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PubMed1991

[Oligosymptomatic variant of tuberous sclerosis with subependymal giant cell astrocytoma].

We report on a 9-year-old boy who developed subependymal giant-cell astrocytoma associated with tuberous sclerosis. Remarkably, the boy was not mentally retarded and never had suffered from seizures. Apart from white skin patches symptoms of increased intracranial pressure were the presenting symptoms. The boy's mother, who was present at the boy's admission, presented with skin lesions typical of tuberous sclerosis. The importance of thorough examination of apparently asymptomatic relatives of patients with tuberous sclerosis is emphasized.

Astrocytoma↗
PubMedDate not supplied

[Problems with diagnosis and treatment of brain tumors in children with tuberous sclerosis].

Problems are discussed connected with the occurrence of brain tumours in children with tuberous sclerosis with a survey of the most modern Polish and foreign literature. For illustration two cases of such tumours are reported in a group of over 50 children with tuberous sclerosis. The authors discuss also the problems related to surgical treatment in cases of brain tumours developing in tuberous sclerosis.

Brain Neoplasms↗
PubMed1990

[The clinical aspects and treatment of renal angiolipomas in patients with tuberous sclerosis].

The incidence of multiple and bilateral renal angiomyolipomas in tuberous sclerosis patients is 40-80%. These benign abundantly vascularised tumours are almost always asymptomatic. Most of the symptomatic renal angiomyolipomas measure more than 4 cm. These lesions are attended by a high risk of spontaneous rupture and massive haemorrhage. In our series of 23 tuberous sclerosis patients with renal angiomyolipomas 4 became symptomatic. Three of them were successfully treated wtih transcatheter selective embolization. Preventive embolization of renal angiomyolipomas appears indicated if these measure more than 4 cm. A fifth patient became symptomatic before the diagnosis of tuberous sclerosis was made. She had a forme fruste. She was also successfully treated by the same method.

Adolescent↗
PubMedDate not supplied

Hamartoma of the tuber cinereum: a comparison of MR and CT findings in four cases.

Hamartoma of the tuber cinereum is a well-recognized cause of central precocious puberty. We report three patients with an isodense, nonenhancing mass within the interpeduncular cistern identified by CT. In a fourth patient, the CT scan was normal. MR imaging was obtained in all cases and demonstrated a sessile or pedunculated mass of the posterior hypothalamus arising from the region of the tuber cinereum. The smallest mass was 2 mm in diameter and was found in the patient in whom the CT scan was normal. The signal intensity of the masses was generally homogeneous and isointense relative to gray matter on T1- and intermediate-weighted images, and hyper-intense on T2-weighted images. MR imaging accurately diagnoses hypothalamic hamartomas, identifies small hamartomas of the tuber cinereum more sensitively than CT does, and provides optimal imaging for serial evaluation while the patient is being treated medically.

Child↗
PubMed1989

[Tuberous sclerosis of Bourneville: contribution of the ophthalmologist in 2 cases].

Bourneville's tuberous sclerosis. Report on two cases. The tuberous sclerosis is a most rare congenital disease belonging to the phacomatoses with a non-predominant neural crest participation. The ophthalmologist's diagnostic does have a real importance because the fundus can show phacomas which are one of the most specific indications of this affection, and therefore it does help for the genetic advice. After the report of two tuberous sclerosis cases showing phacomas, we insist on the ophthalmologic signs and on the principal manifestations of this disease. The main problem to solve will be how to set up the differential diagnostic with a first appearance of a retinoblastoma. Most of the time, the evolution will be a slow increase of the phacomas' number and of their size as well. Sometimes it might be complicated by vitreous hemorrhages which may lead to a vitrectomy. The vital prognostic will be make out according to the general damages.

Adolescent↗
PubMed1989

[Total A-V block due to tuberous sclerosis. A case report].

Tuberous sclerosis is a neurologic disease affecting various organs with a triade: sebaceum adenoma, mental retardation and seizures. This report presents a case of a patient with tuberous sclerosis and third degree A-V block with complete invasive and non-invasive evaluation. The patient had sincope and complete A-V block with QRS complexes showing right bundle branch block morphology. The echocardiogram showed dilated cardiomyopathy with diffuse left ventricular dysfunction and had normal coronary arteriography. The eletrophysiologic evaluation showed complete infra-hisian A-V block and QRS with left bundle branch block pattern with normal sinus nodal and A-V nodal function. It was not possible to induce ventricular tachtyarrhythmias up to two extrastimuli. Histologic study showed normal myocardium under light and electronic microscopy. After permanent VVI pacemaker implant, the patient in follow-up for 16 years. This case seems to be the first in the international medical literature of tuberous sclerosis with complete heart block.

Adult↗
PubMed1989

[Bone changes in tuberous sclerosis (Bourneville-Pringle disease)].

The tuberous sclerosis is a rare hereditary disease which mostly becomes manifest in a triad of symptoms: epilepsy, mental defects and skin changes of the adenoma sebaceum Pringle type. There may be an atypical clinical picture without neurological or psychiatric signs, in 50% of cases also without skin changes. Bone changes in tuberous sclerosis are asymptomatic and present in up to 50% of patients. Their finding in patients without basic known symptoms may be the cause of mistaking it for osteoplastic metastases. A case like that was described in the case history part of the communication. The knowledge of the possibilities of these changes in tuberous sclerosis may considerably ease differential diagnosis by suitable indication of computer tomography of the brain with the finding of typical calcifications.

Bone and Bones↗
PubMed1989

[Bilateral angiomyolipomas of the kidney in Bourneville's tuberous sclerosis].

We report on a 25-year-old patient diagnosed as having Bourneville tuberous sclerosis with a giant angiomyolipoma 16 X 12 cm. in diameter, and two small angiomyolipomas in the left kidney, multiple asymptomatic angiomas in the right kidney and two 1 cm. diameter angiomas in the liver. The presenting features were intense left-sided abdominal pain of sudden onset, frank hematuria, acute anemic syndrome, nausea and vomiting. Patient work up included x-ray of chest, abdomen, and skull, bilateral renal arteriography and ultrasound were diagnostic of Bourneville tuberous sclerosis with multiple bilateral renal angiomyolipomas. The hematologic and hemodynamic compromise and the almost completely absent intact parenchyma in her left kidney did not permit a conservative surgical procedure and the patient was submitted to a left nephrectomy. The patient had the following characteristic features of Bourneville's disease: epilepsy, intracranial calcifications on CT, sebaceous adenomas on face, fibromas under nails of left hand and foot, bony lesions in the form osteosclerosis and chylous pleural effusion. Her intelligence level was normal and no optic nerve phakomas were observed. The literature on angiomyolipoma and Bourneville's tuberous sclerosis is reviewed. The importance of using ultrasound and CT in combination to diagnose and follow up renal angiomyolipomas is highlighted. Treatment of angiomyolipomas must be based on two parameters: symptoms and size. Symptomatic angiomyolipomas warrant angiographic work up and selective arterial embolization or the most conservative surgical procedure possible (enucleation, partial nephrectomy). Asymptomatic angiomyolipomas warrant CT and/or ultrasound examination every 6 or 12 months depending on size.

Adenoma↗
PubMed1989

[Echocardiographic study of heart rhabdomyoma in tuberous sclerosis].

In order to study the prevalence of cardiac rhabdomyoma in tuberous sclerosis using non invasive methods, 11 consecutive patients affected by tuberous sclerosis (age: 3 months-22 years, mean 6 years) were examined between January 1984 and April 1987. In each patient clinical examination, 12 lead electrocardiogram, M-mode and two-dimensional echocardiogram were performed: on 7 of them a 24-hour ambulatory electrocardiogram was also performed. Clinical examination revealed a systolic murmur (grade 3/6) in two cases. In one of them it was associated with cyanosis and cardiac failure. None of other patients showed signs or symptoms related to the heart during clinical examination. ECG was abnormal in 3 cases (ventricular pre-excitation in 2 cases and left ventricular strain in 1). Two-dimensional echocardiogram showed single or multiple intracardiac masses suggestive of cardiac rhabdomyoma in 8 cases; in 3 of them masses were isolated, intramural, and in the interventricular septum, from 5 to 16 mm in diameter; in the other 5 cases they were multiple, intramural and endoluminal, in the interventricular septum, in the right or left ventricle, from 7 to 20 mm in diameter. Ambulatory electrocardiogram revealed only isolated ectopic supraventricular and ventricular beats in 2/7 cases. Each patient was clinically controlled every six months using ECG standard and two-dimensional echocardiogram. The mean follow-up period was 32 months (range 9-53). This study confirms the usefulness of the two-dimensional echocardiography to visualize intramural or intracavitary masses due to cardiac rhabdomyoma in patients with tuberous sclerosis, especially when they appear clinically asymptomatic. Two-dimensional echocardiography is probably the ideal method to use in order to evaluate potential increase in cardiac rhabdomyoma, when prolonged follow-up studies are performed.

Adult↗
PubMed1987

[Renal oncocytoma associated with tuberous sclerosis: report of a case].

A case of a renal oncocytoma associated with tuberous sclerosis in a 31-year-old woman is reported. She displayed many characteristic skin features of tuberous sclerosis but no central nervous symptoms. Although she complained of dysmenorrhea and hypermenorrhea, she had no complaints related to the kidney. A left renal tumor was discovered incidentally during preoperative examination for gynecologic disease and left nephrectomy was performed. Histologically, the tumor was shown to be a typical renal oncocytoma. This is supposed to be the first case of renal oncocytoma associated with tuberous sclerosis in Japan.

Adenoma↗
PubMedDate not supplied

Tuberous sclerosis: a neuropathological and immunohistochemical (PAP) study.

Clinical, neuropathological, and immunohistochemical (PAP) findings are reported in a 7 month-old girl with Tuberous sclerosis (TS). Polycystic kidneys and massive cardiomegaly constituted the prominent pathological features. The neuropathology of the syndrome was characterized by Megalencephaly, Subependymal giant cell astrocytoma, Very large protoplasmic astrocytes in Golgi-rapid method preparations of cortical tubers and Glial fibrillary acidic protein (GFAP)-negative giant cells in the subependymal nodules as well as in the cortical tubers. The identity of these giant cells is discussed.

Astrocytoma↗
PubMed1986

[Tuberous sclerosis with intraventricular tumor: report of 2 cases].

It is well known that intraventricular tumors are occasionally seen in patients with tuberous sclerosis. We have experienced two cases of tuberous sclerosis with intraventricular tumor. Case 1: an 8-year-old girl was admitted to our clinic because of headache and vomiting of one month's duration. She had adenoma sebaceum, mental retardation and seizures clinically, and a large tumor was found in the right lateral ventricle by pneumoventriculography. Partial removal of the tumor was performed by the right frontal transcortical approach, but she later died of pneumonia. Necropsy revealed hamartomatous disease characterized by multiple focal tumor-like malformations in various organs including the brain, kidneys, heart, lungs and liver. The histological diagnosis of the intraventricular tumor was subependymal giant cell astrocytoma. Case 2: a 6-year-old boy was admitted to our clinic because of headache of one year's duration. He had also suffered from seizures since 6 months of age. Adenoma sebaceum was noted in the cheeks. CT revealed a medium sized tumor at the right foramen of Monro and the moderately dilated right lateral ventricle and several calcified deposits in the lateral ventricle wall. The tumor was subtotally removed by the right frontal transcortical approach. The pathological examination showed subependymal giant cell astrocytoma. Now 6 years after the operation he is enjoying a normal school life. In our cases, intraventricular tumors associated with tuberous sclerosis were of a typically benign histological appearance, that is subependymal giant cell astrocytoma.(ABSTRACT TRUNCATED AT 250 WORDS)

Astrocytoma↗
PubMed1985

Tuberous sclerosis: case report and investigation of family members.

Familial tuberous sclerosis probably occurs more often than is indicated by the literature: many family members show signs of being carriers of the gene for the disease when carefully examined. This article reports on a family with documented tuberous sclerosis in three generations and discusses the examination and investigation of at-risk family members, including the newborn, for signs of the disease. The potential teratogenic effects of anticonvulsants, used to control seizures in tuberous sclerosis, are also discussed.

Adult↗
PubMed1979

Renal hamartoma (angiomyolipoma) and the tuberous sclerosis complex.

Renal hamartoma is found in 40 to 80 percent of patients with tuberous sclerosis. Microscopic demonstration of fat in the tissues of the mass is felt to be the most reliable diagnostic criterion of hamartoma.Characteristically, the angiographic appearance demonstrates a large, dilated feeding vessel passing through the mass with multiple, multisacculated aneurysmal dilatations appearing like bunches of grapes. There is a delicate neovascularity without A-V shunting and an onion-peel or whorl-like appearance in the venous phase.This case is presented to point out the close association of renal hamartoma and tuberous sclerosis and the need to search for renal hamartoma when the diagnosis of tuberous sclerosis is made.

Adenoma↗
PubMed1979

Demyelination of the brain in tuberous sclerosis: computed tomography evidence.

Two patients with tuberous sclerosis are described in whom computed tomography of the head revealed areas of diffuse diminution of density suggestive of demyelination. Computed tomography is a sensitive test for the detection of intracerebral lesions in tuberous sclerosis, and the finding of areas of diminished density in the absence of evidence for tumor or ventricular obstruction correlates with the common histologic finding of diffuse demyelination. Serial studies with computed tomography are likely to determine whether such demyelination precedes the growth of hamartomas and calcification that characterize tuberous sclerosis.

Brain↗
PubMed1984

[Enamel defects in tuberous sclerosis: hard facts of diagnostic importance].

Tuberous sclerosis is a complex syndrome. Recognition of the disease can be very difficult because of its incomplete forms. In this article a new symptom of possibly great diagnostic value is discussed, namely the presence of enamel defects in patients with tuberous sclerosis. For a clear understanding and correct interpretation of enamel defects in general, the role of the odontogenesis, the amelogenesis and the different types of developmental disturbances is explained. A review is given of all published investigations concerning the presence of enamel defects in tuberous sclerosis. The conclusion is that the enamel defects may be of great importance for an early diagnosis as well as for a possible revise of the penetrance and mutation rate of the disease.

Amelogenesis↗
PubMed1980

[Tuberous sclerosis with chronic renal failure treated by hemodialysis and transplantation (author's transl)].

We report on a case of tuberous sclerosis in a 36-year-old female with chronic renal failure, who was treated by hemodialysis and transplantation. The diagnosis of tuberous sclerosis was ascertained by the association of typical cutaneous retinal and osseous lesions. On the contrary, the renal localisations were unusual. Early hypertension was exacerbated in the course of 2 pregnancies but was never severe. It preceded the late onset of renal failure which progressed slowly. The kidneys were small, with a peculiar angiographic aspect: the renal tissue was not invaded by hamartomas but the whole arterial bed was diffusely modified, with a cortical perfusion defect. Both kidneys were studied after bilateral nephrectomy. The lesions were far more complex than a simple replacement of the renal tissue by angiomyolipomas: they involved the vessels, the interstitium (with lipids inclusions surrounded by a macrophagic reaction) and the glomeruli (with focal and segmental sclerosis). This observation (which is the 11th case in the literature of tuberous sclerosis with chronic renal failure and the 3rd treated by transplantation) documents a particular variety of congenital and familial nephropathy with delayed revelation.

Adult↗
PubMed1980

Cystic disease of the lungs in tuberous sclerosis: clinicopathologic correlation, including body plethysmographic lung function tests.

Cystic disease of the lungs with focal nodular adenomatoid proliferation is among the least common pathologic stigmas of tuberous sclerosis. It tends to develop in adult life, occurs more commonly among female patients who do not have mental retardation and epileptic seizures, and may be rapidly fatal after the onset of respiratory symptoms. Reported here is one such case, that of a 45-year-old woman who had, in addition to the pulmonary involvement, cerebral tubers, retinal phakomas, adenoma sebaceum, subungual fibromas, renal angiomyolipomas, cardiac angiofibroma, hepatic angiomas, and thyroid adenoma. This is also the first patient in whom pulmonary function tests by body plethysmography were performed, which aids our understanding of the pathophysiology of respiratory failure in tuberous sclerosis.

Cysts↗