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Tuberous Sclerosis (TSc) is a benign multi-system hamaertomatosis and is one of the neurocutaneous syndromes (2, 3, 7). The first case of tuberous sclerosis in a 27 years old female patient is reported from Ethiopia. The importance of meticulous evaluation of a patient as a whole to reach at the right diagnosis is stressed. The clinicopathological features of tuberous sclerosis are discussed with literature review.
A seven-day-old boy with a family history of tuberous sclerosis presented with congestive heart failure. Cardiac-gated magnetic resonance (MR) imaging showed a mass in the right atrium, which was T1-isointense and T2-hyperintense relative to myocardium. Follow-up echocardiographical studies showed a decrease in the number and size of the nodules. Finally, no cardiac nodules were seen when he was two years and eleven months old. The echocardiographical studies, MR imaging findings and the clinical history are consistent with cardiac rhabdomyomas. MR imaging of the brain also showed multiple subependymal nodules, white matter abnormalities, and cortical tubers. The varied imaging appearances of tuberous sclerosis are discussed and illustrated with additional examples.
The authors present a case of a subependymal giant cell astrocytoma (SGCA) not associated with tuberous sclerosis. On admission, a six-year-old boy had obstructive hydrocephalus caused by a huge intraventricular tumor. Preoperative T1-weighted MR images with gadolinium showed heterogeneous enhancement of the lesion. The tumor was totally removed through a right transcortical approach with frontal craniotomy. Immunohistochemical staining for glial fibrillary acidic protein (GFAP) showed a positive reaction in some of the large tumor cells and the labeling index of MIB-1 was < 1.0%. Histological examinations revealed SGCA. He has no other evidence of tuberous sclerosis at present, but the patient in this case is an infant, so there is a possibility of his being diagnosed as tuberous sclerosis in the future. Therefore, systemic regular follow-up is recommended, even when his condition is asymptomatic.
Cardiac rhabdomyoma, the most common cardiac tumor of infant and child, has been known to be associated with tuberous sclerosis complex. However, tuberous sclerosis complex with fetal supraventricular tachycardia is rarely reported. Herein, we report a female neonate diagnosed as tuberous sclerosis complex with cardiac rhabdomyoma presenting as supraventricular tachycardia. The newborn infant was initially treated with vagal maneuver, adenosine push, and digoxin. Although the tachycardia converted into normal sinus rhythm, frequent recurrence of PSVT was noted. At 16 days of age, the recurrent supraventricular tachycardia was refractory to vagal maneuver and drug therapy. Direct-current synchronized cardioversion converted the arrhythmia to normal sinus rhythm and oral digoxin effectively controlled the condition of the patient without further PSVT attacks. Subsequent 9-month follow-up revealed no further attack of arrhythmia. Regression of cardiac rhabdomyoma has not been visualized on echocardiogram at 9 months old.
BACKGROUND: Cardiac rhabdomyomas associated with tuberous sclerosis induce various abnormalities in the electrocardiogram. Electrocardiographic evidence of ventricular hypertrophy may appear if the tumour is electrically active. To our knowledge, electrocardiographic evidence of ventricular hypertrophy has been reported only in association with congestive heart failure. Follow-up studies of changes in electrocardiographic findings are also lacking. METHODS: We studied 21 consecutive patients with cardiac rhabdomyoma associated with tuberous sclerosis, 10 males and 11 females, aged from the date of birth to 9 years at diagnosis. The mean period of follow-up was 53 months. None of the patients developed congestive heart failure. We evaluated the electrocardiographic changes during the follow-up, and their association with echocardiographic findings. RESULTS: Of the 21 patients, 12 showed one or more abnormalities on the electrocardiogram at presentation, with five demonstrating right or left ventricular hypertrophy. In all of these five cases, the tumours were mainly located in the respective ventricular cavity. In one patient with a giant tumour expanding exteriorly, there was marked left ventricular hypertrophy on the electrocardiogram. Followup studies showed spontaneous regression of the tumours in 12 of 19 patients, with abnormalities still present in only 7 patients. A gradual disappearance of left ventricular hypertrophy as seen on the electrocardiogram was noted in the patient with marked left ventricular hypertrophy at presentation in parallel with regression of the tumour. CONCLUSIONS: The presence of cardiac rhabdomyomas in patients with tuberous sclerosis might explain the ventricular hypertrophy seen on the electrocardiogram through its electrically active tissue without ventricular pressure overload or ventricular enlargement, although pre-excitation might affect the amplitude of the QRS complex. Even in cases with large tumours, nonetheless, the electric potential might- not alter the surface electrocardiogram if the direction of growth of the tumour is towards the ventricular cavity. In many cases, electrocardiographic abnormalities tend to disappear, concomitant with regression of the tumours.
We reported longitudinal cranial MRI studies of a neonate with tuberous sclerosis who presented convulsive seizures on the first day after birth. Cortical tubers were not detected on MRI performed at the age of 1 month, but became evident at 18 months after birth. This finding might reflect the pathological difference between the amount of myelin around the cortical tuber and other white matter lesions, which increased with age. A heterotopic islet was shown as partially stratiform appearance on MRI. This result suggests that the structure of the heterotopic islet might be heterogeneous.
A patient was reported, who was diagnosed as having tuberous sclerosis in neonatal period. He began to have complex partial seizures at 3 weeks of age. At 27 days of age, brain CT revealed a large high density lesion from the left temporal cortex to the left posterior horn, in addition to periventricular nodules. These lesions were not enhanced after injection of contrast medium. Brain MRI demonstrated more nodular lesions, the intensity pattern of which was different form those in previously reported cases. Ictal EEG showed secondary generalization from left temporal focus, which was compatible with complex partial seizures. In English literature, neonatal cases of tuberous sclerosis with large parenchymal lesions on brain CT were reported by only a few authors, and only two cases of neonatal MRI findings were documented. The neonate with tuberous sclerosis should be carefully evaluated because of the atypical appearance of MRI in rare cases.
Ten children and a 22-y old women with tuberous sclerosis were studied. All children were epileptic but only 8 had skin lesions (white spots, sebaceous adenoma), 4 had rhabdomyoma of the heart and 4 children had astrocytoma of the retina; only in 4 children was the entire triad of tuberous sclerosis seen. The young woman with a hemorrhage of an angiolipoma of the kidney had no other symptoms of tuberous sclerosis. All patients had pathologic CT and MRT findings; 4 different types of lesion were seen in MRT. In order to elucidate human genetic aspects and to demonstrate the underlying disease all children with epileptic disorders and also all patients without the full triad of symptoms should be examined by MRT.
Tuberous sclerosis - also called tuberous sclerosis complex (TSC) - is a rare, multi-system genetic disorder affecting cellular differentiation & proliferation, which results in hamartoma formation in many organs. The classic triad of clinical features comprises mental retardation, epilepsy & skin lesion, but these three features are not always present. Mrs. Jahanara Khatun, a 30 years old lady presented with maculo-papular skin lesions over the face, neck, shoulder since her six years of age, a lump in the right lumber region for four years, pain in the right lumber region associated with passage of blood clot in urine for 15 days. Her family history was very characteristic. One of her elder brother had developed same type of skin lesions. Again her 13 years old daughter had developed same type of skin lesions since seven years of age & she was mentally retarded. Clinical examination revealed normal mentation, pin head sized yellowish red translucent discrete waxy papules situated in the face, neck, shoulder. A large tender firm irregular mass in the right lumber region, which was ballotable & moved with respiration. USG revealed bilateral retroperitoneal masses with the involvement of right kidney & formation of renal artery aneurysm. The patient undergone right sided nephrectomy & histopathology of the specimen showed features suggestive of renal angiomyolipoma. The patient was diagnosed as a case of definite tuberous sclerosis complex as she had two major feature of revised diagnostic criteria - facial angiofibromas & renal angiomyolipoma.
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.
Tuberous sclerosis (TS) is an autosomal dominant disease that affects the brain, skin, eye, heart and kidney. The diagnostic criteria for tuberous sclerosis complex (TSC) have recently been revised. There are relatively few Indian studies on this disorder. Twenty-six patients diagnosed as having TS over a period of 18 years are being reported. The onset of seizures ranged from infancy to adolescence. The patterns of epilepsy encountered were generalized tonic clonic seizures (13), complex partial seizures (10), simple partial seizures (9) and myoclonic jerks (4) including infantile spasms (3). Patients often had more than one seizure type. Nineteen patients were mentally subnormal. Cutaneous manifestations were facial angiofibroma i.e. adenoma sebaceum (20), shagreen patches (7), hypopigmented macules (6), ash leaf spots (4), café-au-lait spots (2), facial hypoplasia (2) and periungual fibromas (1). One patient each had retinal phakoma and renal angiomyolipoma. CT scan revealed sub-ependymal calcifications (12), parenchymal tubers (3), cerebral edema (3) and cortical atrophy (1). One patient had enhancement of peri-ventricular sub-ependymal lesions on MRI. Anticonvulsants prescribed were phenobarbitone (20), diphenyl hydantoin (14), carbamazepine (8), sodium valproate (4), benzodiazepines (4), ACTH (2), prednisone (1), mysoline (1) and vigabatrin (1). Most patients were on combinations of anti-convulsants and response to therapy was usually not very satisfactory. However, the child treated with vigabatrin did well.
PURPOSE: To analyze the prognostic factors for mental retardation in patients with tuberous sclerosis complex (TSC). METHODS: We retrospectively reviewed 35 in-patients with TSC in a medical center and analyzed the clinical features. 19 of 32 patients (59.4%) fulfilled the classical diagnosis of tuberous sclerosis. According to the diagnostic criteria of Roach et al., 30 patients had definite TSC and 5 patients possible TSC. RESULTS: Among the 35 patients, the mean age at diagnosis was 15.9 +/- 12.5 years, and the male-to-female ratio was 14:21. 11 of 30 patients (36.6%) had a family history of TSC. The most frequent CNS manifestations were seizures (32/35, 91.4%) and mental abnormality (12/32, 62.5%). The most common cutaneous manifestation was facial angiofibroma (27/35, 77.1%) and the most common seizure pattern was generalized tonic clonic seizures (22/32, 62.9%). Poor control of seizures (p=0.006) and the presence of cortical tubercles in imaging studies (p=0.03) were correlated statistically with mental abnormality. Poor control of seizures (15/32, 46%) was more common in generalized tonic clonic seizures than other seizure types (p=0.041). Twenty-six of 28 patients (92.8%) displayed the typical findings of cortical tubers and subependymal nodules on the brain CT or MRI. CONCLUSION: Mental retardation in TSC was correlated with poor control of seizures and the presence of CNS lesions.
Tuberous sclerosis (TS) is an autosomal dominant multisystemic disease involving primarily the skin, the brain and the kidneys. Inspite of the kidney being involved in 40-80% of patients with this disease, the incidence of end stage renal disease is only about 1%. There are only 34 reported cases of successful renal transplantation in tuberous sclerosis patients with end stage renal disease. We report a case of successful renal transplantation in a patient of tuberous sclerosis with bilateral polycystic kidneys presenting with renal failure who also underwent bilateral native nephrectomies on follow up.
Two cases of tuberous sclerosis are presented. Extensive superficial occipital calcifications were found as classically described in Sturge-Weber syndrome. Other radiologic signs of tuberous sclerosis, such as subependymal calcifications in both patients and surgically proved giant cell astrocytoma in one patient, were present. At pathologic examination, the calcifications appeared to be located in extensive cortical tubers.
Reported is the rare case of intracranial aneurysm in a boy aged one year with tuberous sclerosis. Inconspicuous development in the first few months after birth was followed, in the sixth month of age, by aggravating manifestation of convulsive seizures which were clinically diagnosed as tuberous sclerosis. Rapid progression of the clinical pattern was preterminally followed by cerebral haemorrhage which was caused by circumscribed, partially purulent arteritis along with formation of a mycotic aneurysm on the anterior segments of the arterial circle of Willis. The development of this aneurysm is discussed in conjunction with the morphological and clinical findings of tuberous sclerosis.
OBJECTIVE: To assess echocardiography as an investigation for the detection of occult gene carriers in tuberous sclerosis. PATIENTS: Sixty parents of children with tuberous sclerosis who had been extensively investigated for signs of the disease and 60 age and sex matched controls. PROCEDURE: Blind study by two experienced echocardiographers and blind interpretation of video recordings by an adult cardiologist. SETTING: Cardiology department of a district general hospital. RESULTS: Two parents and three controls had bright echodense areas interpreted as possible rhabdomyomas. CONCLUSIONS: In our hands echocardiography of adults is not an investigation with a high specificity for gene detection in tuberous sclerosis.
Autopsy material from two individuals with tuberous sclerosis were examined immunohistochemically for the expression of alpha B-crystallin. Positive immunoreactions were detected in the hamartomas of various organs. Abnormal expression of alpha B-crystallin in the hamartomas in conjunction with the alpha B-crystallin gene locus on chromosome 11q22-23 overlapping with one of the candidates of tuberous sclerosis loci suggest that tuberous sclerosis may involve the altered regulation of alpha B-crystallin gene expression.
To identify the focus of paroxysmal neuronal activity causing epilepsy in tuberous sclerosis (TS), the regional cerebral blood flow (r-CBF) in 19 patients with TS was assessed using single-photon emission computed tomography (SPECT) with I-123 iodoamphetamine (IMP), in correlation with serial interictal EEGs and organic changes observed on magnetic resonance imaging (MRI). There was a general irregularity of cortical IMP uptake and retention in TS, and two-thirds of the cerebral regions exhibiting high intensity in T2-weighted MRI images (cortical tubers) showed a decrease in r-CBF. In addition to in tubers, decreased r-CBF was observed in regions in which MRI was considered to indicate destruction of the normal cortex, atrophy or vascular abnormalities, although these areas did not consistently show epileptic changes in serial EEGs. Among the cortical regions which consistently showed epileptic foci in serial EEGs, none showed abnormal r-CBF without lesions on MRI. We conclude that IMP-SPECT is useful for visualizing the epileptogenic laterality in cases with bilateral MRI lesions and EEG epileptic changes, and to differentiate epileptogenic foci from electrophysiological propagated areas. However, regarding the severity of epilepsy, the MRI findings showed a better correlation than the IMP-SPECT findings did.