Genetics disorders

Medical Case Studies

Solving cases of genetic disorders

Health Sciences integration with Biology classes
Cases prepared by: Patil Maradian, PharmD

Case 1

A 5-year-old boy presents to the Emeregency department:

Presenting Symptoms:

• Persistent cough with thick mucus production

• Frequent lung infections

• Failure to thrive (underweight for age)

• Salty-tasting skin

• History: Family history of lung disease or failure to thrive? Any sibling with similar symptoms?

• Physical Examination: Focus on respiratory system, growth patterns, and signs of malnutrition.

Step-by-Step Solution

• Diagnostic Workup:

  • Sweat Chloride Test: A gold standard for diagnosing cystic fibrosis.

  • Genetic Testing: Confirm the diagnosis by identifying mutations in the CFTR gene.

  • Chest X-Ray/CT Scan: To evaluate the extent of lung damage.

  • Pulmonary Function Tests: Assess the degree of lung impairment.

Word Cloud

What is the diagnosis of the patient?

Poll

Is there a cure for cystic fibrosis?

• Yes

• No

Treatment

• Chest physiotherapy

• Medication

• Enzyme supplements
  

Multiple Choice

Cystic Fibrosis is _____ genetic disorder.

• dominant

• recessive

Multiple Choice

What is the chance of the parents to have another child with Cystic Fibrosis?

• 0%

• 25%

• 50%

• 100%

Case 2

A 45-year-old patient presents to the clinic with:

• Progressive involuntary movements (chorea)

• Difficulty with balance and coordination

• Personality changes, including irritability and depression

• Memory problems

• Slurred speech and difficulty swallowing (dysphagia)

Step-by-Step Solution

• Family history reveals that the patient’s father died from complications of Huntington’s disease (HD) in his late 50s.

• The patient began experiencing changes in motor skills and mood around age 40.

  Physical Examination:

• Involuntary jerking

• Diminished fine motor skills

​History

​

Diagnostic Workup:

• Neurological Evaluation:

  • Testing reflexes, muscle strength, coordination, and balance.

  • Cognitive and psychiatric evaluation to assess mental status

• Genetic Testing:

  • Confirmation through genetic testing for the HTT gene

• Brain Imaging:

  • MRI/CT Scan

Multiple Choice

Huntington's is _____ genetic disorder.

• dominant

• recessive

Multiple Choice

What is the chance for someone who has Huntigton's to have a child with Huntington's?

• 0%

• 25%

• 50%

• 100%

Multiple Choice

What is the condition of Peter Dinklage called?

• Cystic Fibrosis

• Achondroplasia

• Huntington's

• Albinism

Multiple Choice

What condition does the person in the picture probably have?

• Cystic Fibrosis

• Achondroplasia

• Huntington's

• Albinism