eMedicine Specialties > Neurology > Pediatric Neurology
Tuberous Sclerosis: Multimedia
Updated: Feb 14, 2007
Multimedia
 | Media file 1: Enhancing subependymal nodules, including a probable giant cell astrocytoma in the region of the foramen of Monro. Subependymal nodules may increase in size over time from one scan to the next, and then stabilize. This lesion had not changed with serial imaging over 2 years. The patient remains asymptomatic and is monitored closely for any deterioration. |
 | Media file 2: Hydrocephalus from a subependymal giant cell astrocytoma in a patient with tuberous sclerosis. The patient presented with acute blindness and ataxia. |
 | Media file 3: Facial angiofibromas in a young man with tuberous sclerosis complex. |
 | Media file 4: Dysplastic periungual fibroma involving the great toe in a patient with tuberous sclerosis. |
 | Media file 5: Gingival fibromas (see arrows) in a patient with tuberous sclerosis. A stain outlines dental pits and craters. Gingival hyperplasia from other causes (eg, phenytoin use) is more diffuse and usually not nodular/focal in nature. |
 | Media file 6: Typical ash leaf macules; the reddish, nodular area at the upper lumbar area is a shagreen patch. |
 | Media file 7: Atrial rhabdomyoma as seen on cardiac CT scan in a patient with tuberous sclerosis. |
 | Media file 8: Nonobstructive ventricular rhabdomyomas in a patient with tuberous sclerosis. |
 | Media file 9: Ventricular rhabdomyomas may diffusely infiltrate the myocardium, as in this patient with tuberous sclerosis. The patient presented with cardiac failure and hydrops at birth. After a period of intensive supportive care and inotropic therapy, she now has essentially normal cardiac function and is on no medications. |
 | Media file 10: Multifocal pulmonary cysts characteristic of lymphangiomyomatosis. As many as 40% of women with tuberous sclerosis have pulmonary cysts on chest CT scan. |
 | Media file 11: Massive bilateral angiomyolipomas in a woman with tuberous sclerosis. She also has lymphangiomyomatosis. |
 | Media file 12: Pre-embolization angiography of the patient with angiomyolipomas shown in Image 11. Dysplastic arterial vessels are demonstrated. |
 | Media file 13: Vessels to the angiomyolipoma shown in Image 12 have been occluded with coils. This should produce regression of the lesion and prevention of hemorrhage. Functional intervening renal parenchyma is preserved. |
 | Media file 14: Enamel pitting in tuberous sclerosis. Pinpoint size pitting (A) and crater size pitting (B) are visible. Red dye is used to enhance recognition. |
 | Media file 15: Basilar artery aneurysm in a 2-year-old girl with tuberous sclerosis. The arrow shows the anterior aspect of the aneurysm where it abuts the clivus. The lesion was not present on MRI performed 11 months earlier. |
 | Media file 16: This frontal lobe lesion in a patient with tuberous sclerosis increased in size, then spontaneously involuted. The patient remained asymptomatic from the mass effect, and his seizures resolved as the lesion involuted. |
 | Media file 17: This father and all 3 children have tuberous sclerosis complex. The children are now grown up and of normal intelligence, including the young lady at left who is cushingoid from therapy with adrenocorticotropic hormone for infantile spasms. |
 | Media file 18: The child whose CT scan is shown presented with medically intractable epilepsy thought to be due to partial hemimegalencephaly. She became seizure free after partial hemispherectomy. Pathology was consistent with a cortical tuber. She was subsequently found to have multiple ash leaf macules and diagnosed with tuberous sclerosis. |
 | Media file 19: Multiple tubers in a child with tuberous sclerosis, normal intelligence, and well-controlled seizures. High tuber count does not invariably mean poor neurological outcome. |
 | Media file 20: All tubers are not equal. This child has a smaller number of tubers than the patient shown in Image 19, but the tubers are larger in size. She too has normal intelligence and is seizure free on medication. |
 | Media file 21: Mammalian target of rapamycin (mTOR) activates the protein S6 kinase, which enhances cell growth and protein synthesis. It, in turn, is regulated by multiple factors, including insulin, amino acids, the drugs rapamycin and its congeners (eg, RAD001), and the TSC gene products via the GTPase-activating protein Rheb. |
 | Media file 22: Subependymal giant cell astrocytoma prior to stereotactic insertion of balloon catheter as seen on T2-weighted MRI. |
 | Media file 23: Modified angioplasty catheter used in creation of surgical tract for astrocytoma resection. |
 | Media file 24: Catheter placed in proximity to lesion, balloon inflated. |
 | Media file 25: Postoperative T2-weighted MRI in the same patient as in Image 22 showing gross total resection of giant cell astrocytoma with minimal disruption of overlying cortex. |
 | Media file 26: Mean reduction in simple and complex partial seizures in patients with tuberous sclerosis complex (TSC) who were treated with vagus nerve stimulator at the author's institution at 6 and 12 months. Overall reduction in secondarily generalized seizures was 22% at 12 months (N = 17; 10 boys, 7 girls, aged 3-12 y). |
 | Media file 27: Regression of a giant cell astrocytoma after approximately 15 months oral rapamycin therapy in a 4-year-old patient with tuberous sclerosis. |
More on Tuberous Sclerosis |
| Overview: Tuberous Sclerosis |
| Differential Diagnoses & Workup: Tuberous Sclerosis |
| Treatment & Medication: Tuberous Sclerosis |
| Follow-up: Tuberous Sclerosis |
 Multimedia: Tuberous Sclerosis |
| References |
| « Previous Page |
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Further Reading
Keywords
tuberous sclerosis complex, Bourneville disease. Bourneville's disease, epiloia, Vogt triad, Vogt's triad, angiomyolipoma, lymphangiomyomatosis, polycystic kidney disease, renal cell carcinoma, intractable epilepsy, medically refractory epilepsy, mental retardation, adenoma sebaceum, hamartoma, subependymal nodule, subependymal giant cell astrocytoma, SEGA
