Zellweger Syndrome Phrynoderma, Atherosclerosis, Lipid Storage Disorders Case Studies

Zellweger Syndrome, Phrynoderma

Zellweger Syndrome

1. It is characterized by the absence of functional peroxisomes.
2. Oxidation of long-chain fatty acids is affected, leading to their accumulation in the liver, brain, and kidneys.
3. Also known as cerebrohepatorenal syndrome.
4. Symptoms- Neurological deficits, loss of muscle tone (hypotonia), hearing loss, vision problems, liver dysfunction, kidney dysfunction

Read And Learn More: Biochemistry Clinical Case Studies With Answers

Phrynoderma or Toad Skin

1. Clinical features– Presence of horny eruptions on the skin, involving limbs, back, and buttocks, loss of hair, and poor wound healing.
2. It is caused by a deficiency of essential fatty acids.
3. EFA– linoleic acid, linolenic acid and arachidonic acid

Atherosclerosis Case Study

• Atherosclerosis: The narrowing of the arterial lumen due to the deposition of plaque is known as atherosclerosis.
• Atherosclerosis Risk Factors: Old age, high cholesterol level, hypertension, DM, smoking, family history, etc.
• Atherosclerosis Laboratory Tests: Lipid profile– total cholesterol, TG, HDL, LDL, VLDL, plasma homocysteine level, lipoprotein(a).
• Atherosclerosis Complications: Coronary artery diseases, peripheral vascular diseases, etc.

Atherosclerosis Prevention and Management

1. Avoid smoking.
2. Healthy lifestyle.
3. Diet modifications– reduce dietary cholesterol, moderate fat intake, vegetable oil, and PUFA consumption, increase dietary fibers, and avoid trans-fatty acids.
4. Maintain a normal weight.
5. Medications– statins, anti-hypertensive, anti-diabetic, etc.

Case 1: Hypertension And Diabetes

A 56-year-old man visited the physician, he tells that his friend has recently suffered from MI and he is worried about himself. His family history was positive for hypertension and diabetes. He has been smoking for the last 20 years. His BMI was 31, BP- 120/80 mmHg.

Question 1. Do you think he has a risk of atherosclerosis?
Answer:

Yes.

Enumerate the risk factors.

1. Stress.
2. Obesity.
3. Smoking.
4. Family h/o DM and HT.

Question 2. What advice should be given to the patient?
Answer:

1. Quit smoking.
2. Weight reduction.
3. Regular physical activity.
4. Regular follow-up.

Lipid Storage Disorders

Gaucher’s Disease: It is one of the most common lysosomal storage diseases. It is caused by a deficiency of β- glucosidase. Glucocerebrosides accumulate in the spleen, liver, and bone marrow.

Gaucher’s Disease Symptoms: Hepatosplenomegaly, bone pain and easy fractures of bones, anemia, fatigue, bleeding and bruising problems

Gaucher’s Disease Treatment: Enzyme replacement therapy and substrate reduction therapy

Case 1: Hepatosplenomegaly

A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. On examination, hepatosplenomegaly was noted. A liver biopsy demonstrated Goucher cells. Investigation revealed a low level of leukocyte β-glucosidase activity and thrombocytopenia.

Question 1. What is a probable diagnosis?
Answer:  Goucher’s disease.