A 13-year-old girl visits her GP with worries about not having started her periods yet, unlike her peers. During the examination, the GP notes that she is 143cm tall and has several melanocytic naevi on her arms. She also holds her arms at a wide carrying angle when at rest. There is no relevant family history and her cardiovascular examination is normal. What is the probable diagnosis?
A 10-year-old boy is seen in the paediatric clinic for a follow-up appointment. His standing height is below the 0.4th centile, while his sitting height is on the 9th centile. These measurements have been consistent with their respective centiles for the past three years. What genetic diagnosis is most probable for this boy?
A 16-year-old girl visits her doctor with primary amenorrhoea and cyclical abdominal pain. The patient has normal secondary sexual characteristics on examination.
What is the probable cause of her absence of menstrual periods?
A 4-week-old boy has been experiencing vomiting after feeds. His mother reports that he is extremely hungry, but shortly after consuming food, he has an episode of projectile vomiting. The vomit does not contain blood, bile or feces. Upon examination, a mass is detected in the epigastrium that is approximately the size of a small grape.
What is the most probable diagnosis?
A concerned mother visits her GP to discuss her 8-week-old baby. She is worried as he is not feeding well, his urine has a musty smell and he has very dry skin all over his trunk, which is not responding to regular emollients. On examination, the baby’s weight has dropped from the 25th to the 9th centile, he has a mild tremor and his trunk is covered in an eczema-like rash. Her older son has an inborn error of metabolism and she is concerned this baby may also be affected.
Which of the following is a disorder of amino acid metabolism?
A 5-year-old girl is brought to the GP by her mother, who reports that the child has been feeling unwell for the past day. The mother explains that the girl has a fever and has not been eating properly. The child has no significant medical history. Upon examination, the child appears pale and flushed. There is a widespread maculopapular rash on her chest and back, and small white papules are visible on the inside of her cheeks.
What is the most common complication associated with the likely diagnosis?
A 3-year-old child is brought to the paediatric emergency department with symptoms of malaise, rash, vomiting and fever. The mother reports that the child has not been eating well for the past day and has been running a low-grade temperature. Additionally, the mother points out a partial thickness burn on the child’s arm that has been treated with dressings by their GP. What is the probable diagnosis?
A 2-year-old presents with a 5-day history of high fever and coryza. His parents bring him to clinic with a rash that started today on his chest and has now spread to his arms. He has been off his food for the last 48 hours, but his fever has settled. On examination, he is apyrexial. Other vital signs are normal. He is alert and responsive. He has cervical lymphadenopathy, with enlarged red tonsils but no pus. Both tympanic membranes are slightly pink. His chest is clear. He has a pink blanching maculopapular rash to his torso and arms.
What is the diagnosis?
You are tasked with conducting a neonatal examination for a 39-week gestation infant born to South Asian parents. The parents have plans to visit Bangladesh within the next 5 months to visit family. Apart from the routine vaccinations recommended for all UK children on the immunisation schedule, are there any other vaccines you would suggest for their baby?
A 6-day-old baby boy is brought into the Emergency Department by his parents due to his projectile vomiting and failure to thrive. You arrange a blood gas reading.
What is the metabolic disorder likely to develop in this patient?