MAJOR CASES:

1.A 12-year-old boy of a day worker had difficulty to

see in the dim light. His eye examination showed
Xerophthalmia and Bitot’s. His plasma retinol level was
very low.
ANSWER THE FOLLOWING QUESTION:
a. What is the diagnosis?
b. What is the cause for disease?
c. What are Bitot’s spots?
d. What dietary advice will you give?
ANSWERS:
a. Night blindness or Nyctalopia
b. Vitamin A deficiency
c. Elevated white foamy triangle shaped patch in
conjunctiva.
d. Fish, sweet potato, carrot, green leafy
vegetable.
2.A 6-year-old boy had bone deformities such as bow
legs, pigeon chest and beaded ribs. He had history of
delayed eruption of teeth. The X-ray of wrist showed
marked cupping.
ANSWER THE FOLLOWING:
a. What is the diagnosis?
b. What is the cause?
c. What are the clinical features of the disease?
 d. What is the dietary advice will you give?
e. Investigations?
ANSWERS:
a. Rickets
b. Vitamin D deficiency, Phosphorous deficiency and
calcium deficiency.
c. Bone pain, frontal bossing, enlargement of ankle
and elbow, tetany.
d. Egg, Cod liver oil, Butter, Milk.
e. Serum calcium level, Phosphorous level, Chest X-
ray and Vitamin D level.
3.A 30-year-old man had fever and abdominal pain. His
stools were pale in color and contained fat. The man
urine was found to be dark in color. His lab findings are
given below.
Parameter in Results Reference range
serum
Total bilirubin 12.0mg/dl 0.2-1.0mg/dl
Direct bilirubin 11.5 mg/dl 0-4 mg/dl
Indirect bilirubin 0.5 mg/dl 0-6 mg/dl
ALT 70 U/L 10-45 U/L
AST 75 U/L 10-50 U/L
ALP 450 U/L 25-125 U/L

ANSWER THE FOLLOWING:

a. What is the probable diagnosis?
 b. Explain why direct bilirubin is increased?
c. Why ALP is markedly increased?
ANSWERS:
a. Obstructive jaundice(cholelithiasis)
b. Due to an obstruction in the bile duct that prevents
the passage of bile in to the intestine.so there is
increased conjugated bilirubin in the serum.
c. Serum bilirubin is elevated as it is released from
cells of damaged bile duct.
4.A 2year old boy having delayed developments and
was unable to speak or walk properly, he was found to
be mentally retarded with characteristic seizure and
tremors. Mother gave history of mousy odor of baby’s
urine. Laboratory investigation are as follows:
Parameters Results
Plasma phenylalanine 30mg/dl
(Ref.range-1-2mg/dl)
Urine ferric chloride test Positive

a. What is the diagnosis? Justify it.

b. What is the name of deficient enzyme?
c. Give the reaction catalyzed by this enzyme.
d. Name the test to diagnose the disease.
e. What is the treatment strategy?
ANSWERS:
a. Phenylketonuria. Since the patient shows mousy
odor of urine, mental retardation,
and increased plasma phenylalanine.
b. Phenylalanine hydroxylase
c. Phenylalanine phenylalanine Tyrosine
hydroxylase

d. Estimation of blood phenylalanine

Urine ferric test
Guthrie’s test
e. Diet containing low phenylalanine and rich
tyrosine.
5.A 29-year-old male, executive, living alone presents
with history of bleeding gums and petechial
hemorrhages* on skin of lower limbs. Due to busy
schedule, he is mainly dependent on frozen foods and
frequent order of cheese pizza. His diet consisted of
mainly carbohydrates which lacked fresh fruits and
vegetables.
On examination, gums were swollen and slight bleeding
near teeth were visible. Lower limb showed
spontaneous ecchymosis*. Perifollicular petechiae were
observed on trunk. Blood vitamin C levels were found
to be low(0.15 mg/dl)(Normal range-0.20-2.00mg/dl)
Vitamin C levels were administered which showed
dramatic improvement in the symptoms.
ANSWER THE FOLLOWING:
a. What is the most probable diagnosis?
b. What is the reason of bleeding gum in this
person? Explain the role of Vitamin C in the
synthesis of collagen.
c. Write 2 dietary sources rich in vitamin C
d. What is the treatment advised in this case?
ANSWERS:
a. Scurvy vitamin C deficiency
b. Vitamin C deficiency leads to abnormal collagen
formation. So, capillaries become fragile leading
to tendency to bleed when even under slight
pressure.
Vitamin c is required for conversion of
procollagen to active collagen.
c. Citrus fruit, gooseberry, guava.
d. Vitamin C supplement-RDA-60-75mg.
Along with fresh fruits and vegetables.
6. A 50 years old alcoholic came with complaints of
joint pain, on examination the joints were swollen and x
ray of joint showed tophi. The serum uric acid level was
high.
ANSWER THE FOLLOWING:
 a. What is the diagnosis?
b. What is the cause of the disease?
c. What are tophi?
d. What is Lesch Nyhan syndrome?
e. What is Chargaff’s rule.
ANSWERS:
a. Gouty arthritis
b. It is due to accumulation of urate crystals (due to
purine metabolism disorder) in the synovial fluid.
c. Tophi is accumulation of urate crystals in
synovial fluid, at 30*C the solubility of uric acid
is lowered to 4.5mg/dL. Therefore, uric acid is
deposited in the cooler areas of the body.
d. Lesch Nyhan syndrome is due to deficiency of
HGPRT enzyme in purine salvage pathway, there
will be accumulation of PRPP and decreased
level of inhibitory purine nucleotides.
Characterized by self-mutilation, mental
retardation, nephrolithiasis.
e. CHARGAFF’S RULE: states that number of
purines is equal to number of pyrimidines. A with
T,G with C.
7. 55 years old man was brought to hospital in a
confused and semiconscious state. He had low BP and
feeble pulse. His breath had fruity odor. Laboratory
findings as follows.
Parameters Results Reference range
Random blood 520mg/dl 70-100mg/dl
sugar
Blood urea 40mg/dl 15-40mg/dl
Sr.Creatinine 1.5mg/dl 0.5-0.7mg/dl
Urine sugar 4+ negative
Urine ketone positive negative
bodies
Blood pH 7.1 7.35-7.45
ANSWER THE FOLLOWING:
a. What is the probable diagnosis?
b. Explain the presence of ketone bodies in urine.
c. What is the treatment for this disease?
d. Which test is used to detect ketone bodies in
the urine?
ANSWERS:
a. Diabetic Ketoacidosis
b. It is due to overproduction of ketones leads to
ketonemia and ketonuria.
c. Administration of insulin
d. Rothera’s test
8. A 55-year-old man was brought to the hospital with
severe chest pain, breathlessness and vomiting. He
could be rushed to the hospital 5 hours after the onset of
chest pain. His blood was immediately drawn, and the
lab data are given below.
Parameters Results Reference Range
CPK(Total) 600 IU/L 50-200 IU
CPK(MB) 110 IU/L 5-26 IU/L
AST 85 IU/L 10-50 IU/L
LDH 315 IU/L 50-200 IU/L

ANSWER THE FOLLOWING:

a. What is the probable diagnosis?
b. Why CPK(MB) is increased?
c. What is the time course elevation of CPK-MB
in this patient?
ANSWERS:
a. Myocardial Infarction
b. Creatinine Kinase (CPK-MB) is an isoenzyme
of CK that is most abundant in heart tissue,
that’s why it is increased in MI.
c. CPK starts to increases within 3 hours of
infarction, reaches the peak in 36 hours and
lower backs to normal level within 3 days.

9.A 30-year-old woman married five years ago had no

children. She complained of tiredness, weight gain, cold
intolerance, neuromuscular pain and constipation. She
was found to be anemic. Her laboratory data are as
follows.
Parameter Observed Values Reference Range
Total T3 0.51ng/ml 0.69-2.15ng/ml
Total T4 38 ng/ml 52-127ng/ml
TSH 180micro IU/ml 0.3-4.5micro
IU/ml
Total Cholesterol 250mg/dl 140-200mg/dl

ANSWER THE FOLLOWING:

a. What is your diagnosis?
b. Why TSH level is increased?
c. Why cholesterol level is increased?
d. Functions of Thyroid hormones.
ANSWERS:
a. Hypothyroidism
b. TSH level increases by negative feedback
mechanism to increase the secretion of thyroid
gland. (T3,T4)
c. The receptor for HDL is decreased as a result
of which there is no reverse cholesterol and
decreased digestion of cholesterol leads to
hypercholesteremia.
d. Regulation of metabolism, maintain fertility,
body temperature and for brain development.
10.A 3-day preterm male baby had yellow coloration of
the sclera of the eyes. His urine was also found to be
yellow in color. Laboratory investigations are as
follows.
Parameters in Results Reference Range
serum
Total bilirubin 18.0mh/dl 0.2-1.0mg/dl
Direct bilirubin 1.5mg/dl 0-4 mg/dl
Indirect bilirubin 16.5mg/dl 0-6mg/dl
The pediatrician advised phototherapy for the baby.
After 10 days again advised lab investigation.
Total bilirubin 0.6mg/dl 0.2-1.0 mg/dl
Direct bilirubin 0.3 mg/dl 0-4 mg/dl
Indirect bilirubin 0.3mg/dl 0-6mg/dl
ANSWER THE FOLLOWING:
a. What is the most likely diagnosis?
b. Why indirect bilirubin level is high?
c. What is the effect of phototherapy?
ANSWERS:
a. Neonatal jaundice
b. This is due to increased hemolysis, coupled
with immature hepatic system for the uptake of
bilirubin for conjugation and secretion. The
activity of enzyme UDP-glucoronyl transferase
is low in new born.
c. The effect of phototherapy is the toxic
bilirubin is converted into less toxic by
exposure to 400-500nm blue light. Photo
bilirubins are easily excreted from the body.