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Junior Medilectuals- Mains
1)All rounds are pounce and bounce.
2)+20, 0 on self question
3)+30, -15 on pounce
4)Self pounce applicable.
5)Decision of quiz master shall be final and binding
DRY ROUND
A 26 year old primigravida of 30 weeks gestation presents with
worsening non pruritic jaundice for one week. There is no associated
abdominal pain, nausea, vomiting, or fever, and her antenatal period
has otherwise been uneventful. Her medical history is unremarkable
other than a few episodes of jaundice during her teens, all of which
resolved spontaneously after a few days. She neither smokes nor
drinks. A hepatitis panel is negative for Hepatitis A,B and C. On
examination, patient is pale and icteric. Pulse is 92 bpm, good volume
and regular. BP is 110/68 mm Hg. Abdomen is soft and non tender. LFT
:- AST, ALT and ALP are within normal limits. Total bilirubin: 4.2 mg/dL
and conjugated bilirubin: 3.5 mg/dL. Urine total coproporphyrin: 180
mcg/24 hrs(<200) and urine coproporphyrin I: 85%(20-45%). A cross
section of the liver in this condition is shown:
1)What is the diagnosis?
2) What is the underlying defect?
1) Dublin Johnson syndrome
2) Mutation in MRP2.
A 45-year-old man from western Kentucky presents to the emergency department
in September complaining of fevers, headaches, and muscle pains. He recently
had been on a camping trip with several friends during which they hunted for their
food, including fish, squirrels, and rabbits. He did not recall any tick bites during
the tripbut does recall having several mosquito bites. For the past week, he has
had an ulceration on his right hand with redness and pain surrounding it. He also
has noticed some pain and swelling near his right elbow. None of the friendshe
camped with have been similarly ill. His vital signs are as follows: BP 106/65
mmHg, HR 116 bpm, RR 24 breaths/min, and temperature 38.7°C. His oxygen
saturation is 93% on room air. He appears mildly tachypneic and flushed. His
conjunctiva are not injected, and his mucous membranes are dry. The chest
examination reveals crackles in the right mid-lung field and left base. His heart
rateis tachycardic but regular. There is a II/VI systolic ejection murmur heard best
at the lower left sternal border. On the right hand, there is an erythematous ulcer
with a punched-out centre covered by a black eschar. He has markedly enlarged
and tender lymph nodes in the right axillae and epitrochlear regions. The
epitrochlear node has some fluctuance with palpation. A chest x-ray shows fluffy
bilateral alveolar infiltrates. What is the diagnosis/organism implicated?
Tularaemia
Francisella tularensis
A 66 year old female with a history of mild chronic obstructive pulmonary
disease (on inhaled therapy only), diabetes, hypertension and a kidney
transplant one month back presented with a two day history of gradually
worsening diplopia and unsteadiness. She had been feeling generally unwell
for the preceding 10 days, with a mild frontal headache and lethargy. She was
apyrexial with a normal mental state and no signs of meningism. She had an
ataxic gait, right-sided gaze-evoked nystagmus and dysmetria. Cranial nerve
examination was unremarkable. Peripheral nervous system examination
revealed brisk right lower limb reflexes with an upgoing Babinski reflex. Bloods
tests revealed neutrophilia (14,400 cells/microL). All bloods cultures were
negative. Human immunodeficiency virus antibody, Lyme IgM/G, anti-nuclear
and anti-neuronal antibodies were negative. Cerebrospinal fluid analysis
revealed high protein 167 mg/dL, normal glucose 64.8 mg/dL and high white
cell count 195 cells/microL (95% polymorphs). MRI of the brain is shown.
What is the organism implicated in the above case?
Listeria monocytogenes
A 54-year-old man is evaluated by a gastroenterologist for diarrhea that has been present for
approximately 1 month. He reports stools that float and are difficult to flush down the toilet; these
can occur at any time of day or night but seem worsened by fatty meals. In addition, he reports
pain in many joints lasting days to weeks and not relieved by ibuprofen. His wife notes that the
patient has had difficulty with memory for the last few months. He has lost 30 pounds and reports
intermittent low-grade fevers. He takes no medications and is otherwise healthy. Intestinal biopsy
is shown. Diagnosis?
Whipple’s disease
A 8 year old girl presents with headache, difficulty in gait and diplopia for
1 month. She also complains of menstrual bleeding a week back. On
examination, her vitals are significant for a heart rate of 56 bpm. General
examination is significant for presence of axillary and pubic hair. She also
has lid retraction, large pupils that react poorly to light, impaired upgaze,
and convergence retraction nystagmus. Fundoscopic examination
reveals papilledema. What is your diagnosis?
Pinealoma
Twin twin transfusion syndrome is a phenomenon seen in monochorionic
twins, arising from the presence of a single or multiple arteriovenous
communications between the two twins. Blood is transferred
disproportionately from one twin (the donor) to the other (the recipient),
resulting in decreased blood volume in the donor and increased volume
in the recipient.What is the expected status of amniotic fluid in these
twins? Why?
Abnormal connections form in the placenta
leading to uneven blood flow distribution
between the two twins. So one twin is
dehydrated and produces less urine while
the twin produces more urine.
Systems Round
‱ Cardiovascular System
‱ Immunology
‱ GIT
‱ Neurology
‱ Microbiology
‱ Endocrinology
Cardiovascular system
Q1. A woman age 70 years with a five-year history of
hypertension who has required progressively more
medication because of persistent high blood pressure. She is
taking five medications, including a diuretic, but still has a
blood pressure of 165/95 mm Hg (well above the current
standard definition of hypertension of 140/90 mm Hg). He
says that the patient is asymptomatic and that her physical
examination was normal. The patient's serum potassium
levels have ranged from 3.2 to 3.5 mEq/L for many years
despite potassium supplementation, which had been
attributed to her diuretic use. Her renal function is normal.
Why is she not responding to antihypertensive therapy?
Explain the underlying mechanism?
Hypokalemia reduces sodium excretion by activation
of thiazide sensitive sodium chloride co-transporters
via the WNK pathway.
Q2. An 84-year-old woman is seen by her primary care
physician for evaluation of severe headaches. She noted these
several weeks ago, and they have been getting worse.
Although she has not had any visual aura, she is concerned
that she has been intermittently losing vision in her left eye for
the last few days. She denies new weakness or numbness, but
she does report jaw pain with eating. Her past medical history
includes coronary artery disease requiring a bypass grafting 10
years prior, diabetes mellitus, hyperlipidemia, and mild
depression. Full review of symptoms is notable for night sweats
and mild low back pain particularly prominent in the morning.
What is the diagnosis?
Giant cell arteritis
Immunology
Q1. A 14 month old child has had multiple infections since birth,
including pneumonia with Pseudomonas aeruginosa, adenovirus,
and Aspergillus fumigatus; diarrhoea with Isospora belli; otitis
media with Hemophilus influenzae; and UTI by Candida albicans.
Laboratory studies show hemoglobin, 13.2 g/dL; hematocrit,
39.7%; platelet count, 239,100/mm3; and WBC count, 3450/mm3
with 85% segmented neutrophils, 6% bands, 2% lymphocytes and
7% monocytes. Serum immunoglobulin levels are IgG, 118
mg/dL(453-916 mg/dL); IgM, 14 mg/dL(19-146 mg/dL); and IgA, 23
mg/dL(20-100 mg/dL). The child dies of pneumonia. At autopsy, a
hypoplastic thymus, small lymph nodes that lack germinal centres,
and scant gut associated lymphoid tissue are seen.
1. Diagnosis?
2. Mode of inheritance and corresponding mutation(any 1)?
1. Severe Combined Immunodeficiency syndrome
2. Adenosine Deaminase Deficiency(Autosomal Recessive);
Cytokine receptor gamma chain(X-linked recessive)
Q2. Johnny Stewart, a 4-year-old boy, presents to the hospital
with hypotension, lethargy, and hyponatremia. You also note
that his potassium is elevated to 5.7 mEq/dL. He is afebrile and
has a normal complete blood count. However, you note
extensive oral thrush. On review of his chart, you note that he
has had multiple treatment courses for thrush and cutaneous
candidal infections. Human immunodeficiency virus (HIV)
antibody tests have been negative. Also, you note that at 1 year
of age, he had an episode of tetany prompting an emergent
presentationto the hospital, where he was found to be
hypocalcemic. Ultimately, he was diagnosed with
hypoparathyroidism. Diagnosis?
Autoimmune Polyendocrine Syndrome 1
GIT
Q1. A 26 year old main has intermittent cramping abdominal pain and low
volume diarrhoea for 3 weeks. On examination, he is afebrile; there is mild
lower abdominal tenderness but no masses, and bowel sounds are present. A
stool sample is positive for occult blood. The symptoms subside within 1 week.
Six months later, the abdominal pain recurs with perianal pain. On physical
examination, there is now a perirectal fistula. Colonoscopy shows many areas
of mucosal edema and ulceration and some areas that appear normal.
Microscopic examination of a biopsy specimen from an ulcerated area shows a
patchy acute and chronic inflammatory infiltrate, crypt abscesses, and
noncaseating granulomas. A month later, the patient presents with severe
episodic pain from loin to groin. His X ray KUB is shown. What is the
composition of the pathology shown in the KUB? It's pathogenesis?
1. Calcium oxalate stone
2. There is fat malabsorption due to which
calcium combines with the fatty acids while
oxalates are absorbed.
Q2. Why does long term oral antibiotic therapy
lead to mild watery diarrhoea?
PS:- It’s not pseudomembranous colitis!
Gut flora produces short chain fatty acids to
nourish intestinal mucosa. Their absence
leads to mucosal atrophy and watery
diarrhoea due to loss of ENaC channels.
Neurology
A 4 year old boy presents with worsening unsteadiness while walking and slurring of
speech for a few months. His medical history is significant for recurrent respiratory tract
infections for several years. His sister died of overwhelming sepsis at 13 years, following
a similar illness with recurrent respiratory infections and developmental regression. His
parents are apparently normal. His birth history is unremarkable and all immunisations
are up to date. CNS examination reveals truncal and gait ataxia, dysarthria, gaze evoked
nystagmus and abnormal saccadic eye movements. Deep tendon reflexes are normal.
Pulse is 100 BPM and regular. BP is 90/60 mmHg. Bilateral scleral dilated vessels are
seen laterally on fundoscopy, but there's no pain, itching or discharge. Gross and fine
motor age is 2-3 years, otherwise he is developmentally normal. Serum AFP levels are
17.8 ng/mL(normal < 5 mg/mL). Serum IgG levels are 910 mg/dL(normal), serum IgM
levels are 60 mg/dL(normal) and serum IgA levels are 3 mg/dL(<2SD below normal). A
chest X ray reveals an absent thymic shadow. An MRI of the brain is shown
What is the diagnosis?
Ataxia telengectasia
A 43-y-old white female presented to the hospital with pain in the
left eye and left upper lid ptosis. She did not perceive any
difference in perspiration between the two halves of her face.
She was a nonsmoker and denied any history of head or neck
trauma, or ocular, cardiac, vascular, or neurologic disease.
Neuro-ophthalmological examination was normal except for 1
mm of left upper eyelid ptosis, miosis, and mild enophthalmos.
There was no carotidynia or carotid bruit. A chest radiograph is
shown.
1) Diagnosis?
2) Possible site of lesion?
1) Painful Horner’s syndrome
2) Internal carotid artery dissection
Microbiology
A 46 year old man has had gradually increasing abdominal
distension along with deceased libido for the past 7 months.
Physical examination reveals excessive skin pigmentation in
sun exposed areas. He has an abdominal fluid wave and
modest splenomegaly. Fasting serum laboratory findings include
glucose, 200 mg/dL; creatinine, 0.8 g/dL; ferritin, 650 ng/mL;
total protein, 6.3 g/dL; and albumin, 2.2 g/dL. His total bilirubin,
AST, ALT, and alkaline phosphatase values are normal.
Haemoglobin is 13.5 g/dL, hematocrit is 40.6%, MCV is 94 um3,
platelet count is 200,000/mm3, and WBC count is 6570/mm3.
His prothrombin time is 20 seconds, and partial thromboplastin
time is 65 seconds. The patient now presents with fever, chills,
bloody diarrhea and right lower quadrant abdominal pain. His
1.What is the diagnosis?
2.Why was this person predisposed to this
condition?
3.Selective medium for the organism
1. Mesenteric adenitis due to Yersinia enterocolitica
2. Due to hemochromatosis
3. Cefsulodin irgasan novobiocin agar
A 43-year-old man comes to the physician complaining of 1 month of low-
grade fever, malaise, shortness of breath, and a growing skin lesion. He
resides in the upper peninsula of Michigan and works as a landscaper. He
avoidsmedical care as much as possible. He is on no medications and
smokes 2 packs per day of cigarettes. Over the last month, he notices that
his daily productive cough has worsened, and the phlegm is dark yellow. He
also reports that he has developed a number of skin lesions that start as
painful nodules then, over a week, ulcerate and discharge pus. His physical
examination is notable for egophony and bronchial breath sounds in the right
lower lobe, and approximately 5-10 ulcerating 4-to 8-cm skin lesions on the
lower extremities. His chest radiograph shows right lower lobe consolidation
with no pleural effusion and no evidence of hilar or mediastinal adenopathy.
Diagnosis and drug of choice?
1) Disseminated blastomycosis
2) Itraconazole
Endocrinology
A 55 year old man experiences episodes of diaphoresis, dyspnea and diarrhea for 10
months. The patient also complained of abdominal discomfort in the umbilical region and
underwent endoscopy. There are no abnormal findings with upper endoscopy. A CT scan
of the abdomen was performed which is shown below. Camera endoscopy is performed,
and on review of the images, there is a mid jejunal mass that arises from the wall and
leads to multiple episodes of subacute intestinal obstruction. At laparotomy a 5 cm
submucosal mass is resected, and on microscopy it is composed of nests and
trabeculae of round cells with pink, granular cytoplasm.
1.Diagnosis?
2.What is the heart lesion you expec
to find in this case?
1.Carcinoid syndrome
2.TIPS
A 10-day-old male infant presented to the emergency department with a 3-
day history of poor feeding and lethargy. No fever or irritability was noted.
He was born at 40 weeks’ gestation by emergency caesarean section with
no complications. His birth weight was 2.80 kg (2nd–9th centile); length
49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile).
His antenatal scans were normal. Family history is insignificant. On initial
examination, he was crying, alert, but bradycardic (heart rate of 65
beats/min), with sunken eyes, normal oral mucosa and a slightly depressed
anterior fontanelle. His respiratory rate was 50 breaths/ min and was
saturating at 99% in air. His chest was clear and he had a 2/6 systolic
murmur best heard in the pulmonary area. Examinations of the respiratory
system and abdomen were within normal limits. His ECG showed broad
complex bradycardia. His blood pressure was recorded as 92/56 mm Hg
(above 50th centile). His initial blood gas showed the following: pH 7.30
(7.35–7.45), HCO3 16.1 mmol/L (22–28 mmol/L), Na 112 mmol/L (135–
1. Congenital Adrenal Hyperplasia
2. 21 alpha hydroxylase deficiency
CONNECT ROUND
Charcot
Multiple sclerosis
Ascending cholangitis
Tabes dorsalis
Connexin
Leser-Trelat sign
Multiple seborrheic dermatoses
Horn cysts
Stomach cancer
TGF alpha
Pamidronate
Atypical chalk stick fracture of
femur
Looser’s zones
FSGS
Osteoporosis
Q fever
Fibrin ring granuloma
Atypical pneumonia
Culture negative endocarditis
Tetracycline
Phencyclidine
Angel dust
Catalepsy
NMDA anatgonist
Mydriasis
IgA nephropathy
Mesangial thickening
Mesangial deposits on
immunofluorescence
Hematuria
Association with celiac disease
Bidding round
1. There will be total 6 questions in this round.
2. You can bid any number of points in multiples of 5.
3. You can bid upto a maximum of the number of points you have.
4. A correct answer will award you +2x marks, but a wrong answer
would deduct –x marks from your score.
Q1.
A 19 year old man presents with swelling and discomfort of the
right side of his neck for 1 day, in a background of fever, a sore
throat and difficulty in swallowing for 6 days. His symptoms
have progressively worsened over time, even though he was
started on oral Erythromycin 3 days ago. His medical and family
histories are unremarkable. A full blood count is significant for a
leukocyte count of 12,600/mm3 (93% Neutrophils).
A chest X ray reveals multiple, peripheral, ill defined nodules in both lung
fields. Bilateral blunting of the costophrenic angles is noted. A contrast CT of
neck shows a tubular hypodensity suggestive of right internal jugular vein
(UV) thrombosis; parapharyngeal soft tissue edema is present. A small
lesion is also visualized in the upper lobe of the right lung. A gram stain
prepared from throat swab reveals pleomorphic, gram negative bacilli. The
patient responds to two weeks of metronidazole therapy. What is your
diagnosis?
Lemierre’s syndrome
Q2.
Aldosterone’s actions include sodium and water retention and
potassium excretion. Both hypovolemia and hyperkalemia are
potent stimuli for aldosterone secretion. But in a patient of
hypovolemia, there is no resultant hypokalemia and in a patient
of hyperkalemia, there is no resultant hypervolemia due to
aldosterone. How do you explain this?
During hypovolemia, angiotensin II stimulates NaCl absorption by
the proximal tubule and by the early distal tubule via the WNK
pathway. In principal cells, WNK activated by angiotensin prevents
potassium excretion. In hyperkalemia, only aldosterone rises
leading to potassium excretion but no sodium retention as there is
no increase in sodium absorption proximally in early DCT by WNK.
Q3.
The histopathology of ulcers caused by two related
servars of Salmonella enterica namely Salmonella
enterica serovar Typhi and Salmonella enterica serovar
Enteritidis was observed and it was seen that the
inflammatory infiltrate in the former case was
mononuclear while it was neutrophilic in the latter case.
Why do you think this difference exists?
Due to presence of Vi antigen in Salmonella Typhi.
Q4.
A 18 year old man presents with severe mid-abdominal
pain radiating to his back. Physical examination reveals
a temperature of 38.0 degrees Celsius, blood pressure
of 95/55 mmHg, heart rate of 110 bpm, and respiratory
rate of 18 breaths/min, with room air oxygen saturation
96%. His abdomen is diffusely tender with voluntary
guarding and no rebound tenderness. There is also
enlargement of liver and spleen. He has eruptive
xanthomas on his hands, feet and legs. His lipase is
2300 U/L, and he has a fasting triglyceride level 1019
mg/dL. On fundoscopic examination, retinal vessels
show an opalescent appearance. What is the diagnosis?
Lipoprotein lipase deficiency
Q5.
A 6-year-old male term child, born of second degree consanguineous marriage
presented with thickening of palms and soles since 1 year of old. There was a history of
recurrent fever with cough, loss of appetite, and exertional breathlessness for 2 months.
Developmental history was normal. Past medical history and personal history were
noncontributory. His younger sibling was normal. General physical examination showed
tachycardia with a heart rate of 110/min. Cutaneous examination revealed focal
hyperkeratotic plaques and papules over the palms and soles predominantly over the
pressure points. Palmoplantar hyperlinearity was noted. Facial examination showed fine
scaling and multiple follicular papules on the scalp, forehead, eyebrows, nose, and
cheeks. Exfoliation and cheilitis were present on the lips. Hair examination showed short,
lustreless, and coarse woolly hair involving the entire scalp and eyebrows. Trichomegaly
with outward turning of the eyelashes was noted. Nail and oral mucosa examination
were normal. Systemic examination revealed gallop rhythm with pericardial bulge. Other
systemic examination was normal. Blood biochemistry profile was within normal limits.
Chest X-ray showed left cardiomegaly. An ECG is shown below.
Two-dimensional echocardiogram showed dilated left ventricle and left atrium, mild
mitral regurgitation, and left ventricular dysfunction with ejection fraction of 30%.
1. Diagnosis ?
2. Associated mutation?
1.Carvajal syndrome
2.Desmoplakin
Q6
A 45 year old man presents with multiple lumps over his face and neck for 3
months. The lumps are small painless, and non tender Close questioning
reveals intermittent low grade fever, a non productive cough anorexia, and a
loss of 10 kg of weight all over the last half year. His medical and surgical
histories are unremarkable, and he is not on any medications. He does not
smoke, but drinks around 7-10 units of alcohol per week. He has had
unprotected sexual intercourse with multiple women over the past two
decades. He has never engaged in intravenous drug abuse. He is an
unmarried Thai citizen, and lives and works in Bangkok. He is currently
visiting his brother, who persuaded him to seek medical attention for his
complaints. A complete blood count shows a haemoglobin of 10.5/dL, WBC
count of 3,500/mm3, and platelet count of 180,000/mm3. A renal profile,
liver profile, random plasma glucose and HbA1c are all within normal
parameters Screening for HIV is positive. Generalexamination shows
multiple non tender papules over head and neck, about 5 mm in diameter
each, a few are umbilicated. Oral candidiasis is present. Auscultation of
Talaromycosis
Investigations round
1. There will be 6 questions in this round.
2. All questions will be open pounce.
3. Answer on reading case : +60/-20
4. Answer after 1st investigation : +40/-20
5. Answer after 2nd investigation : +20/-20
A 6 year old girl presents with complaints of progressive
reduction of strength in the lower limbs. The weakness involved
only the distal halves of the extremities. Patient also complains of
ataxia. The patient’s examination is notable for distal leg
weakness with reduced sensation to light touch in both lower
extremities. Calves are reduced in size bilaterally. Ankle jerk
reflex is unobtainable. The sural nerve is palpable. The pupils
constrict in response to accommodation but are not reactive to
light. Foot examination reveals pes cavus. Her past history is
significant for delayed achievement of motor milestones. Nerve
conduction study reveals profoundly decreased nerve conduction
velocity(6 m/s). Her parents and grandparents are normal.
Nerve biopsy followed by electron microscopy reveals profound hypomyelination
and classic onion bulbs composed of whorls of Schwann cell processes.
Genetic analysis reveals mutation in the MPZ
gene.
Dejerine Sottas Disease
An 40 year old man presented with lassitude and left precordial pain of
several days duration. The patient also complains of dizziness, fever,
weight loss, and night sweats. On examination, his pulse is 110 bpm,
respiratory rate is 18/min, bilateral ankle edema is present. On
auscultation, heart sounds are muffled. Laboratory tests were as follows:
Hb 8.4 g/dl (MCV 88 fl); WBC 3.1 × 10^3/ÎŒl (normal differential), platelets
160 × 10^3/ÎŒl, sodium 130 mmol/l, serum creatinine levels, calcium and
liver enzymes were normal. Serology for HIV is positive. Echocardiography
revealed a normal ejection fraction and moderate pericardial effusion. CT
scan of the chest is shown.
Pericardiocentesis yielded 1000 ml of clear exudative fluid (albumin 3.13
g/dl, LDH 10 229 IU/l) with WBC 2.3 × 10^3/ÎŒl, mostly lymphocytes.
Adenosine deaminase levels were normal as was PCR and cultures for
Mycobacterium tuberculosis.
H&E staining
CD15,19,20 negative
CD30,38,45 positive
Immunostaining for HHV 8 is
positive.
Primary effusion lymphoma
A 24 year old male presents with recurrent episodes of epistaxis. He also complains of
dyspnea on exertion and exercise intolerance. On examination, the patient is pale. Skin
lesions as as punctate, pulsating vascular papules the size of match heads are seen on
the face, palms and lips.
Auscultation of the chest reveals a bruit. Laboratory investigations reveal a
haemoglobin of 8.4 g/dL, TLC of 4,000/mm^3 and platelet count of 1,79,000/mm^3.
Bleeding time and coagulation profile are within normal limits. Pulse oximetry reveals
oxygen saturation of 88% which increases to 90% on administration of 100% oxygen.
Angiography reveals an arteriovenous malformation.
Punch biopsy of skin reveals dilated capillaries and new vessel
formation.
Genetic analysis reveals mutations in the Endoglin gene.
Osler Weber Rendu syndrome
A 22 year old male, previously diagnosed with Klinefelter’s
syndrome, presents with facial swelling, head fullness, arm
swelling, dry cough, vague chest pain and headache. Patient also
complains of anorexia and significant weight loss. On examination,
patient is pale. There are dilated veins on the neck and chest wall.
There is facial and upper extremity edema. Other significant
findings are gynaecomastia and testicular atrophy. Axillary and
pubic hair are sparse. Fundoscopic examination reveals
papilledema. There is no history suggestive of muscle weakness
or of exposure to tuberculosis. Blood investigations reveal anemia.
TLC and platelet count are normal. LFTs are normal.
CT guided biopsy is shown:
Mediastinal seminoma
A 15 year old female presents to you with decreased levels of
consciousness. She has 2 episodes of generalised tonic clonic seizures 3
days back. Her medical history is remarkable for dysphagia for both liquid
and solid foods, skeletal muscle weakness(proximal more than distal),
ataxia, decreased vision at night and episodes of syncope. She still hasn’t
attained menarche. She was diagnosed with diabetes mellitus a month
back. Examination reveals bradycardia, bilateral ptosis and external
ophthalmoplegia. Laboratory parameters are significant for hypocalcemia,
elevated blood lactate levels and low PTH levels.
CSF lactate levels are raised.
Serum CK is mildly elevated.Nerve conduction studies are normal.
MRI of brain reveals hyperintense subcortical white matter lesions along
with involvement of thalamus, basal ganglia and brain stem on T2
weighted images.
Muscle biopsy stained with Modified
Gomori Trichrome stain
Fibres positive for succinic
dehydrogenase but negative for
cytochrome oxidase stain blue.
Kearns Seyre Syndrome
A 16-year-old girl has had frequent nosebleeds
sincechildhood. Her gums bleed easily, even with routine
toothbrushing. She has experienced menorrhagia since
menarcheat age 13 years. On physical examination, there are
no abnormal findings. Laboratory studies show
hemoglobin,14.1 g/dL; hematocrit, 42.5%; MCV, 90 um3;
platelet count,277,400/mm3; and WBC count, 5920/mm3. PT
and aPTT are normal. A ristocetin agglutination test is
negative.
A genetic analysis reveals defect in Gp Ib/IX
glycoprotein gene.
Bernard-Soulier syndrome

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“A 22 years old male presented with obstructive jaundice.”
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Junior Medillectuals- Mains

  • 2. 1)All rounds are pounce and bounce. 2)+20, 0 on self question 3)+30, -15 on pounce 4)Self pounce applicable. 5)Decision of quiz master shall be final and binding
  • 4. A 26 year old primigravida of 30 weeks gestation presents with worsening non pruritic jaundice for one week. There is no associated abdominal pain, nausea, vomiting, or fever, and her antenatal period has otherwise been uneventful. Her medical history is unremarkable other than a few episodes of jaundice during her teens, all of which resolved spontaneously after a few days. She neither smokes nor drinks. A hepatitis panel is negative for Hepatitis A,B and C. On examination, patient is pale and icteric. Pulse is 92 bpm, good volume and regular. BP is 110/68 mm Hg. Abdomen is soft and non tender. LFT :- AST, ALT and ALP are within normal limits. Total bilirubin: 4.2 mg/dL and conjugated bilirubin: 3.5 mg/dL. Urine total coproporphyrin: 180 mcg/24 hrs(<200) and urine coproporphyrin I: 85%(20-45%). A cross section of the liver in this condition is shown:
  • 5. 1)What is the diagnosis? 2) What is the underlying defect?
  • 6.
  • 7. 1) Dublin Johnson syndrome 2) Mutation in MRP2.
  • 8. A 45-year-old man from western Kentucky presents to the emergency department in September complaining of fevers, headaches, and muscle pains. He recently had been on a camping trip with several friends during which they hunted for their food, including fish, squirrels, and rabbits. He did not recall any tick bites during the tripbut does recall having several mosquito bites. For the past week, he has had an ulceration on his right hand with redness and pain surrounding it. He also has noticed some pain and swelling near his right elbow. None of the friendshe camped with have been similarly ill. His vital signs are as follows: BP 106/65 mmHg, HR 116 bpm, RR 24 breaths/min, and temperature 38.7°C. His oxygen saturation is 93% on room air. He appears mildly tachypneic and flushed. His conjunctiva are not injected, and his mucous membranes are dry. The chest examination reveals crackles in the right mid-lung field and left base. His heart rateis tachycardic but regular. There is a II/VI systolic ejection murmur heard best at the lower left sternal border. On the right hand, there is an erythematous ulcer with a punched-out centre covered by a black eschar. He has markedly enlarged and tender lymph nodes in the right axillae and epitrochlear regions. The epitrochlear node has some fluctuance with palpation. A chest x-ray shows fluffy bilateral alveolar infiltrates. What is the diagnosis/organism implicated?
  • 9.
  • 11. A 66 year old female with a history of mild chronic obstructive pulmonary disease (on inhaled therapy only), diabetes, hypertension and a kidney transplant one month back presented with a two day history of gradually worsening diplopia and unsteadiness. She had been feeling generally unwell for the preceding 10 days, with a mild frontal headache and lethargy. She was apyrexial with a normal mental state and no signs of meningism. She had an ataxic gait, right-sided gaze-evoked nystagmus and dysmetria. Cranial nerve examination was unremarkable. Peripheral nervous system examination revealed brisk right lower limb reflexes with an upgoing Babinski reflex. Bloods tests revealed neutrophilia (14,400 cells/microL). All bloods cultures were negative. Human immunodeficiency virus antibody, Lyme IgM/G, anti-nuclear and anti-neuronal antibodies were negative. Cerebrospinal fluid analysis revealed high protein 167 mg/dL, normal glucose 64.8 mg/dL and high white cell count 195 cells/microL (95% polymorphs). MRI of the brain is shown.
  • 12. What is the organism implicated in the above case?
  • 13.
  • 15. A 54-year-old man is evaluated by a gastroenterologist for diarrhea that has been present for approximately 1 month. He reports stools that float and are difficult to flush down the toilet; these can occur at any time of day or night but seem worsened by fatty meals. In addition, he reports pain in many joints lasting days to weeks and not relieved by ibuprofen. His wife notes that the patient has had difficulty with memory for the last few months. He has lost 30 pounds and reports intermittent low-grade fevers. He takes no medications and is otherwise healthy. Intestinal biopsy is shown. Diagnosis?
  • 16.
  • 18. A 8 year old girl presents with headache, difficulty in gait and diplopia for 1 month. She also complains of menstrual bleeding a week back. On examination, her vitals are significant for a heart rate of 56 bpm. General examination is significant for presence of axillary and pubic hair. She also has lid retraction, large pupils that react poorly to light, impaired upgaze, and convergence retraction nystagmus. Fundoscopic examination reveals papilledema. What is your diagnosis?
  • 19.
  • 21. Twin twin transfusion syndrome is a phenomenon seen in monochorionic twins, arising from the presence of a single or multiple arteriovenous communications between the two twins. Blood is transferred disproportionately from one twin (the donor) to the other (the recipient), resulting in decreased blood volume in the donor and increased volume in the recipient.What is the expected status of amniotic fluid in these twins? Why?
  • 22.
  • 23. Abnormal connections form in the placenta leading to uneven blood flow distribution between the two twins. So one twin is dehydrated and produces less urine while the twin produces more urine.
  • 25. ‱ Cardiovascular System ‱ Immunology ‱ GIT ‱ Neurology ‱ Microbiology ‱ Endocrinology
  • 27. Q1. A woman age 70 years with a five-year history of hypertension who has required progressively more medication because of persistent high blood pressure. She is taking five medications, including a diuretic, but still has a blood pressure of 165/95 mm Hg (well above the current standard definition of hypertension of 140/90 mm Hg). He says that the patient is asymptomatic and that her physical examination was normal. The patient's serum potassium levels have ranged from 3.2 to 3.5 mEq/L for many years despite potassium supplementation, which had been attributed to her diuretic use. Her renal function is normal. Why is she not responding to antihypertensive therapy? Explain the underlying mechanism?
  • 28.
  • 29. Hypokalemia reduces sodium excretion by activation of thiazide sensitive sodium chloride co-transporters via the WNK pathway.
  • 30. Q2. An 84-year-old woman is seen by her primary care physician for evaluation of severe headaches. She noted these several weeks ago, and they have been getting worse. Although she has not had any visual aura, she is concerned that she has been intermittently losing vision in her left eye for the last few days. She denies new weakness or numbness, but she does report jaw pain with eating. Her past medical history includes coronary artery disease requiring a bypass grafting 10 years prior, diabetes mellitus, hyperlipidemia, and mild depression. Full review of symptoms is notable for night sweats and mild low back pain particularly prominent in the morning. What is the diagnosis?
  • 31.
  • 34. Q1. A 14 month old child has had multiple infections since birth, including pneumonia with Pseudomonas aeruginosa, adenovirus, and Aspergillus fumigatus; diarrhoea with Isospora belli; otitis media with Hemophilus influenzae; and UTI by Candida albicans. Laboratory studies show hemoglobin, 13.2 g/dL; hematocrit, 39.7%; platelet count, 239,100/mm3; and WBC count, 3450/mm3 with 85% segmented neutrophils, 6% bands, 2% lymphocytes and 7% monocytes. Serum immunoglobulin levels are IgG, 118 mg/dL(453-916 mg/dL); IgM, 14 mg/dL(19-146 mg/dL); and IgA, 23 mg/dL(20-100 mg/dL). The child dies of pneumonia. At autopsy, a hypoplastic thymus, small lymph nodes that lack germinal centres, and scant gut associated lymphoid tissue are seen. 1. Diagnosis? 2. Mode of inheritance and corresponding mutation(any 1)?
  • 35.
  • 36. 1. Severe Combined Immunodeficiency syndrome 2. Adenosine Deaminase Deficiency(Autosomal Recessive); Cytokine receptor gamma chain(X-linked recessive)
  • 37. Q2. Johnny Stewart, a 4-year-old boy, presents to the hospital with hypotension, lethargy, and hyponatremia. You also note that his potassium is elevated to 5.7 mEq/dL. He is afebrile and has a normal complete blood count. However, you note extensive oral thrush. On review of his chart, you note that he has had multiple treatment courses for thrush and cutaneous candidal infections. Human immunodeficiency virus (HIV) antibody tests have been negative. Also, you note that at 1 year of age, he had an episode of tetany prompting an emergent presentationto the hospital, where he was found to be hypocalcemic. Ultimately, he was diagnosed with hypoparathyroidism. Diagnosis?
  • 38.
  • 40. GIT
  • 41. Q1. A 26 year old main has intermittent cramping abdominal pain and low volume diarrhoea for 3 weeks. On examination, he is afebrile; there is mild lower abdominal tenderness but no masses, and bowel sounds are present. A stool sample is positive for occult blood. The symptoms subside within 1 week. Six months later, the abdominal pain recurs with perianal pain. On physical examination, there is now a perirectal fistula. Colonoscopy shows many areas of mucosal edema and ulceration and some areas that appear normal. Microscopic examination of a biopsy specimen from an ulcerated area shows a patchy acute and chronic inflammatory infiltrate, crypt abscesses, and noncaseating granulomas. A month later, the patient presents with severe episodic pain from loin to groin. His X ray KUB is shown. What is the composition of the pathology shown in the KUB? It's pathogenesis?
  • 42.
  • 43.
  • 44. 1. Calcium oxalate stone 2. There is fat malabsorption due to which calcium combines with the fatty acids while oxalates are absorbed.
  • 45. Q2. Why does long term oral antibiotic therapy lead to mild watery diarrhoea? PS:- It’s not pseudomembranous colitis!
  • 46.
  • 47. Gut flora produces short chain fatty acids to nourish intestinal mucosa. Their absence leads to mucosal atrophy and watery diarrhoea due to loss of ENaC channels.
  • 49. A 4 year old boy presents with worsening unsteadiness while walking and slurring of speech for a few months. His medical history is significant for recurrent respiratory tract infections for several years. His sister died of overwhelming sepsis at 13 years, following a similar illness with recurrent respiratory infections and developmental regression. His parents are apparently normal. His birth history is unremarkable and all immunisations are up to date. CNS examination reveals truncal and gait ataxia, dysarthria, gaze evoked nystagmus and abnormal saccadic eye movements. Deep tendon reflexes are normal. Pulse is 100 BPM and regular. BP is 90/60 mmHg. Bilateral scleral dilated vessels are seen laterally on fundoscopy, but there's no pain, itching or discharge. Gross and fine motor age is 2-3 years, otherwise he is developmentally normal. Serum AFP levels are 17.8 ng/mL(normal < 5 mg/mL). Serum IgG levels are 910 mg/dL(normal), serum IgM levels are 60 mg/dL(normal) and serum IgA levels are 3 mg/dL(<2SD below normal). A chest X ray reveals an absent thymic shadow. An MRI of the brain is shown
  • 50. What is the diagnosis?
  • 51.
  • 53. A 43-y-old white female presented to the hospital with pain in the left eye and left upper lid ptosis. She did not perceive any difference in perspiration between the two halves of her face. She was a nonsmoker and denied any history of head or neck trauma, or ocular, cardiac, vascular, or neurologic disease. Neuro-ophthalmological examination was normal except for 1 mm of left upper eyelid ptosis, miosis, and mild enophthalmos. There was no carotidynia or carotid bruit. A chest radiograph is shown.
  • 54. 1) Diagnosis? 2) Possible site of lesion?
  • 55.
  • 56. 1) Painful Horner’s syndrome 2) Internal carotid artery dissection
  • 58. A 46 year old man has had gradually increasing abdominal distension along with deceased libido for the past 7 months. Physical examination reveals excessive skin pigmentation in sun exposed areas. He has an abdominal fluid wave and modest splenomegaly. Fasting serum laboratory findings include glucose, 200 mg/dL; creatinine, 0.8 g/dL; ferritin, 650 ng/mL; total protein, 6.3 g/dL; and albumin, 2.2 g/dL. His total bilirubin, AST, ALT, and alkaline phosphatase values are normal. Haemoglobin is 13.5 g/dL, hematocrit is 40.6%, MCV is 94 um3, platelet count is 200,000/mm3, and WBC count is 6570/mm3. His prothrombin time is 20 seconds, and partial thromboplastin time is 65 seconds. The patient now presents with fever, chills, bloody diarrhea and right lower quadrant abdominal pain. His
  • 59. 1.What is the diagnosis? 2.Why was this person predisposed to this condition? 3.Selective medium for the organism
  • 60.
  • 61. 1. Mesenteric adenitis due to Yersinia enterocolitica 2. Due to hemochromatosis 3. Cefsulodin irgasan novobiocin agar
  • 62. A 43-year-old man comes to the physician complaining of 1 month of low- grade fever, malaise, shortness of breath, and a growing skin lesion. He resides in the upper peninsula of Michigan and works as a landscaper. He avoidsmedical care as much as possible. He is on no medications and smokes 2 packs per day of cigarettes. Over the last month, he notices that his daily productive cough has worsened, and the phlegm is dark yellow. He also reports that he has developed a number of skin lesions that start as painful nodules then, over a week, ulcerate and discharge pus. His physical examination is notable for egophony and bronchial breath sounds in the right lower lobe, and approximately 5-10 ulcerating 4-to 8-cm skin lesions on the lower extremities. His chest radiograph shows right lower lobe consolidation with no pleural effusion and no evidence of hilar or mediastinal adenopathy. Diagnosis and drug of choice?
  • 63.
  • 64.
  • 67. A 55 year old man experiences episodes of diaphoresis, dyspnea and diarrhea for 10 months. The patient also complained of abdominal discomfort in the umbilical region and underwent endoscopy. There are no abnormal findings with upper endoscopy. A CT scan of the abdomen was performed which is shown below. Camera endoscopy is performed, and on review of the images, there is a mid jejunal mass that arises from the wall and leads to multiple episodes of subacute intestinal obstruction. At laparotomy a 5 cm submucosal mass is resected, and on microscopy it is composed of nests and trabeculae of round cells with pink, granular cytoplasm. 1.Diagnosis? 2.What is the heart lesion you expec to find in this case?
  • 68.
  • 70. A 10-day-old male infant presented to the emergency department with a 3- day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal. Family history is insignificant. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO3 16.1 mmol/L (22–28 mmol/L), Na 112 mmol/L (135–
  • 71.
  • 72. 1. Congenital Adrenal Hyperplasia 2. 21 alpha hydroxylase deficiency
  • 74.
  • 75.
  • 77.
  • 78.
  • 79. Leser-Trelat sign Multiple seborrheic dermatoses Horn cysts Stomach cancer TGF alpha
  • 80.
  • 81.
  • 82. Pamidronate Atypical chalk stick fracture of femur Looser’s zones FSGS Osteoporosis
  • 83.
  • 84.
  • 85. Q fever Fibrin ring granuloma Atypical pneumonia Culture negative endocarditis Tetracycline
  • 86.
  • 87.
  • 89.
  • 90.
  • 91. IgA nephropathy Mesangial thickening Mesangial deposits on immunofluorescence Hematuria Association with celiac disease
  • 92. Bidding round 1. There will be total 6 questions in this round. 2. You can bid any number of points in multiples of 5. 3. You can bid upto a maximum of the number of points you have. 4. A correct answer will award you +2x marks, but a wrong answer would deduct –x marks from your score.
  • 93. Q1.
  • 94. A 19 year old man presents with swelling and discomfort of the right side of his neck for 1 day, in a background of fever, a sore throat and difficulty in swallowing for 6 days. His symptoms have progressively worsened over time, even though he was started on oral Erythromycin 3 days ago. His medical and family histories are unremarkable. A full blood count is significant for a leukocyte count of 12,600/mm3 (93% Neutrophils).
  • 95.
  • 96. A chest X ray reveals multiple, peripheral, ill defined nodules in both lung fields. Bilateral blunting of the costophrenic angles is noted. A contrast CT of neck shows a tubular hypodensity suggestive of right internal jugular vein (UV) thrombosis; parapharyngeal soft tissue edema is present. A small lesion is also visualized in the upper lobe of the right lung. A gram stain prepared from throat swab reveals pleomorphic, gram negative bacilli. The patient responds to two weeks of metronidazole therapy. What is your diagnosis?
  • 97.
  • 99. Q2.
  • 100. Aldosterone’s actions include sodium and water retention and potassium excretion. Both hypovolemia and hyperkalemia are potent stimuli for aldosterone secretion. But in a patient of hypovolemia, there is no resultant hypokalemia and in a patient of hyperkalemia, there is no resultant hypervolemia due to aldosterone. How do you explain this?
  • 101.
  • 102. During hypovolemia, angiotensin II stimulates NaCl absorption by the proximal tubule and by the early distal tubule via the WNK pathway. In principal cells, WNK activated by angiotensin prevents potassium excretion. In hyperkalemia, only aldosterone rises leading to potassium excretion but no sodium retention as there is no increase in sodium absorption proximally in early DCT by WNK.
  • 103. Q3.
  • 104. The histopathology of ulcers caused by two related servars of Salmonella enterica namely Salmonella enterica serovar Typhi and Salmonella enterica serovar Enteritidis was observed and it was seen that the inflammatory infiltrate in the former case was mononuclear while it was neutrophilic in the latter case. Why do you think this difference exists?
  • 105.
  • 106. Due to presence of Vi antigen in Salmonella Typhi.
  • 107. Q4.
  • 108. A 18 year old man presents with severe mid-abdominal pain radiating to his back. Physical examination reveals a temperature of 38.0 degrees Celsius, blood pressure of 95/55 mmHg, heart rate of 110 bpm, and respiratory rate of 18 breaths/min, with room air oxygen saturation 96%. His abdomen is diffusely tender with voluntary guarding and no rebound tenderness. There is also enlargement of liver and spleen. He has eruptive xanthomas on his hands, feet and legs. His lipase is 2300 U/L, and he has a fasting triglyceride level 1019 mg/dL. On fundoscopic examination, retinal vessels show an opalescent appearance. What is the diagnosis?
  • 109.
  • 111. Q5.
  • 112. A 6-year-old male term child, born of second degree consanguineous marriage presented with thickening of palms and soles since 1 year of old. There was a history of recurrent fever with cough, loss of appetite, and exertional breathlessness for 2 months. Developmental history was normal. Past medical history and personal history were noncontributory. His younger sibling was normal. General physical examination showed tachycardia with a heart rate of 110/min. Cutaneous examination revealed focal hyperkeratotic plaques and papules over the palms and soles predominantly over the pressure points. Palmoplantar hyperlinearity was noted. Facial examination showed fine scaling and multiple follicular papules on the scalp, forehead, eyebrows, nose, and cheeks. Exfoliation and cheilitis were present on the lips. Hair examination showed short, lustreless, and coarse woolly hair involving the entire scalp and eyebrows. Trichomegaly with outward turning of the eyelashes was noted. Nail and oral mucosa examination were normal. Systemic examination revealed gallop rhythm with pericardial bulge. Other systemic examination was normal. Blood biochemistry profile was within normal limits. Chest X-ray showed left cardiomegaly. An ECG is shown below.
  • 113. Two-dimensional echocardiogram showed dilated left ventricle and left atrium, mild mitral regurgitation, and left ventricular dysfunction with ejection fraction of 30%. 1. Diagnosis ? 2. Associated mutation?
  • 114.
  • 116. Q6
  • 117. A 45 year old man presents with multiple lumps over his face and neck for 3 months. The lumps are small painless, and non tender Close questioning reveals intermittent low grade fever, a non productive cough anorexia, and a loss of 10 kg of weight all over the last half year. His medical and surgical histories are unremarkable, and he is not on any medications. He does not smoke, but drinks around 7-10 units of alcohol per week. He has had unprotected sexual intercourse with multiple women over the past two decades. He has never engaged in intravenous drug abuse. He is an unmarried Thai citizen, and lives and works in Bangkok. He is currently visiting his brother, who persuaded him to seek medical attention for his complaints. A complete blood count shows a haemoglobin of 10.5/dL, WBC count of 3,500/mm3, and platelet count of 180,000/mm3. A renal profile, liver profile, random plasma glucose and HbA1c are all within normal parameters Screening for HIV is positive. Generalexamination shows multiple non tender papules over head and neck, about 5 mm in diameter each, a few are umbilicated. Oral candidiasis is present. Auscultation of
  • 118.
  • 119.
  • 121. Investigations round 1. There will be 6 questions in this round. 2. All questions will be open pounce. 3. Answer on reading case : +60/-20 4. Answer after 1st investigation : +40/-20 5. Answer after 2nd investigation : +20/-20
  • 122. A 6 year old girl presents with complaints of progressive reduction of strength in the lower limbs. The weakness involved only the distal halves of the extremities. Patient also complains of ataxia. The patient’s examination is notable for distal leg weakness with reduced sensation to light touch in both lower extremities. Calves are reduced in size bilaterally. Ankle jerk reflex is unobtainable. The sural nerve is palpable. The pupils constrict in response to accommodation but are not reactive to light. Foot examination reveals pes cavus. Her past history is significant for delayed achievement of motor milestones. Nerve conduction study reveals profoundly decreased nerve conduction velocity(6 m/s). Her parents and grandparents are normal.
  • 123. Nerve biopsy followed by electron microscopy reveals profound hypomyelination and classic onion bulbs composed of whorls of Schwann cell processes.
  • 124. Genetic analysis reveals mutation in the MPZ gene.
  • 125.
  • 127. An 40 year old man presented with lassitude and left precordial pain of several days duration. The patient also complains of dizziness, fever, weight loss, and night sweats. On examination, his pulse is 110 bpm, respiratory rate is 18/min, bilateral ankle edema is present. On auscultation, heart sounds are muffled. Laboratory tests were as follows: Hb 8.4 g/dl (MCV 88 fl); WBC 3.1 × 10^3/ÎŒl (normal differential), platelets 160 × 10^3/ÎŒl, sodium 130 mmol/l, serum creatinine levels, calcium and liver enzymes were normal. Serology for HIV is positive. Echocardiography revealed a normal ejection fraction and moderate pericardial effusion. CT scan of the chest is shown.
  • 128. Pericardiocentesis yielded 1000 ml of clear exudative fluid (albumin 3.13 g/dl, LDH 10 229 IU/l) with WBC 2.3 × 10^3/ÎŒl, mostly lymphocytes. Adenosine deaminase levels were normal as was PCR and cultures for Mycobacterium tuberculosis.
  • 130. Immunostaining for HHV 8 is positive.
  • 131.
  • 133. A 24 year old male presents with recurrent episodes of epistaxis. He also complains of dyspnea on exertion and exercise intolerance. On examination, the patient is pale. Skin lesions as as punctate, pulsating vascular papules the size of match heads are seen on the face, palms and lips. Auscultation of the chest reveals a bruit. Laboratory investigations reveal a haemoglobin of 8.4 g/dL, TLC of 4,000/mm^3 and platelet count of 1,79,000/mm^3. Bleeding time and coagulation profile are within normal limits. Pulse oximetry reveals oxygen saturation of 88% which increases to 90% on administration of 100% oxygen.
  • 134.
  • 135. Angiography reveals an arteriovenous malformation. Punch biopsy of skin reveals dilated capillaries and new vessel formation. Genetic analysis reveals mutations in the Endoglin gene.
  • 136.
  • 137. Osler Weber Rendu syndrome
  • 138. A 22 year old male, previously diagnosed with Klinefelter’s syndrome, presents with facial swelling, head fullness, arm swelling, dry cough, vague chest pain and headache. Patient also complains of anorexia and significant weight loss. On examination, patient is pale. There are dilated veins on the neck and chest wall. There is facial and upper extremity edema. Other significant findings are gynaecomastia and testicular atrophy. Axillary and pubic hair are sparse. Fundoscopic examination reveals papilledema. There is no history suggestive of muscle weakness or of exposure to tuberculosis. Blood investigations reveal anemia. TLC and platelet count are normal. LFTs are normal.
  • 139.
  • 140. CT guided biopsy is shown:
  • 141.
  • 143. A 15 year old female presents to you with decreased levels of consciousness. She has 2 episodes of generalised tonic clonic seizures 3 days back. Her medical history is remarkable for dysphagia for both liquid and solid foods, skeletal muscle weakness(proximal more than distal), ataxia, decreased vision at night and episodes of syncope. She still hasn’t attained menarche. She was diagnosed with diabetes mellitus a month back. Examination reveals bradycardia, bilateral ptosis and external ophthalmoplegia. Laboratory parameters are significant for hypocalcemia, elevated blood lactate levels and low PTH levels.
  • 144. CSF lactate levels are raised. Serum CK is mildly elevated.Nerve conduction studies are normal. MRI of brain reveals hyperintense subcortical white matter lesions along with involvement of thalamus, basal ganglia and brain stem on T2 weighted images.
  • 145. Muscle biopsy stained with Modified Gomori Trichrome stain Fibres positive for succinic dehydrogenase but negative for cytochrome oxidase stain blue.
  • 146.
  • 148. A 16-year-old girl has had frequent nosebleeds sincechildhood. Her gums bleed easily, even with routine toothbrushing. She has experienced menorrhagia since menarcheat age 13 years. On physical examination, there are no abnormal findings. Laboratory studies show hemoglobin,14.1 g/dL; hematocrit, 42.5%; MCV, 90 um3; platelet count,277,400/mm3; and WBC count, 5920/mm3. PT and aPTT are normal. A ristocetin agglutination test is negative.
  • 149.
  • 150. A genetic analysis reveals defect in Gp Ib/IX glycoprotein gene.
  • 151.