case presentation of tuberous sclerosis in a 30 year old woman

Tuberous sclerosis (TOO-bur-us skluh-ROH-sis), also called tuberous sclerosis complex (TSC), is an uncommon genetic disorder that causes tumors to develop in many parts of the body. These tumors are not cancer. Noncancerous tumors, also called benign tumors, are overgrowths of cells and tissue that are not expected. Symptoms vary widely, depending on where the growths develop and how big they get.

Tuberous sclerosis is often first found during infancy or childhood. Sometimes tuberous sclerosis can have such mild symptoms that the condition isn't diagnosed until adulthood, or it's not diagnosed at all. Sometimes tuberous sclerosis causes serious disabilities.

There is no cure for tuberous sclerosis, and the course of the disorder and how bad it gets can't be predicted. But treatments are available to manage symptomsTuberous sclerosis symptoms are caused by noncancerous growths in parts of the body, most commonly in the skin, brain, eyes, kidneys, heart and lungs. But any part of the body can be affected. Symptoms can range from mild to severe, depending on the size or location of the growths.

Although symptoms are different for each person with tuberous sclerosis, they can include:

Skin changes. Skin changes are most common. These include patches of lighter skin and small areas of thickened, smooth or bumpy skin. On the forehead, skin can have raised, discolored areas. Small soft bumps under or around the nails may occur. Growths on the face that start in childhood and look like acne are common.
Seizures. Growths in the brain may be linked with seizures. A seizure is often the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm involves stiffening of the arms and legs and arching the back and head.
Problems in thinking, reasoning and learning. Tuberous sclerosis can result in developmental delays. Sometimes it limits the ability to think, reason and learn. Mental health conditions, such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD), also can occur.
Behavior problems. Common behavior problems may include hyperactivity, self-injury or aggression, or issues with social and emotional adjustment.
Kidney problems. Growths on the kidneys are common, and more growths may develop with age.
Heart issues. Growths in the heart, if present, are usually largest at birth and shrink as a child gets older.
Lung problems. Growths that develop in the lungs may cause coughing or trouble breathing, especially with physical activity or exercise. These lung tumors occur more often in females than in males.
Eye problems. Growths can appear as white patches on the light-sensitive tissue at the back of the eye called the retina. These growths usually don't interfere with vision.
Dental changes. Teeth may have pits in the surface. Small growths may appear on the gums, inside of the cheeks and on the tongue.
When to see a doctor
Symptoms of tuberous sclerosis may be noticed at birth. don

1. CASE PRESENTATION DR. MADHUR SAXENA(SENIOR CONSULTANT RADIODIAGNOSIS) DR. SHIVANGI LAHOTY (DNB TRAINEE RADIODIAGNOSIS)

2. A 37 year old woman,who was a known case of Tuberous Sclerosis came for routine follow up examination. She was on anti- epileptics since last 15 years. Family history was positive for cancer(Grandfather suffered from Ca Prostate). HRCT CHEST AND CECT WHOLE ABDOMEN were advised.

3. CT was done and the findings were of radiological importance. HRCT CHEST FINDINGS : Multiple cysts of varying sizes are seen in both lung fields -likely lymphangiomyomatosis.

4. CECT WHOLE ABDOMEN FINDINGS Both kidneys are enlarged in size and almost entirely replaced by large heterogeneous fat density lesions - suggestive of angiomyolipomas.

5. Few tiny cysts are seen in Liver.

6. Multiple sclerotic lesions are seen in visualised vertebrae and ribs.

7. DISCUSSION Tuberous sclerosis is a phakomatosis (neurocutaneous disorder) characterised by the development of multiple benign tumours of the embryonic ectoderm (e.g. skin, eyes, and nervous system). It was classically described as presenting in childhood with a pathognomonic triad (Vogt triad) of: S eizures Intellectual disability Adenoma sebaceum It is an autosomal dominant condition caused due to mutation of two tumour suppressor genes: TSC1: encoding hamartin TSC2: encoding tuberin

8. 1.NEUROLOGICAL FEATURES Cortical/subcortical tubers Subependymal nodules Subependymal giant cell astrocytomas (SGCA) Rarer findings: Cerebellar atrophy Infarcts Cerebral aneurysms Microcephaly RADIOGRAPHIC FEATURES

9. FLAIR MRI image shows multiple hyperintense lesions (arrow) in the cortex, consistent with cortical tubers . NCCT image of the brain shows multiple calcified subependymal nodules

10. ( A)FLAIR MRI image shows a large heterogeneously hyperintense SEGA (arrow). Associated hydrocephalus also is seen. (B) Coronal contrast-enhanced T1-weighted MR image shows avid enhancement within the SEGA (arrow).

11. 2.ABDOMINAL FEATURES Renal angiomyolipoma (AML) Renal cysts Renal cell carcinoma and Oncocytomas Retroperitoneal lymphangiomyomatosis Gastrointestinal polyps Pancreatic neuroendocrine tumours

12. 3.THORACIC FEATURES Lymphangioleiomyomatosis (LAM) Cardiac rhabdomyomas Thoracic duct and aortic/pulmonary artery aneurysm Myocardial fatty foci / cardiac fat containing lesions

13. Fetal echocardiograms show multiple solid hyperechoic lesions (arrows) in the right and left ventricles (V). These lesions are diagnostic of cardiac rhabdomyomas.

14. 4.MUSCULOSKELETAL FEATURES Sclerotic bone lesions Hyperostosis of the inner table of the calvaria Scoliosis Bone cysts 5.DERMATOLOGIC FEATURES -Cutaneous lesions are present in ~95% of cases, but are rarely appreciated radiographically: Hypopigmented macules Facial angiofibromas Shagreen patches Confetti lesions

15. DIAGNOSTIC CRITERIA GENETIC CRITERIA The identification of either a TSC1 or TSC2 pathogenic mutation is sufficient to make a definite diagnosis of tuberous sclerosis complex.

16. CLINICAL CRITERIA E ither 2 major features or 1 major and 2 or more minor features should be present to make the diagnosis. MAJOR FEATURES angiofibromas (3 or more) nontraumatic ungual or periungual fibroma (2 or more) hypomelanotic macules (3 or more, at least 5 mm diameter) shagreen patch multiple retinal nodular hamartomas Subependymal nodule Subependymal giant cell astrocytoma Cardiac rhabdomyoma

17. L ymphangioleiomyomatosis (LAM) Angiomyolipomas (2 or more) A combination of the two following major features (LAM and angiomyolipomas) without other feature does not meet criteria for a definite diagnosis of TSC. MINOR FEATURES Dental enamel pits Nonrenal hamartomas Retinal achromic patch 'Confetti' skin lesions Multiple renal cysts

18. THANK YOU