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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
No h/o chest pain/ palpitationsNo h/o cough with expectorationNo h/o facial puffinessNo h/o oliguria, dysuria or hemturiaNo h/o jaundiceNo h/o feverPast history: diagnosed as hypertensive 2 months ago, nit on any treatment no h/o DM / TB/ BAPersonal history: sleep & appetite – normal bowel & bladder habits- regular
Family history: nothing significant
O/E: conscious oriented afebrile pallor+, BPPE + adenoma sebaceum+ shagreen patches + I0 Cy0 Cl0 L0 dyspneic , tachypneic
SHAGREEN PATCHES
ADENOMA SEBACEUM
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
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
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
USG ABDOMEN:Liver- normalRK- 9.0* 3.2 cm, LK- 9.2* 3.2 cms, Multiple cysts present over both kidneys predominantly cortical in distributionRK: largest cyst measures 3* 1.5 cms, an atypical cyst measuring 2.7 * 1.1 cm present in the midpole regionLK: largest cyst measures 2.2 * 1.1 cmsCMD altered
TUBEROUS SCLEROSIS WITH CYSTIC KINDEY
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
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.Lymphangioleiomyomatosis11.Renal angiomyolipoma
Minor criteria 1.Multiple random pits in enamel;2.Hamartomatous rectal polyp3.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
For diagnosis
definite - either 2 major (or) 1 major + 2 minor
probable - 1 major + 1 minor
possible – 1 major (or) 2 or > minor
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 ;
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
CT best demonstrates subependymal nodules >1/4th 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
Other :
cystic rarefaction of phalanx,metacarpals,
long bone
sclerotic areas
RENAL :
angimyolipomas; cystic lesions ;
combination of the above 2 is relatively
specific
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
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
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
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
Life time risk- 2% Clear cell RCC most common
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