Cardiac rhabdomyoma presenting as fetal hydrops

Summary Fetal hydrops and possible congenital heart disease with atrioventricular block was diagnosed one day before birth in a male infant of 35 weeks' gestation. Echocardiography and angiocardiography soon after birth revealed a cardiac tumor. The child died three days after birth. Necropsy showed tuberous sclerosis involving the heart (type-I rhabdomyoma), kidneys, retina, and central nervous system.     

An unusual cause of a superior mediastinal mass in an infant

Tuberculosis has not been reported to be a cause of mediastinal masses in previous case series of mediastinal masses in children. We report the case of a 7-month-old infant with a superior mediastinal mass extending into the right chest, who was referred to the paediatric surgical team for biopsy and further management. Clinical and radiological findings were suggestive of a malignancy. However, thoracoscopic biopsy revealed the presence of a tuberculous mass.     

Cardiac rhabdomyoma and tuberous sclerosis: Prenatal diagnosis and follow-up

This article reports 4 cases with cardiac rhabdomyomas diagnosed during intrauterine life. Echocardiographic follow-up at 9–30 months showed regression of the tumors in 3 cases (75%). Two cases (50%) developed tuberous sclerosis during that period. Fetal echocardiography promotes early diagnosis of tuberous sclerosis through prenatal detection of cardiac rhabdomyoma, and facilitates genetic counselling of families at risk     

Implantable cardioverter defibrillator as a bridge to recovery in an infant with cardiac rhabdomyoma

Multiple cardiac rhabdomyomas in an infant presented with recurrent life-threatening ventricular arrhythmias refractory to medical treatment and necessitating the placement of an implantable cardioverter defibrillator (ICD). The device functioned effectively as a bridge to recovery during a 2-year follow-up period, when the tumor showed spontaneous regression, along with an almost complete resolution of the ventricular arrhythmias. We conclude that childhood cardiac rhabdomyomas causing severe drug-refractory ventricular arrhythmias can be managed by ICD therapy.     

Vertebral osteomyelitis in an infant presenting with a posterior mediastinal mass

A rare case of vertebral osteomyelitis and paravertebral abscess that presented as a posterior mediastinal tumour with airway compression in a 7-week-old baby is presented. The differential diagnosis and the recommended treatment are discussed.     

Histiocytosis X with anterior mediastinal mass as its initial manifestation

This is a report of an unusual case of histiocytosis X whose initial manifestation was a large anterior mediastinal mass. Although the initial histology of the excised tumor suggested histiocytosis X, this was not confirmed until obvious bone and skin lesions developed later.     

Left atrial mass 16 years after radiation therapy for mediastinal neuroblastoma

Summary Tumors involving the heart during childhood are rare. However, neuroblastoma, a common pediatric malignancy, has been described to involve the cardiovascular system in 3%–12% of patients dying with this tumor. Rarely is such involvement diagnosed ante mortem and never, to our knowledge, has a benign cardiac tumor been reported to present in childhood after successful eradication of neuroblastoma. We describe the identification and surgical resection of a nodular, hypertrophied, calcified, pedunculated left atrial mass in a 16-year-old boy who was complaining of exercise-associated presyncope and headaches 16 years after irradiation and chemotherapy for mediastinal neuroblastoma.     

Cardiac rhabdomyoma of a neonate: An autopsy case report

A primigravida delivered a cyanosed female infant with a very low Apgar score. Cardiac anomaly of the fetus was detected at 32 weeks of gestation by ultrasonography. The baby died on the day of delivery. Autopsy revealed multiple tumor masses in the interventricular septum and ventricular walls. The tumor originating from the interventricular septum was the largest and measured 3.7 × 3 cm. Histologically, the tumor was composed of large polygonal glycogen-laden cells and ‘spider-cells’. Eosinophilic giant histiocytic cells were also observed in the spleen. Ultrastructural features of the tumor cells correlated with those of typical cardiac muscle cells.     

Disappearance of a cardiac rhabdomyoma complicating congenital mitral regurgitation as observed by serial two-dimensional echocardiography

Summary A cardiac tumor was diagnosed by two-dimensional (2D) echocardiography in a four-month-old infant who also had congenital mitral regurgitation. At 18 months of age, histological examination of a biopsy specimen of the cardiac tumor, obtained during surgery for mitral valve replacement, revealed a rhabdomyoma. In serial postoperative 2D echocardiograms, this tumor decreased in size until total disappearance after 6 months.     

Solitary rhabdomyoma of the heart

We report a case of cardiac rhabdomyoma leading to sudden, unexpected death in an 11-monthold child.Autopsy disclosed a firm nodular tumor located in the anterior part of the interventricular septum and anterior wall of the left chamber. The tumor bulged into the cavity of the left ventricle and caused appreciable narrowing of the outflow tract. Histologically, the typical spider cells characteristic for cardiac rhabdomyoma could be found. Sections cut from alcohol-fixed tissues and stained in water-free PAS showed that these cells contained massive amounts of a diastase-digestible PAS-positive material, presumably glycogen.No evidence of tuberous sclerosis was detected. Sudden death was attributed to cardiac arrest due to irritation of the conducting system by the tumor.     

The natural history of cardiac rhabdomyoma with and without tuberous sclerosis

The aim of the present study is to contribute to the knowledge of the natural history of cardiac rhabdomyoma in children with and without tuberous sclerosis. In a retrospective study, 33 children with cardiac rhabdomyoma were collected from three pediatric cardiology centres. In 30/33 patients tuberous sclerosis was associated. High prevalence of cardiac rhabdomyoma was found in infancy, with 21/23 detected before the age of 1 year, and 11/33 before 1 month of age. Cardiac manifestations were present in 19 patients: cardiac rhythm disturbances were detected in 13; in 6/33 a Wolff-Parkinson-White syndrome was documented, of which 4 presented paroxysmal arrhythmias. Obstructive or regurgitative phenomena were present in 5; and in 2 patients surgical removal proved necessary. With the exception of one tumoural mass in the right atrium, all 77 tumours were located somewhere in the ventricles, including at atrioventricular valve level. Because of spontaneous regression of most of the tumoural masses, treatment should at first be symptomatic, while surgical removal is required only in life-threatening conditions, as documented in 2 of our 33 patients.     

Respiratory distress due to a posterior mediastinal mass following failed repair of esophageal atresia

Respiratory distress due to masses in the posterior mediastinum have been extensively described, including duplication cysts of the esophagus. Retained esophagus following failed repair of esophageal atresia (EA) and esophageal replacement was described only once. Double atresia and midportion esophageal cyst is also a rare entity. We describe a baby with respiratory distress following esophageal replacement for failed repair of EA with tracheoesophageal fistula who was cured by the removal of an overlooked mediastinal cystic mass of esophageal origin at the age of 16 months.     

Ileocolic intussusception: an unusual complication in a newborn with intestinal neuronal dysplasia

Intestinal neuronal dysplasia type B (IND B) represents a congenital malformation of the enteric nervous system causing disorders of intestinal motility, e. g., chronic constipation. We report a newborn who primarily suffered from intussusception and peritonitis. He required a subtotal colectomy for gangrene, but since IND B had not been expected at this time, no specific immunhistochemical workup for IND was initiated. Following recurrent episodes of ileus and subileus within the next years, colonic biopsies were taken and histotopochemical staining revealed IND B. The remaining colon required resection; an ileorectostomy was performed and the patient is now asymptomatic. This case report discusses the causality of IND B for intussusception and stresses that in newborn patients the clinical presentation may be misleading, and adequate histochemical evaluation is essential for early detection.     

Diagnosis of anterior mediastinal mass lesions using the Chamberlain procedure in children

The mediastinum is the most common site for primary intra-thoracic pathology in childhood. This paper describes the versatility of the Chamberlain operation in establishing tissue diagnosis and guiding definitive treatment in children with mediastinal mass lesions. During 1999-2006, 28 consecutive patients were referred to a National Oncology Center with anterior mediastinal pathology. Eleven underwent the Chamberlain procedure. Demographic data, diagnostic sensitivity, operating time and morbidity were recorded. All patients had preoperative chest X-ray and computed tomography scans. The Chamberlain operation was deployed in only those children without other ways of accurately establishing their diagnosis. Others with mediastinal pathology had a diagnosis established by lymph node biopsy, thoracentesis or other method(s). Eleven patients (nine male, two female; age range 2-13 years) underwent the Chamberlain procedure. In these children, there was no pre-existent diagnosis and this was the primary procedure employed. Diagnostic accuracy was 100%. Three patients had pleural disruption and chest tubes were placed at the time of surgery. No patient required a thoracotomy. Average operating time was 1.3 h. Five patients were diagnosed with Hodgkin's lymphoma, four had non-Hodgkin's lymphoma and two children thymic hyperplasia. The Chamberlain operation provides excellent access to the antero-superior mediastinum for biopsy of obscure mediastinal mass lesions in childhood. Complications from this procedure are very rare.     

Adrenal haemorrhage presenting as an abdominal mass in the newborn

Adrenal haemorrhage in the newborn, an entity well recognized at autopsy and as a cause of massive haemorrhage, may present as an asymptomatic abdominal mass. Three cases of neonatal adrenal haemorrhage are described and the literature is reviewed. Most of the affected babies were of normal birthweight, full term and with no history of difficult delivery or neonatal asphyxia. Most presented with a flank mass and jaundice. The haemoglobin was not always low. Intravenous urography and sonography were the investigations of choice. The most serious condition in the differential diagnosis is neuroblastoma, but the chance of this presenting in the newborn period with normal catecholamine secretion and no evident metastases is sufficiently rare to justify expectant management. Follow-up physical examination and repeat sonography at 1 month are recommended. This interval is long enough to allow resolution of a mass caused by adrenal haemorrhage.     

Pulmonary artery to the left atrium fistula as an unusual cause of cyanosis in the newborn

Summary A fistula between the pulmonary artery (PA) and the left atrium (LA) is a rare form of congenital heart disease, 34 cases having been described in the literature, all from the right pulmonary artery (RPA). Only six cases were diagnosed in the newborn period. We report such a case, diagnosed at 1 day of age by Doppler echocardiography, with an unusual site of the fistula.     

An unusual cause of cardiac failure in a neonate

We report the case of a newborn admitted with signs of congestive cardiac failure with prominent and pulsatile cervical veins. Echocardiography showed a structurally normal heart, right-to-left ductal flow, and reversed diastolic flow in the proximal descending aorta. A computed-tomography scan of the head showed a vein of Galen arteriovenous malformation. This highlights the importance of considering an intracranial cause in the differential diagnosis of neonatal congestive heart failure.     

婴儿原发性纵隔肿瘤58例临床分析

目的通过分析婴儿原发性纵隔肿瘤的发病特点、临床表现、疗效与并发症,探讨其诊治经验。方法回顾性分析2010年1月至2叭4年12月间本院经手术治疗的58例原发性纵隔肿瘤患儿临床资料,总结其临床表现、原发部位、手术及术后并发症。结果 58例中,男33例,女25例,最小年龄15天,最大年龄12个月(平均4.5个月)。原发肿瘤中,神经源性肿瘤占51.7%,生殖细胞瘤占24.1%,间叶组织肿瘤占20.7%。42例出现临床症状,其中气促26例,占46.5%,发热5例,占8.6%,咳嗽5例,占8.6%,呼吸窘迫3例,占5.2%。良性肿瘤24例(占41.4%),恶性肿瘤34例(占58.6%)。均予手术治疗,其中根治性切除手术53例,大部分切除术5例,仅1例予术后化疗。58例已随诊2个月至5年,无手术相关死亡,无一例复发,术后出现霍纳氏综合征2例,膈神经损伤1例。结论婴儿纵隔肿物的早期诊断较困难,需依赖临床症状和胸部CT检查。手术是治疗婴儿纵隔肿瘤安全有效的治疗方案。     

Pericardial cyst diagnosed by two-dimensional echocardiography and computed tomography in a newborn

Summary A one-day-old full-term female infant with massive “cardiomegaly” developed marked respiratory distress soon after birth. The two-dimensional (2D) echocardiogram demonstrated a 4×5-cm cystic mass adjacent to the left ventricular free wall. Computed tomography (CT) confirmed the presence and dimension of the cyst and CT number indicated the fluid within the cyst to be serous. A pericardial cyst was successfully removed at thoracotomy. Two-dimensional echocardiography and CT, both noninvasive procedures, are fully adequate tools in the diagnosis of pericardial cysts in the neonate, so that invasive investigations may be avoided.