Hereditary leiomyomatosis and renal cell cancer (HLRCC): Case series and review of the literature

BackgroundHereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants in the fumarate hydratase (FH) gene. It is characterized by cutaneous and uterine leiomyomas and an increased risk of developing renal cell carcinoma (RCC). HLRCC-related RCC tends to be aggressive. To date, only a few publications have described HLRCC-related RCC, and the clinical, morphological and molecular aspects of HLRCC-related RCC need to be further studied.MethodsWe retrospectively analyzed the clinical and pathological data of 3 patients with HLRCC recently diagnosed. Immunohistochemistry and Whole-exome sequencing was performed on 3 patients. The function of the DNA variant was predicted in silico.ResultsWe reported 3 patients from unrelated Chinese families, with HLRCC-related RCC and identified 3 different germline FH mutations (2 missense and 1 nonsense). A novel missense mutation of FH gene (c.454A>G, p.N152D) was predicted to be probably pathogenic and deleterious by multiple protein function predicting software. This study indicated that the novel mutation may be responsible for the occurrence of HLRCC-related RCC. 100% (2/2) female RCC patients had uterine fibroids. No cutaneous manifestations were identified.ConclusionWe indicate that germline screening should be encouraged in early-onset patients. Clinicopathological data, such as family history and immunohistochemical results can provide valuable clinical information for the differential diagnosis of HLRCC-associated RCC in advance.     

Foot and ankle tuberculosis: Case series and literature review

Foot and ankle tuberculosis (TB) is a rare presentation of skeletal TB. The uncommon site along with low index of clinical suspicion in the western world leads to delays in the diagnosis and treatment. This can make joint sparing procedures less successful, especially in the midfoot where the joints can often be interconnected. Plain radiographs have low sensitivity and specificity and cross sectional imaging in the form of MRI or CT is more reliable. Treatment involves the use of multiple anti-tuberculous drugs in the first instance, followed by surgery to address any symptomatic deformity and/or secondary degenerative changes. We present our experience on the management of this rare problem and review the literature on the clinical presentation, diagnosis, imaging modalities and treatment.     

Primary paraganglioma of urinary bladder: Case series and review of the literature

Paragangliomas of the urinary bladder (PUB) are uncommon and represent less than 1 per cent of all bladder tumours. They can manifest with classic symptoms and signs similar to those of adrenal pheochromocytoma, but the clinical presentation could be nonspecific. Preoperative diagnosis of this uncommon condition is difficult but important, owing to the potential for catecholamine crisis during surgery. In the present study, we review our experience of four cases of PUB and review the literature on this condition.     

Appendicitis in abdominal wall hernia: Case series and literature review

Appendicitis in hernia is a rare disease entity. It usually presents with symptoms and signs of incarcerated hernia, and accurate preoperative diagnosis is difficult. Management includes appendicectomy and hernia repair. Different approaches of appendicectomy have been proposed, including transherniotomy, transabdominal and laparoscopic routes. In this case series, three cases of appendicitis inside different types of abdominal wall hernias, namely incisional, inguinal and Spigelian, are described. A literature review was also performed. Scientific evidence is lacking, and the optimal management remains to be defined.     

Leiomyosarcoma metastases to the spine. Case series and review of the literature

Leiomyosarcoma is a rare malignant smooth-muscle tumor that rarely metastasizes to bone. It is extremely uncommon for osseous metastasis to be the initial presentation of leiomyosarcoma or to be the initial manifestation of recurrence in patients with a history of leiomyosarcoma. The authors have treated four cases of metastatic leiomyosarcoma with the lesion initially presenting in the spine, and a fifth case of disseminated leiomyosarcoma that involved the spine. In their report, they highlight the cases of two of these patients and provide tabular data for the remaining three. The authors performed a comprehensive review of the literature on spinal leiomyosarcomas and retrospective chart reviews of five surgically treated patients in whom a spinal metastatic leiomyosarcoma was diagnosed. Their series consists of five women who ranged in age from 36 to 47 years (mean age 43.2 years). Four patients had known, or presumed, uterine primary lesions, whereas one harbored a retroperitoneal primary tumor. These lesions generally appear as lytic foci on imaging studies, but variable imaging characteristics were observed. All cases were managed aggressively: four patients underwent posterior/posterolateral decompression and fusion, and one underwent anterior-posterior en bloc resection and fusion. In all cases preoperative symptoms resolved. Two patients died 9 and 13 years after initial presentation. The remaining patients are alive and neurologically intact. Metastatic spinal leiomyosarcomas tend to symptomatically involve only one spinal level at the time of diagnosis and are known to recur locally. These lesions commonly affect women in early middle age, and long-term survival, even in those with systemic metastatic lesions, is better than that seen in individuals with more aggressive spinal metastases. Attempted gross-total resection with fusion, as opposed to minimal palliative decompression, is recommended.     

Phyllodes tumour with heterologous sarcomatous differentiation: Case series with literature review

IntroductionPhyllodes tumours are rare fibroepithelial malignancies of the breast, accounting for less than 1% of malignant breast tumours. Further malignant differentiation of phyllodes tumours can occur, resulting in cases of extremely rare heterologous sarcomatous differentiation.Presentation of caseTwo females in their fifties were diagnosed with malignant phyllodes tumour associated with heterologous sarcomatous differentiation. The first patient, aged 50 had phyllodes tumour with chondrosarcoma, osteosarcoma and ductal carcinoma-in-situ. The second patient, aged 53 had phyllodes tumour with osteosarcoma and liposarcoma.DiscussionThe association of phyllodes tumour and heterologous sarcomatous differentiation is rare, with only 4 previously reported cases in English literature. The paucity of evidence presents challenges in its management with uncertain prognosis and monitoring requirements for two aforementioned patients.ConclusionFurther case series and long-term follow up is required for accurate characterisation of phyllodes tumours with heterologous sarcomatous differentiation.     

Minimally invasive appendectomy for resection of appendiceal mucocele: Case series and review of the literature

IntroductionAppendiceal mucoceles encompass neoplastic and non-neoplastic causes of a distended Appendix filled with mucus. Appendectomy is recommended when an appendiceal mucocele is identified, incidentally or otherwise, in the event it is secondary to a malignancy. For an intact mucocele, it is critically important to avoid rupturing the mucocele during resection, as rupture of a neoplastic mucocele can result in pseudomyxoma peritonei, or mucin deposits in the peritoneum, which is associated with long-term morbidity and mortality. For this reason, laparotomy is the traditionally recommended surgical approach for treatment.Presentation of casesIn our case series, we describe two patients, a 49-year-old woman and a 79-year-old man, with incidentally identified appendiceal mucoceles. These patients were successfully treated with minimally invasive approaches to appendectomy, one with a robotic approach and one with a hand-assisted laparoscopic approach. The mucoceles were removed without rupture, and both patients recovered well postoperatively without complication.DiscussionWhile laparotomy is the traditionally recommended surgical approach for resection of appendiceal mucoceles, certain minimally invasive techniques allow for safe removal of the mucoceles while minimizing the morbidity of laparotomy.ConclusionMinimally invasive approaches to appendenctomy, specifically the robotic-assisted approach and the hand-assisted laparoscopic approach, can be considered for safe resection of appendiceal mucoceles.     

下腔静脉内平滑肌瘤病诊治分析

目的 总结下腔静脉内平滑肌瘤病的诊治经验.方法 回顾性分析1998年3月至2007年4月收治的8例下腔静脉内平滑肌瘤病患者的临床资料,并随访观察其疗效.结果 8例患者中4例术前经下腔静脉造影同时取活检术前诊断为下腔静脉内平滑肌瘤病.8例患者中有1例拒绝手术治疗,14个月后猝死.接受手术治疗的7例患者术后病理示IVL,其中除1例死于术中大出血,1例术后2年复发外,其余5例无严重并发症,术后随访7～65个月,平均随访29个月,已恢复正常生活.结论 下腔静脉内平滑肌瘤病多源于子宫平滑肌瘤,是一种雌激素依赖性肿瘤.下腔静脉造影的同时取活组织检查是术前诊断下腔静脉内平滑肌瘤病的有效方法.手术切除肿瘤是惟一有效的治疗方法,同时应进行抗雌激素治疗,近期疗效满意.     

Management of splenic trauma in the pediatric hemophiliac patient: Case series and review of the literature

In July and August 1998, 3 patients who attend the Hemophilia Treatment Center required emergency admission to the authors' hospital for management of hemorrhagic shock caused by splenic injury. Computed tomography was used to diagnose and grade the splenic injuries, which ranged from II to IV on the organ injury scale. Two patients had Christmas disease (Factor IX deficiency) and were treated with splenorrhaphy and factor IX replacement. One patient who has severe von Willebrand disease (Type 3) had grade II splenic injury that required splenectomy to secure hemostasis. The coagulopathic deficiency was aggressively treated in each patient. All patients required operative intervention with attempted splenorrhaphy. All patients survived their operative experience, and none suffered a rebleeding episode. With correction of the coagulopathy throughout the perioperative period and local hemostatic control by operative techniques, salvage procedures for splenic injury were successful for 2 of these 3 patients.     

Atlantoaxial osteoarthritis: case series and review of the literature

The intention of this study is to present our experience in the surgical treatment of painful atlantoaxial osteoarthritis (AAOA) and review the literature on this subject. Osteoarthritis of the atlantoaxial joints is more common than is generally suspected. It has a prevalence between 5 and 18%. Only a minority of patients becomes symptomatic suffering from severe suboccipital pain, irradiating into the occiput, vertex and sometimes as far as the eyes. Most often, these patients can successfully be treated conservatively. Some of these patients however require operative treatment. The study includes five patients with painful AAOA (one posttraumatic, four idiopathic) not responding to conservative treatment for a minimum of six months. Rheumatoid arthritis was excluded. All but one patient were female and all but one patient were over 50 years old (mean 64 years). The origin of pain was confirmed by diagnostic C1–C2 facet blocks in all patients. The patients were treated with a C1–C2 transarticular screw fixation and Gallie type fusion. Patients were followed clinically and radiologically for a minimum of 24 months. Mean follow-up was 38 months (24–48). In all patients the typical pain disappeared immediately after surgery and has not reoccurred. Pain intensity on the VAS decreased from 100 to 34. At the latest follow-up radiologically solid fusion and stable implants were found in all cases. All five patients would undergo this surgery for the same condition again. C1–C2 fusion effectively relieves occipitocervical pain in AAOA non responsive to conservative treatment.     

Intravenous leiomyomatosis with involvement of the right heart

Background

Intravenous leiomyomatosis with right cardiac extension is a rare entity that poses a challenge for the surgeon. Herein, we present a successful, multidisciplinary management of such a case.

Case report

A 43-year-old female presented with recurrent lower extremity oedema and pain, symptoms which were more pronounced on the right side. Although radiological exams did not reveal lower extremity deep venous thrombosis, because of the persistent nature of the symptoms an MRI was performed which revealed uterine wall thickening and inferior vena cava thrombus, extending all the way into the right heart. Given the suspicion of malignancy and the patient’s young age and symptoms, a thoracoabdominal surgical approach was decided, and the patient was placed on a cardiopulmonary bypass. The intraluminal thrombus from the IVC and the right heart was removed, and a hysterectomy with bilateral salpingoophorectomy was performed. Pathological examination revealed intravenous leiomyomatosis. The patient had an uneventful postoperative course and was discharged on the twelfth postoperative day. Eighteen months later, she continues to be well.

Conclusions

Successful surgical management of intravenous leiomyomatosis, even when the right heart is involved, is possible when a multidisciplinary approach is undertaken.     

Ischemic proctitis: case series and literature review

Ischemic injury to the rectum is rare owing to its rich vascular supply, and is seldom seen in clinical practice. Risk factors include major vascular occlusive disease, disruption of collateral circulation, and low flow state. It is of paramount importance to diagnose this entity early in its course. Although CT scan can suggest the diagnosis and identify other causes of clinical deterioration, colonoscopy remains the key test in diagnosing and determining the extent of ischemic change. Endoscopic findings and the overall clinical picture determine patient management. Treatment is nonoperative for nongangrenous ischemic proctocolitis, whereas surgery is necessary for gangrenous, transmural rectal ischemia. Over a 20-year period, a retrospective review of cases of acute rectal ischemia were analyzed. Aortoiliac occlusive disease accounted for nearly one-half the cases (7/15), and 40 per cent (6/15) was secondary to a low flow state. In our series, two-thirds of the cases involved transmural necrosis of the rectal wall (40% mortality) and the remaining one-third presented with patchy ischemic changes (20% mortality).     

Hemipelvectomy hernia: case series and literature review

Hernia - Hemipelvectomy is a major operation in which significant portions of the pelvic girdle and lower extremity are resected. The development of hernia following hemipelvectomy is a complex...     

Acute traumatic rupture of the patellar tendon in pediatric population: Case series and review of the literature

BackgroundIntact knee extensor mechanism is required for the normal function of the lower extremity. Patellar tendon rupture is a relatively rare injury with peak age incidence around 40 years and usually occurs midsubstance. The occurrence of pure patellar tendon rupture without bony avulsion is an extremely rare injury in the pediatric population with few cases reported in the literature with limited information regarding frequency, complications, and outcomes in children. However, due to increased participation in sports and high-energy recreational activities during childhood, the frequency of such injuries has progressively increased.ObjectiveTo evaluate the frequency of pediatric patellar tendon rupture injuries and describe the radiological findings, treatment modalities, and outcome of such injuries.MethodsDemographic and clinical data on a series of patients who sustained patellar tendon rupture were reviewed. These data included age at time of injury, sex, laterality, mechanism of injury, associated injuries, complications, presence or absence of Osgood-Schlatter disease, diagnostic imaging such as plain radiographs and magnetic resonance images (MRI), surgical technique, method of fixation, period of postoperative immobilization, total duration of physiotherapy, time to return to sports activities and follow-up duration. Insall-Salvati ratio was calculated on the preoperative lateral x-ray. The functional outcome was evaluated with regard to final knee active range of motion (AROM), manual quadriceps muscle testing, and presence or the absence of terminal extension lag. Clinical outcome rating using knee society score (KSS) was performed and functional outcome was further classified according to the calculated score.ResultsFive male patients with patellar tendon rupture (7%) were identified among 71 pediatric patients who sustained acute traumatic injury of the knee extensor mechanism. The mean age at the time of injury was 13.6 years (range: 12–15 years). The injury occurred in relation to sports activities in 4 patients. Osteogenesis imperfecta and Osgood-Schlatter disease were identified in 2 patients. High riding patella is the hallmark diagnostic sign detected in plain x-ray with preoperative Insall-Salvati ratio ranged from 1.7 to 2.5. Three patients had pure soft tissue avulsion distally from the proximal tibia, 1 patient had pure soft tissue avulsion proximally from the inferior patellar pole, and 1 patient with midsubstance tendinous disruption. No associated intra-articular lesions were identified. Suture bridge double row technique, transpatellar suturing, and transosseous suturing through the proximal tibia were used for patellar tendon reinsertion. After a mean follow-up period of 18. 4 weeks (range: 10–30 weeks), patients achieved AROM ranging from 0 to 120° to 0–137° without terminal extension lag. The mean time to return to sports activity was 22 weeks (range: 13–30 weeks). Quadriceps muscle strength was 5/5 at the final follow-up visit in all patients; however, relative muscle atrophy was noted in comparison to the other side in one patient. The mean KSS was 91.8 points (range: 79–100 points) with excellent outcome in 4 patients and good outcome in 1 patient.ConclusionPatellar tendon rupture is rare in the pediatric population and represents 7% of pediatric patients who sustained acute traumatic injury of the knee extensor mechanism. Ruptures may occur midsubstance, or from proximal or distal insertions. High riding patella is the hallmark diagnostic sign for such injury. Although rare, it is considered a serious injury that necessitates early diagnosis and surgical intervention. Functional range of motion was obtained in all patients with different modalities of treatment.