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 Best of Five 125

 

   

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BOF: 125

A 22-year-old female presents with severe colicky abdominal pain, vomiting and constipation of 3 days duration.  She had a previous history of admission to hospital with similar features.

She was admitted under the care of a surgical team who did not find any specific abnormality on examination. Her abdominal x-ray and ultrasound scan were normal. She was treated with antibiotics, analgesics and antiemetics. She developed urinary retention and was catheterised. It was noticed that her urine was discoloured but this was thought to be due to trauma. Whilst in ward she developed two tonic- clonic seizures.  You are asked to see the patient and after taking these features into account you make a diagnosis.

The patientís father wishes to know how this condition is inherited and your answer is:

a)      Autosomal recessive

b)      Autosomal dominant

c)      X-linked recessive

d)      Polygenic inheritance

e)      Not an inherited disease

 

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