Presentation1, radiological imaging of tuberous sclerosis.

Health&Medicine

1. Radiological imaging of tuberous sclerosis. Dr/ ABD ALLAH NAZEER . MD.

2. Tuberous sclerosis (TS), also known as tuberous sclerosis complex or Bourneville disease, is a neurocutaneous disorder ( phakomatosis ) characterised by the development of multiple benign tumours of the embryonic ectoderm (e.g. skin, eyes, and nervous system). Epidemiology Tuberous sclerosis has an incidence of 1:6000-12,000, with most being sporadic. Clinical presentation Tuberous sclerosis was classically described as presenting in childhood with a triad (Vogt triad) of: Seizures : absent in one-quarter of individuals Mental retardation: up to half have normal intelligence Adenoma sebaceum: only present in about three-quarters of patients. The full triad is only seen in a minority of patients (~30%). Therefore, diagnostic criteria have been developed to aid the diagnosis of TS .

3. Radiographic features Tuberous sclerosis has a significant number of manifestations, involving many organ systems. The most common manifestations are: cortical or subependymal  tubers  and white matter abnormalities renal  angiomyolipomas (AML) cardiac rhabdomyoma (s) Neurological  cortical/subcortical tubers : 50% are in the frontal lobe; high T2 and low T1 with only 10% of tubers showing enhancement; frequently calcify after two years of age subependymal hamartomas 88% are associated with calcification, although calcification absent in early childhood visible within the first six months of age. variable signal, frequently high T1 and iso to high T2 enhancement is variable and is not a useful feature in distinguishing them from subependymal giant cell astrocytomas (SGCA); only serial growth is reliable

4. Subependymal giant cell astrocytomas (SGCA) peak occurrence 8-18 years tend to be large and demonstrate growth tend to have intense enhancement white matter abnormalities variable appearance, with nodular, ill-defined, cystic and band-like lesions seen radial bands  are thought to be relatively specific for TS retinal phakomas rarer findings cerebellar atrophy infarcts (due to occlusive vascular disorders) cerebral aneurysms dysgenesis of the corpus callosum Chiari malformations microcephaly arachnoid cysts chordoma

5. Thoracic lymphangiomyomatosis (LAM) rare (1%) some studies have described a lymphangiomyomatosis-like change to be present in 25-40% of female patients with TS indistinguishable from sporadic LAM pneumothorax and chylous pleural effusions common ~80% 10-year survival multifocal micronodular pneumocyte hyperplasia (MMPH) rare characterised by multicentric well demarcated nodular proliferations of type II pneumocytes benign, non-progressive differential diagnoses:  miliary pulmonary opacities cardiac rhabdomyomas benign striated muscle tumour characterised by the presence of spider cells seen in 50-65% of patients with TS 40-80% of patients with cardiac rhabdomyomas have TS multiple or single typically involve the ventricular septum occur before the age of 1 year (75% of cases) typically regress before birth with spontaneous regression in 70% of children by age 4 thoracic duct and aortic/pulmonary artery aneurysm

6. Abdominal  renal angiomyolipoma(s) TS accounts for 20% of all AMLs AMLs seen in 55-75% of patient with TS tend to be multiple, large, bilateral. tend to grow and require surgical treatment, as the probability of hemorrhage is proportional to the size micro and macro aneurysms may be present fat may not be visible in up to 4.5% renal cysts : the TSC2 gene is located adjacent to the PCKD1 gene 18-53 % of patients with TS renal cell carcinoma  and  oncocytomas although rates of RCC are the same as in the general population, in patients with tuberous sclerosis RCCs tend to occur at a younger age retroperitoneal lymphangiomyomatosis Histologically identical to pulmonary LAM retroperitoneal cystic lesions chylous ascites, enlarged lymph nodes, dilatation of thoracic duct gastrointestinal polyps.

7. Musculoskeletal sclerotic bone lesions: 40-66% hyperostosis of inner table of calvaria periosteal new bone scoliosis bone cysts Skin Cutaneous lesions are present in ~95% of cases: hypopigmented macules ( ash leaf spots ): seen in 90% patients.   facial angiofibromas  (Pringle nodules or adenoma sebaceum); seen in 75% of patients fibrous plaques of the forehead (15-20%) confetti lesions : variant of leukoderma spots shagreen patches : seen in 20-30% of patients periungual fibroma ( Koenen tumours ): 20% patients

8. Tuberous Sclerosis with CT and enhanced T1-weighted images through the brain.  

9. Female patient with diagnosed subependymal giant cell astrocytoma at age of 21. Tumor is seen as large inhomogeneous enhancing lobulated lesion localized at frontal horn and body of right lateral ventricle with propagation to body of left lateral ventricle. There is progression in time span of eight years with development of obstructive hydrocephalus (enlargement of atrium and occipital horns, dominantly right). At age of 29 patient was operated on with definite diagnosis of SEGA WHO grade 1.

10. A 9-month-old boy with tuberous sclerosis. (a) Color-coded axial PET image through the brain shows a focus of decreased radiotracer activity in the left frontal convexity. (b) Axial T2-weighted MRI through a comparable location demonstrates multiple hyperintense cortical and subcortical lesions, one of which corresponds to the hypometabolic focus on PET. (c) Axial ictal brain perfusion scan shows persistent decreased activity in the region of tuber in the left cerebral cortex (arrowhead), with increased radiotracer activity in the right frontal region indicating an epileptogenic focus (arrow).

11. A 23-year-old woman with tuberous sclerosis complex and subependymal giant cell astrocytomas. Axial fluid-attenuation inversion-recovery image (A) shows heterogeneous hyperintense masses (subependymal giant cell astrocytomas) located at the frontal horn of the lateral ventricles, near the foramen of Monro (white arrows). Axial contrast-enhanced T1-weighted image (B) shows strong and heterogeneous enhancement of the lesions (white arrows). Note also cortical tubers (black arrows), and subependymal nodule along the right lateral ventricular surface (arrowheads), best depicted on fluid-attenuation inversion-recovery image. 

12.  A 13-year-old boy with tuberous sclerosis complex. Sagittal (A) and coronal (B) T1-weighted images with gadolinium enhancement show a large, protuberant, irregularly thickened, elevated skin patch with an irregular border in the dorsal cervical region, consistent with shagreen patch (arrowheads). Note also in (A) enhancing subependymal nodules (arrows) projecting into the lumen of the lateral ventricle in the region of the foramen of Monro. 

13. Lymphangioleiomyomatosis:   with progressive form of LAM, that led to restrictive ventilation disorder and partial respiratory failure complicated by pneumothoracies twice. Thin-walled cysts of variable size and contour are present in pulmonary parenchyma of both lungs diffusely. Dominant cyst is localized at superior segment of left lower lobe.

14. A 52-year-old woman with tuberous sclerosis complex. Axial (A,B) and coronal (C) CT mini-maximum-intensity projection images show numerous bilateral, variably sized thin-walled cysts, compatible with Lymphangioleiomyomatosis. 

15. Multiple Lungs Cysts in Tuberous Sclerosis.

16. Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex.

17. Axial CT image obtained with the lung window setting shows right-sided pneumothorax and numerous thin-walled cysts scattered throughout the lungs, compatible with lymphangioleiomyomatosis. 

18. Tuberous Sclerosis With Lung Cysts.

19. Cardiac rhabodmyomas.

20. Multimodality imaging of intramyocardial fat in tuberous sclerosis.

21. Multiple small echogenic lesions in the kidney are compatible with  angiomyolipomas  in a patient with  tuberous sclerosis .

22. Tuberous sclerosis - multiple angiomyolipomas.

23. Multiple angiomyolipomas.

24.   Aneurysm of AML of left kidney. MDCT of abdomen, 3D-VR reformatted image. 

25. AML of right kidney. 

26. Axial contrast-enhanced CT image shows a large, high-attenuation, enhancing heterogeneous tumour with an aneurysm in the right kidney (arrow). This patient also had a small lipid-poor angiomyolipoma in the left kidney (arrowhead). 

27. Tuberous sclerosis complex and renal angiomyolipomas. Axial unenhanced CT image demonstrates multiple fat-containing tumors in the kidneys. 

28. A 21-year-old woman with tuberous sclerosis complex and multiple renal angiomyolipomas. T1-weighted in-phase gradient-recalled echo image (A) shows a hyperintense right renal mass (arrow). T1-weighted opposed-phase gradient-recalled echo image (B) shows a peripheral India ink artifact at the fat-water interface between the mass and surrounding normal renal parenchyma, a finding diagnostic of lipid-rich angiomyolipoma. T1-weighted fat-suppressed image (C) shows diffuse intralesional low signal intensity in the lipid-rich angiomyolipoma. Note also a lipid-poor angiomyolipoma in the right kidney, appearing as a hyperintense nodular lesion in (A) (arrowhead) and presenting homogeneous internal signal loss in (B) (arrowhead) due to the presence of microscopic amounts of fat within the lesion. 

29. Hepatic AMLs, are group of non-renal AMLs, that are considered to be major features. 

30. Multiple renal cysts.

31. A 27-year-old man with tuberous sclerosis complex. Axial unenhanced CT image shows two well-defined nodular lesions with fat attenuation (arrows) in the liver, compatible with angiomyolipomas. 

32. A 22-year-old woman with tuberous sclerosis complex and sclerotic spinal bone lesions. Axial CT images at the T5 (A) and T8 (B) levels demonstrate round, oval, and elongated sclerotic bone lesions on the anterior aspects of the vertebral bodies, pedicles, laminas, and transverse and spinous processes. 

33. Bony manifestations of tuberous sclerosis complex include both sclerotic and lucent lesions. The sclerotic lesions are most commonly found in the axial skeleton.

34. Tuberous Sclerosis With Incidental Renal Cell Carcinoma.

35. A retinal astrocytoma (mulberry lesion) adjacent to the optic nerve is typical of those found in tuberous sclerosis.

36. Retinal astrocytic hamartoma on background tuberous sclerosis.

37.   Classic cutaneous manifestations of tuberous sclerosis include facial angiofibromas (A), shagreen patch (B), ungual fibromata (C), and poliosis (D).

38. Thank You.