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PubMed1977

[Tuberous sclerosis in a premature infant (author's transl)].

A sporadic case of tuberous sclerosis in a stillborn infant is reported. The death at the 31st week of gestation was presumably due to the development of enormous rhabdomyomas of the heart. The typical cerebral lesions were fully developed as in patients decreased later in life. The atypical cells found in the cortical tubers demonstrated ultractructural features of reactive astrocytes. Moreover, they showed innumerable microvillilike projections on their surface and junctional complexes, mostly of the zonula adharens type, reminescent of ependymocytes. The significance of such glio-epithelial cellular features is discussed.

Cerebral Cortex↗
PubMed1981

Distribution of the neuronal specific protein, 14-3-2, in central nervous system lesions of tuberous sclerosis.

The distribution of a neuronal specific enolase (14-3-2) in the central nervous system (CNS) lesions of tuberous sclerosis (TS) was examined using antiserum to 14-3-2 and the peroxidase antiperoxidase (PAP) method of Sternberger. In cortical tubers all the giant cells had intense cytoplasmic staining. Only occasional cells in the subependymal nodules were stained. All cells in the subependymal giant cell tumors were intensely stained. This indicates that the cortical giant cells and the giant cell subependymal tumors are of neuronal rather than astrocytic origin.

Brain↗
PubMed1985

Intraventricular tumors in tuberous sclerosis.

Eleven of our own cases of tuberous sclerosis with intraventricular tumor and 34 cases from the literature are reviewed. Initial symptoms and identification of tuberous sclerosis and tumor are reviewed. Results of surgical treatment, including direct radical excision and shunting are given. On gross examination, the tumor was most often loosely connected to ependyma near the foramen of Monro, causing hydrocephalus. Giant cell subependymal astrocytoma was frequently found on microscopic examination. The glial origin of the tumor is discussed and direct surgical approach of the tumor is proposed as the best treatment of these lesions.

Adolescent↗
PubMed1989

Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow?

A case of a 10 year-old-boy with subependymal giant-cell astrocytoma associated with tuberous sclerosis is reported. Sequential CT scan showed the growth of subependymal nodules to intraventricular neoplasm, which consequently obstructed the CSF pathway. The surgical indications for this lesion and the role of CT in following up subependymal nodules of tuberous sclerosis are discussed.

Astrocytoma↗
PubMed1996

Neonatal diagnosis of tuberous sclerosis.

Intracranial tumors are rare in the neonatal period, and generally the most common histological types are astrocytoma, medulloblastoma, choroid plexus papilloma and neuroectodermal tumors. The early diagnosis of these tumors is often very difficult. The authors report a case of a full-term newborn who presented with opisthotonus. A subependymal mass was detected by cerebral ultrasonography, and when the child was 1 month of age depigmentations appeared on the trunk and on the right leg, confirming the suspicion of tuberous sclerosis. At 3 months of age the child suffered infantile spasm with hypsarrhythmia. The developmental delay, the marked progressive neurological deterioration and the daily seizures suggested surgical resection. Histologic studies showed a subependymal giant cell astrocytoma such as typically occurs in tuberous sclerosis.

Brain↗
PubMed1994

Renal involvement in tuberous sclerosis complex: a retrospective survey.

In a retrospective survey performed in Germany and Switzerland, 207 patients (ranging in age from newborn to 70 years) were evaluated in order to establish the frequency, prognosis and diagnostic awareness of kidney involvement in the tuberous sclerosis complex. Renal manifestations were observed in 48% of patients: renal cysts (33 patients), renal angiomyolipoma (AML) (30 patients), a combination of both (8 patients), renal cell carcinoma (3 patients), life-threatening events such as haemorrhage (4 patients), hypertensive crisis (2 patients) and chronic renal failure (10 patients) were also documented. The diagnostic imaging techniques of ultrasonography, intravenous urography, computed tomography and magnetic resonance imaging (MRI) are important but do not always yield definitive information. Differentiation between AML and cysts can be achieved using special MRI techniques (RARE). The potential for renal involvement should be monitored in all patients with the tuberous sclerosis complex.

Adolescent↗
PubMed1980

The value of CT in genetic counseling in tuberous sclerosis.

The families of two patients with known tuberous sclerosis were electively evaluated by computed tomography. The CT positive (and negative) examination proved to be valuable for the genetic counseling of family members without overt clinical manifestations of tuberous sclerosis. Two patients had evidence of smaller enhancing lesions (minimal demonstrable mass without hydrocephalus) following intravenous contrast enhancement. We, therefore, suggest the use of contrast enhanced scans in addition to the plain scans to identify what may represent occult neoplasms. Abdominal CT scans can prove useful in identifying the frequently associated renal hamartomas.

Adolescent↗
PubMed1993

A prevalence study of autism in tuberous sclerosis.

An estimate of the prevalence of autism in tuberous sclerosis (TSC) was made by interviewing the parents of 21 children between ages 3 and 11 ascertained during a previous population study of the condition in the West of Scotland. Five of the children (24%) were rated autistic and a further four (19%), all of whom were girls, had socially impaired behavior categorized as pervasive developmental disorder, without fulfilling all the DSM-III-R criteria for autism. One further boy had disruptive attention-seeking behavior that had excluded him from his normal school. The estimated prevalence from this study of autism in TSC is 1 in 4 children in general, and 1 in 2 of those with mental retardation. Tuberous sclerosis could be a significant cause of autism and pervasive developmental disorders, particularly in girls.

Autistic Disorder↗
PubMed1980

Unusual renal angiomyolipoma in tuberous sclerosis.

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, inhomogenous nephrograms should have alerted the radiologist to the multiplicity of other small lesions. Also, a partially lucent rim should have sustantiated that the lesion was not a Wilms' tumor.

Child↗
PubMed1993

Unsuccessful attempt to detect genetic mutation in tuberous sclerosis utilizing the polymerase chain reaction.

Although tuberous sclerosis is supposed to be a phacomatosis inherited as an autosomal dominant trait, many cases develop without any affected parents or grandparents. In recent years, many vigorous investigations have been concentrated on finding the mutant gene, and possible candidate genes have been mapped on 9q34 and other chromosomes. In order to find a way of diagnosing asymptomatic carriers or patients, we tried to detect restriction fragment length polymorphisms (RFLPs) using the technique of polymerase chain reaction (PCR). We used a probe, MCOA12, which is located on 9q34 and has been known to show RFLPs in Caucasian tuberous sclerosis patients. However, we could not find a correlation between the phenotype and RFLP pattern in seven of eight families.

Base Sequence↗
PubMed1990

Bleomycin-induced chromosomal damage in tuberous sclerosis.

To investigate the possible involvement of mutagen-induced chromosomal instability in tuberous sclerosis the blood lymphocytes obtained from eleven patients with this disease and eleven healthy controls of comparable age and sex were exposed to bleomycin in vitro during the late S and G2 phases of the cell cycle. Neither the spontaneous aberration yields nor the bleomycin-induced chromosomal sensitivity differed between the two groups. The chromosomal distribution of 578 and 478 induced breaks in patients and controls, respectively, was similar. Thus, bleomycin-induced G2 chromosomal hypersensitivity in lymphocytes of patients with tuberous sclerosis is not an intrinsic feature of this hereditary disease.

Adolescent↗
PubMed1992

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. Therefore, 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 follow-up is required only when tumoral development is clinically suspected.

Adolescent↗
PubMed1992

CT of gyriform calcification in tuberous sclerosis.

This paper presents a patient with typical clinical and CT features of tuberous sclerosis associated with gyriform calcification of the most part of the left frontal lobe. This patient represents the third case of tuberous sclerosis in the literature presenting with gyriform calcification.

Brain Diseases↗
PubMed1993

Brainstem auditory evoked potentials in tuberous sclerosis.

Brainstem auditory evoked potentials were recorded in 4 subjects and pattern reversal evoked potentials in 1 subject, all with tuberous sclerosis. Alterations were found (absence or delay of components and prolonged interpeak intervals) which may suggest impaired nervous conduction also at brainstem level in patients with tuberous sclerosis.

Adolescent↗
PubMed2003

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.

Echocardiography↗
PubMed2001

[Secondary spontaneous pneumothorax in tuberous sclerosis].

Secondary pneumothorax occurs as a symptom of an underlying pulmonary disease. We report the case of an 18-year-old woman with tuberous sclerosis (Bourneville's disease) and recurrent pneumothoraces. Clinical outcome was favorable 6 months after bilateral videothoracoscopic pleurectomy. The complete triad of tuberous sclerosis (TS) (mental retardation, seizures, adenoma sebacium) is not always present in those who develop pulmonary involvement. When TS involves the lung it is clinically and pathologically indistinguishable from lymphangioleiomyomatosis (LAM). The very rare pulmonary involvement of TS and LAM are problems primarily of women in childbearing age. A pneumothorax can be the first symptom of TS or LAM.

Adolescent↗
PubMed2005

Magnetization transfer ratio measurements of the brain in children with tuberous sclerosis complex.

BACKGROUND: Magnetization transfer contrast and magnetization transfer ratio (MTR) in brain are mainly related to the presence of myelin. Neuropathological studies of brain lesions in tuberous sclerosis complex (TSC) have demonstrated disordered myelin sheaths. OBJECTIVE: To evaluate the MTR of the brain in children with TSC and to compare with that in controls. MATERIALS AND METHODS: Four patients (aged 0.41-8.4 years, mean 2.5 years) with TSC and four age- and sex-matched controls were evaluated with classic MR sequences and with a three-dimensional gradient-echo sequence without and with magnetization transfer pre-pulse. The MTR was calculated as: (SI(0)-SI(m))/SI(0)x100%, where SI(m) refers to signal intensity from an image acquired with a magnetization transfer pre-pulse and SI(0) the signal intensity from the image acquired without a magnetization transfer pre-pulse. RESULTS: The MTR values of cortical tubers (44.1+/-4.1), of subependymal nodules (51.6+/-4.8) and of white matter lesions (52.4+/-1.8) were significantly lower than those of cortex (58.7+/-3.53), of basal ganglia (caudate nucleus 58.2+/-2.8, putamen 59.6+/-2.5, thalamus 61.3+/-2.4) and of white matter (64.2+/-2.5) in controls (P<0.001). The MTR of normal-appearing white matter (61.2+/-3.0) in patients was lower than that of white matter in controls (P<0.01). The MTR of cortex and basal ganglia in patients was not significantly different from that in controls. CONCLUSIONS: MTR measurements not only provide semiquantitative information for TSC lesions but also reveal more extensive disease.

Brain↗
PubMed1999

Digital enlargement in tuberous sclerosis.

A 23-year-old woman with a medical history significant for tuberous sclerosis presented with symptoms of postpartum endometritis. Focal gigantism of the third digit of her right hand was incidentally noted and is reported to be a rare manifestation of tuberous sclerosis.

Adult↗