ABSTRACT
A 2-month-old infant presents to the A&E Department with a recent onset of lethargy and irritability. She has been breastfed normally, although she received mixed fruit juice on the day of admission, when she was staying with a family friend. She is vomiting intermittently on admission. Investigations reveal:
Blood glucose 1.3 mmol/l pH 7.2 kPa HCO-3 12 kPa U 4.6 mmol/l Cr 28 μmol/l Lactate 6.2 mmol/l Urine Glycosuria, aminoaciduria and proteinurea Non-glucose reducing substances in urine by Clinitest
1. What is the probable diagnosis? a. UTI b. Inborn error of metabolism c. Pyloric stenosis d. Hypothyroidism e. Nesidioblastosis
2. How would you confirm the diagnosis? a. Serum amino acids b. MSU c. Abdominal ultrasound d. Thyroid function test e. Liver biopsy
A 2-year-old girl is referred with poor weight gain and a history of intermittent vomiting. There is no history of diarrhoea or abdominal pain. Abdominal US, CXR and barium swallow are normal.
