Thursday, February 19, 2015

Short Case with Dr. Kuan

Patient 1

A middle-aged Indian man with unilateral ptosis and eye divergence.

1. Your differential diagnosis?
+ Partial third nerve palsy
+ Horner's syndrome
+ Myasthenia gravis
+ Congenital ptosis

2. How do you proceed with the examination?
+ First, inspect the patient's eyes. This patient has ptosis and divergence.
+ Second, check pupils. This patient's pupils are normal.
+ Then, check eye movements. Do H Test. This patient has vertical gaze palsy.
Exclude other differentials. Test anyhydrosis - put back of palms on patient's forehead. Check enophthalmos. Check fatigability - ask patient to look up and down repeatedly.

Taken from UM X'Press

3. What do you know about third nerve palsy? Taken from this website
It can be medical or surgical third nerve palsy. If pupil is spared - medical. If pupil is fixed and dilated - surgical. Classic presentation : ptosis, dilated pupil and 'down and out' pupil.

Causes of third nerve palsy
  • Diabetes (75% pupil-sparing)
  • Temporal arteritis
  • SLE
  • MS
  • Cavernous sinus thrombosis
  • Amyloid
  • Posterior communicating (PCOM) aneurysm - usually painful
  • Tumour

Patient 2

Thin build adult man on face mask, looked tired and in pain. He was on IV Tazocin and iron chelator infusion pump. No obvious Thalassemic facies noted such as frontal bossing, prominent malar eminence, malocclusion of teeth, interdigital separation of teeth, prominent maxilla. Greyish colour of skin noted. His abdomen was distended with fullness of flanks. 

Abdomen examination showed a midline splenectomy scar. Hepatomegaly present 5cm below costal margin.

Complete examination by examining thyroid, cardiovascular and peripheral neuropathy as complications of iron overload such as hypothyroidism, cardiomyopathy, hyperglycemia.

1. What should you give to patients who had undergone splenectomy?
+ Triple vaccinations - pneumococcal, meningococcal, Hib vaccine
+ Lifelong antibiotics

2. Long term advice to patients?
  • Patient education and need for blood transfusion
  • Complications of thalassemia such as iron overload causing end-organ damage, endocrinopathies, transfusion-related infection, growth retardation, osteoporosis
  • Family screening
  • Genetic counselling

3. How the trait is passed on to children?
If major marries normal, 4 out of 4 will have trait.
If minor marries normal, 2 out of 4 will have trait.
If minor marries minor, 1 out of 4 will have major!

Thats why we need genetic counselling because the disease is preventable.
Taken from this website

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