<ul><li>A 29  yr old female came with  </li></ul><ul><li>pedal edema- 10days, </li></ul><ul><li>breathlessness for 1 day <...
<ul><li>No h/o chest pain/ palpitations </li></ul><ul><li>No h/o cough with expectoration </li></ul><ul><li>No h/o facial ...
<ul><li>Family history:  </li></ul><ul><li>nothing significant </li></ul><ul><li>O/E:  </li></ul><ul><li>conscious </li></...
SHAGREEN PATCHES ADENOMA SEBACEUM
 
<ul><li>vitals: </li></ul><ul><li>pulse: 86/min regular </li></ul><ul><li>BP: 170/100 mm Hg </li></ul><ul><li>CVS: S1S2 he...
Hb 8.3 gm/dl TC , DC 4,000 cells/ cu mm, P68 L31 E1 ESR 20/40 platelets 1.7 lakhs/ cu mm RBS 100 mg/dl Urea 120 mg/dl crea...
Na 135 mEq/L K 3.5 mEq/l Cl 100 m Eq/l HCO3 20 m Eq/l Peripheral smear Microcytic hypochromic anemia 24 hr urine protein 2...
<ul><li>USG ABDOMEN: </li></ul><ul><li>Liver- normal </li></ul><ul><li>RK- 9.0* 3.2 cm,  </li></ul><ul><li>LK- 9.2* 3.2 cm...
 
 
<ul><li>TUBEROUS SCLEROSIS  </li></ul><ul><li>WITH CYSTIC KINDEY </li></ul>
<ul><li>Disorder of cellular proliferation and differentiation; </li></ul><ul><li>Autosomal dominant with variable penetra...
<ul><li>Major criteria  </li></ul><ul><li>1.Facial angiofibroma/ </li></ul><ul><li>forehead plaque  </li></ul><ul><li>2.No...
<ul><li>Minor criteria  </li></ul><ul><li>1.Multiple random pits in enamel; </li></ul><ul><li>2.Hamartomatous rectal polyp...
<ul><li>For diagnosis  </li></ul><ul><li>definite  -  either 2 major  (or) 1 major +  </li></ul><ul><li>2 minor </li></ul>...
<ul><li>SKIN : </li></ul><ul><li>hypomelanotic macules ;- ash leaf macules /confetti lesions  </li></ul><ul><li>adenoma se...
<ul><li>EYE: </li></ul><ul><li>retinal tumors –  mulberry lesions  </li></ul><ul><li>iris coloboma,  </li></ul><ul><li>iri...
<ul><li>CT best demonstrates subependymal nodules  </li></ul><ul><li>>1/4 th  have cerebellar anomalies  </li></ul><ul><li...
<ul><li>Other : </li></ul><ul><li>cystic rarefaction of phalanx,metacarpals,  </li></ul><ul><li>long bone  </li></ul><ul><...
<ul><li>Kidney involvement occurs frequently in TSC;  </li></ul><ul><li>renal lesions in  57%  of TSC patients. </li></ul>...
<ul><li>hamartomatous structures composed of abnormal, thick-walled vessels and varying amounts of smooth muscle–like cell...
<ul><li>Renal cysts occur less frequently than angiomyolipoma (47% versus 80%) </li></ul><ul><li>renal cysts tend to incre...
<ul><li>The epithelial lining of the cysts is distinctive and appears to be unique to TSC, with large and  acidophilic epi...
<ul><li>Life time risk- 2% </li></ul><ul><li>Clear cell RCC most common </li></ul>
 
 
<ul><li>THANK  </li></ul><ul><li>YOU </li></ul>
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A Case of Tuberous Sclerosis with Cystic Kidney

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A Case of Tuberous Sclerosis with Cystic Kidney

  1. 2. <ul><li>A 29 yr old female came with </li></ul><ul><li>pedal edema- 10days, </li></ul><ul><li>breathlessness for 1 day </li></ul><ul><li>H/O presenting complaint: </li></ul><ul><li>Pt was apparently normal till 10 days ago when she developed pedal edema, gradually progressive over the past 10 days </li></ul><ul><li>h/o breathlessness – 1 day, was present at rest </li></ul><ul><li>h/o orthopnea, </li></ul><ul><li>No h/o PND </li></ul>
  2. 3. <ul><li>No h/o chest pain/ palpitations </li></ul><ul><li>No h/o cough with expectoration </li></ul><ul><li>No h/o facial puffiness </li></ul><ul><li>No h/o oliguria, dysuria or hemturia </li></ul><ul><li>No h/o jaundice </li></ul><ul><li>No h/o fever </li></ul><ul><li>Past history: </li></ul><ul><li>diagnosed as hypertensive 2 months ago, nit on any treatment </li></ul><ul><li>no h/o DM / TB/ BA </li></ul><ul><li>Personal history: </li></ul><ul><li>sleep & appetite – normal </li></ul><ul><li>bowel & bladder habits- regular </li></ul>
  3. 4. <ul><li>Family history: </li></ul><ul><li>nothing significant </li></ul><ul><li>O/E: </li></ul><ul><li>conscious </li></ul><ul><li>oriented </li></ul><ul><li>afebrile </li></ul><ul><li>pallor+, BPPE + </li></ul><ul><li>adenoma sebaceum+ </li></ul><ul><li>shagreen patches + </li></ul><ul><li>I 0 Cy 0 Cl 0 L 0 </li></ul><ul><li>dyspneic , tachypneic </li></ul>
  4. 5. SHAGREEN PATCHES ADENOMA SEBACEUM
  5. 7. <ul><li>vitals: </li></ul><ul><li>pulse: 86/min regular </li></ul><ul><li>BP: 170/100 mm Hg </li></ul><ul><li>CVS: S1S2 heard </li></ul><ul><li>no murmurs </li></ul><ul><li>RS: NVBS heard </li></ul><ul><li>B/L basal creps + </li></ul><ul><li>P/A: soft, no FF, no organomegaly </li></ul><ul><li>CNS: no FND </li></ul>
  6. 8. Hb 8.3 gm/dl TC , DC 4,000 cells/ cu mm, P68 L31 E1 ESR 20/40 platelets 1.7 lakhs/ cu mm RBS 100 mg/dl Urea 120 mg/dl creatinine 6.5 mg/dl Urine routine normal
  7. 9. Na 135 mEq/L K 3.5 mEq/l Cl 100 m Eq/l HCO3 20 m Eq/l Peripheral smear Microcytic hypochromic anemia 24 hr urine protein 230 mg ANA negative
  8. 10. <ul><li>USG ABDOMEN: </li></ul><ul><li>Liver- normal </li></ul><ul><li>RK- 9.0* 3.2 cm, </li></ul><ul><li>LK- 9.2* 3.2 cms, </li></ul><ul><li>Multiple cysts present over both kidneys predominantly cortical in distribution </li></ul><ul><li>RK: largest cyst measures 3* 1.5 cms, an atypical cyst measuring 2.7 * 1.1 cm present in the midpole region </li></ul><ul><li>LK: largest cyst measures 2.2 * 1.1 cms </li></ul><ul><li>CMD altered </li></ul>
  9. 13. <ul><li>TUBEROUS SCLEROSIS </li></ul><ul><li>WITH CYSTIC KINDEY </li></ul>
  10. 14. <ul><li>Disorder of cellular proliferation and differentiation; </li></ul><ul><li>Autosomal dominant with variable penetrance ; </li></ul><ul><li>Prevalence 1 in 6000 – 9000; </li></ul><ul><li>TSC 1 – Chr 9 – tuberin </li></ul><ul><li>TSC 2 – Chr 16 – hamartin </li></ul><ul><li>both play a part in the m TOR signalling pathway </li></ul>
  11. 15. <ul><li>Major criteria </li></ul><ul><li>1.Facial angiofibroma/ </li></ul><ul><li>forehead plaque </li></ul><ul><li>2.Non traumatic ungual /periungual fibroma </li></ul><ul><li>3.>3 hypomelanotic macules ; </li></ul><ul><li>4.Shagreen patches </li></ul><ul><li>5.Multiple retinal nodular hamartoma </li></ul><ul><li>6.Cortical tuber </li></ul><ul><li>7.Subependymal nodules </li></ul><ul><li>8.Subependymal giant cell astrocytoma </li></ul><ul><li>9.Cardiac rhabdomyoma </li></ul><ul><li>10.Lymphangioleiomyomatosis </li></ul><ul><li>11.Renal angiomyolipoma </li></ul>
  12. 16. <ul><li>Minor criteria </li></ul><ul><li>1.Multiple random pits in enamel; </li></ul><ul><li>2.Hamartomatous rectal polyp </li></ul><ul><li>3.Bone cysts ; </li></ul><ul><li>4.Cerebral white matter radial migration lines </li></ul><ul><li>5.Gingival fibromas </li></ul><ul><li>6.Non renal hamartomas ; </li></ul><ul><li>7.Retinal achromic patch ; </li></ul><ul><li>8.Confetti skin lesions ; </li></ul><ul><li>9.Multiple renal cysts </li></ul>
  13. 17. <ul><li>For diagnosis </li></ul><ul><li>definite - either 2 major (or) 1 major + </li></ul><ul><li>2 minor </li></ul><ul><li>probable - 1 major + 1 minor </li></ul><ul><li>possible – 1 major (or) 2 or > minor </li></ul>
  14. 18. <ul><li>SKIN : </li></ul><ul><li>hypomelanotic macules ;- ash leaf macules /confetti lesions </li></ul><ul><li>adenoma sebaceoum – ¾ th of patients have ; </li></ul><ul><li>not present at birth ; </li></ul><ul><li>increase with age </li></ul><ul><li>shagreen patch –irregular leathery raised textured skin lesion </li></ul><ul><li>seen in lumbosacral & gluteal region ; </li></ul><ul><li>ungual / priungual fibroma - considered relatively specific ; </li></ul><ul><li>seen > in toes ; </li></ul><ul><li>others : </li></ul><ul><li>gingival fibroma , enamel pits ; </li></ul>
  15. 19. <ul><li>EYE: </li></ul><ul><li>retinal tumors – mulberry lesions </li></ul><ul><li>iris coloboma, </li></ul><ul><li>iris hypomelanotic spots ; </li></ul><ul><li>cataracts ; </li></ul><ul><li>choroid ; </li></ul><ul><li>lens coloboma </li></ul><ul><li>CNS: </li></ul><ul><li>seizures , mental retardation ,behavioural disorders </li></ul><ul><li>>the no. of cortical tubers > the cognitive impairment </li></ul><ul><li>some have normal IQ </li></ul><ul><li>autistic ,aggressive ,frank psychosis </li></ul>
  16. 20. <ul><li>CT best demonstrates subependymal nodules </li></ul><ul><li>>1/4 th have cerebellar anomalies </li></ul><ul><li>SEGA – subependymal giant cell astrocytoma -6-14% </li></ul><ul><li>these can enlarge & increase ICP ; </li></ul><ul><li>CVS: </li></ul><ul><li>rhabdomyomas; can be prenatally diagnosed ; </li></ul><ul><li>regresses with time ; </li></ul><ul><li>LUNG: </li></ul><ul><li>almost exclusively seen in women ; </li></ul><ul><li>Lymphangioleiomyomatosis; </li></ul><ul><li>pulmonary cysts /pneumothorax/pleurisy </li></ul><ul><li>die within 5 yrs </li></ul>
  17. 21. <ul><li>Other : </li></ul><ul><li>cystic rarefaction of phalanx,metacarpals, </li></ul><ul><li>long bone </li></ul><ul><li>sclerotic areas </li></ul><ul><li>RENAL : </li></ul><ul><li>angimyolipomas; cystic lesions ; </li></ul><ul><li>combination of the above 2 is relatively </li></ul><ul><li>specific </li></ul>
  18. 22. <ul><li>Kidney involvement occurs frequently in TSC; </li></ul><ul><li>renal lesions in 57% of TSC patients. </li></ul><ul><li>angiomyolipomas (85%), cysts(45%), and renal malignant neoplasms (4%). </li></ul><ul><li>interstitial fibrosis with focal segmental glomerulosclerosis (FSGS), </li></ul><ul><li>glomerular microhamartomas, and </li></ul><ul><li>peripelvic and perirenal lymphangiomatous cysts </li></ul><ul><li>Renal complications are the most frequent cause of </li></ul><ul><li>death in TSC </li></ul>
  19. 23. <ul><li>hamartomatous structures composed of abnormal, thick-walled vessels and varying amounts of smooth muscle–like cells and adipose tissue </li></ul><ul><li>the most common renal lesion in TSC patients, evident in ~80% of TSC patients by age 10 years </li></ul><ul><li>Angiomyolipomas rarely occur before 5 years of age but increase in frequency and size with age . </li></ul><ul><li>Clinical manifestations are due to hemorrhage or mass effects </li></ul><ul><li>More common in women </li></ul>
  20. 24. <ul><li>Renal cysts occur less frequently than angiomyolipoma (47% versus 80%) </li></ul><ul><li>renal cysts tend to increase in size and number over time </li></ul><ul><li>concurrence of cysts and angiomyolipomas, easily detected by CT, is strongly suggestive of TSC. </li></ul><ul><li>Mostly cortical in distribution, can be glomerular also </li></ul>
  21. 25. <ul><li>The epithelial lining of the cysts is distinctive and appears to be unique to TSC, with large and acidophilic epithelia containing large hyperchromatic nuclei with occasional mitotic figures </li></ul>
  22. 26. <ul><li>Life time risk- 2% </li></ul><ul><li>Clear cell RCC most common </li></ul>
  23. 29. <ul><li>THANK </li></ul><ul><li>YOU </li></ul>
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