Junior Medillectuals held in Synapse 2018, Maulana Azad Medical College.

1. JUNIOR MEDILLECTUALS
AVANT GARDE 2018

4. 1.
An Irish surgeon, J. Calvin Coffey, has discovered the
79th organ in the digestive system of the human
body which has discredited centuries-old beliefs and
could lead to breakthroughs in digestive medicine.
His research paper was published at a medical
journal The Lancet Gastroenterology and Hepatology
back in November.
This however, seems to be a rediscovery of a lost fact.
In 1508, Leonardo da Vinci had also discovered the
organ, but the fact had been ignored and the organ
was considered to be fragmented until recently.
ID the organ.

5. • Mesentery

6. 2.
• X is a normal anatomical variant seen in about 5% of
the patients and is detected during ultrasonography
or other contrast studies of the gall bladder. Caused
by a fold in the gallbladder where the fundus joins
the body, it is named after it's resemblance to
something associated with the inhabitants of a
central Anatolian region and later the French
revolution.
• What is X?

7. • Phrygian Cap

8. 3.
• A 25 year old male was treated with an antibiotic for a urinary
tract infection. A few days later he comes to the clinic for a
follow up visit. He explains that his urinary symptoms from
the infection have mostly resolved, however he now has dark
appearing urine. His past medical history is unremarkable, and
he does not use any tobacco or alcohol. His temperature is
98.4°F, pulse is 85/min, respirations are 15/min, and blood
pressure is 125/75 mm Hg. A physical exam is within normal
limits. The patients urine sample stains positive with Prussian
blue and a urine sediment is unremarkable.
What is the likely cause of dark coloured urine in this patient?

9. • G6PD deficiency
Hemolysis following sulfa drug use
(Cotrimoxazole for UTI)

10. 4*.

11. • Watershed areas

12. 5. A 19-year-old man presents to the physician, because he is experiencing
difficulty swallowing and speaking. His symptoms have evolved from a 2-
week period of a sore throat, fever, and cervical lymphadenopathy. Since
yesterday, he has been experiencing difficulty swallowing and speaking
because of the pain in his throat. On examination, his tonsils are grossly
swollen and he is slightly drooling. There is bilateral, tender cervical
lymphadenopathy. The spleen is palpable 1.5 cm below the costal margin. A
blood film is as shown below:
A week later, the condition
improved with supportive
management.
ID the cells in the smear
and the reason behind
their name.

13. • Infectious mononucleosis
Atypical lymphocytes (CD8+ T cells (EBV
specific) and CD16+ NK cells)

14. 6.
• Kallmann syndrome is a condition
characterized by delayed or absent puberty
and an impaired sense of smell. This disorder
is a form of hypogonadotropic hypogonadism.
• What is the embryological basis of these two
features?

15. • The GnRH neurons are present along with the
olfactory neurons in the nasal cavity, from
where they migrate to the hypothalamus and
olfactory bulb respectively.
• This migration is defective in Kallmann
syndrome

16. 7.
• A- Name the 6th layer of the cornea and it’s
location (discovered by Harminder Singh and his
team in 2013)
• B- Give the possible function of the layer.

17. • Dua's layer
• Pre-descemet-between stroma and descemet
membrane
• Function- Provides strength to the descemet
membrane and improves the outcome of
corneal surgery

18. 8.
• “That part of the image which others call red, appears to me little
more than a shade or defect of light; after that, the orange, yellow
and green seem one colour, which descends pretty uniformly from an
intense to a rare yellow, making what I should call different shades of
yellow”
• These famous lines were said by X, who was one of the first
scientists to document colour blindness. He donated his eyes for
research which disproved his own theory of colour blindness.
• In his honour, the phenomenon of red-green colour blindness has
been named as Y.
• What are X & Y?

19. • X- John Dalton
• Y- Daltonism

20. 9. Paolo, 34 year old man presented to the ER with
intractable vomiting and dehydration. After resuscitation,
a complete medical history was obtained which was
significant for consumption of a pasta dish a couple hours
ago. He stated that he’d taken delivery from a nearby
restaurant in the morning and assured them that he’d
refrigerated and then properly heated it again before
eating.
• The restaurant denied any claims of infectious carriers at
their place and refused further comments.
• ID the most likely responsible agent.

21. • Cereulide produced by Bacillus cereus

22. 10. ID

23. • Phenotypic mixing

24. 11*.
• Give 2 reasons each for the difference between A & B
and B & C. (pO2)
Systemic circulation

25. • A & B - CO2 and water vapour (mixed with
dead space)
• B&C - Bronchial veins and Cardiac veins mix
deoxygenated blood

26. 12.
• ID the pathology.
• Name the
characteristic
antibody found in
this condition.

27. • Drug induced lupus
• Anti histone antibodies

28. 13.
• Hypercalcemia of malignancy is a
phenomenon produced by both local and
metastatic tumors. The mediators however,
which produce this effect are separate in both
cases.
ID both.

29. • Local: PGE2, IL-6/3
Metastatic: PTHrp

30. 14*. CONNECT
• Carbamazepine
• SSRIs
• Small cell carcinoma lung
• Cyclophosphamide

31. • SIADH

32. 15.
• Identify and give the basis for such a reading
on the ECG.

33. • Torsades des pointes
• Qt prolongation and polymorphic ventricular
tachycardia - delayed repolarization and early
after depolarization along with reentry
phenomena

34. 16.
• Why fracture first rib compressing distal
subclavian artery Or 1st and 2nd part of axillary
artery compression in anterior dislocation of
humerus do NOT cause upper limb ischemia?

35. • Scapular anastomosis

36. 17*.
• X is an extremely potent vasoconstrictor and one of the
locally produced factors responsible for autoregulation in
the CVS.
• Attempts at blocking X to relieve hypertension were
unequivocal, but in pregnant women, it lead to births of
fetuses with aganglionic colons and facial abnormalities.
ID X and the receptor responsible for it’s second action.

37. • Endothelin
ET-B

38. 18. IDENTIFY.
(BE VERY
SPECIFIC IN YOUR
ANSWER)

39. MAXAM AND GILBERT SEQUENCING

40. 19*.
• A, B and C are three pregnant women diagnosed
with IDDM. While both A and B used to receive
animal insulin before pregnancy, A continued with it
throughout her pregnancy while B discontinued it
after the first trimester. C stuck with recombinant
insulin.
Considering all other factors to have had minimal
effect, theoretically speaking, the order of birth
weights of their babies would be:
• 1) A>B>C
• 2) A=B>C
• 3) B>A>C
• 4) A=B=C

41. • 1) A>B>C
• While no longer in use nowadays, earlier animal insulin was a
popular treatment for all patients of Type 1 DM. Most patients
developed antibodies against them and interestingly, it was found
that the antibody bound complexes were shielded from the
placental proteases that cause insulin destruction. Hence, this
bound insulin could cross the placenta while free insulin was
destroyed by the proteases; which is the main barrier to the entry
of insulin into the fetal circulation (not size). Thus, in A and B,
insulin was able to reach the fetal circulation and cause
macrosomia.
Furthermore, the concentration of antibodies is dorect;y
proportional to the duration of exposure to the animal insulin.

42. 20.
• A 17 year old male was quarantined by the local
village authorities, with this picture. The boy’s
additional complaints of foot drop, tiredness
and constipation were paid no heed to. Weird,
huh?
Dx? Reason for
quarantine?

43. • Raindrop pigmentation in chronic arsenic
poisoning (resembles fading measles rash)

44. 21.
• Metaphyseal damage in Gaucher’s disease is
mainly due to insult to which zone?
A) Resting zone
B) Proliferative zone
C) Hypertrophic zone
D) Calcification zone

45. • A) Resting zone

46. 22. CONNECT

47. • Second pharyngeal arch

48. 23. CONNECT.

49. • Menke’s disease

50. 24*.
• In case you choose to transfuse blood to a
hypoxic patient, which medium based stored
blood would you prefer to use? Why?
A) Citrate-phosphate-dextrose solution
B) Acid-citrate-dextrose

51. • Citrate-phosphate-dextrose solution
Causes comparatively less loss of 2,3 DPG
from the RBCs, allowing more oxygen delivery
to tissues by displacing it from hemoglobin

52. 25.
A 10 year old girl was seen by a Neurologist because of the
gradual development of involuntary movements. To begin with
the movements were regarded by her parents as General
restlessness, but later, abnormal facial grimacing and jerking
movements of the arms and legs began to occur. this child was
now having difficulty in performing normal movements of the
arms and walking was becoming increasingly difficult. the
abnormal movements appear to be worse in upper Limbs and
were more exaggerated on the right side of the body. the
movements were made worse when the child became excited
but disappeared when completely when she slept. Past history is
significant for several episodes of sore throat but no perinatal
injury or hypoxia.
What is the probable diagnosis and chances of recovery after
proper treatment?

53. • Sydenham Chorea following RHD
Complete recovery is the rule

56. RULES
• DIRECT: +10/0
• BOUNCE: +5/0
• POUNCE: +15/-5
• SELF POUNCE

57. 1. A 3 year old child presented to the pediatric OPD with complaints of
delayed motor development. The mother reported that the child has
always been particularly aggressive, like his elder brother. Physical
examination revealed:
• A) Underlying defect?
• B) Mode of inheritence

58. • Self mutilation and orange crystals in diaper
• Lesch Nyhan syndrome
• X linked recessive disorder

59. 2. An 82 year old Caucasian woman developed an intractable diarrhoea
after co-amoxiclav therapy for a urinary tract infection. She was
treated with another oral antibiotic
Within a few hours, she developed a widespread erythematous rash
over the entire body which was accompanied by pruritus. The BP
dropped to 89/60 mm Hg within a few minutes. The patient was
immediately started on IV fluids and diphenhydramine, which lead to
resolution of the rash.
ID the phenomena and explain the mechanism.

60. • Red man syndrome sue to vancomycin; can occur with oral
dose in case there is a mucosal disease of the GI tract.
IgE independent mast cell degranulation due to interaction
of vancomycin with a GPCR on mast cell surface.

61. 3.
• A 10 year old child had accidentally swallowed a small
marble, following which he experienced coughing, but
the marble did not come out. There was no problem
with speech, breathing or any GI disturbances.
After a few days the parents noticed that the child had
been swallowing more marbles without them noticing.
What was the fate of the marble and why did the latter
occur?

62. • Lodgement of marble in the piriform fossa
leading onto anesthesia of the internal
laryngeal nerve.

63. Upon examination of mammary epithelial cell lines in suspension, Overholtzer et al. noticed the
presence of cells within other cells. Further investigation of this phenomenon revealed that
detachment of mammary epithelial cells from the ECM initiates a new pathway of non-apoptotic
cell death in which one cell invades into another. This process requires the formation of
adherens junctions in the absence of integrin signaling and force-driven invasion of one cell into
another cell. It is thus not a phagocytic process but requires force generation from the
actin/myosin cytoskeleton. Remarkably, viability of the internalized cells is sustained in the short
term, and a fraction of the internalized cells can either extricate themselves or are expelled from
the host cell. The predominant fate of the internalized cells is, however, lysosome-mediated
degradation and non-apoptotic cell death. Surprisingly, lysosome-mediated degradation of
internalized cells does not appear to use the autophagy pathway. A key question is whether this
is another mechanism to eliminate cells that detach from the ECM in vivo.
This was defined by Humble et al., as “The active penetration of one cell by another which
remains intact.” It differs from phagocytosis in that an engulfed cell exists temporarily
within another cell and with an intact normal structure while in phagocytosis, the engulfed
cell is destroyed by the protective action of lysosomal enzymes. The cells are mainly
histiocytes and megakaryocytes but can also be seen in association with tumour cells and
Reed Sternberg cells. Lymphocytes both in the physiological and pathological conditions
have been involved.
4. ID the phenomena

64. • Entosis
• Emperipolesis

65. 5. NAME THE STRUCTURE
• First discovered in 1870 in sharks and other types of fish, it was initially
referred to as the nerve of pinkus. In 1905, in other animal species, it was
observed to extend into the region of the lamina terminalis (delineating
the anterior wall of the third ventricle and, in its lower section, before the
optic chiasma, forming the optic recess.
• It passes through the medial region of the stria olfactoria (ie, medial in
relation to the anterior perforated space) and, via the rectus gyrus of the
orbital surface of the frontal lobe, reaches the crista galli laterally. Finally,
it passes through the cribriform plate of the ethmoid bone more medially
and deeply than do the tracts of the olfactory nerve.
• Although first formally mentioned in a paper on human anatomy in 1945,it
has rarely been mentioned in the medical literature since. The probable
reason for this is that, during anatomical dissection, when taking off the
dura mater, this nerve is torn off and cannot be found on subsequent
examination. However, as long as the pia mater remains intact, the nerve
can be located between the olfactory stalk and the rostral section of the
optic chiasma.

66. • CN 0/13 or Nervus terminalis

67. 6.
• This is a type of severe reaction that occurs to particular medications used
during general anesthesia, among those who are susceptible. Symptoms
include muscle rigidity, high fever, and a fast heart rate. Complications can
include rhabdomyolysis and high blood potassium. Most people who are
susceptible are generally otherwise normal when not exposed.
• The inheritance is autosomal dominant with variable penetrance. The defect is
typically located on the long arm of chromosome 19 .
1. Which other disease is associated with the mutation of the
above receptor?
2. Detail the defect in this disease.

68. • 1. Central core disease
• 2. Absence of mitochondria in the central area of the
muscle fibres, causing affected infants to appear
"floppy" and can delay the development of motor
skills such as sitting, standing, and walking. In severe
cases, affected infants experience profoundly weak
muscle tone (hypotonia).

69. • AUDIENCE Q:In modern textbooks, it is
referred to as the nervus intermedius or
“intermediary nerve”. Its name is consistent
with its intermediary location between the
facial nerve (cranial nerve VII) and the superior
section of the vestibulocochlear nerve (cranial
nerve VIII). It is well known to cause otalgia and
related surgical operations

70. • Cranial nerve 14

71. CONNECT

72. RULES
• DIRECT: +20/0
• BOUNCE: +10/0
• POUNCE: +25/-10
• SELF POUNCE

73. 1.

74. • Membranous Nephropathy
carcinoma colon, Hashimoto thyroiditis,
Rheumatoid arthiritis, Captopril, Schistosoma

75. 2.

76. • Mitochondrial disorders
Florid duct lesions: Primary Biliary Cirrhosis
(anti mitochondrial antibodies)
Ragged Red fibres (MERRF/MELAS)
Pedigree of mitochondrial inheritance

77. • +(beta blocker)
3.

78. • MEN2B syndrome
Amyloidosis (Medullary thyroid carcinoma)
Pathological fracture (Parathyroid adenoma)
Vasomotor re-reversal (alpha+beta blockers
used in therapy of phaeochromocytoma)

79. 4. CONNECT

80. • Chronic cocaine poisoning
Saddle (nose), Bruxism, Skin excoriation due
to Magnus phenomena, Snow, Dilated CM

81. 5. CONNECT

82. • Lugol’s iodine
Amyloidosis (staining of amyloid)
Hyperpthyroidism (treatment)
Carcinoma cervix (screening)
Gram staining (stain)

83. 6. CONNECT

84. • Bainbridge reflex
Sherlock (guard named Bainbridge)
Stretch receptors in atria
Atrium
Sinus Tachycardia in response to atrial stretch

85. AUDIENCE

87. • Crohn’s disease
Anti- (sacchromyceal) antibodies
Stab (ulcer)
Uveitis
Gas under diaphragm (perforation is common)
Creeping (fat)/serpentine ulcer
(Skip) lesions

89. RULES
• DIRECT: +10/0
• POUNCE: +15/-5
• SELF POUNCE

90. Head and neck
Thorax
Abdomen
Limbs
MILIEU
INTERIOR
Pelvis

91. #HnN: 1.
• Infertility or reduced fertility, is a common
finding in patients with subclinical
hypothyroidism. Which of these approaches is
the best management for this condition?
A)correction of prolactin levels
B) correction of TRH
C) Both A and B
D) Thyroxine inhibitors

92. • Correction of TRH

93. • The line of Gennari (also called the
"band“ of Gennari) is a band of
myelinated axons. This formation is
visible to the naked eye as a white strip
running through, and is the reason for
the naming of a certain body part. The
structure is named for its
discoverer, Francesco Gennari, who first
observed it in 1776 as a medical student
at the University of Parma. He described
it in a book which he published six years
later.
• Which body part is being talked of here,
and what is its other name?
• What is the “Line of Gennari” also
known as?
#HnN: 2.
BACK

94. • Visual cortex or striate cortex
• Band of Baillarger

95. LIMBS: 1
• Name the newly discovered component of the
quadriceps muscles.

96. • Tensor vastus intermedius

97. BACK

98. • CREST syndrome
(Calcinosis cutis, Raynaud’s, Esophageal
dysmotility, sclerodactyly, and telangiectasia)

99. THORAX: 1
• 74-year-old female presenting with dyspnea
on exertion, and facial and upper extremity
swelling.
She additionally complained of fatigue and
decreased exercise tolerance, facial and
proximal muscle weakness with difficulty
lifting her arms above her head and difficulty
climbing stairs.
Physical examination revealed mild facial
swelling with ptosis, non-pitting edema
involving the upper extremities and
distention of superficial veins of the anterior
chest wall and jugular veins.
• Dx? Reasons for symptoms and findings?

100. • Thymoma (mediastinal widening on CXR)
Myasthenia Gravis and SVC syndrome

101. THORAX: 2
• In a part of the lung, the blood from the pulmonary
arteries and capillaries "falls" into the pulmonary
venules and vein in a pulsatile manner, which are
compliant and take whatever amount of blood flows
into them. This phenomenon is known as 'Starling
Resistor' or X.
• 1. What is X?
• 2. Which zone of the lung does this occur in?
BACK

102. • X- Waterfall effect
• Middle zone of the lung/ Zone 2
• Art pressure> Alveolar P> Venous pressure

103. ABDOMEN: 1
• While chronic elevated levels of aldosterone
secondary to Cushing’s syndrome cause sodium
and water retention in large amounts, over time
this effect diminshes leading to normalisation of
ion levels.
Name the responsible mediator.

104. • ANP

105. ABDOMEN: 2
• Persistent hyperinsulinemic hypoglycemia of
infancy, as the name suggests is characterised
by high insulin levels despite hypoglycemia.
• Locate the defect in the pathway (lies at the
cellular level). Name a drug that is used for the
treatment of this condition.
BACK

106. • Mutation of the gene encoding the potassium
channel in beta cells
Diazoxide

107. PELVIS: 1
• A 24 year old female was involved in a RTA. An X-Ray
revealed a fracture of the pelvis involving the pubic rami
and acetabulum. Despite attempts at resuscitation, she
bled into her pelvis and died within a few hours.
• Catch the rogue vessel and explain it’s existence.
HINT: last seen during the death of a patient undergoing lap
inguinal hernia repair and another with an anterior
approach to femur fracture.

108. • Aberrant obturator artery

109. PELVIS: 2
What changes occur in potassium excretion with
• Acute acidosis
• Chronic acidosis?
What are the mechanisms behind the same?
BACK

110. • Acute acidosis: H+ ions inhibits the Na+/K+
transporter and thus prevents secretion of K+
and thus causes hyperkalemia.
• Chronic acidosis: causes hypokalemia as
decreased Na reabsorption in proximal tubule,
causes increased flow in the distal tubule, which
causes increased Na absorption and K+
secretion, overcoming the previous mentioned
effect.

111. MILIEU INTERIOR: 1
• List the diseases for which Diabetes Mellitus type 2 is
NOT a risk factor:
• Atherosclerosis
• Lower limb gangrene
• MI
• Berry’s aneurysm
• Alzheimer’s disease
• CJD
• Abdominal aortic aneurysm

112. • Berry’s aneurysm
CJD

113. Identify the life threatening
complication associated with a high
carb diet in this patient
BACK

114. • Lactic acidosis (due to decreased PDH complex
activity following thiamine deficiency)
*Disorder is Korsakoff Psychosis with (classical
confabulism)!

115. AUDIENCE Q
• Jeffrey Hall, Michael Rosbach and Michael
Young were awarded the noble prize in
Physiology and Medicine for elucidating the
pathway of circadian rhythm.
Name the 3 genes involved in the pathway.

116. • PERIOD
• TIMELESS
• DOUBLETIME

118. 1. When Mrs. Jones bought home her favourite camembert
cheese home like always, she put it in her nice little fridge. Little
did she know that the cheese wasn’t alone!
Old Mr. Jones keeps having this slight tummy ache every now
and then, but who doesn’t?
Mrs. Jones lost her last child much too soon and little Sam Jones
almost got through with the neck rigidity too, but damn those
penicillins!
Not too soon though! My actin never fails me; and thus, those
antibodies do not stand a chance against me....
Explain every reference used

119. Listeria monocytogenes
• Cheese contamination despite refrigeration
• Mild GI upset in adults
• Recurrent abortions in females
• Neonatal meningitis
• DOC= Pencillins
• Virulence factor= actin producing tumbling
motility enabling escape from immune system

120. 2. CONNECT and EXPLAIN
• Wilson’s disease
• Reperfusion injury
• Acetaminophen poisoning
• Isoniazid
Countered by: Staphyloxanthin

121. • Free radical injury

122. • In a family, the wife is a known carrier of an
autosomal recessive disease. The status of the
husband is unknown, however he does not
suffer from the disease. (the disease being such
that manifests early in life)
Given that the frequency of the disease is 1 in
40000 in the general population, what is the
probability of their child having the same
disease?
3.

123. by hardy Weinberg- p +q =1
p2 +q2 +2pq = 1
p = frequency of AA
q= frequency of aa
2pq= frequency of Aa
For Father having genetic makeup AA no offspring will be diseased
and for Aa one fourth will be affected.
Probability of husband being Aa = 2pq
q2 = 1/40000
q = 1/200 thus p = 199/200
thus 2pq = 1 x 1/200 x 199/200
= approx 1/100
thus probability of diseased offspring = 2pq x ¼ = 1/400

124. 1.IDENTIFY AND EXPLAIN THE PATHOLOGICAL PROCESS.
2. WHAT SPECIFIC INVESTIGATIONS WOULD YOU DO TO SEAL THE DIAGNOSIS?
• A 18 month old male toddler presented with delayed walking and lower limb deformity. Patient
was referred to endocrine outpatient clinic. Parents consulted primary health care doctor 13
month of age due to delayed walking in comparison to other sibling and observed lower limb
deformity . Oral cholicalciferol 4000 IU once daily was started. During follow up no noticed
improvement in spite of good compliance. There was no history of convulsion, renal or hepatic
disease, or similar condition in the family. He was a product of term pregnancy and delivered by
normal spontaneous vaginal delivery. There was no consanguinity between parents.
• Vaccination was up to date. Developmental parameters were appropriate for age as regard to
social, vision, speech and hearing but delayed in gross motor. He was on formula milk and family
diet with average appetite.
• On examination not dysmorphic, weight, height, and head circumference were at 25, 10 and 25
percentile respectively. Anterior fontanel was closed and there was frontal bossing. There was no
hepatosplenomegaly, no skin changes. Child had normal muscle tone and power. The child could
walk but had waddling type of gait. Musculoskeletal examination revealed widening of the wrist
joints and there was significant bowing of the legs.
• Investigations showed: Hemoglobin 12.3 g dl, white blood cell (WBC) 10.9 × 103/μL, neutrophil
21% and lymphocyte 57%. Serum urea and electrolytes were normal. Liver function tests were
normal. Bone profile; serum Ca 2.4 (normal 2.1–2.5) mmol/L, serum phosphorus 0.6 (normal 0.8–
1.5) mmol/L, Serum alkaline phosphatase 1050 (normal 50–136) Unit/LMg 0.8 (normal 0.7–1.03)
mmol/L. Serum Parathyroid hormone level 6.4 (normal 1.59–6.89) pmol/L, serum 25 OH vitamin D
214 nmol/L (normal 50–250) and serum1,25 (OH)2 vitamin D 68 (normal 38–133) pmol/L. Arterial
blood gas was normal, and there was normal anion gap. Celiac disease profile was negative.
4.

125. • Hypophosphatemic rickets
• X linked recessive disorder, causes PHEX
mutation, which causes overactivity of FGF-23
which inhibits phosphate reabsorption, thus
causing hypophosphatemia, which decreased
bone mineralisation.Ca values are typically
normal, but ALP is raised.
• Specific investigation: PHEX gene assay

126. 5.
• In the vast dictionary of ion channels, X is the
only one to use ATP hydrolysis, yet carry out
passive transport of the chloride ion.
• In case one were to create a mutant X with loss
of the ATP binding sites, how would the
function be affected, if at all?

127. • CFTR
function not affected; active transport only
helps in initial rapid transport of chloride ions

128. • A,F
• X __B__>
increase X, 2x;
•
• C
• D
• E
• J
ID the series (A-J)

129. • Interleukins (A=1, B=2 and so on)

131. 1.
• A 15 year old boy, born of non consanguineous marriage, 2nd
child of his parents, symptomatic since last 4 months, presented
with complaints of fever with chills on and off and bilateral
inguinal and axillary lymphadenopathy. He had no significant
past or family history. On admission patient was febrile (39 C)
with a pulse of 110/min, BP-110/70, oral cavity showed
mucositis and lip excoriation (Figure 3). Patient had pallor,
icterus, bilateral axillary, inguinal, sub mental, sub mandibular
nontender lymphadenopathy, peripheral cyanosis (Figure 1) and
blanchable rash all over the body. Per abdominal examination
revealed a palpable liver 2-3 cm, tender with splenomegaly. Rest
of the systemic examination was normal.
Six days after admission the patient’s condition deteriorated
rapidly. He spiked a high grade fever, turned much more pale
and developed mucocutaneous petechial bleeding.

132. 1. Complete Blood count
2. Serum Biochemistry
3. Culture
4. Biopsy

133. CBC
• Investigations revealed a total WBC count
ranging from 2530/cumm to 4900/cumm. and
platelet counts ranging from 92000/cumm to
1.38 lacs/cumm.
6 days later: sudden drop in Hb from 9.8gm/ dl
to 2.9 gm/dl and drop in platelet count to
20,000/ cumm.

134. Serum Biochem
• Derangement of LFTs: total biliirubin- 2.68mg%,
direct of 2mg%,SGOT 663U/L,SGPT 210U/L. ,
hypertriglyceridemia
• High level of plasma ferritin and IL-2 receptor
• Increased levels of fibrin split products
• High levels of TNF-a, IL-1 and 6

135. Culture
• Urine Culture/ sensitivity - E.coli >10^5
colonies/hpf
• BM grew Klebsiella pneumoniae.
• No other culture grew organisms

136. Biopsy
• Left axillary lymph node biopsy -- Reactive
Hyperplasia
• mildly hypo cellular bone marrow with
hemophagocytosis and erythroblastopenia.

137. Diagnosis
• Hemophagocytic Lymphhistiocytosis

138. 2. An 8 year old female patient reported clinical symptoms of 7 days of evolution
characterized by frontal headache, fever, abdominal pain, and severe myalgia. In the
last 3 days, the patient developed a maculopapular rash that started in both forearms
and progressed into a generalized exanthema mainly in palms and soles.
The mother of the patient informed us of a recent visit to the mountain ranges on the
outskirts of the city for a trip. No other members of the family or neighbor reported
symptoms of the disease.
The physical examination of the patient at the time of arrival reported that the patient
was alert, conscious, with a generalized myalgia, and dehydrated. The patient had a
fever of 38.5°C, a heart rate of 136 beats/minute, an oxygen saturation of 97%, the
arterial pressure of 84/30 mm of Hg with a mean arterial pressure of 50 mm of Hg,
conjunctival injection, and generalized maculopapular rash, however more severe in
face, palms, and sole. There were several small circular black patches over the fingers,
toes, ears and elbows.
• Upon admission into the hospital, before a diagnosis could be made the patient
developed hypotension, oliguria, hepatic dysfunction, and DIC, and was immediately
transferred into the intensive care unit where assisted respiration was initiated.

139. • 1. CBC
• 2. Serum Biochemistry
• 3. Serology
4. Biopsy and culture

140. CBC
• Hb: 11.5 g/dL, leukocytes: 7 040/mL with 54%
polimorphonuclear, 30% bands and toxic
granulation, platelets: 22,000/mL,

141. Serum biochem
• C-reactive protein: 248. Creatinine and uric acid
blood concentrations were normal and
deranged further in the course of disease.
• LFTs: deranged 6 days later.
• High FDPs

142. Serology
• Positive Weil- Felix test

143. Biopsy and culture
• Fibrinoid necrosis and thrombosis of small
blood vessels throughout body.
• No culture grew on ordinary bacterial media,
or enriched ones.

144. Diagnosis
• Rocky mountain spotted fever

145. 3. A 14 year old male presented with one week history of episodic
severe abdominal pain associated with vomiting 3 to 4 times a day
and dark reddish urine. He developed rapidly progressive weakness
in all the four limbs for 2 days prior to hospitalization. In the past, he
had 2 episodes of similar abdominal pain along with altered
sensorium , aggressiveness and generalised epileptic fits but without
any weakness of limbs.
Examination revealed a fully conscious, thin built patient with normal
pulse and blood pressure. Abdominal examination did not reveal any
abnormality. Neurological checkup showed features of flaccid
quadriparesis with sluggish reflexes. There was no sensory
impairment.
The patient reported a history of binge drinking the night before
symptoms developed. He reported a similar complaint in his siblings
as well.

146. • 1. CBC
• 2. Urine analysis
• 3. Neurological investigations: NCV and CSF
4. Pedigree Analysis

147. CBC
• Laboratory investigations showed the TLC of
11,300/cmm with a DLC of P-77%, L-19%, E-
3% and M-1%. His hemoglobin was 13.5 gm%
and ESR, 27 mm in the 1st hour.

148. Urine analysis
• No sediments/ casts/ culture grown.
• Urine was strongly positive for PBG and ALA.
Urine samples of his parents and sisters were
negative for this pigment.

149. Neurophysio
• NCV showed features of diffuse neuropathy.
CSF: NAD

150. Pedigree analysis

151. Diagnosis
• Acute Intermittent Porphyria

152. 4.
• A 77-year-old man was admitted to the hospital because of
progressive dyspnea for seven days. Three years prior to admission,
he was diagnosed with PSVT. He had been prescribed a low-dose
antiarrhythmic since then. The family and social history were not
contributory. He also complained of pleuritic chest pain and non-
productive cough.
• On admission, blood pressure was 150/90mmHg, temperature
38.4°C, pulse rate 88/min and respiration rate was 28/min.
• On physical examination, he was alert, but appeared acutely ill. On
auscultation, end inspiratory rales were heard on entire right lung
field and left lower lung field, and the heart sound was regular with
diastolic murmur on left lower parasternal border. The other physical
examinations were normal.

153. • Blood tests
• Blood culture
• HRCT
• Open lung biopsy

154. • BLOOD TEST: The hematocrit was 33%; the white-cell
count was 36300/mm3, with 83% neutrophils and 1%
eosinophils. The ESR was 60mm/hour. The blood chemical
findings were normal. Values were normal for urea
nitrogen, creatinine, glucose, sGOT, sGPT, alkaline
phosphatase, bilirubin and protein(albumin and globulin),
the serologic tests for rheumatoid factor, anti-nuclear
antibody, LE cell and anti-double strand DNA Ab were
negative. The arterial blood gas analysis showed PH; 7.40,
PaCo2; 39mmHg, PaO2; 43mmHg, HCO3; 24mmol/L.

155. • BLOOD CULTURE: Negative for any growth.

156. • HRCT: The high resolution computed
tomography revealed patchy or lobar distributed
increased opacities with air-bronchograms on
both upper lobes, right middle lobe and both
lower lobes, thickening of interlobular septa and
also noted bilateral minimal pleural effusions .
No intra-alveolar fluid seen.

157. • OPEN LUNG BIOPSY: Open lung biopsy disclosed mild
intertitial fibrous thickening and infiltration of a few
lymphocytes. Most air spaces were filled with a variable
number of foamy alveolar macrophages. These foamy
cells were also noted in the alveolar lining cells and within
the interstitium. Focal area of fibrinous exudation and
formation of hyaline membrane along the alveoli was
present, suggestive of diffuse alveolar damage. Ultra-
structural findings demonstrated multiple electron dense
lamellar bodies in the cytoplasm of foam cells

158. Diagnosis
• Amiodarone induced lung fibrosis

159. 5.
• A woman aged 36 years with a past history of generalised lymphadenopathy and
recurrent infections presented with symptoms of abdominal pain, diarrhoea,
followed a few days later by increasing dyspnoea with haemoptysis and weight
loss.
Prior to arrival in the USA, she lived in the Democratic Republic of Congo.
She was afebrile, and had bilateral expiratory wheezing on examination. Her
condition was rapidly deteriorating even on regular antimicrobial regime and
supportive treatment.

160. • 1. Cell count in sample
• 2. Serology+Blood culture
• 3. BAL/Sputum microscopy
• 4. Intestinal biopsy

161. Cell counts
• 11 nucleated cells/μL noted (11% neutrophils,
4% lymphocytes, 77% mononuclear cells and
8% eosinophils).
• T-helper CD4 cell count was 106 (9%)

162. Serology+Blood culture
• E/R/S for HIV-1: positive
• Blood cultures grew Klebsiella pneumoniae

163. BAL/Sputum microscopy
• Live Strongyloides larvae.
Cytopathology studies were also notable for
the presence of Strongyloides
stercoralis larvae.

164. Biopsy
• Eosinophil rich infiltrate in lamina propria with
several larvae, eggs and adult worms in crypts.

165. Diagnosis
• Hyperstronglyoidosis in an AIDS patient

166. 6.
• A 70-year-old Caucasian man presented with acute episodes of bright red blood
per rectum, associated with dizziness and fatigue. The patient had no history of
abdominal pain, fever, diarrhoea, prior history of GI bleeding or underlying
coagulation disorder. His previous colonoscopy in 2009 was unremarkable. His
medical history was pertinent for hypertension and prostatic cancer status post
resection. He was not on any non-steroidal anti-inflammatory drugs or
anticoagulants. Family and social history was unremarkable with respect to his
presenting symptoms.
• On physical examination, the patient was awake and alert, but hypotensive (blood
pressure 86/52 mm Hg), tachycardic (heart rate 112 bpm) and orthostatic.
Cardiovascular and respiratory system examination was otherwise unremarkable.
Abdominal examination revealed tenderness in the left lower quadrant of the
abdomen without guarding, rigidity or rebound tenderness. Peripheral pulses were
weak and extremities were cold. Digital rectal examination revealed bright red
blood on the examining finger.

167. • Blood test
• CT Angiography
• Rheumatology workup
• Endoscopy + colonoscopy workup with biopsy

168. • BLOOD TESTS: His initial laboratory results showed a
blood urea nitrogen of 21 mg/dL and creatinine
1.5 mg/dL compared with a baseline of 8 and
0.9 mg/dL, respectively, haemoglobin 7.5 g/dL
compared with a baseline of 14 g/dL. Haematocrit
was 24.9 g/dL, with platelet count of 55×103/µL
and International Normalised Ratio of 1.37.
Hepatitis B and C antibodies were negative. HIV test
was negative.

169. • CT ANGIO: diffuse irregularity of the branches
of the SMA with multiple narrowing and small
pseudoaneurysms. The pseudoaneurysms
were also seen in the left gastric artery and the
splenic artery.

170. • RHEUMATOLOGY WORKUP: low C3 and C4
levels with slightly raised erythrocyte
sedimentation rate and C reactive protein and
negative antinuclear antibody, anti-ds-DNA and
proteinase-3 antibodies.

171. • SCOPIES WITH BIOPSY: upper GI endoscopy was
performed which showed grade 2 oesophageal
varices with no stigmata of recent bleeding and
one small, non-bleeding gastric polyp.
Colonoscopy showed copious amount of blood in
the colon and distal ileum, with no active source
of bleeding. Biopsies from the ileum and colon
were unremarkable, except for fibrinoid
inflammation of some smaller arterial walls, along
with some arteries having a thickened fibrous
wall.

172. Diagnosis
• Polyarteritis Nodosa