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A Case of Tuberous Sclerosis with Cystic Kidney
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A Case of Tuberous Sclerosis with Cystic Kidney

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  • 1.  
  • 2.
    • A 29 yr old female came with
    • pedal edema- 10days,
    • breathlessness for 1 day
    • H/O presenting complaint:
    • Pt was apparently normal till 10 days ago when she developed pedal edema, gradually progressive over the past 10 days
    • h/o breathlessness – 1 day, was present at rest
    • h/o orthopnea,
    • No h/o PND
  • 3.
    • No h/o chest pain/ palpitations
    • No h/o cough with expectoration
    • No h/o facial puffiness
    • No h/o oliguria, dysuria or hemturia
    • No h/o jaundice
    • No h/o fever
    • Past history:
    • diagnosed as hypertensive 2 months ago, nit on any treatment
    • no h/o DM / TB/ BA
    • Personal history:
    • sleep & appetite – normal
    • bowel & bladder habits- regular
  • 4.
    • Family history:
    • nothing significant
    • O/E:
    • conscious
    • oriented
    • afebrile
    • pallor+, BPPE +
    • adenoma sebaceum+
    • shagreen patches +
    • I 0 Cy 0 Cl 0 L 0
    • dyspneic , tachypneic
  • 5. SHAGREEN PATCHES ADENOMA SEBACEUM
  • 6.  
  • 7.
    • vitals:
    • pulse: 86/min regular
    • BP: 170/100 mm Hg
    • CVS: S1S2 heard
    • no murmurs
    • RS: NVBS heard
    • B/L basal creps +
    • P/A: soft, no FF, no organomegaly
    • CNS: no FND
  • 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
  • 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
  • 10.
    • USG ABDOMEN:
    • Liver- normal
    • RK- 9.0* 3.2 cm,
    • LK- 9.2* 3.2 cms,
    • Multiple cysts present over both kidneys predominantly cortical in distribution
    • RK: largest cyst measures 3* 1.5 cms, an atypical cyst measuring 2.7 * 1.1 cm present in the midpole region
    • LK: largest cyst measures 2.2 * 1.1 cms
    • CMD altered
  • 11.  
  • 12.  
  • 13.
    • TUBEROUS SCLEROSIS
    • WITH CYSTIC KINDEY
  • 14.
    • Disorder of cellular proliferation and differentiation;
    • Autosomal dominant with variable penetrance ;
    • Prevalence 1 in 6000 – 9000;
    • TSC 1 – Chr 9 – tuberin
    • TSC 2 – Chr 16 – hamartin
    • both play a part in the m TOR signalling pathway
  • 15.
    • Major criteria
    • 1.Facial angiofibroma/
    • forehead plaque
    • 2.Non traumatic ungual /periungual fibroma
    • 3.>3 hypomelanotic macules ;
    • 4.Shagreen patches
    • 5.Multiple retinal nodular hamartoma
    • 6.Cortical tuber
    • 7.Subependymal nodules
    • 8.Subependymal giant cell astrocytoma
    • 9.Cardiac rhabdomyoma
    • 10.Lymphangioleiomyomatosis
    • 11.Renal angiomyolipoma
  • 16.
    • Minor criteria
    • 1.Multiple random pits in enamel;
    • 2.Hamartomatous rectal polyp
    • 3.Bone cysts ;
    • 4.Cerebral white matter radial migration lines
    • 5.Gingival fibromas
    • 6.Non renal hamartomas ;
    • 7.Retinal achromic patch ;
    • 8.Confetti skin lesions ;
    • 9.Multiple renal cysts
  • 17.
    • For diagnosis
    • definite - either 2 major (or) 1 major +
    • 2 minor
    • probable - 1 major + 1 minor
    • possible – 1 major (or) 2 or > minor
  • 18.
    • SKIN :
    • hypomelanotic macules ;- ash leaf macules /confetti lesions
    • adenoma sebaceoum – ¾ th of patients have ;
    • not present at birth ;
    • increase with age
    • shagreen patch –irregular leathery raised textured skin lesion
    • seen in lumbosacral & gluteal region ;
    • ungual / priungual fibroma - considered relatively specific ;
    • seen > in toes ;
    • others :
    • gingival fibroma , enamel pits ;
  • 19.
    • EYE:
    • retinal tumors – mulberry lesions
    • iris coloboma,
    • iris hypomelanotic spots ;
    • cataracts ;
    • choroid ;
    • lens coloboma
    • CNS:
    • seizures , mental retardation ,behavioural disorders
    • >the no. of cortical tubers > the cognitive impairment
    • some have normal IQ
    • autistic ,aggressive ,frank psychosis
  • 20.
    • CT best demonstrates subependymal nodules
    • >1/4 th have cerebellar anomalies
    • SEGA – subependymal giant cell astrocytoma -6-14%
    • these can enlarge & increase ICP ;
    • CVS:
    • rhabdomyomas; can be prenatally diagnosed ;
    • regresses with time ;
    • LUNG:
    • almost exclusively seen in women ;
    • Lymphangioleiomyomatosis;
    • pulmonary cysts /pneumothorax/pleurisy
    • die within 5 yrs
  • 21.
    • Other :
    • cystic rarefaction of phalanx,metacarpals,
    • long bone
    • sclerotic areas
    • RENAL :
    • angimyolipomas; cystic lesions ;
    • combination of the above 2 is relatively
    • specific
  • 22.
    • Kidney involvement occurs frequently in TSC;
    • renal lesions in 57% of TSC patients.
    • angiomyolipomas (85%), cysts(45%), and renal malignant neoplasms (4%).
    • interstitial fibrosis with focal segmental glomerulosclerosis (FSGS),
    • glomerular microhamartomas, and
    • peripelvic and perirenal lymphangiomatous cysts
    • Renal complications are the most frequent cause of
    • death in TSC
  • 23.
    • hamartomatous structures composed of abnormal, thick-walled vessels and varying amounts of smooth muscle–like cells and adipose tissue
    • the most common renal lesion in TSC patients, evident in ~80% of TSC patients by age 10 years
    • Angiomyolipomas rarely occur before 5 years of age but increase in frequency and size with age .
    • Clinical manifestations are due to hemorrhage or mass effects
    • More common in women
  • 24.
    • Renal cysts occur less frequently than angiomyolipoma (47% versus 80%)
    • renal cysts tend to increase in size and number over time
    • concurrence of cysts and angiomyolipomas, easily detected by CT, is strongly suggestive of TSC.
    • Mostly cortical in distribution, can be glomerular also
  • 25.
    • 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
  • 26.
    • Life time risk- 2%
    • Clear cell RCC most common
  • 27.  
  • 28.  
  • 29.
    • THANK
    • YOU