clinical cases spotters for mbbs students

Clinical spotters for MBBS students covering amino acid disorders carbohydrate metabolic disorders
vitamin deficiency disorders and mineral metabolism disorders

1. Clinical cases Dr.S.Sethupathy , M.D,Ph.D , Professor and Head, Dept.of Biochemistry, SVMCH&RC, Puducherry

2. Bilateral cataract Galactosemia Galactose 1- Phosphate uridyl transferase deficiency Normal eye

3. Glucose -6-phosphate dehydrogenase (G6PD)enzyme deficiency RBCS get damaged and cause hemolysis

4. Von Gierke’s disease (Type 1 glycogen storage disease) Doll like face, Hepatomegaly, Fasting hypoglycemia Glucose -6 –phosphatase enzyme deficiency

5. Tendinous xanthoma and xanthelasma palpebrarum Familial hypercholesterolemia , LDL receptor deficiency Normal ankle region Normal face xanthelasma palpebrarum

6. Refsum’s disease Defective α-oxidation due to the deficiency of phytanic acid α -hydroxylase (AR), elevated serum phytanic acid and VLCFA, fourth toes are smaller, dry skin, MR, hepatomegaly, cerebellar ataxia , deafness.

7. Phenylketonuria Deficiency of Phenylalanine hydroxylase Hypopigmentation due to lack of tyrosine for melanin synthesis Hypopigmentation of skin Normal skin ,hair color Ferric chloride test positive Greenish blue appearance

8. Albinism Tyrosinase deficiency

9. Hartnup’s disease Impaired transport of neutral amino acids in the intestinal mucosa and renal tubules resulting in the loss of tryptophan. Since niacin is synthesized from tryptophan , niacin deficiency occurs and results in pellagra like features. Dermatitis, dementia and diarrhea. Urine Obermeyer test – positive for Hartnup’s disease ( Due to indole compounds excretion)- Dermatitis in the sunlight exposed areas

10. Homocystinuria - Deficiency of Cystathionine - β synthase Subluxation of lens, bone deformities (Charlie Chaplin Gait), Thrombosis, increased risk for heart disease, Mental retardation Urine cyanide nitroprusside test positive

11. Alkaptonuria- Deficiency of homogentisate oxidase Urine on standing for a few hours, becomes black . Benedict’s test – Black precipitate is formed. Homogentisic acid gets polymerized to alkapton bodies which gets deposited as black bodies in various tissues such as skin, ear lobes, sclera , tendons resulting in black color. This condition is called Ochronosis.

12. Lesch Nyhan syndrome It is X-linked , Deficiency of Hypoxanthine- guaninephosphoribosyl transferase ( HGPRTase ) Self mutilation, spastic paresis, athetosis and hyperuricemia

13. Myocardial infarction Increase of serum troponin T, Troponin I, Creatine kinase-MB, AST and ECG changes

14. Acute pancreatitis Increase of serum amylase and serum lipase

15. Scurvy Bleeding gums, defective collagen synthesis, petechial hemorrhage (Small multiple bleeding spots seen , in the skin, mucous membrane), hemarthrosis (Bleeding in to the joint cavity) Vitamin C is the coenzyme for prolyl and lysyl hydroxylase enzyme involved in the synthesis of collagen.

16. Thiamine deficiency – Beri Beri Wet beri beri - cardiovascular manifestations- edema, heart failure Dry beri beri - Neurological manifestations- Seizures, mental state changes, cranial nerve palsy RBC Transketolase activity – decreased in thiamine deficiency

17. Riboflavin deficiency Cheilosis - angular stomatitis, magenta tongue Corners of the mouth get cracked, inflamed. Tongue inflamed

18. Folic acid deficiency Macrocytic , megaloblastic anemia. Defective RBC maturation . It has only hematological manifestations.

19. B12 deficiency- Pernicious anemia Both macrocytic anemia and neurological manifestations

20. Iron deficiency anemia Microcytic,hypochromic anemia

21. Tetany - Hypocalcemia Trousseau’s sign Carpopedal spasm) on compression of the upper arm by blood pressure cuff. Chvostek sign When the facial nerve is tapped in front of the ear, the facial muscles on the same side of the face will contract sporadically (called ipsilateral facial spasm). The muscles that control the nose, lips and eyebrows are often the ones that will spasm.

22. Dental fluorosis

23. Skeletal fluorosis Chalky white bones , weak bones

24. Kwashiorkor

25. Marasmus and kwashiorkor

26. Wilson’s disease Deficiency of copper binding ATPase Kayser –Fleischer ring (KF ring)are dark circles at the periphery of the cornea Serum ceruloplasmin is decreased

27. Goiter – Iodine deficiency – Hypothyroidism Goiter- Enlargement of thyroid gland

28. Hyperthyroidism Exophthalmos –Protrusion of the eye balls. Sclera all around cornea is seen.

29. Sickle cell anemia Hemoglobin S- Beta 6- Glutamic acid is replaced by valine, Deoxy state – sickling occurs

30. HbS , HbA , HbS trait

31. Marfan syndrome autosomal dominant disorder FBN1 gene on chromosome 15 mutation- FBN1 encodes fibrillin It is essential for the formation of elastic fibers found in connective tissue.

32. Gout due to hyperuricemia Deposition of the urate crystals in the joints Causes- Primary - Hyperactivity of PRPP synthetase, Lesch Nyhan syndrome, Von Gierke’s disease Secondary- Renal failure

33. Rickets – Vitamin D deficiency

34. Rickets treatment with Vitamin D and adequate calcium

35. Vitamin A deficiency

36. Pellagra - Niacin deficiency Dementia, dermatitis, diarrhea Dermatitis in the sunlight exposed areas

37. Serum protein electrophoretic pattern Normal

38. Serum protein electrophoretic pattern – Normal profile

39. Serum protein electrophoretic pattern-Multiple myeloma (M band in the gamma region)

40. Serum protein electrophoretic pattern- Nephrotic syndrome Alpha 2 increased

41. Cherry red spot-Niemann pick disease – Sphingomyelinase deficiency

42. Thank you