3. METHODS
3.1 Investigation:-
Baseline Investigations on readmission were normal with TLC 8670 N30
L58, Hb/Hct: 8.6/26%, MCV/MCH/MCHC: 64/20/32, Platelet: 2,32,000.
Urinalysis was normal and Urine for ketone bodies was negative. Venous
blood gas analysis was also normal. His calcium was 8.5 mg/dl and
magnesium was 2.2 mg/dl. This time we convinced the parents to go for a
genetic test which unfortunately turned out to be positive for Gaucher
disease type III.
3.2 Treatment and follow up:-
Anemia was managed with iron, parents were counselled regarding the
nature of the disease, treatment options and possible complications and
management. Child