14/08/17, Daily assessment.

1. You have been managing a twelve year old boy since age seven month, when he presented with history of progressive abdominal  distention , passage of large bulky stool and low weight of four kilograms, he developed  inability to make smooth coordinated movements at age ten.
Parents have no such history.
The peripheral blood film of this boy revealed numerous Acanthocytes.
Which of the following conclusions is/are correct?

(a) The boy may have retinal degeneration.
(B)  This condition is inherited as autosomal dominant.
(C) ricket is an early finding in this condition.
(d) Supplementation  with vitamin E may cure this condition.
(e)  This boy has hypobetalipoproteinaemia.

2. A  4 week old boy being managed by your resident doctors on outpatient basis for an extensive macular rash involving the scalp,  face and the trunk,was noticed to have irregular heart rate, the maternal immunoglobin profile obtained during pregnancy showed elevated anti la antibodies.
Which of the following  conclusions may be right?

(a)  This rash typically last three to four months.
(b) majority of patients with this condition develop progressive cardiomyopathy.
(c) The cardiac arrythmias  in this condition are permanent.
d) This rash is photosensitive.
(e) most feared complication of this condition is hepatitis.

3. expected findings in kwashiorkor include the following:

(a) increase cortisol and growth hormones level.
b)  increase thyroid stimulating hormone level.
(c) high plasma ferritin level.
(d) blood transfusion is indicated for persistent lack of appetite.
(e)  Apathy.

4. A 12yr old boy with recurrent passage of bloody urine since age four has now developed deafness, opthalmogical examination shows extrusion of the lens,  you make the following conclusions :

a)  anterior lenticonus is a pathognomonic feature of this condition.
b)  This patient is at risk of nephrotic syndrome.
C)  This condition can be inherited as autosomal dominant.
D)  The deafness in this condition is acquired.
E)  This condition  occurs as a result of defect in Type one collagen.

5. A two  year old girl whose mother is a vegan present with recurrent ulcer on the lips and tongue, you suspect the patient condition is due to :

a)  lack of enough calorie intake.
b) vitamin B1 deficiency.
c)  vitamin B5 deficiency.
d)  vitamin C deficiency.
e)  vitamin B12 deficiency.

Oral question:

A two year old boy who left the hospital  against medical advice while on chemotherapy  for retinoblastoma because the parent believed the eye swelling was due to spiritual attack,  presented last night with several episodes of convulsions and loss of consciousness  of about forty-five hours, the Glasgow coma score of three,  absent cornea reflex and  dilated and fixed pupils.

 1) what is your diagnosis?
ii) list Five confounders in making this diagnosis.
iii) mention three other reflexes that are likely to be absent.
iv ) mention two investigations that will enable a definitive diagnosis.
v)  describe  apnea  test?