Neonatal Tuberous Sclerosis with Heart and Brain Tumors

A 6-day-old neonate with tuberous sclerosis having brain and cardiac tumors is reported. The patient presented with a seizure 20 minutes after birth. Cranial ultrasonography and computed tomography on admission showed a large and round high-density tumor lesion in the left frontal lobe. Echocardiography also showed a large tumor lesion beside the left ventricle wall, and a diagnosis of tuberous sclerosis was promptly made. Two months later, a periventricular calcified lesion was found on the demonstrated portion, and the tumor lesion initially observed in the brain had disappeared. These findings suggest that the initial tumor lesion found in the brain developed into a typical calcified lesion.     

Neuroimaging in tuberous sclerosis: A clinicoradiological evaluation in pediatric patients

CT, MRI and neurological features of 27 children with tuberous sclerosis were prospectively compared. Imaging studies were positive in 92.5% of cases. CT was more useful in detecting subependymal nodules, while MRI showed the number and location of cerebral cortical and subcortical lesions more accurately. Cortical lesions in the cerebellar hemispheres were present in 26% of patients. Gadolinium-DTPA used in 10 patients showed slight enhancement of the subependymal lesions in 80% of cases, probably representing active lesions with alteration of the blood-brain barrier. None of the cortical and subcortical lesions enhanced. Giant-cell astrocytomas were detected in 5 patients, the postcontrast CT and MRI studies improving their assessment. Unlike subependymal nodules, all tumors showed marked enhancement regardless of their size. Seizures were present in 96% of patients, mostly beginning before 1 year of age. There was no clear relationship between the radiological features and the neurological evolution of these patients. There-fore, it is not possible to establish a clinical prognosis based on the radiological findings. MRI is the procedure of choice in the diagnosis of tuberous sclerosis. When pre and postcontrast MRI are negative, CT is used to exclude small calcified subependymal nodules. MRI followup is required only when tumoral development is clinically suspected.     

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     

Primary intraventricular cardiac tumors in children: Contemporary diagnostic and management options

Summary We reviewed the intraventricular cardiac tumors presenting at our institution between 1985–1991, studying the presentation, modes of investigation, and evidence of hemodynamic compromise. Thirteen patients presented with intraventricular tumors during the study period. Two of the tumors were rhabdomyosarcomas, one was a myxoma, and 10 were rhabdomyomas. All patients were evaluated with two-dimensional and pulsed Doppler echocardiography and B-color imaging was undertaken in three patients. Four patients presented for elective scans to complement investigations for tuberous sclerosis, seven patients had cardiac symptoms, and two patients presented prenatally. Obstruction to intracardiac flow was present in five patients. Two patients had the tumor excised and one had an open biopsy of the tumor. One patient had an transvascular biopsy at cardiac catheter. Early detection of cardiac tumors is increasing, particularly rhabdomyomas. With fetal echocardiography, more patients should come to attention prenatally. B-color may be a useful addition in assessing cardiac tumors, aiding detection and definition of intramural lesions.     

Diagnosis and treatment of cardiac rhabdomyomas

A diagnosis of primary cardiac tumors was achieved by two-dimensional echocardiography in 3 patients. Two of them were female neonates, born of the 29th and 40th gestational week who had shown intrauterine arrhythmias. Subsequently, we were able to diagnose tuberous sclerosis in both. The third child, a 121/2 year old boy, with already diagnosed tuberous sclerosis, presented an electrocardiographical preexcitation syndrome. Because of the multiplicity of the tumors and the association with tuberous sclerosis we presumed that the tumors were rhabdomyomas. As it is known that rhabdomyomas show no, or only a minimal postnatal growth, we decided neither to perform a heart catheterization nor to treat them surgically unless the children show hemodynamical deterioration, although the tumors were huge in both neonates. The subsequent 14 months showed a clear regression in the size of the tumors. One of the neonates was successfully treated with amiodarone because of ventricular tachycardia. The second neonate didn't require any treatment. We conclude that: Surgical management is only necessary in patients presenting with cardiac insufficiency and/or arrhythmias that are resistant to conventional medical treatment. Primary cardiac tumors should be looked for in patients presenting with arrhythmias, even when occurring already during intrauterine life. Diagnostic measures in order to diagnose tuberous sclerosis in patients with cardiac tumors are necessary and vice versa.     

Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis

Tuberous sclerosis (TS) is an autosomal dominant phakomatosis. A high percentage of spontaneous mutations leads to the diagnosis of new cases in normal families. This diagnosis is suspected at antenatal ultrasound on the discovery of multiple cardiac tumors. Antenatal cerebral ultrasound shows a normal appearance in affected fetuses. Eight fetuses with multiple cardiac tumors were studied with antenatal MRI with, in five cases, an abnormal appearance showing hyperintense subependymal and cortical nodules on TI-weighted images. Among the three remaining patients MRI was non-contributive in one due to movement artefact, one had abnormal postnatal MRI consistent with TS and one had a normal postnatal and clinical examination. We conclude that MRI is a valuable tool in making the diagnosis of TS in fetuses with multiple cardiac tumors.     

Cystic renal involvement in tuberous sclerosis

We describe two cases of unusual presentation of tuberous sclerosis with cystic renal involvement. A 19-month-old white male who was initially misdiagnosed as having polycystic kidney disease of "adult-type" developed petit mal seizures and small "ash-leaf" depigmented areas, raising a suspicion of tuberous sclerosis. Computerized tomography (CT) of the brain revealed periventricular calcifications, confirming the diagnosis of tuberous sclerosis. A 15 3/4-year-old black female with tuberous sclerosis showed acceleration of renal failure. Computerized tomography scan of the abdomen showed cystic lesions of the kidneys. In young children with cystic renal involvement but a negative family history of tuberous sclerosis or polycystic kidney disease, a CT scan of the brain should assist in the diagnosis. A CT scan or ultrasound examination of the abdomen will differentiate cystic renal lesions from angiomyolipoma of the kidneys.     

婴幼儿原发性心脏肿瘤的诊断与治疗

目的:总结婴幼儿原发性心脏肿瘤的诊断和治疗经验。方法:回顾性分析2013年8月至2019年2月大连医科大学附属大连市儿童医院心脏中心收治的7例疑似原发性心脏肿瘤婴幼儿的诊治过程,患儿均行超声心动图等检查明确诊断,根据肿瘤的大小和位置选择治疗方案。出院后行随访观察。结果:7例患儿均经超声心动图诊断为原发性心脏肿瘤,其中2...     

Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis

A mother and daughter with an initial diagnosis of tuberous sclerosis are described. The daughter presented with partial seizures at the age of 8 months. Computed tomography showed uncalcified periventricular nodules which on magnetic resonance imaging were ovoid, almost contiguous, of grey matter density, and did not enhance with gadolinium. Brain imaging of her asymptomatic mother was similar. Absence of severe mental retardation, extracranial hamartomas, and depigmented patches distinguishes familial bilateral periventricular nodular heterotopia (FNH) from tuberous sclerosis. FNH is probably inherited as an X linked dominant with lethality in males.     

Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis.

A mother and daughter with an initial diagnosis of tuberous sclerosis are described. The daughter presented with partial seizures at the age of 8 months. Computed tomography showed uncalcified periventricular nodules which on magnetic resonance imaging were ovoid, almost contiguous, of grey matter density, and did not enhance with gadolinium. Brain imaging of her asymptomatic mother was similar. Absence of severe mental retardation, extracranial hamartomas, and depigmented patches distinguishes familial bilateral periventricular nodular heterotopia (FNH) from tuberous sclerosis. FNH is probably inherited as an X linked dominant with lethality in males.     

Diagnostic value of clinical features and supplementary investigations in tuberous sclerosis in children.

The author evaluates the usefulness of clinical features and some supplementary investigations in diagnosis of tuberous sclerosis in children. 52 children ranging in age from 1 month to 14 years took part in the study. Usually depigmented naevi were the first sign of tuberous sclerosis and were seen in 98% of affected children. Epileptic seizures occurred in 96% of patients, mostly during the first year of life. Axial computed tomography of brain seems to be very helpful in diagnosis of tuberous sclerosis in every age. Multiple periventricular calcifications were found in 98% of children. Two-dimensional echocardiography was especially useful in infants and children below 2 years of age. Retinal hamartomas were found in 25% of children with tuberous sclerosis. In some cases these changes were revealed during the first year of age. Abnormal EEGs were found in 90% of recordings. The EEGs tended to improve with increasing age. In 25% of children one of parents was affected by tuberous sclerosis. The careful skin examination of both parents can be especially helpful in children with doubtful diagnosis of tuberous sclerosis.     

Localized Nodular Hypertrophy Mimicking Rhabdomyoma in the Fetal Heart: Prenatal Sonographic and Pathology Findings

Multiple intracardiac masses (ICM) are considered to be diagnostic of rhabdomyoma often associated with tuberous sclerosis. We describe a fetus with multiple ICM detected by fetal sonography at 18.7 wk gestation. The appearance and number were consistent with leading diagnosis of rhabdomyoma. Due to complications of pregnancy and extreme prematurity, the fetus did not survive. Autopsy showed the cardiac masses to be localized nodular hypertrophy (LNH) of the myocardium. No features of rhabdomyoma or tuberous sclerosis were present. In a review of the literature, similar lesions were reported in a child and two adults, perhaps as localized variants of hypertrophic cardiomyopathy. Our case does not, however, show the histopathologic features of hypertrophic cardiomyopathy. Isolated developmental abnormalities, such as in this case, can have a mass effect mimicking cardiac tumors. At the time of autopsy, the largest mass in the anterior wall of the right ventricle extended to and obstructed the right ventricular outflow tract.The abstract was presented at the Fall Meeting of the Society for Pediatric Pathology, Dallas, Texas, USA, September 27–28, 2002.     

Cardiac rhabdomyoma in familial tuberous sclerosis

Case report of a previously healthy girl who presented at the age of 9 months a paroxysmal supraventricular tachycardia. Echocardiography revealed multiple cardiac tumors. The detection of a few hardly visible unpigmented patches of skin allowed the diagnosis of tuberous sclerosis with cardiac rhabdomyomas. Computerised tomography of the brain showed typical calcifications and multiple hypodense parenchymal lesions. In the further course of the disease, progressive multifocal epilepsy and severe retardation of psychomotor development occurred, angiofibromas appeared on the face, and a suspected angiomyolipoma on renal sonography. A very mild form of this autosomal dominant phacomatosis could be detected in the patient's mother. As cardiac rhabdomyomas and tuberous sclerosis are frequently associated, investigations for both these findings with modern methods of body imaging are recommended in order to allow early diagnosis and genetic counselling.     

Partial seizures in a newborn with tuberous sclerosis

Tuberous sclerosis is characterized by the potential for hamartomatous growth in multiple organs. Common manifestations are hypomelanotic spots, facial angiofibromas, subependymal hamartomas, cortical tubers, cardiac rhabdomyomas, retinal hamartomas, and so on. Seizures and mental retardation are frequent. It is an autosomal dominant disease but there is a high percentage of spontaneous mutations. Neonatal diagnosis is exceptional. We report a case of a female term newborn who presented partial motor seizures at the third day of life. Physical examination revealed only a disturbance of cardiac rhythm. Echocardiography showed ventricular intramural rhabdomyomas. Magnetic resonance imaging disclosed periventricular subependymal nodules and cortical tubers. A retinal hamartoma was found in the right eye. At the age of 1 month, hypomelanotic spots were evident on the back skin. The patient had infantile spasms, followed by poorly controlled partial complex seizures together with severe psychomotor retardation. Examination of both parents was normal. We discuss the uncommon diagnosis of tuberous sclerosis during the neonatal period, as well as the exceptional mode of presentation of our patient, with seizures in the early neonatal period, a phenomenon rarely reported in the literature.     

Abdominal aortic aneurysm and Bourneville's tuberous sclerosis]

The authors report on a case of tuberous sclerosis diagnosed in the neonatal period on the basis of intracardiac tumor, rib anomalies and cerebral calcifications. At 4.5 months of age the infant presented acute abdominal pains which led to the discovery (ultrasound identification confirmed by CT scan) of a giant ectasia of the whole abdominal aorta. The infant died 2 days later from the rupture of this aortic aneurysm.     

Cardiac tumour in a neonate with tuberous sclerosis: echocardiographic demonstration and magnetic resonance imaging

In a neonate with tuberous sclerosis, cardiac tumours were diagnosed by two-dimensional echocardiography and evaluated by electrocardiogram-gated magnetic resonance imaging (MRI). The tumour size, shape and mobility in the ventricular cavities were more precisely determined by two-dimensional echocardiography than electrocardiogramgated MRI, while the extent of tumour mass at the apex was more clearly delineated by MRI. As two-dimensional echocardiography provides real-time imaging of cardiac anatomy without sedation, it is useful for initial evaluation of cardiac masses in neonates with genetic predisposition to tuberous sclerosis.Abbreviation MRI magnetic resonance imaging     

儿童结节性硬化症的临床诊断探讨

目的　探讨结节性硬化症儿科病人的特点。方法　应用美国全国结节性硬化症 1998年诊断标准 ,分析31例有结节性硬化症特征病例的临床表现并进行诊断。结果　 31例就诊年龄为 2个月至 12岁 ,中位数 2岁 1个月。儿科结节性硬化症患儿的临床表现主要有 :癫疒间 发作、精神运动发育落后、皮肤损害 (色素脱失斑和面部血管纤维瘤 )、侧脑室室管膜下结节、大脑皮质结节、心脏横纹肌瘤和肾脏血管肌脂瘤。通过临床表现 ,诊断结节性硬化症 2 5例 ,可能为结节性硬化症 2例 ,4例怀疑为结节性硬化症。结论　新的临床诊断标准对儿科患儿的特点比较重视 ,有较好的可操作性。小儿结节性硬化症常见具有诊断性意义的特征为 :皮肤损害 (色素脱失斑和面部血管纤维瘤 )、侧脑室室管膜下结节、大脑皮质结节、心脏横纹肌瘤和肾脏血管肌脂瘤     

Cardiac rhabdomyomas and their association with tuberous sclerosis.

A search for children presenting with signs or symptoms of cardiac rhabdomyomas was made through members of the paediatric section of the British Cardiac Society in order to establish their birth incidence, presenting features, clinical course, and the frequency of a concurrent diagnosis of tuberous sclerosis. Fifteen children were identified and 12 had tuberous sclerosis (80%). Heart failure was the presentation in six, five of whom died; six presented because of a murmur and three because of arrhythmias. The prevalence of echocardiographic evidence of cardiac rhabdomyomas in a population of patients with tuberous sclerosis was established. Twenty individuals had echocardiography and eight had echodensities consistent with cardiac rhabdomyomas. It is concluded that the minimum birth incidence for children presenting because of the effects of cardiac rhabdomyomas is 1/326,000 and a minimum of 80% have tuberous sclerosis. In a population of patients with tuberous sclerosis a minimum of 60% under 18 years have cardiac rhabdomyomas.     

Cardiac rhabdomyomas and their association with tuberous sclerosis

A search for children presenting with signs or symptoms of cardiac rhabdomyomas was made through members of the paediatric section of the British Cardiac Society in order to establish their birth incidence, presenting features, clinical course, and the frequency of a concurrent diagnosis of tuberous sclerosis. Fifteen children were identified and 12 had tuberous sclerosis (80%). Heart failure was the presentation in six, five of whom died; six presented because of a murmur and three because of arrhythmias. The prevalence of echocardiographic evidence of cardiac rhabdomyomas in a population of patients with tuberous sclerosis was established. Twenty individuals had echocardiography and eight had echodensities consistent with cardiac rhabdomyomas. It is concluded that the minimum birth incidence for children presenting because of the effects of cardiac rhabdomyomas is 1/326,000 and a minimum of 80% have tuberous sclerosis. In a population of patients with tuberous sclerosis a minimum of 60% under 18 years have cardiac rhabdomyomas.     

Transposition of the Great Arteries, Pulmonary Atresia, and Multiple Ventricular Septal Defects Associated with Multiple Cardiac Rhabdomyomas in a Case of Tuberous Sclerosis

Multiple cardiac rhabdomyomas are frequently associated with tuberous sclerosis. However, very few cardiac malformations have been described with tuberous sclerosis. We report an unusual case of tuberous sclerosis with cerebral and renal lesions associated with dextrotransposition of the great arteries, pulmonary atresia, patent ductus arteriosus, multiple ventricular septal defects, and parachute mitral valve deformity. After reviewing other cases of congenital heart diseases associated with tuberous sclerosis, emphasis is made on the potential influence of multiple rhabdomyomas developing very early during fetal life on final cardiac structures.