2. Summary
Hx 32 yrs. old woman with known history of epilepsy
CC.. Profound red urine for 1 day
HPI Profound red urine up to 3-4 episodes, large in volume
contain large clots. No offensive order, also with dysuria,
urgency and incontinence
She didn’t have any other orificial bleeding,
Associated with SOB, fatigue, blackout, palpitation
On day 2 she developed chest pain and cough
3. Summary
Fmhx 2 of her uncles died from tumors of unknown origin
at around 40 years of age
4. Phsyicals
Vitals BP 150/90 P. 100 O2 stat 96% T 36.5 RR 26
RBG 207 FBS 124
Day 2 vitals
BP 140/90 P. 96 O2stat 88% T 37.4 RR 22
RBG 207 FBS 124
Generally, middle aged woman looking sick
HEENT, severe pallor, multiple scalp hemartomas/ hypopigmented irregular plaque
Nails, ungual fibromas
Back multiple hypopigmented macules/
5. Cardiac:- unremarkable
Lungs:- unremarkable on day 2 :- crackles on left posterior
leg
Abdomen mild lower abdominal tenderness
6. Date Day 1 on admission Day 2 on admission Day 6 on admission
HGB 8.6 9.2 9.4
MCV 86 86
PLT 227 Normal
Cr 1.2 1
BUN 37.5
PT 18.6
PTT 37.4
INR 1.3
7. Urine analysis
:- WBS 10-12 leukocyte esterase ++
PROTEIN ++ RBC NEMOROUS
BLOOD GROUP AND CROSS MATCH
15. For bleeding diathesis
Gross hematuria
Against
No other bleeding orifices
No thrombocytopenia
Not explains masses of
kidney uterus peritoneum
lungs and brain
18. Painless gross hematuria
HTN
Don’t explains
dermatological
manifestation and
Hx of epilepsy in the patient
RCC are common in elderly
male smoker
No constitutional signs
FOR RCC Against
19. Assessments
1. Iron deficiency anemia
2. UTI
3. CAP
4. HTN
5. CKD
6. TUBEROUS
SCELEROSIS
PLAN
• Two Units of blood given
superheema 1 ampule TID
• Ceftriaxone 1g IV BID
• Azithromycin 500mg PO OD
• Tramadol 100mg IM PRN
• 1 liter fluid maintainence of NS
• 2.5 litters of NS irrigation
• Catheterization and UOP monitoring
25. Genetics
• AD transmission, variability in symptoms.
• Mutation on either TSC1 (Tuberous sclerosis) gene
•
(chromosome 9) or TSC2 gene (chromosome 16).
• Gross deletion/insertions and micromutations.
• 60-70 are sporadic (new mutations).
26. history, exam, investigation allows definitive diagnosis in 95-98. using criteria
Affected parents have a 50 chance of having an affected child.
27. Clinical features
TSC is characterized by the development of a variety of benign tumors in multiple organs,
including the brain, heart, skin, eyes, kidney, lung, and liver .
In addition, there is an increased risk of malignancy in TSC.
Nearly all patients with TSC have one or more of the skin lesions that are characteristic
of the disorder.
Most patients with TSC have epilepsy, and one-half or more have cognitive deficits and
learning disabilities; autism, behavioral problems, and psychosocial difficulties .
These problems are usually associated with brain lesions including glioneuronal
hamartomas (also called tubers),
32. Brain lesions
Central nervous system lesions
characteristic of TSC include
●Glioneuronal hamartomas, also called
cortical tubers
●Subependymal nodules
●Subependymal giant cell tumors
33. Renal manifestations
Angiomyolipomas are the most common
benign cysts
Lymphangiomas
PCKD1
renal cell carcinoma occur.
angiomyolipoma's may cause hemorrhage.
Patients with tuberous sclerosis and renal lesions may have
renin-dependent hypertension
chronic kidney disease
34.
35. Pulmonary manifestations —
lymphangioleiomyomatosis (LAM).
This condition represents a cystic lung disease that can result in
significant limitation in pulmonary function.
The most common presenting features of LAM are dyspnea and
pneumothorax. later on may develop hypoxia pleural effusion and
pulmonary HTN
Among adults with TSC, the prevalence of LAM is higher for women
than for men.
37. Cardiac manifestation
The characteristic cardiac feature of TSC is a rhabdomyoma, a
benign tumor that often presents as multiple lesions.
Cardiac rhabdomyomas are one of the most common pediatric
cardiac tumors.
41. Work up
Hx and PE
CNS neurocognitive symptoms and MRI
Renal Cr and BUN and renal imagine
CARDIAC ECG for arrythmias and echo for cardiac tumors
For lungs X-ray and CT and spirometry and
For skin do biopsy
CBC for anemias and infxns
42. Prognosis
TSC is a progressive disorder
The individual features tend to emerge at different times
The severity of disease can vary substantially among affected individuals;
some may demonstrate only dermatologic features of the disease while
others may develop more serious neurologic or systemic manifestations.
43. Goals of treatment
Minimize symptoms
Treat complication
Treatment of epilepsy
Improve quality of live
Remove large tumors impairing other organ functions
