health care

1. GRAND ROUND
TUBEROUS
SCLEROSIS
Moderator: Samir Abdi M.D (Internist)
Presenter: Abdirisak Jacda M.D (R1 IM)
2/4/2023

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

8. Abdomino-Pelvic CT

9.  On day 2 she developed worsened SOB, cough and
chestpain
 On exam hypoxia
 On respiratory exam right lower posterior cracles

10.  X-ray
 7-8 cystic lesions on both lungs
 Bilateral lower lope heterogenous opacification

11.  Pictures of her rash
 FOLDER

12. DDX
 BLEEDING DIATHESIS
 Renal cell carcinoma
 Tuberous sclerosis

15. For bleeding diathesis
 Gross hematuria
Against
No other bleeding orifices
 No thrombocytopenia
 Not explains masses of
kidney uterus peritoneum
lungs and brain

16. Renal cell carcinoma

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

20. TUBEROUS SCELEROSIS
Most likely diagnose

21. Definition
Epidemiology and pattern of inheritance
Clinical manifestation
Diagnosis
Treatment
Outline

22. Definition

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),

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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

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.

36. Ophthalmic manifestation
 Retinal hamartomas were seen in 44 patients

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.

38. Diagnosis

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

45. Management