Case based discussion-

Carbohydrate metabolism & Water

soluble Vitamins
 Case 1

• A 5 year old boy was brought to the hospital with the complaint of swelling in the
abdomen. On examination, liver was found to be enlarged (hepatomegaly), blood
examination showed hypoglycemia, hyperuricemia, hyperlipidemia, lactic
acidosis, and ketoacidosis. Fasting hypoglycemia does not respond to stimulation
by adrenaline.
• What is your probable diagnosis?
 Glycogen Storage Disease Type I (GSDI) ,
also called von Gierke disease

03/30/2024
 Case 2
A 20-year-old person is brought to the emergency department with abdominal pain,
nausea, and vomiting ,He gives H/o polyuria, polydipsia, and drowsiness since the
previous day. He was diagnosed with type 1 diabetes 2 years back. He mentions that he
ran out of insulin 2 days ago. Vital signs at admission are: BP 106/67 mmHg, heart rate
123 beats per minute, respiratory rate 32 breaths per minute, temperature 37.1°C
(98.8°F).
On mental status examination, he is drowsy. Physical examination reveals Kussmaul
breathing with acetone odour and mild generalised abdominal tenderness. His laboratory
investigations are as follows
Blood glucose - 650 mg/dl, serum ketones - strongly positive
Urine: Benedict’s test – positive, Rothera’s test – Positive,
ABG: Arterial pH - 7.24, PCO2 -25 mmHg, bicarbonate - 12 mEq/L
What is your probable diagnosis?

03/30/2024
 Diabetic ketoacidosis

03/30/2024
 Case 3

A 2 month old baby was brought to the pediatrician with complaints

of vomiting after each feed.Mother gave history of failure to
gainweight and frequent diarrhea for the past 1 month.On physical
examination,child had jaundice and cataract. Urine Benedict's test
was positive and glucose oxidase test was negative
What is your probable diagnosis?

03/30/2024
 Galactosemia

03/30/2024
 Case 4
A 10 month old previously healthy male baby was brought to emergency clinic with
complaints of vomiting, episode of seizure and lethargy after feeding fruit juice. He
was introduced to solid food in addition to breast feeding 4 months before. The child
was found to vomit whenever any fruit was given. Biochemical reports showed a
blood sugar of 40 mg/dl. His liver enzymes were elevated.
What is the probable diagnosis.

03/30/2024
 Hereditary fructose intolerance

03/30/2024
 Case 5
A 65 year old man with history of diabetes for 6 years comes to
medicine OPD for review.Physical examination revealed a
height of 5 feet 2 inches, weight of 178 lb (body mass index
[BMI] of 32.6 kg/m 2 ), blood pressure of 150/88 mm Hg, and pulse
of 80/min. Laboratory evaluation showed HbA1c of 10.4 %, fasting
plasma glucose of 167 mg/dl. Urinalysis
revealed 3+ glucose and micro albumin of 46mg .
What is your probable diagnosis?

03/30/2024
 A case of Type 2 Diabetes mellitus

03/30/2024
 Case 6

What is your probable diagnosis?

03/30/2024
 A case of Hurler's syndrome

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 Case 7

• A newborn had excessive cry, Severe abdominal distension, diarrhea

after breastfeeding. Otherwise baby is active. Mother observed these
symptoms for 5 days and then brought the baby to pediatricion. He
suggested to start lactose free formula. Following which baby did not
have these symptoms.
• A.Based on symptoms and treatment given what is your probable
diagnosis ?

03/30/2024
 A case of Lactose intolerance

03/30/2024
 Case 8

• A 30 years old male was diagnosed with malaria and he was treated with anti
malarial drug, primaquine. During the treatment, he developed signs of anemia.
Laboratory tests indicated reduced hemoglobin levels and increased levels of
serum Bilirubin.
• What is your probable diagnosis?

03/30/2024
 G6PD deficiency induced hemolytic anemia

03/30/2024
 Case 9

• A 20 year old female, strict vegetarian came to the medicine OPD with
C/O weakness. Past history suggestive of diseases of ileum is present.
Physical examination revealed pallor and laboratory investigation
showed Hb 8.9g%and large immature RBCs in peripheral smear.What
is your probabale diagnosis?

03/30/2024
 Vitamin B12 deficiency

03/30/2024
 Case 10

• A 26 year old female from low socio economic status delivered a baby through
Cesarean section. The pregnancy was unplanned and the mother did not take the
required nutrients during the course of the pregnancy. Birth weight was 3.41 Kg.
The physical examination revealed a swelling was located over the nape of the
neck. Investigations were as follows.
Hemoglobin-8g%
Iron and vitamin D –normal
What is your probable diagnosis?

03/30/2024
 Neural tube defcts

03/30/2024
 Case 11

• A 17-year-old adolescent boy presents to your evening clinic complaining of

generalized weakness. He tells you that he had run away from home a year ago
and has been living on the streets. On further questioning, he tells you that he
has not been eating well because of his financial constraints. Physical
examination reveals multiple purpura over his body, gingival swelling with
bleeding gums, and several cuts that look poorly healed.
• What is your probable diagnosis?

03/30/2024
 A case of Scurvy

03/30/2024
 Case 12

• A 32 year old man was brought to the casualty with complaints of

altered sensorium for two days. His son mentioned that he had
muscle weakness and a staggering gait in the last week. He is a
chronic alcoholic and due to his addiction he was not having proper
food for the last few days.What is your probabale diagnosis?

03/30/2024
 A case of Wernicke-Korsakoff syndrome due to
thiamine deficiency

03/30/2024
Thank You