超声对胎儿心脏横纹肌瘤的诊断价值

目的提高对胎儿心脏横纹肌瘤的认识,评价超声心动图在胎儿心脏横纹肌瘤诊断中的应用价值。方法男性胎儿3例,女性胎儿2例。检查仪器HP1500、2000、5500、7500型彩色多普勒超声心动仪,探头频率2.5～8MHz。以四腔心为主要切面,多切面探查肿块形态,位置,数量及与周边关系,结合彩色多普勒进行评价。结果5例胎儿超声心动图均发现心室腔内不同部位多个等回声或强回声光团。直径1.9mm×2.3mm～11.5mm×6.3mm,回声均匀,境界清晰,侵犯室间隔及室壁,部分侵及房室瓣口及左室流出道。病理诊断心脏横纹肌瘤。结论胎儿超声心动图技术可对胎儿心脏横纹肌瘤准确定位,反复多切面扫查可提高诊断率。     

Rhabdomyosarcoma and rhabdomyoma associated with nevoid basal cell carcinoma syndrome: Local treatment strategy

This article presents the case of a child presenting with a rhabdomyosarcoma associated with a fetal rhabdomyoma in the setting of nevoid basal cell carcinoma syndrome. Oncologic strategy is discussed.     

Successful use of sirolimus for refractory atrial ectopic tachycardia in a child with cardiac rhabdomyoma

Cardiac rhabdomyomas are common in tuberous sclerosis. We report a child who developed rhabdomyoma related arrhythmia refractory to antiarrhythmic drug therapy. Reversion of the atrial ectopic tachycardia was achieved with mammalian target of rapamycin pathway (mTOR) inhibitor sirolimus. As per our knowledge, this is the first time that sirolimus has been successfully used in this setting.     

胎儿结节性硬化症伴心横纹肌瘤1例尸检及文献复习

目的 通过报道1例伴胎儿心横纹肌瘤的结节性硬化症及文献复习增加对该病的了解.方法 对胎儿尸解病例行肉眼及石蜡切片观察,并做免疫组化检测.结果 尸检发现胎儿心横纹肌瘤、双肾多发性囊肿,大脑灰白质内多发性结节.心肿瘤细胞myoglobin和actin(+),Ki-67和bcl-2(-);脑部结节S-100、vimentin、GFAP和nestin(+),Syn(-).结论 结节性硬化症为多脏器错构瘤样改变.产前行B超、超声心动图、CT、MRI等检查对确定诊断有一定价值.     

Cardiac rhabdomyoma with hydrops fetalis: Prenatal management by abdominal drainage

ObjectiveWe described a case of fetal cardiac rhabdomyoma complicated by hydrops. And we discussed our approach during pregnancy.Case ReportA 23-year-old woman primigravida was referred at 29 weeks of gestation (WG) to prenatal unit for a large hyperechogenic intracardiac mass associated with fetal hydrops. An intrauterine peritoneo-amniotic shunt was placed. Complete regression of ascites and pericardial effusions were observed after 34 WG with drain in good position.ConclusionCardiac rhabdomyoma is the most common prenatal cardiac tumor. These tumors are benign, asymptomatic and spontaneously regress after birth. However, in some cases, these tumors may cause severe obstructions on the fetal heart and need specific treatment.     

Extracardiac rhabdomyoma: a report of two cases

Two case reports of extracardiac rhabdomyoma (adult type) are presented. The rare occurrence of extracardiac rhabdomyoma and its relatively benign nature makes a histological diagnosis very necessary, though often difficult to make. In both cases reported here, a diagnosis of extracardiac rhabdomyoma was given and treatment with local excision yielded good results. The importance of a histological diagnosis and treatment by only a local excision is stressed.     

Cytology of a giant adult-type rhabdomyoma of the tongue

Adult rhabdomyoma is a rare primary benign tumour of striated muscle origin that almost exclusively presents in the head and neck region with predilection for male. We herein report a case of an adult rhabdomyoma in a 67-year-old male with cytologic features. The lesions was located in the tongue extended to the left parapharyngeal region. We discuss the cytological findings with a brief review of the literature on this entity.     

Ovarian serous cystadenoma with mural nodules of genital rhabdomyoma

We present an extremely rare case of ovarian serous cystadenoma with mural nodules of rhabdomyoma. The patient, a 48-year-old woman, was admitted to our hospital with left lower abdominal pain and vaginal bleeding. A unilocular cystic tumor, measuring 13 x 10 x 10 cm, was found in her left ovary and was removed. The tumor contained clear serous fluid, approximately 600 mL, and 2 mural nodules, up to 7.5 x 5.5 x 4.5 cm. The internal cystic wall was thin for the most part and lined with ciliated cuboidal epithelium without any malignant feature. The mural part was composed of mainly more mature muscle fibers with easily discernible cross-striations, set in abundant myxoid to fibromyxoid stroma, similar to clinical and microscopic manifestations of genital rhabdomyomas reported in other sites. Because extracardiac rhabdomyoma has never been described occurring in the ovary, especially arising in serous cystadenoma, to our knowledge, this is the first case reported in the English literature.     

Cardiac Rhabdomyoma: A Surrogate Diagnosis of Tuberous Sclerosis Complex in a Newborn Baby: Case Report from Tikur Anbessa University Hospital

BackgroundNeonatal tuberous sclerosis complex is an autosomal dominant inherited disease characterized by high rate of neurological, cardiac and skin manifestationsCase PresentationWe reported a 4 days old female neonate with respiratory distress, tachypnea, tachycardia and hypomelanotic macular lesions. Her chest X-ray and echocardiographic studies revealed cardiomegaly and multiple echogenic masses in the left and right ventricles, suggestive of cardiac rhabdomyoma. Furthermore, non-contrast brain magnetic resonance imaging revealed sub-ependymal nodules and cortical tubers. Therefore, a clinical diagnosis of neonatal tuberous sclerosis complex with heart failure was made. Then, the patient was initiated on diuretic treatment with oxygen by nasal catheter with subsequent improvement. Seizure was not occurred yet in the last three and half years of follow-up. Currently, the patient is thriving well with no symptomsConclusionDetection of prenatal or early neonatal age, cardiac rhabdomyoma is a useful clue to the diagnosis of tuberous sclerosis complex in neonates. Proper clinical evaluation of patients at the time of first contact prevents missing of findings such as skin macules and chest X-ray findings, which helped us to diagnose tuberous sclerosis complex in the present case     

Neonatal rhabdomyoma causing right ventricular inflow obstruction with duct-dependent pulmonary blood flow: successful stenting of PDA.

We describe an infant with the antenatal diagnosis of a large intracardiac rhabdomyoma causing tricuspid inflow obstruction. Postnatal cyanosis and arterial hypoxemia prompted commencement of intravenous prostaglandin E1 with immediate improvement in saturations. Clinical and genetic testing confirmed diagnosis of tuberous sclerosis. To secure ductal patency, two tandem coronary stents were implanted via an antegrade approach. Several episodes of long RP atrio-ventricular re-entrant tachycardia were observed. At 7(1/2) months of age, the tumor was no longer obstructive to tricuspid inflow, ductal flow was highly restrictive and there was no recurrence of supraventricular tachycardia.