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 patient’s 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
