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1.
R Drut 《Pediatric pathology》1990,10(4):633-639
Collections of large cells and smaller satellite-like cells arranged in an autonomic ganglion-like pattern and resembling the white matter lesions of tuberous sclerosis were found in the thymus, lungs, liver, appendix, and heart of an 8-month-old infant who exhibited other pathologic findings of tuberous sclerosis (rhabdomyomas of the heart and multiple kidney cysts). Focal cytoplasmic staining for S-100 and GFAP was noted in some large cells, suggesting neural (probably schwannian) differentiation. Dysplastic neurogenic foci appearing in internal organs may represent another morphologic marker of tuberous sclerosis. The simultaneous presence of Langerhans cell histiocytosis produced an unusual combination not previously reported. 相似文献
2.
Akalin F Baysoy G Oztürk B Yalçin Y Ekici G Yilmaz Y 《The Turkish journal of pediatrics》2004,46(1):79-81
Cardiac rhabdomyoma (CR) is the most common primary cardiac tumor in childhood. Although CRs are asymptomatic in many cases, they may cause arrhythmia, heart failure and fetal hydrops. Babies with arrhythmia in the neonatal period must be investigated for structural heart disease including CR. Cardiac rhabdomyoma may either present as an isolated tumor or may be related with tuberous sclerosis. Arrhythmia due to CR may be the initial sign of tuberous sclerosis. We report a case of tuberous sclerosis presenting with ventricular premature beats and second-degree atrioventricular block in the first day of life who was found to have multiple CR during echocardiographic examination. 相似文献
3.
Jiang ZY Pircova A Sekarski N Hack I Laurini R Janzer R Payot M 《Pediatric cardiology》2000,21(2):165-169
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. 相似文献
4.
Tuberous sclerosis is an autosomal dominant disease with potential for involvement of the skin, brain, lungs, kidneys, and
heart. A case of prolonged sinus node pause and episodes of unresponsiveness in a 21-week-old infant with tuberous sclerosis
is described. The infant subsequently underwent placement of an epicardial pacemaker. This case illustrates the importance
of electrocardiographic studies in infants with tuberous sclerosis and seizure-like episodes. 相似文献
5.
Tuberous sclerosis is a complex autosomal-dominant neurocutaneous syndrome characterized by hamartomatous malformations of
fibrous and connective tissues in various organs. Although various histologic types of soft-tissue masses can occur with tuberous
sclerosis, we present a unique case of fibrous hamartoma of infancy presenting as large infiltrating cutaneous and subcutaneous
masses in the abdominal wall in a 4-year-old boy with tuberous sclerosis. Although the co-occurrence of tuberous sclerosis
and fibrous hamartoma of infancy is very rare, it should be considered in the differential diagnosis of subcutaneous soft-tissue
masses found in children with tuberous sclerosis. 相似文献
6.
S. Jóźwiak W. Kawalec J. Dŀużewska J. Daszkowska M. Mirkowicz-Malek R. Michalowicz 《European journal of pediatrics》1994,153(3):155-157
Cardiac tumours have been frequently reported in patients with tuberous sclerosis but their incidence at different ages has been evaluated in only a few studies. We performed echocardiography in 47 children with tuberous sclerosis and found tumours in 22 (47%). In none, except one newborn, did we observe any clinical symptoms of heart failure. Tumours were more frequent in children below 2 years of age (91%) than in older children. As other signs of tuberous sclerosis are often absent in infants, echocardiography may be regarded as the most useful diagnostic test at this age. Follow up studies were done in 12 children and tumour regression occurred in 6 patients. 相似文献
7.
Mitsuru Ikeno Akihisa Okumura Shinpei Abe Ayuko Igarashi Ken Hisata Hiromichi Shoji Toshiaki Shimizu 《Pediatrics international》2016,58(1):58-61
Although seizures during infancy in patients with tuberous sclerosis complex are common, seizures in neonates are infrequent. Here, we report the clinical course and electroencephalography (EEG) findings of a neonate with tuberous sclerosis complex associated with clinically silent seizures. The patient was a girl in whom cardiac tumors were detected on fetal ultrasonography. Brain magnetic resonance imaging during the neonatal period showed subependymal and cortical tubers. Routine EEG indicated unexpected ictal changes with no noticeable clinical symptoms. Ictal EEG was associated with a subtle increase in heart rate and a brief increase in chin electromyogram. These changes were difficult to identify clinically. The patient later developed focal seizures and epileptic spasms and had severe psychomotor delay. The present case suggests the occurrence of clinically silent seizures before the appearance of epileptic spasms in infants with tuberous sclerosis, and that EEG is an option for neonates with a prenatal diagnosis. 相似文献
8.
Tuberous sclerosis complex: a review of neurological aspects. 总被引:10,自引:0,他引:10
Paolo Curatolo Magda Verdecchia Roberta Bombardieri 《European journal of paediatric neurology》2002,6(1):15-23
Tuberous sclerosis complex is characterized by hamartomatous lesions involving skin, brain, kidneys, eyes and heart. Pathologically, tuberous sclerosis is a disorder of cell migration, proliferation and differentiation. Cell lineage and cell migration disorders in the developing cortex of tuberous sclerosis complex patients might produce very different neurological phenotypes including epilepsy, cognitive impairment and autism. Cortical tubers constitute the hallmark of the disease and are pathognomonic of cerebral tuberous sclerosis. Epilepsy is the most common neurological feature, occurring in 96% of patients. Seizures often begin in the first months of life and are frequently severe and intractable. The treatment of seizures has recently benefited from the advent of the new anti-epileptic drugs. Selected drug-resistant patients with tuberous sclerosis complex could be considered for surgical treatment. Clear localization of the most active epileptogenic focus and the zone of the cortical abnormality may lead to tuberectomy and improved seizure control in selective drug-resistant patients. The finding of multiple areas of cerebral involvement should not automatically preclude epilepsy surgery in a child with intractable seizures and a well defined seizure origin. 相似文献
9.
ERIC HARINCK Ré J. M. G. MOULAERT JOHN ROHMER A. GERARD BROM 《Acta paediatrica (Oslo, Norway : 1992)》1974,63(2):283-286
Abstract. Harinck, E., Moulaert, A. J. M. G., Rohmer, J. and Brom, A. G. (Departments of Paediatric Cardiology and Thoracic Surgery, University Hospital, Leiden, The Netherlands). Cardiac rhahdomyoma in infancy. Acta Paediat Scand, 63:283, 1974.–The clinical picture of three cases of cardiac rhahdomyoma is presented. Surgical removal was attempted in two cases. One of them is still alive 9 years after the operation hut has a severe mental retardation due to the associated tuberous sclerosis. Particular attention is given to the frequent association of cardiac rhabdomyoma and tuberous sclerosis. With the progress of cardiac surgery rhabdomyomas of the heart often can be removed successfully but a surgical intervention is justified only in the absence of tuberous sclerosis or brain damage. 相似文献
10.
Objective
To study the prevalence rate of tuberous sclerosis complex in autistic disorder.Methods
We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period (2005–2009), we collected a database of 429 children (390 boys and 39 girls; male to female ratio 10:1) with autistic disorder and pervasive developmental disorders. We routinely examined all children with autistic disorder for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots. In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up.Findings
Of these, five had tuberous sclerosis complex. Thus, the prevalence rate of tuberous sclerosis complex in autistic disorder is 1.17%. All of these children were mentally retarded with moderate to severe grades. Their IQ or developmental quotient was less than 70.Conclusion
The prevalence rate of tuberous sclerosis complex in autistic disorder was 1.17% in our region; autism spectrum disorder is a condition that might be associated with development of tuberous sclerosis complex. 相似文献11.
12.
Malignant pigmented clear cell epithelioid cell tumor of the kidney is a rare variant of perivascular epithelioid cells tumors
(PEComa) or epithelioid angiomyolipoma (AML). PEComa is characteristically composed purely of epitheloid cells. The fat cells
and the blood vessels that are typical of classic AML are absent. Most epithelioid AML cases are benign; however, malignant
epithelioid AML of the kidney has been occasionally reported in adults in association with tuberous sclerosis. We report the
radiological-pathological features of a malignant pigmented clear cell epithelioid renal tumor in a 15-year-old boy presenting
with extensive metastases but without clinical evidence of tuberous sclerosis. 相似文献
13.
M. Demkow K. Sorensen B. F. Whitehead P. G. Rees I. D. Sullivan M. J. Elliott M. R. de Leval 《Pediatric cardiology》1995,16(4):204-206
Rhabdomyoma is the most common primary cardiac tumor in infants and children and is often associated with tuberous sclerosis. Surgical resection may be indicated and, if so, is usually curative. We describe a rhabdomyoma in an infant who presented with severe myocardial ischemia necessitating orthotopic heart transplantation. 相似文献
14.
A Gillor G Stock D Schuster E Crespo S Schickendantz U Mennicken 《Monatsschrift für Kinderheilkunde》1986,134(7):445-449
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. 相似文献
15.
A. M. Schwartz 《Pediatric radiology》1980,9(4):239-240
A patient with tuberous sclerosis and a normal intravenous urogram 5 years previously presented with a large and palpable upper pole renal mass. Since patients with tuberous sclerosis have small bilateral hamartomas, a Wilms' tumor was suspected. In retrospect, inhomogeneous nephrograms should have alerted the radiologist to the multiplicity of other small lesions. Also, a partially lucent rim should have substantiated that the lesion was not a Wilm's tumor. 相似文献
16.
Guereta Luis García Burgueros Margarita Elorza María Dolores Alix Alfredo García Benito Fernando Gamallo Carlos 《Pediatric cardiology》1986,7(3):171-174
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. 相似文献
17.
E Sadoun F Adotti M C Dupard B Heller J P Fournet 《Archives fran?aises de pédiatrie》1988,45(5):349-351
A large cardiac rhabdomyoma was discovered before delivery in a neonate, whose outcome was fatal. The baby and her mother had both cutaneous lesions suggestive of tuberous sclerosis, and the mother's sister had died from Von Hippel Lindau disease. The association of a cardiac rhabdomyoma and a tuberous sclerosis in the same patient is not uncommon, but the existence of Von Hippel Lindau disease in a member of the same family seems to be exceptional. 相似文献
18.
Multiple cardiac rhabdomyomas are frequently associated with tuberous sclerosis (TSC). However, splenic involvement in TSC is very rare. Histiocytoid cells in the spleen have been previously reported in only seven neonates and one fetus. We report an unusual case of multiple cardiac rhabdomyomas in a stillborn fetus with TSC who had clusters of histiocytoid cells in the spleen. These large cells had abundant eosinophilic cytoplasm and were positive with CD 68; ultrastructurally, they contained many membrane-bound bodies. It has been suggested that these cells are histiocytes. To the best of our knowledge, the present case is the second stillborn fetus who had splenic involvement with TSC. 相似文献
19.
MONICA HAGLUND ULF BERGVALL KLAS THEORELL STAFFAN TROELL 《Acta paediatrica (Oslo, Norway : 1992)》1981,70(5):751-753
ABSTRACT. Haglund, M., Bergvall, U., Theorell, K. and Troell, S. (Departments of Paediatrics and Diagnostic Radiology, Huddinge Hospital, Huddinge, Sweden). Infantile spasm and tuberous sclerosis. Acta Paediatr Scand, 70:751,.–During the years 1976–78, infantile spasm was diagnosed in a total of 12 children. In 4 of these patients the diagnosis tuberous sclerosis was established with the aid of computed tomography (CT). The advantages of CT examination in children with infantile spasm is discussed, especially the possibility to detect tuberous sclerosis at an early stage. 相似文献
20.
Yoshihiro Hayashi M.D. Kazue Yoshimura M.D. Youichiro Nakae M.D. Takahiro Nara M.D. Rousei Hamada M.D. Kihei Maekawa M.D. 《Pediatrics international》1990,32(5):571-574
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. 相似文献