A 30-year-old man presented with a right testicular mass and bilateral gynecomastia. Radical right orchiectomy showed a Leydig cell tumor on histopathology. A 55-year-old man with resting tremors, rigidity, and bradykinesia was diagnosed with Parkinson's disease. After 2 months on Levodopa therapy with no improvement, the most likely diagnosis is multiple system atrophy. Neuropathological examination would show alpha-synuclein and ubiquitin deposits. A 9-month-old boy with poor weight gain, bulky stools, and Bitot spots was found to have a mutation in the microsomal triglycer

2. ROUND 2- POTPOURRI
This round has a total of 12 vignettes.
Each team will be given 2 vignettes with two parts each . Each part is for
20 marks and no negatives.
The score card of round 1 will decide the chit picking order of this round.
YOU CAN GO ON TO THE SECOND PART ONLY AFTER ANSWERING THE
FIRST. If answered wrong, you are not allowed to attempt second part.
Teams will be given two minutes per VIGNETTE after being read aloud by
QM.

3. A
B
C
D
E
F

4. • A 29-year-old Caucasian man presented to the endocrinology
department with a recent right testicular mass observed during self-
examination.
Patient also has bilateral gynecomastia.
The tumor markers (AFP, β-hCG and PLAP) were also negative.
Radical right high orchiectomy was performed and the specimen has
been submitted for histopathological examination.
A1

6. Q1 Diagnosis?

7. Q2 What is the histopathology finding shown?

9. 1)Leydig Cell Tumor
2)Reinke crystalloids

11. • A 55 year old Caucasian male comes to the office because of numerous
falls for the past few weeks. Recently, he felt so dizzy that he fell on the
ground that hurt his knees. He also noticed dry mouth, dry skin and
erectile dysfunction over this period. His past medical history is significant
for the recent onset of resting tremors. He was diagnosed with diabetes six
months ago, which is controlled with diet. His blood pressure is 121/84
supine and 92/61 standing. Physical examination reveals rigidity and
bradykinesia. Patient is started on Levodopa therapy. But the symptoms
haven’t improved after 2 months of therapy.
A2

12. Q1 What is the most likely diagnosis of this patient?

13. Q2 If the neuropathological examination of his brain was
done which 2 markers would you use to prove your
diagnosis?

15. 1)Multiple System Atrophy (Shy-Drager type)
2)Alpha-synuclein and ubiquitin
Back

17. • 9 month year old boy is being evaluated for poor weight gain since
birth. He is noted to have bulky and greasy stools. The stools are also
foul smelling. On examination child showed Bitot spots and corneal
opacities. Double malleoli and widened wrists were also observed. A
jejunal biopsy finding is shown.
B1

18. This specimen also stained positive with OIL RED -O

19. Q1.Which protein is mutated in this condition?

20. Q2.What is the peripheral blood finding in this
case?

22. 1) Microsomal triglyceride transfer protein
2) Acanthocytic red cells (spur cells)

24. • Mr. Paritosh, 25 year old farmer from Sarlam district, was admitted in medical ward of
GTB hospital with the chief complaints of generalized weakness of whole body, easy
fatigability, difficulty in speaking, drooping of both the eyelids for the past 9 months. All
his symptoms used to be worse on exertion especially in the evening hours. These
complaints were associated with diplopia on prolonged reading, fatigue on chewing,
difficulty in swallowing solid foods and pain in the neck. On examination his vitals were
within normal limits, B/L ptosis 5 mm, ptosis time- 22sec. Bedside ice pack test was
done which showed improvement in these clinical findings. The doctor prescribed him
prednisolone after doing a plasmapheresis first.
B2

25. Q1. In this patient, anti AChR antibody was
negative. Name any other antibody that Dr House
should order to confirm his clinical suspicion in this
case?

26. Q2. After flaunting his prowess as a diagnostician,
Dr House ordered Dr Eleven to get a CT done. What
is going on inside House’s brain?

28. 1)Anti-MUSK antibody
2)Thymoma
Back

30. • A 32-year-old male presented with a sudden onset of blurry vision in
his left eye in 2002. On investigation, he was found to have following
fundoscopic finding and bilateral renal tumor. A CECT scan of the
abdomen revealed bilateral renal tumors (4 cm on the right side and 1
cm on the left side) and multiple pancreatic cysts along with a mass in
left adrenal. A twin brother was also affected and underwent surgery
for bleeding from cerebellar hemangioblastoma.
• Their father died of renal cancer in his 30s.
• After a preoperative workup, a right partial nephrectomy was done.
A frozen section revealed the margins were tumor free.
Histopathology shown.
C1

32. Q1 Considering a germline mutation in this case, what is
the likely chromosome involved?

33. Q2 What is the pathogenesis of the disease?

35. 1) 3p
2) Key Words
• E3 ligase, ubiquitin pathway
• HIF-1
• VEGF

37. • A 53 year old woman comes to medicine OPD with various complaints. She complains of tingling and pin-prick
sensations in her legs, along with which she is feeling weakness in her legs- initially difficulty to wear slippers, but
now troubling for her to even stand up from chair.
• On examination, patient is found to have hyperpigmented skin on extensor surfaces of forearms and legs,
increased hair over face, mild pitting edema in B/L lower limbs, slight enlargement of right supraclavicular LN
(1.5cm) and mild splenomegaly using hooked fingers method.
• On routine labs and CMP, primary hypothyroidism was incidentally found. No hypercalcemia was noted.
• Urine showed trace protein on dipstick. SPEP shows monoclonal Ig-G lambda. (IgG-λ).
• Lumber puncture revealed high proteins and pressure in CSF but all the cell counts were normal.
• Biopsy from the lymph node was taken, shown in next slide, and cells stained positive with CD 138 IHC marker.
• Skeletal survey shows osteosclerotic lesions in T-10 vertebra and Rt iliac bone.
C2

39. Q1. What is your diagnosis?

40. Q2. What is the most common growth factor raised
in this diagnosis?

42. 1)POEMS syndrome
• Polyneuropathy
• Organomegaly
• Endocrinopathy
• Monoclonal gammopathy
• Skin Changes
2)VEGF
Back

43. • A previously healthy 51-year-old Asian man presented with a 2-year
history of nonpruritic, hyperpigmented lesions that initially started as
small, eczema like, erythematous patches on his legs. There was no
family history of eczema and atopy. The lesions progressed to
extremely itchy plaques as shown. Biopsy was performed (shown).The
cells were also positive for CD4
• Peripheral smear was normal and there was no lymphadenopathy.
D1

45. Q1 Diagnosis?

46. Q2 What are the features you will look for to
diagnose it as Sezary Syndrome?

48. 1) Mycosis fungoides
2) Generalized exfoliative erythroderma
Sezary cells with cerebriform nuclei
Lymphadenopathy

49. • A 56-year-old woman presented with severe abdominal pain for the past 2 weeks. Before that,
she had intermittent low-grade abdominal pain for the past 4 months. During her recent visit to
Boston a few months ago, she was diagnosed with splenic enlargement and had her spleen
removed. On evaluation at our facility in GTB, the lymph node biopsy revealed diffuse large b-cell
lymphoma for which she received R-CHOP chemotherapy (cyclophosphamide, doxorubicin,
vincristine, prednisone, and rituximab). Within 4 days of the first cycle of chemotherapy, she
started feeling decreased sensations in fingers which progressed to all four limbs and muscle
weakness. On examination, light touch and pain (pinprick) in all 4 limbs distal to both elbows and
knees were decreased with motor weakness grade 3/5 in all 4 limbs. On further enquiry she told
that she has feet just like her siblings and her father as shown below. Proximal arm muscles were
spared. The nerve conduction study and electromyography were consistent with severe diffuse
sensory and motor peripheral neuropathy. Genetic testing showed a pathogenic variant and
duplication of a gene on chromosome 17. Electron microscopy of nerve biopsy shows the
following :
D2

51. Q1 What is the gene involved?

52. Q2 Explain the mechanism by which the disease
showcased itself in this condition

54. 1)PMP22
2)Vincristin causing peripheral neuropathy which has
unmasked CMT
Back

55. • A 58 year old male farmer presented to OPD with complaints of
shortness of breath, fatigue and spontaneous bleeding from
gums. On examination, patient had an enlarged spleen and liver
but no lymphadenopathy. Oral cavity examination shows
lesions corresponding to candida infection.
• Blood examination revealed anaemia which is normocytic
normochromic type with monocytopenia
• Immunophenotyping- CD19+, CD20+, CD11c+, CD25+
E1

56. • Q1 Diagnosis ?

57. Q2) What mutation happens in a B cell which gives rise to this pathology?

59. 1) Patient has hairy cell leukaemia as evident by splenomegaly,
anaemia and bleeding manifestations with specific
immunophenotype.
2) BRAF V600E mutation takes place in late, activated memory B
cell

61. A 30 yr old woman comes to Gynae OPD. She has 3 months
amenorrhea with complaints of bleeding PV for past 1 day. She is G2 P1
L2 with last child birth 1.5 yrs back.
She has multiple episodes of non-bloody and non-bilious emesis.
Currently, her vitals are stable.
P/A- Uterus palpable.
P/V- Uterus 16 week size doughy feeling
Fornices free
Grape like vesicles discharge during P/V
D&C is performed and the mass is sent for HPE.
E2

63. Q1)What IHC stain should pathologist use to
confirm his diagnosis?

64. Q2) Explain the genetic basis behind the use of this
marker.

66. 1)p57 staining
2)Genomic imprinting
Back

68. • An 8 month old was rushed to the emergency department with a 5 day history of tachypnea, dry cough and lethargy.
There was no fever or coryzal symptoms in this period. On examination he was afebrile to touch and his RR was 80per
minute , and SpO2 was 65 percent. Peripheral pulses were normal. No hepatosplenomegaly was noted .Investigations
showed B/L lung consolidations .TLC: 26000 /mm3. BAL fluid was taken for examination and GMS stain showed as
shown on next slide
• On further inquiry this was the second such episode which was much much more serious than the first which
occurred at 6 months after which the child started losing weight too.Suspecting an immunodeficiency , the doctors
ordered for a Ig panel which showed:
• Ig E low
Ig A low
Ig M high
F1

70. Q1.What is the most common mutation seen in
this condition?

71. Q2.If CD40 and CD 40 ligand levels are normal
what enzyme test will help you clinch the
diagnosis?

73. 1) CD 40 ligand mutation
2) Activation induced cytidine deaminase

75. • 30 year old male who came to the endocrinology clinic with a chief complaint of
deformity of both lower limbs since childhood . There was history of fall from 3 stairs
years back when he developed fracture in left thigh. Patient again fell from bed 2
months back and injured his right thigh. There is history of similar complaints of
deformities of limbs and fragility fractures in other family members (as shown in
pedigree chart below). He has no history of polyuria, jaundice, recurrent chest
infections or recurrent attacks of diarrhea, anticonvulsant drugs intake. On
examination he has genu varum deformity in both lower limbs with open fracture of
right femur. He has no history of alopecia. His Xray shows loosers zones.
F2

76. • Labs show :
Serum Calcium 9.4 mg/dL
Serum Phosphate 2.2 mg/dL (4-7)
ALP 300 IU/L
PTH Normal
Urine Phosphate High
25-OH and 1-25 OH
vitamin D
Normal

78. Q1 What is your diagnosis?

79. Q2 What will be FGF 23 levels in this case?(explain)

81. 1)X linked hypophosphatemia
2)FGF 23 will be high
Back