The document discusses two conditions: paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS). PNH is a complement-mediated hemolytic anemia treated with the drug eculizumab, a C5a inhibitor. aHUS is a complement-mediated thrombotic microangiopathy that can cause stroke, heart attack, and kidney failure, and is also treated with eculizumab. The document asks the reader to identify PNH, aHUS, and the mode of action of eculizumab.

1. Junior Medillectuals
SYNAPSE’19

2. Q1. X is a complementopathy occuring due to the presence of certain
defective surface protein on red blood cells, with subsequent hemolysis
leading to intravascular hemolytic anemia.X is the only hemolytic anemia
caused by an acquired (rather than inherited) intrinsic defect in the cell
membrane. Only a minority of affected people have the telltale symptom
that originally gave the condition its name. X is treated with the drug Y. Y is
used for the treatment of another condition, Z, characterised by widespread
systemic microvascular thrombosis, which can lead to stroke, heart attack,
heart failure and death. Also a complementopathy, it may arise due to
mutations in complement regulatory proteins (factor H, factor I or Membrane
Cofactor Protein). Z progressed to ESRD in 40% of the patients; however, Y
has radically changed the prognosis of the disease, leading to remission in
almost all the patients who can afford it. ID X and Z. Give the mode of action
of Y. 1+1+1=3

3. X is PNH
Y is eculizumab(C5a inhibitor)
Z is atypical HUS

4. Q2. A 55-year old female patient of Turkish descent presented with an erysipelas-like-
eruption over the left gluteal region refractory to antibiotic treatment. Family and personal
history were inconspicuous, especially for diabetes mellitus. Patient also complained of
pyrexia peaking at 40.5°C, episodic abdominal pain, fatigue, muscle, joint, and even chest
pain. In the past, these general symptoms were considered as being para-infectious defining
bacterial erysipelas. Intriguingly, after termination of antibiotic therapy, the skin lesion locally
recurred usually within a week presenting with the same clinical signs and symptoms.
Laboratory investigations were normal and showed only elevated serum creatinine and blood
urea nitrogen levels. Rheumatoid factors, ferritin, angiotensin-converting enzyme (ACE) and
lymphocytic subpopulation were within normal ranges. Merely, C-reactive protein and
peripheral neutrophils were slightly elevated during the phases of clinically obvious
inflammation. Clinical signs and symptoms showed an undulating course, with phases of
recovery and direct aggravation always being attended by episodes of high fever. Due to the
gluteal location of the cutaneous erythema, the patient was examined proctologically and a
magnetic resonance image (MRI) of the pelvis and chest was conducted that both showed
no signs of vasculitis or hidden inflammatory foci. A kidney biopsy revealed amyloidosis.
1) What is your diagnosis?
2) What is the drug of choice for this condition? 1+1=2

5. Familial Mediterranean fever
Drug of choice is colchicine.

6. Q3. Sir William Osler was a Canadian physician and one of the
four founding professors of Johns Hopkins Hospital in Baltimore.
He created the first residency program for specialty training of
physicians, and was the first to bring medical students out of the
lecture hall for bedside clinical training.However, a more 'nominal'
contribution he made to the world of medicine was a consequence
of the first ward at Johns Hopkins being octagonal, with beds in
sequence around a central pillar. What was this?
1

8. Rounds

9. Q4. A 30-year-old woman has had gradually increasing muscle weakness with myalgia for
the past year. She now has difficulty getting up from a chair and climbing stairs. She doesn't
have weakness of her hand muscles. Physical examination reveals a fine violaceous rash on
her face, predominantly palpebral. Dusky, flat, red patches are present on her elbows, knees,
and knuckles. Laboratory studies show serum creatine kinase of 620 U/L. A deltoid biopsy
specimen is obtained, and on microscopic examination shows a mononuclear inflammatory
cell infiltrate around small blood vessels and groups of atrophic myofibers at the periphery of
fascicles. What is your diagnosis?
1 mark

10. Dermatomyositis

11. Q5*. A 45 year old Caucasian female presents to you with complaints of pain, swelling and
stiffness in the wrist, proximal interphalangeal and distal interphalangeal joints on both sides and
associated reduced grip strength. She describes the stiffness to be worse in the early morning
hours which improves on repeated motion of the joint. She also gives history of dragging
sensation in the abdomen, early satiety, weight loss and anorexia, all approximately for a year.
She also complains of recurrent lower respiratory tract infections and abscesses over the past
few months. On examination, you see multiple subcutaneous nodules on the forearms, sacral
prominences and over the Achilles tendon. There is hyperextension of her proximal
interphalangeal joints and flexion of her distal interphalangeal joints. Abdominal palpation reveals
a palpable spleen tip. Her blood investigations are significant for anemia and neutropenia. What
is your diagnosis?
1 mark

12. Felty’s syndrome

13. Q6. A 54 year old man presents with watery diarrhea for two months. The diarrhea is
mainly nocturnal and unrelated to food intake. It does not abate with fasting. The stools
are odorless, and without blood or mucous. There is no significant weight loss. There is
no history of abdominal pain. Over the last month, he has sought medical attention from
several primary care practitioners. He was, separately, prescribed a course of
loperamide and a course of Metronidazole, both of which were without effect. His
medical, surgical, and family histories are unremarkable. He denies any history of
allergies, recent travel to tropical areas, food intoxication, laxative abuse, or use of over
the counter drugs or herbal medications. He is found to be mildly dehydrated, but with
stable vitals. A complete blood count, renal functions, and liver profile are normal.
Fasting blood sugar levels are high. An electrolyte assay is significant for
hypokalemia(2.6 mEq/L) and hypercalcemia, while an arterial blood gas analysis shows
non-anion gap metabolic acidosis(pH: 7.15, bicarbonate: 6.4 mmol/L). He is stabilised
and resuscitated appropriately. Follow up investigations show a serum TSH of 1.5
mIU/L(normal: 0.4-4); no leukocytes, bacteria, viruses, fungi, or parasites on stool
analysis; and a fecal osmotic gap of 15 mmol/L(normal: 50-100). Colonoscopy reveals
no gross abnormalities. Serum calcitonin levels are within normal limits. Basal and
maximum gastric acid outputs are reduced. CT scan shown:

14. What is your diagnosis? 1 mark

15. WDHA syndrome(VIPoma)

16. 1. Measles
2. Scarlet fever
3. Rubella
4. Filatov-Duke's disease(now removed)
5. ______
6. ______
Q8.
1+1=2 marks

17. 5. Erythema infectiosum
6. Exanthema subitum

18. Q9. Wilkie's syndrome, also known as X syndrome, refers to obstruction
of the third part of the duodenum between the arteries X and Y. The most
common causes of X syndrome are severe weight loss including trauma,
burns, chemotherapy, anorexia nervosa and/or after prolonged bed rest
causing a massive and rapid reduction in the thickness of adipose tissue
of the space between X and Y which is normally supposed to keep the
space open and protects the duodenum from vascular compression. Z is
a disease with a similar pathogenetic mechanism, occuring due to
compression of the renal vein between X and Y. What are X, Y and Z?
1+1+1=3 marks

19. X is superior mesenteric artery
Y is aorta
Z is nutcracker syndrome

20. Q10. A 45 year old man presents with chief complaints of diplopia and
ataxia. On examination, patient is confused. There are no other
complaints. Examination of the eyes reveals ophthalmoplegia. Patient is
an alcoholic since 25 years. On doing MRI, hyperintensity or brightness is
seen on the T2-weighted image in the bilateral medial thalami and the
periaqueductal region.
1) What is your diagnosis?
2) What is the management?
1+1=2 marks

21. Wernicke’s encephalopathy
Treatment is thiamine(vitamin B1)

22. Q11. A 25-year-old woman presents with a complaint of painful mouth ulcerations.
She describes these lesions as shallow ulcers that last for 1 or 2 weeks. The
ulcers havebeen appearing for the last 6 months. For the last 2 days, the patient
has had a painful red eye. She has had no genital ulcerations, arthritis, skin
rashes, or photosensitivity. On physical examination, the patient appears well
developed and in no distress. She has a temperature of 37.6°C(99.7°F), heart
rate of 86 bpm, blood pressure of 126/72 mmHg, and respiratory rate of 16
breaths/min. Examination of the oral mucosa reveals two shallow ulcers with a
yellow base on the buccal mucosa. The ophthalmologic examination is consistent
with anterior uveitis. The cardiopulmonary examination is normal. She has no
arthritis, but medially on the right thigh, there is a palpable cord in the saphenous
vein. Laboratory studies reveal an erythrocyte sedimentation rate of 68 seconds.
WBC count is 10,230/uL with a differential of 68% polymorphonuclear cells, 28%
lymphocytes, and 4% monocytes. The antinuclear antibody and anti-dsDNA
antibody are negative. C3 is 89 mg/dL, and C4 is 24 mg/dL. What is the most
likely diagnosis?
1 mark

23. Behcet’s disease

24. Q12. A 34-year-old man, presented with a 6-week history of unsteady gait
associated with a 4-month history of nausea and vomiting. He also reported
having midline suboccipital headaches starting 6 months ago. The patient
was diagnosed with a subcortical angioblastoma arising from the right
cerebellar hemisphere. The patient underwent a cerebellar exploration.
Postoperatively, the patient described abdominal discomfort and vomited a
bile-stained fluid. During the evening, the patient had more severe cramp-
like pain in the stomach with a rectal temperature of 102.4. the patient was
cyanotic, breathing very rapidly, and had a feeble pulse. X-ray and barium
swallow showed no abnormalities. An upper gastrointestinal endoscopy
clinched the diagnosis. What is the most probable cause of the abdominal
symptoms?
1 mark

25. Cushing ulcer

26. Q13. A 47-year-old man is evaluated in the emergency department for
chest pain that developed at a restaurant after swallowing a piece of
steak. He reports intermittent episodes of meat getting stuck in his lower
chest over the past 3 years, but none as severe as this event. He denies
food regurgitation outside of these episodes or heartburn symptoms. He
is able to swallow liquids without difficulty and has not had any weight
loss. Barium swallow and endoscopy of esophagus is shown. What is the
most likely diagnosis?

27. 1 mark

28. Schatzki ring

29. 1.Castleman's disease
2.Malignant hypertension
3.Sclerosing cholangitis
4. Ewing sarcoma
5.Gastric inflammatory polyps
Q14. What is common among these diseases?
1 mark

30. Onion skinning

31. Q15. A 22-year-old woman presents to the emergency department for abdominal
pain that she rates a 10 out of 10 in severity, Her current episode began about 5
hours ago. She describes it as diffuse and constant with a mild crampy quality.
She has mild nausea and has vomited once. She feels that her abdomen is
distended. Over the past 6 years, she has presented to the emergency
department five times with similar symptoms. Her symptoms have always
resolved without intervention or hospitalization within 24-48 hours. When she has
pain, she has significant anxiety and insomnia. She has had two episodes of
auditory hallucinations during an acute pain attack, which she attributed to the
severity of the pain. She stopped taking oral contraceptives due to her perception
that it caused her episodes of abdominal pain to worsen. Her mother has had a
few mild episodes of similar abdominal pain. On examination, she is tachypneic.
She appears in mild distress due to pain. Cardiovascular exam shows only a
regular tachycardia Abdominal examination shows hypoactive bowel sounds with
mild distention. A urinalysis and toxicology screen is negative. Her complete blood
count is normal. What is the diagnosis? 1 mark

32. Acute intermittent porphyria

33. Q16. A 24-year-old woman seeks evaluation for a rash that is
present diffusely on her back, buttocks, elbows, and knees. The
rash began abruptly, and the patient is complaining of severe
pruritus and burning associated with the rash. A biopsy of the rash
demonstrates neutrophilic infiltrate within the dermal papillae, and
immunofluorescence highlights granular deposition of IgA in the
papillary dermis and along the epidermal basement membrane
zone. The patient is a known case of celiac disease. What is the
diagnosis and drug of choice?
1+1=2
mark

34. Dermatitis herpetiformis and dapsone.

35. Q17. A 51 year old woman with diabetic nephropathy receives a renal
allograft. An episode of acute cellular rejection requires an increase in
immunosuppressive therapy. She develops dysuria. On examination, she
has suprapubic pain on palpation. A urinalysis shows hematuria. A cut
section of the urinary bladder is shown. The lesions are biopsied and
stained with PAS stain.
1. What is your diagnosis?
2. What is the typical finding on histopathology(black arrow)?*
1+1=2 marks

37. Malakoplakia and Michaelis Gutmann bodies.

38. Q18. A 31 year old white woman is evaluated for symptoms of blurred vision and
weakness. She is not really sure how long the symptoms have been occurring. She
has had intermittent blurring of her vision for the past 2 months, although it has been
more persistent for the past 2 weeks. She states that she also notes that colours
seem less vivid and that her symptoms are worse in the right eye. Three months ago,
she did notice some sharp pains in the right eye. They subsided after about a week,
and since then, her vision has worsened. At the same time, she feels as though she
is stiff in her legs and also feels that her left leg is weak. She sometimes feels as if
her left leg will give out on her if she stands on it for a prolonged period. Her past
medical history is significant for type 1 diabetes mellitus for which she uses an insulin
pump. She has smoked one pack of cigarettes daily since the age of 18. On physical
examination, there is spasticity in both of her lower extremities with passive motion.
Deep tendon reflexes are 3+ bilaterally with strength at the quadriceps on the right at
4/5. All other strength in the lower extremity is 5/5 bilaterally. Sensation to light touch
and pinprick is decreased in the lower extremities. A dilated fundoscopic examination
shows swelling of the optic disc. What is your diagnosis?

39. Multiple Sclerosis

40. Q19*. The patient in the previous question received a drug X after which her
symptoms improved. One year later, she develops neurologic deficits with
ataxia, motor weakness in the right arm, difficulty swallowing, and sensory
changes in the left leg. MRI of the brain shows irregular areas of increased
attenuation in white matter of the cerebral hemispheres and the cerebellum.
A stereotaxic biopsy specimen shows perivascular chronic inflammation,
marked gliosis, large reactive astrocytes with bizarre nuclei, and
intranuclear inclusions within oligodendroglial cells. Name the drug X.
1 mark

42. Natalizumab

43. Q20. A 29-year-old female presented with one-day history of diarrhea,
nausea, vomiting, right side abdominal pain, and abdominal distention.
The pain was constant, gradually increasing in severity, and not related
to food intake. The patient reports pain in lower abdomen for the past 6
weeks. Abdominal examination revealed tenderness in the right upper
abdomen and lower central abdomen. Vaginal examination revealed
cervical motiom tenderness and uterine tenderness. CBC revealed
leukocytosis (16000/uL). Chest and abdominal radiographs appeared
normal. Laparoscopy of the upper abdomen revealed the following
finding. Diagnosis?
1 mark

45. Fitz Hugh Curtis Syndrome

46. Q21.* 1 mark

47. Fabry’s disease
Angiokeratomas
X linked inheritance
Restrictive cardiomyopathy
Sensory neuropathy

48. Q22. A 54-year-old woman presents acutely with alterations in mental status and fever. She was
well until 4 days previously when she began to develop complaints of myalgia and fever. Her
symptoms progressed rapidly, and today her husband noted her to be lethargic and unresponsive
when he awakened. She has recently felt well otherwise. Her only current medication is atenolol
25 mg daily for hypertension. On physical examination, she is responsive only to sternal rub and
does not vocalize. Her vital signs are as follows: blood pressure 165/92 mmHg, heart rate114
bpm, temperature 38.7°C (101.7°F), respiratory rate is 26 breaths/min, and oxygen saturation
92% on room air. Her cardiac examination shows a regular tachycardia. Her lungs have bibasilar
crackles. The abdominal examination is unremarkable. No hepatosplenomegaly is present. There
are petechiae on the lower extremities. Her CBC shows haemoglobin of 8.8 g/dL, hematocrit of
26.4%, WBC count of 10.2/uL (89% polymorphonuclear cells, 10% lymphocytes, 1% monocytes),
and a platelet count of 54,000/uL. A peripheral blood smear is shows schistocytes. Her basic
metabolic panel shows a sodium of 137 mEq/L, potassium of 5.4 mEq/L, chloride of 98 mEq/L,
bicarbonate of 18 mEq/L, BUN of 89 mg/dL, and creatinine of 2.9 mg/dL. Her coagulation profile
is normal. Diagnosis?
1 mark

49. TTP

50. Q23. 1 mark

51. Adenocarcinoma lung
Ptosis
Clubbing
Trousseau Syndrome
Ceritinib

52. Q24. A 20-year-old woman with learning difficulties had flank pain for 1 week.
Physical examination showed right costovertebral angle tenderness. Patches of
leathery-appearing and hypopigmented skin were scattered over her body. There
was a subungual nodule on her right index finger. Abdominal CT scan showed
bilateral renal cysts and tumor masses. MRI of the brain showed subependymal
nodules and 1- to 4-cm cortical foci with lossof the gray-white distinction. CT scan
of the chest showed a3-cm mass involving the interventricular septum. Two years
later, she now has sudden, severe headache. MRI now shows nodule obstructing
the cerebral aqueduct. Neurosurgery is performed, and a subependymal giant cell
astrocytoma is removed.
1)What is the most likely diagnosis?
2) Which type of renal tumours do these patients develop?
1+1=2 marks

53. Tuberous sclerosis
Renal angiomyolipomas