The different features of congenital neuroblastomas: report about the sonographic diagnosis of three cases

We report on three infants with congenital neuroblastoma. Two clinically asymptomatic infants showed a suprarenal right-sided mass, one infant had a mediastinal tumour with tracheal compression causing immediate postnatal dyspnoea. Diagnosis was established by ultrasonography showing hypoechoic tumours without significant calcifications. The two suprarenal masses were characterised by small cystic areas. Colour coded Doppler sonography revealed perfusion of the tumours distinguishing the suprarenal masses from adrenal haemorrhage. The right-sided mediastinal neuroblastoma showed infiltration of the intervertebral foramina and spinal canal without spinal cord compression. All tumours were surgically removed with favourable clinical outcome.     

Antenatal sonographic diagnosis of epignathus at 15 weeks of pregnancy.

Epignathus is a rare, benign, congenital teratoma of the hard palate. Most of these teratomas are unidirectional and protrude through the mouth. Hence, the prognosis depends on the size of the tumor and the degree of face distortion and airway obstruction that it causes. However, some epignathi protrude bidirectionally, involving and destroying the brain tissue, resulting in a poor prognosis. This report presents a case of ultrasonographic detection of a bidirectional epignathus at 15 weeks of pregnancy.     

Role of Doppler sonography in the diagnosis of cystic lymphangioma of the scrotum

Cystic lymphangioma is a congenital lymphatic malformation that is a rare cause of extratesticular scrotal masses in children; it is frequently misdiagnosed preoperatively. Complete excision is curative, but recurrence may result from incomplete excision. We report a case of cystic lymphangioma of the scrotum in a 3-year-old boy, which had been previously diagnosed as a hydrocele. Gray-scale sonography showed a multicystic extratesticular lesion; color Doppler sonography further characterized the lesion by showing blood flow within the septa. CT scanning ruled out extrascrotal involvement. The cystic mass was surgically resected. The appearance of the lesion both macroscopically and microscopically was consistent with a diagnosis of cystic lymphangioma. The child recovered uneventfully and was discharged on the third day after surgery; no evidence of recurrence was found in 6 months of follow-up. In such cases of scrotal masses in children, gray-scale and color Doppler sonography, followed by CT or MRI, are useful in diagnosing cystic lymphangioma, differentiating it from other lesions, and defining its extent, thus allowing proper surgical planning.     

Prenatal 3D sonography of an isolated lateral facial cleft

Lateral facial cleft is a rare congenital anomaly, but all affected infants require surgery under general anesthesia. Conventional 2‐dimensional coronal view of the face, which is typically used for identification of facial clefts, has limitations with regard to detection of this anomaly. We describe a case of prenatal diagnosis of isolated lateral facial cleft made with 3D sonography and highlight the importance of this tool in the diagnosis of this rare facial deformity.     

双侧先天性第一鳃裂瘘一例报告

目的总结双侧先天性第一鳃裂瘘的诊治经验,提高手术切除第一鳃裂瘘的安全性和治愈率。方法回顾性分析双侧先天性第一鳃裂瘘1例的临床诊治资料。结果本例间隔半年均以耳部疼痛流脓并耳垂后肿痛就诊,专科检查结合耳后B超确诊为第一鳃裂瘘,子切除术。本例双侧先天性第一鳃裂瘘均一次手术治愈。右侧随访18个月、左侧随访12个月,双侧均无复发。结论第一鳃裂瘘临床比较少见,症状、体征不典型,病理检查是确诊的重要依据,手术彻底切除病变组织是治愈本病的唯一方法。     

Prenatal ultrasound and magnetic resonance imaging findings of a hypovascular epignathus with a favorable prognosis

Epignathus of a fetus is an extremely rare type of an oropharyngeal teratoma that commonly arises from the palate and often grows in the prenatal period, leading to polyhydramnios due to difficulty in swallowing before birth and a high mortality due to the airway obstruction after birth. We report here a very rare case of a fetus with an epignathus decreasing in size naturally in the prenatal period with a favorable prognosis. In contrast to previously reported cases of epignathus that grew rapidly in the prenatal period, color Doppler fetal ultrasound showed a hypovascular tumor in our case. Moreover, histopathologic examination revealed an epignathus with necrotic areas inside. Based on our experience, a hypovascular epignathus demonstrated by color Doppler fetal ultrasound may be an indicator of a favorable prognosis.     

Glomus caroticum chemodectoma. Review on current diagnosis and therapy

Carotid body tumors are rare neoplasms arising from the small chemoreceptor organ in the adventitia of the common carotid bifurcation. Patients with carotid body tumours usually present with a gradually enlarging non-tender anterolateral neck mass. Differential diagnosis includes metastatic lymph nodes, carotid artery aneurysm, salivary gland tumour, branchial cleft cyst, and neurogenic or thyroid tumours. When such a lesion is suspected, a non-invasive Doppler colour flow ultrasonography enables the clinician to arrive at a definite diagnosis. Subsequent arteriography is mandatory, because the finding of an intensely blushing hypervascular mass spreading into the carotid bifurcation further supports the diagnosis and provides accurate preoperative information concerning arterial blood supply. Computed tomography scanning is appropriate to delineate the relation of the tumour to adherent structures, while magnetic resonance tomography demonstrates the relation of the tumour to the adjacent internal jugular vein and the carotid artery. Selective embolization should be performed for safe surgical removal with less bleeding. Early surgery is the treatment of choice and is recommended in order to minimize major risks. Subadventitial resection is the most established technique. Radical resection prevents local recurrence and has the best long-term results. Removal of the internal or common carotid arteries can become mandatory in selected cases of extensive disease. Surgical treatment by an experienced team is associated with considerably low mortality and morbidity.     

Osteolipoma of the palate: report of a case and review of the literature

Oral lipomas, though rare, predominantly affect the buccal mucosa, tongue, and lips. The occurrence of lipomas in the palate is extremely rare. Osteolipoma is a very rare histological variant of lipoma accounting for less than 1% of all cases. Although a few cases involving the soft palate have been reported, there is only one reported case of osteolipoma of the hard palate in the English-language literature and it was a congenital osteolipoma associated with a cleft palate in a 6-year-old male child. This paper aims to describe an additional case uniquely located in the hard palate of an adult female.     

Congenital lobar emphysema.

Congenital lobar emphysema is a rare disorder thay may present outside the newborn period. It is generally best treated surgically by excision of the affected lobe. We describe a 6 1/2-week-old infant in whom the initial auscultatory and roentgenographic findings were confusing and of no help in making the diagnosis. The etiology of congenital lobar emphysema remains unclear.     

子宫内膜间质肿瘤临床病理分析

目的 探讨子宫内膜问质肿瘤的临床、病理及其多成分分化特点、鉴别诊断和预后。方法 分析37例子宫内膜间质肿瘤(其中子宫内膜间质结节6例，低度恶性子宫内膜间质肉瘤22例，高度恶性子宫内膜间质肉瘤7例，子宫内膜间质平滑肌混合瘤2例)的临床、病理、合并症、鉴别诊断及预后。结果 不同类型肿瘤均有部分病例伴多成分分化(16例伴平滑肌分化，14例伴性索样分化，1例伴纤维分化)，其中8例同时伴2种分化成分；37例中有9例伴发子宫平滑肌瘤(其中1例同时伴发腺瘤样瘤，1例伴发高分化子宫内膜腺癌)。结论 不同类型子宫内膜间质肿瘤均可伴发多成分分化及其他类型肿瘤，具备多样性病理形态特征，其中以平滑肌分化及性索样分化最为常见；并发肿瘤以平滑肌瘤最为常见。组织化学及免疫组化染色对诊断及鉴别诊断有帮助；肿瘤预后与多成分分化的数量及类型关系不大；肿瘤有无浸润及瘤细胞异型程度、核分裂象数量是确定本瘤性质的必备条件。     

Aggressive fibromatosis of the right colon mimicking a gastrointestinal stromal tumour: a case report

Aggressive fibromatosis is a rare type of intra-abdominal desmoid tumour that usually involves the small bowel mesentery. It is a locally-invasive lesion, with a high rate of recurrence, but without metastatic potential. Aggressive fibromatosis is seen more often in young female patients. This case report presents the radiological, intraoperative and histopathological findings from a 37-year-old female patient that presented with epigastric pain and a palpable mass in the right hemiabdomen. Histological and immunohistochemical examinations of the resected tumour, including positive staining for beta-catenin, confirmed a postoperative diagnosis of desmoid type fibromatosis. This specific case showed that desmoid type fibromatosis of the colon can mimic gastrointestinal stromal tumours (GIST) based on its clinical presentation, computed tomography and magnetic resonance imaging findings. Differential diagnosis between desmoid type fibromatosis and GIST is clinically very important due to the different treatments and follow-up protocols that are implemented for these lesions.     

Haemangiomas in the urinary bladder: Two case reports

BACKGROUNDUrinary bladder haemangioma is a benign nonurothelial tumour that rarely occurs in paediatric and adolescent patients. Clinical and radiological examinations are not adequate for an accurate diagnosis. The purpose of this serial case report is to raise awareness of urinary bladder haemangioma and appropriate management.CASE SUMMARYWe described two rare cases of urinary bladder haemangioma that were confirmed by histopathology followed by immunohistochemistry and reviewed the literature on the diagnosis and treatment of patients with this disease. The radical cystectomy was performed with open method surgery associated with an abdominal wall ostomy of the ileal outlet tract for case 1. Case 2 underwent a laparoscopic partial cystectomy. Postoperative pathology confirmed the diagnosis of urinary bladder haemangioma. Haematuria resolved postoperatively, and there was no evidence of tumour recurrence in 3 years follow-up for case 1. Postoperative urinary and pelvic ultrasonography showed no signs of recurrence in 3 mo follow-up for case 2.CONCLUSIONCareful histopathological and immunohistochemical studies are required to establish the correct diagnosis. There is no “gold standard” treatment for urinary bladder haemangioma, and treatment options are varied for individuals with favourable follow-ups.     

Ultrasound diagnosis of malignant diseases in pediatrics

Grey scale abdominal ultrasound was used in a total of 146 children for primary diagnostic evaluation of abdominal masses and for follow-up of patients with malignant diseases. Of 93 patients examined for a suspected abdominal mass, 6 showed to have an intraabdominal tumour. In each case the site of tumour origin could be ascertained by ultrasound. The remaining 87 patients showed no pathological findings and have been tumour-free at routine follow-up studies. Sonography proved to be also useful in the follow-up of patients with malignant diseases. Local recurrence or metastases could be ruled out on the basis of sonographic findings alone in 32 out of 35 surgically treated patients, in 3 children with non-resectable tumours, changes in tumour size during radio- and chemotherapy could be studied. Diagnostic ultrasound was also of great importance in the assessment of complications after surgery, radio- and chemotherapy. So the early detection of hydronephrosis in 2 patients with treated nephroblastoma prevented a damage of the remaining kidney. Due to the high accuracy of sonography, invasive diagnostic methods could be restricted to a small number of patients in whom ultrasound failed to provide adequate information.     

鞍区畸胎瘤的诊断和治疗体会

目的：总结鞍区畸胎瘤的临床特点．探讨其诊断方法和外科治疗效果。方法：收集4例鞍区畸胎瘤的临床资料,其中成熟畸胎瘤3例,恶性畸胎瘤1例,4例患者皆行开颅手术,皆为近全切。全部诊断得到病理学证实。结果：4例患者无一例手术死亡,严重手术并发症和复发。结论：鞍区畸胎瘤术前不易诊断,肿瘤多与周围粘连是手术不能全切的主要原因：保护下丘脑、视力是外科治疗的关键;熟悉鞍区畸胎瘤的影像学特点,全面的组织病理学检查、血清及脑脊液肿瘤标志物检测是诊断和治疗的重要依据。     

Giant schwannoma of the cauda equina without neurological deficits – case report and review of the literature

Schwannomas and ependymomas are the most frequent tumours of the filum terminale. Giant schwannomas, however, are very rare in this location with less than 30 cases reported in the literature, most of them presenting with preoperative neurological deficits. We present the case of a giant schwannoma in a 75-year-old lady extending from the level of lower D12 to upper L3 vertebra with low-back pain as the only symptom. Microsurgical removal of the tumour was accomplished via an L1-L2 laminotomy without permanent neurological deficits. Giant schwannoma of the cauda equina is a rare tumour with variable symptoms. Early diagnosis is crucial to obtain good postoperative results. Total removal without additional neurological deficits can be achieved by appropriate microsurgical techniques.     

Sonographic appearance of a congenital parotid gland hemangiolymphangioma simulating malignancy in an infant

Congenital hemangiolymphangioma, also called mixed angioma, is a benign tumor that very rarely occurs in the parotid gland. We present a rare case of hemangiolymphangioma of the parotid gland in a 4-month-old boy whose clinical and radiologic presentation simulated malignancy. Gray-scale and color Doppler sonography revealed an enlarged left parotid gland and inhomogeneous hypoechoic and hyperechoic areas scattered throughout the gland. Mild internal vascularity was noted on color Doppler sonographic examination. CT revealed a predominantly fatty mass involving the superficial lobe of the parotid gland. The results of fine-needle aspiration cytology were inconclusive, and total parotidectomy was performed. Histopathologic examination of surgical specimens confirmed a diagnosis of hemangio lymphangioma. The patient recovered well and was free of recurrence at the 6-month follow-up visit. To our knowledge, this case report is the first to describe the findings of congenital hemangiolymphangioma of the parotid gland on sonography and CT. This rare diagnosis should be considered in neonates and infants presenting with a rapidly growing parotid gland tumor suggesting malignancy. Histopathologic examination is necessary to confirm the diagnosis.     

First branchial cleft sinus with duplicate external auditory canal: A case report

First branchial cleft cysts are rare congenital abnormalities of the lateral neck. These anomalies can be a source of recurrent infection and require surgical excision as definitive treatment. This case report details the diagnosis and treatment of a first branchial cleft sinus with an associated duplicate external auditory canal.     

Operative treatment (subtotal resection) of cavernous hemangioma of forearm. A case report

We present a case of cavernous hemangioma of a rare location within forearm muscles. The diagnosis was established on the basis of Magnetic Resonance Imaging and histological study of the specimen taken intraoperatively. A subtotal excision of the tumour was performed, followed by muscle reconstruction so that the hand function was preserved. After a follow-up period of five years, there were no clinical or MRI signs of recurrence.     

超声对卵巢良、恶性畸胎瘤的诊断价值

目的 探讨超声对卵巢良、恶性畸胎瘤的诊断价值。方法 应用二维和彩色多协超声观察84例卵巢良、恶性畸胎瘤的声像图特征。结果 84例均经手术和病理证实,78例为畸胎瘤患者,超声诊断符合率为92．9％。其中单侧的69例（2例为一侧2枚瘤体）,双侧的9例,共查出89枚瘤体。声像图表现为三种类型：混合性（65枚）、假实性（14枚）和囊性（10枚）,以混合性表现为主（占70％）,并伴有多种形态征象。恶性畸胎瘤（3例,4枚）声像图表现更为复杂,但具有良性囊性畸胎瘤的特征。结论 超声是卵巢畸胎瘤的首选检查方法,其中良性囊性畸胎瘤声像图表现具有特征性。如肿瘤内部回声更加杂乱,应密切结合临床,预示恶性可能。