As a junior doctor at a pediatric clinic, your next patient is a 4-year-old boy who appears agitated and tearful. His mother reports that he has been eating less than usual for the past few days. During your examination, you observe numerous blisters on his palms and around his lips. Additionally, he has a fever. What is the best course of action based on the probable diagnosis?
A parent brings their 3-week-old girl, who was diagnosed prenatally with Down’s syndrome, to hospital. She has been feeding poorly and has been constipated.
On examination, her abdomen is distended.
A colonic biopsy shows absence of ganglion cells in the submucosa.
What is the initial management for this condition?
A 33-year-old mother, gravida 4, arrives in labor without any prenatal care. During delivery, the infant is born with the intestines protruding from the abdomen, but there is a peritoneal covering safeguarding it. What is the best approach to managing the protruding bowel?
You are in a genetics clinic and explaining to a couple the reason why their daughter has Prader-Willi syndrome. What is the term used to describe the mode of inheritance for Prader-Willi syndrome?
A 5-year-old girl is brought to the GP by her mother for an asthma review. She was diagnosed with asthma eight months ago. Since then, she has been using a low-dose clenil (beclomethasone 100 μg BD) inhaler and salbutamol inhaler as needed, both inhaled via a spacer. She has been experiencing a nocturnal cough and has been using her salbutamol inhaler 3–4 times per day due to the cold weather, with good results. On examination, there are no signs of respiratory distress, her oxygen saturation is 98%, and her chest is clear.
What would be the next step in managing this patient?
A 38-week-old neonate has been born with an abdominal defect described as 7 cm of herniated bowel through the abdominal wall. The bowel is exposed without a covering. The patient is hypotensive (50/30), tachycardic (220 bpm) and hypothermic (35.2 °C). Bloods were taken, which showed the following:
Investigation Result Normal value
Haemoglobin 190 g/l Female: 115–155 g/l
Male: 135–175 g/l
White cell count 30 × 109/l 4–11 × 109/l
C-reactive protein (CRP) 25 mg/l 0–10 mg/l
What is the most appropriate management?
A 31-year-old woman expresses a concern during her booking appointment that is forwarded to the obstetrician. She discloses that her previous child was born with a congenital defect and inquires if any action needs to be taken during her current pregnancy. Upon reviewing the notes from her previous pregnancy, the obstetrician notes that the neonate had a left subclavicular thrill, a heaving apex beat, and a continuous ‘machinery-like’ murmur.
What is the appropriate course of action for managing this defect?
A 5-year-old girl is brought to the emergency department by her mother. Her mother noticed her face twitching and mouth drooling while trying to wake her up this morning. The episode lasted for 30 seconds and the girl was fully aware of what was happening. The girl has been feeling drowsy and confused for the past 15 minutes. She has been healthy and has no medical conditions. Her mother is concerned that she has been staying up late for the past few nights, which may have contributed to her fatigue. What is the most probable diagnosis?
A 6-month-old infant is scheduled for routine immunisations. All recommended immunisations have been administered so far. What vaccinations should be given at this point?
Johnny, a 5-year-old boy, has been brought to the doctor due to delayed speech development. What factors could increase his likelihood of developing autistic spectrum disorder?