoar, pneumoperitoneum, and large volume complex free fluid. The patient was taken to the operating room for an abdominal exploration. We found a large gastric trichobezoar with hair extending into the small bowel, consistent with Rapunzel syndrome. The gastric trichobezoar was connected to a mid-ileal trichobezoar through interdigitating hair fibers. At multiple locations along the small bowel, garroted linear perforations had occurred due to tension created by the intestinal peristalsis along the interconnecting hair fibers, creating mucosal ulcerations and transmural pressure necrosis that required an extensive small bowel resection. Ultimately, we did one end-end small bowel anastomosis and placed a gastrostomy tube. Gastrostomy tube feeds were started on postoperative day 6 after confirming with a contrast study that there were no intestinal leaks. She developed a superficial wound infection that was managed with antibiotics and negative pressure wound therapy. She was discharged tolerating regular diet on post-operative day 23, and is undergoing psychiatric therapy.

Conclusion

Although rare, Rapunzel syndrome can lead to severe complications. When two trichobezoars are present, interconnecting hair fibers can cause small bowel perforations.

导言尽管拉蓬泽尔综合征患者通常没有症状,但也出现过罕见的并发症,如孤立性胃或十二指肠穿孔、胰胆管或肠梗阻以及肠套叠。病例介绍一名 5 岁女性,无已知病史,在便秘、腹胀和腹痛加重近两周后就诊。CT 扫描显示有一个巨大的胃结节、腹腔积气和大量复杂的游离液体。患者被送往手术室进行腹部探查。我们发现了一个巨大的胃三叶虫,其毛发延伸至小肠,与长发公主综合征一致。胃三叶通过相互交错的毛发纤维与回肠中段的三叶相连。在小肠的多个位置,由于肠道蠕动沿相互连接的毛发纤维产生的张力,出现了钩状线性穿孔,造成粘膜溃疡和跨膜压迫性坏死,需要进行大范围的小肠切除。最终,我们进行了小肠端端吻合术,并放置了胃造瘘管。术后第 6 天,通过造影检查确认没有肠漏后,我们开始使用胃造瘘管喂食。她出现了表皮伤口感染,通过抗生素和负压伤口疗法进行了处理。她在术后第 23 天出院,可以正常饮食,目前正在接受心理治疗。当存在两个三叶虫时,相互连接的毛发纤维会导致小肠穿孔。
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引用次数: 0
Jejunal perforation secondary to dog bite: A case report 继发于狗咬伤的空肠穿孔:病例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-09-11 DOI: 10.1016/j.epsc.2024.102880
Abel Girma Demessie , Suleiman Ayalew , Michael A. Negussie , Leaynadis Kassa , Asratu Getnet Amare , Mesfin Tesera Wassie

Introduction

Dog bites commonly result in soft tissue injuries and infections, but rarely cause intestinal perforation.

Case presentation

A 9-year-old male presented with abdominal distension and vomiting three days after being bitten in the abdomen by a stray dog. He was not evaluated immediately after the injury. One day later he developed abdominal distension, difficulty passing stool and gas, non-projectile vomiting, and intermittent high-grade fever. Two days after these symptoms began, he visited a local health center where he was started on antibiotics and was referred to our hospital for further care. On arrival, he was febrile, tachycardic, tachypneic, irritable, had a normal oxygen saturation and a Glasgow Coma Scale of 15. Abdominal examination revealed distension, diffuse tenderness, absent bowel sounds, and visible bite marks in the left lumbar and iliac regions. Blood tests were normal. A plain abdominal X-ray showed pneumoperitoneum. Suspecting a bowel perforation, the patient was taken to the operating room for an exploratory laparotomy. Approximately 200 ml of pus were found in the peritoneal cavity, along with a pinpoint jejunal perforation 30 cm from the ligament of Treitz, and a serosal tear 3 cm distal to it. The involved jejunal segment was resected, followed by a primary end-to-end jejunal anastomosis. Oral feedings were initiated on postoperative day four. The recovery was uneventful and at the two-week follow-up, he was in good health.

Conclusion

Intestinal perforation following a dog bite, although rare, should be considered in patients presenting with abdominal symptoms after such injuries.

病例介绍 一名 9 岁的男性在被一只流浪狗咬伤腹部三天后出现腹胀和呕吐症状。受伤后没有立即对他进行评估。一天后,他出现腹胀、排便和排气困难、非喷射性呕吐和间歇性高烧。出现这些症状两天后,它到当地一家医疗中心就诊,医生给它注射了抗生素,并将它转到我院接受进一步治疗。到达医院时,他发热、心动过速、呼吸急促、烦躁不安,血氧饱和度正常,格拉斯哥昏迷量表为 15。腹部检查发现腹胀、弥漫性压痛、肠鸣音消失,左腰部和髂部有明显咬痕。血液化验结果正常。腹部 X 光片显示腹腔积气。由于怀疑是肠穿孔,患者被送进手术室进行了剖腹探查术。在腹腔中发现了约 200 毫升脓液,以及距特雷兹韧带 30 厘米处的针尖状空肠穿孔和距其远端 3 厘米处的浆膜撕裂。患者的空肠被切除,随后进行了空肠端端吻合术。术后第四天开始口服进食。结论:被狗咬伤后出现肠穿孔的情况虽然罕见,但如果患者在受伤后出现腹部症状,则应考虑到这种情况。
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引用次数: 0
Submucosal angiogenesis in traction-induced esophageal lengthening for long-gap esophageal atresia: A case report 治疗长间隙食管闭锁的牵引诱导食管延长术中的粘膜下血管生成:病例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-09-11 DOI: 10.1016/j.epsc.2024.102879
Parker T. Evans , Laura Stafman , Hernan Correa , Maren Shipe , Harold Lovvorn III , Jamie Robinson

Introduction

Traction-induced growth (Foker procedure) is a method for esophageal lengthening when primary anastomosis is not feasible in long-gap type A esophageal atresia (EA). We sought to identify the source of esophageal vascularization after thoracoscopic internal traction by analyzing markers of angiogenesis in resected esophageal pouch tips.

Case report

A child with Type A EA underwent esophageal lengthening with internal traction. In addition to EA, the patient also had trisomy 21, duodenal atresia, intestinal malrotation, and congenital heart disease. Operations for EA included thoracoscopic esophageal traction system placement at 7 months of age, and 5 subsequent tightening procedures over the following month. Baseline esophageal gap length was 5.5 cm without tension and 4 cm at maximal tension. Gap length was 3.6 cm, 1.4 cm, 1.3 cm, 7 mm, and 5 mm after each tightening procedure, respectively. Final esophageal anastomosis was done at 8 months of age. At the time of the anastomosis, angiogenic vessels were grossly visible at the ends of each esophageal pouch and indocyanine green fluorescence angiography demonstrated vascularization. Resected samples of the esophageal pouches were analyzed with immunohistochemistry for expression of ERG, a marker of angiogenesis. The patient who underwent traction demonstrated increased submucosal ERG expression (average 6.30 % cells) compared to 5 control patients who did not require traction-based lengthening to achieve anastomosis (average 1.34 % cells).

Conclusion

Thoracoscopic traction with serial tightening achieves adequate growth to restore esophageal continuity in patients with long-gap EA. Our findings suggest that anastomotic blood supply relies upon submucosal angiogenesis.

导言当长间隙A型食管闭锁(EA)无法进行初次吻合时,牵引诱导生长(Foker术)是一种食管延长方法。我们试图通过分析切除食管袋尖端的血管生成标记物来确定胸腔镜内牵引术后食管血管生成的来源。除 EA 外,患者还患有 21 三体综合征、十二指肠闭锁、肠旋转不良和先天性心脏病。EA手术包括在患者7个月大时进行胸腔镜食管牵引系统置入手术,以及随后一个月内的5次紧缩手术。无牵引时的食管间隙基线长度为 5.5 厘米,最大牵引力时为 4 厘米。每次收紧后,间隙长度分别为 3.6 厘米、1.4 厘米、1.3 厘米、7 毫米和 5 毫米。最终的食管吻合术在孩子 8 个月大时完成。吻合时,每个食管袋的末端都能看到毛细血管,吲哚菁绿荧光血管造影也显示了血管的形成。切除的食管袋样本用免疫组化方法分析了血管生成标记物 ERG 的表达。接受牵引的患者粘膜下 ERG 表达增加(平均 6.30 % 细胞),而 5 名对照组患者不需要通过牵引延长来实现吻合(平均 1.34 % 细胞)。我们的研究结果表明,吻合口的血液供应依赖于粘膜下血管生成。
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引用次数: 0
Segmental absence of intestinal musculature in a newborn: A case report 新生儿肠道肌肉节段性缺失:病例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-09-11 DOI: 10.1016/j.epsc.2024.102878
Faiha Fareez , Daniella Rangira , Farah Abdulsatar , Miranda Schell , Sarab Hameed Mohamed

Introduction

Intestinal musculature defects leading to intestinal obstruction and perforation in children are rare and poorly understood.

Case presentation

Our case is of a 3-day-old term male infant who was brought to the emergency department with symptoms of bilious emesis and poor feeding, and not having passed meconium. Pre-natal assessment and antenatal assessments did not raise any concerns for serology abnormalities or dysmorphic features, and he had good APGAR scores. The patient had a patent anus with abdominal distension. Initially, a plain abdominal X-ray was suspicious for Hirschsprung's disease due to narrowing of the terminal descending colon. On day 7 of life, he developed spontaneous bowel perforation. A right hemicolectomy was performed on the same day, and subsequent gross pathological assessment demonstrated a focal muscularis propria defect. Histological examination confirmed the presence of ganglion cells, ruling out Hirschsprung's disease. Immunohistochemical stains confirmed the absence of muscularis mucosa in small foci, which lead to a diagnosis of segmental absence of intestinal musculature (SAIM). While a repeat laparotomy was required shortly after due to complications, he is now feeding well and gaining weight appropriately.

Conclusion

Segmental absence of intestinal musculature should be included in the differential diagnosis of newborns with symptoms of functional intestinal obstruction in whom Hirschsprung's disease has been ruled out.

导言:肠道肌肉组织缺陷导致儿童肠梗阻和肠穿孔的病例非常罕见,人们对其了解甚少。我们的病例是一名出生 3 天的足月男婴,因胆汁淤积、喂养不畅和未排出胎粪等症状被送入急诊科。产前评估和产前检查均未发现血清学异常或畸形特征,APGAR 评分良好。患者肛门通畅,腹部膨胀。由于末端降结肠狭窄,腹部 X 光片初步怀疑是赫氏病。出生后第 7 天,他出现了自发性肠穿孔。当天对他进行了右半结肠切除术,随后的病理评估显示他有局灶性固有肌缺损。组织学检查证实了神经节细胞的存在,排除了赫氏病的可能性。免疫组化染色证实小灶内没有粘膜肌肉,因此诊断为节段性肠道肌肉缺失(SAIM)。结论对于有功能性肠梗阻症状且已排除赫氏病的新生儿,应将节段性肠肌缺失纳入鉴别诊断。
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引用次数: 0
Indocyanine green guided resection of a mediastinal teratoma: A case report 吲哚菁绿引导下的纵隔畸胎瘤切除术:病例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-09-11 DOI: 10.1016/j.epsc.2024.102882
Zachary Ballinger , Ezdean Alkurdi , Muriel Cleary , Jonathan Green , Kaitlyn Wong , Jeremy Aidlen

Introduction

Mediastinal teratomas present unique surgical challenges during resection. Here, we describe a novel use of Indocyanine Green (ICG) for real time identification of tumor borders and resection planes of a malignant mediastinal teratoma and right lung nodule.

Case presentation

A 13-year-old male with Klinefelter's Syndrome presented for right upper quadrant pain, difficulties walking and eating, and with elevated alpha-fetoprotein (AFP) and beta human chorionic gonadotropin (β-hCG). A CT scan demonstrated a lobulated right-sided mediastinal mass, as well as an isolated right middle lobe lung nodule. The patient underwent elective resection. He was injected with 3 mg/kg ICG one day prior to his planned operation. After median sternotomy, ICG imaging aided in the identification of the mediastinal mass, tumor borders and resection planes, particularly where the tumor was continuous with the right lobe of the thymus and along the deeper structures of the mediastinum. The right lung nodule was similarly visualized and resected. Pathologic examination of the mass revealed components of immature teratoma, choriocarcinoma, yolk sac tumor, and seminoma. The lung nodule demonstrated only chronic inflammation and compressive atelectasis from the tumor's mass effect. The patient recovered well and was discharged on post operative day 6. He follows with the oncology team for outpatient chemotherapy.

Conclusion

Though rare, teratomas in the mediastinum can occasionally be malignant and have the potential to involve adjacent structures, thereby creating a technical challenge at surgery. This case demonstrates the usefulness of ICG for intraoperative visualization of tumors to facilitate safe resection and improved outcomes.

导言纵隔畸胎瘤在切除过程中给外科手术带来了独特的挑战。病例介绍 一名患有克氏综合征(Klinefelter's Syndrome)的 13 岁男性患者因右上腹疼痛、行走和进食困难、甲胎蛋白(AFP)和β 绒毛膜促性腺激素(β-hCG)升高而就诊。CT 扫描显示右侧纵隔有分叶肿块,以及一个孤立的右中叶肺结节。患者接受了选择性切除术。他在计划手术前一天注射了 3 mg/kg ICG。胸骨正中切开术后,ICG成像帮助确定了纵隔肿块、肿瘤边界和切除平面,尤其是肿瘤与胸腺右叶连续的部位以及纵隔深部结构。右肺结节也同样被观察到并切除。肿块的病理检查显示有未成熟畸胎瘤、绒毛膜癌、卵黄囊瘤和精索瘤的成分。肺部结节仅表现为慢性炎症和肿瘤肿块效应导致的压迫性肺不张。患者恢复良好,术后第 6 天出院。结论纵隔畸胎瘤虽然罕见,但偶尔也可能是恶性的,并有可能累及邻近结构,从而给手术带来技术挑战。本病例显示了 ICG 在术中观察肿瘤以促进安全切除和改善预后方面的作用。
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引用次数: 0
Perianal and gluteal lipomatosis in a child: A case report 一名儿童的肛周和臀部脂肪瘤病:病例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-09-10 DOI: 10.1016/j.epsc.2024.102874
Juan R. Medina-Morell , Kenneth Avilés-Fernández , Zabeth Krystal Hernandez-Sanchez , Victor Ortiz-Justiniano

Introduction

Angiolipomatosis is a rare benign condition involving subcutaneous fat and blood vessels, particularly uncommon in pediatric patients.

Case presentation

An 11-year-old male presented with multiple firm, non-tender masses in the right gluteal and perianal regions, the largest measuring 8 cm for approximately 8 months duration. The patient underwent staged surgical excisions under general anesthesia due to extensive disease burden. In the first stage, perianal and medial gluteal masses were excised. Lipomatous masses were carefully dissected from the external anal sphincter to the posterior superior iliac spine (PSIS) with preservation of the external anal sphincter. The procedure was well tolerated, but the patient developed a postoperative wound infection, requiring intravenous antibiotics, debridement, and the creation of a loop colostomy to control wound contamination. Six weeks later, a second-stage excision removed the remaining gluteal masses, including a palpable mass measuring 8 x 4 × 2.5 cm. Hemostasis was achieved, and a Jackson-Pratt drain was placed to manage post-op wound fluid accumulation. The patient recovered well after both surgeries and at the 3-month follow-up, there were no complications. Pathological analysis confirmed angiolipomatosis in the gluteal region and diffuse lipomatosis in the perianal region. No recurrence was observed over a 3-year follow-up period.

Conclusion

Angiolipomatosis should be considered as a differential diagnosis for pediatric soft tissue masses in uncommon locations like the gluteal and perianal regions. Atypical presentations can be successfully managed with careful surgical planning helping to avoid unnecessary radical procedures. A staged approach is recommended when encountering diffuse disease, as in this case, and consideration should be given to diverting ostomy if wound contamination is a concern.

导言血管脂肪瘤病是一种罕见的累及皮下脂肪和血管的良性疾病,在儿童患者中尤为罕见。病例介绍一名 11 岁的男性患者因右侧臀部和肛周出现多个坚实、无触痛的肿块而就诊,最大的肿块达 8 厘米,病程约 8 个月。由于疾病范围广泛,患者在全身麻醉下接受了分期手术切除。在第一阶段,切除了肛周和臀部内侧肿块。在保留肛门外括约肌的情况下,从肛门外括约肌到髂后上棘(PSIS)仔细切除了脂肪瘤。患者对手术的耐受性良好,但术后出现伤口感染,需要静脉注射抗生素、清创,并建立环状结肠造口术以控制伤口污染。六周后,第二阶段切除术切除了剩余的臀部肿块,包括一个可触及的肿块,大小为 8 x 4 x 2.5 厘米。术中止血成功,并放置了杰克逊-普拉特引流管来处理术后伤口积液。两次手术后患者恢复良好,3个月随访时未出现并发症。病理分析证实臀部有血管脂肪瘤,肛周有弥漫性脂肪瘤。结论对于臀部和肛周等不常见部位的小儿软组织肿块,应将血管脂肪瘤病作为鉴别诊断。通过仔细的手术规划,可以成功处理非典型表现,避免不必要的根治性手术。在遇到像本病例这样的弥漫性疾病时,建议采用分期手术的方法,如果担心伤口污染,应考虑将造口引流。
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引用次数: 0
“Wolf-Hirschhorn syndrome presenting with imperforate anus: A case report” "沃尔夫-赫希霍恩综合征伴有肛门穿孔:病例报告"
IF 0.2 Q4 PEDIATRICS Pub Date : 2024-09-10 DOI: 10.1016/j.epsc.2024.102876
Miguel Serpa Irizarry , Gabriela Rosado-Gonzalez , Victor Ortiz-Justiniano

Introduction

Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disorder caused by a partial deletion of the short arm of chromosome 4 (4p-). First described in 1961, this syndrome has a 2:1 female predominance and an estimated frequency of 1/50,000–1/20,000. The phenotypic spectrum of WHS is wide and encompasses multiple organ systems including intrauterine growth restriction, distinctive craniofacial anomalies, global developmental delay and intellectual disability.

Case presentation

We present the case of a hispanic male who was born at 39 WGA via C-Section to a 28 y/o G3P1A1 mother without past medical history. The patient experienced intrauterine growth restriction which triggered further prenatal evaluation revealing a 36.14 mb terminal deletion of 4p16.3- > p14 and he was diagnosed with Wolf-Hirschhorn Syndrome. At birth, physical exam was remarkable for a wide nose, cleft lip and cleft palate, hypertelorism, micrognathia, and bilateral corneal clouding. Musculoskeletal exam showed bilateral clubbed feet and genitourinary exam revealed, bifid scrotum with undescended testes. Anorectal examination was pertinent for an imperforate anus without associated fistulas or abscess. After chest x-ray, abdominopelvic ultrasound and echocardiogram ruled out any major contraindication for surgery, he was managed with end colostomy and mucus fistula for fecal diversion. Due to history of poor feedings during the postnatal period, gastrostomy tube placement was also performed. The patient was discharged home at day 26 without immediate postoperative complications.

Conclusion

We herein present possibly the first case of a male with WHS born with an imperforate anus that was managed surgically with end colostomy and mucus fistula. This case underscores the complexity and severity of WHS, by adding to its myriad of clinical manifestations and emphasizing the importance of reporting novel presentations and their management to improve care strategies for patients with WHS.

导言沃尔夫-赫希霍恩综合征(Wolf-Hirschhorn Syndrome,WHS)是一种罕见的遗传性疾病,由 4 号染色体短臂(4p-)部分缺失引起。该综合征于 1961 年首次被描述,女性患者占 2:1,发病率约为 1/50000-1/20000。WHS 的表型范围很广,涵盖多个器官系统,包括宫内生长受限、独特的颅面畸形、全身发育迟缓和智力障碍。病例介绍 我们现在介绍的病例是一名西班牙裔男性,母亲为 28 岁的 G3P1A1,他于 39 WGA 时通过剖腹产出生,无既往病史。患者出现宫内生长受限,进一步产前评估发现 4p16.3- >p14末端缺失36.14 mb,被诊断为沃尔夫-赫希霍恩综合征(Wolf-Hirschhorn Syndrome)。出生时的体格检查显示,他有宽鼻、唇裂和腭裂、脊柱前凸、小颌畸形和双侧角膜混浊。肌肉骨骼检查显示双侧挛缩足,泌尿生殖系统检查显示阴囊双裂,睾丸未降。肛门直肠检查显示肛门穿孔,但没有相关的瘘管或脓肿。胸部X光、腹盆腔超声波和超声心动图检查排除了手术禁忌症后,他接受了结肠末端造口术和粘液瘘粪便转流术。由于产后喂养不良,还进行了胃造瘘管置入术。结论我们在此介绍了可能是第一例男性先天性肛门无孔的 WHS 患者,该患者通过结肠造口术和粘液瘘进行了手术治疗。本病例强调了 WHS 的复杂性和严重性,增加了 WHS 的多种临床表现,并强调了报告新病例及其处理方法以改善 WHS 患者护理策略的重要性。
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Journal of Pediatric Surgery Case Reports
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