A 3 year old boy is brought to the emergency by his parents with worsening ataxia. They also mention that the boy’s urine has a distinct sweet odour. Further investigations reveal the presence of leucine, isoleucine and valine in the urine. What is the diagnosis?
A 4 year old girl is brought to the emergency due to fever and urinary urgency. The temperature is recorded to be 39C. Which of the following is the best investigation in this case?
A 10-year-old girl presents with a one-day history of bilious vomiting and abdominal distension. Her inflammatory markers are within normal limits. Her mother informs the physician that the girl had an operation at three days of age for malrotation. An abdominal X-ray shows several severely dilated loops of small bowel with no gas in the rectum. What is the probable diagnosis and the appropriate initial management?
A 7-year-old girl was brought to the hospital with complaints of fever. 5 days ago, she was taken to her GP with lower abdominal pain and leukocytes 3+ on urine dipstick. She was treated with trimethoprim. On examination, she is found to have a low-grade pyrexia, a CRP of 254 mg/L, and a palpable mass in the right iliac fossa. She is able to consume both solids and liquids. Based on the clinical scenario, what is the probable diagnosis and most appropriate management for this child?
A 15-year-old Afro-Caribbean boy presents with a temperature of 37.2C and acute abdominal pain. He has previously undergone a splenectomy secondary to sickle cell disease. Clinically he is jaundiced. An ultrasound scan demonstrates a common bile duct diameter of 10mm. What is the most likely diagnosis?
A 9 year old girl who has recently undergone a laparoscopic appendicectomy for a perforated appendix develops a swinging temperature of 38.8 C while on admission. What is next step in her management?
In a premature infant boy, an inguinal hernia will most likely:
You notice an umbilical hernia in a 6-week old baby. What advice would you give the parents?
What percentage of infants born with meconium Ileus have cystic fibrosis?
A 15-year-old girl presents with mild abdominal pain in the left lower quadrant for the last four months. An ultrasound scan demonstrates a 7cm simple ovarian cyst. What is the most appropriate course of action for this patient?