You are evaluating a young patient in primary care who has a significant family history of multiple endocrine neoplasia type 1. Although genetic testing has confirmed an abnormal genetic profile, the patient has not yet presented with any clinical manifestations of the condition. What is the genetic term used to describe conditions where the genotype is abnormal, but the phenotype remains normal?
A 6-year-old boy comes to the pediatrician’s office as his parents are concerned about his early development. He is now a lot taller than most of his friends and he has started to develop hair around his genitalia and armpits. On examination, his penis is also large for his age however his testes remain prepubertal. Which of the following is the most likely cause of this boy’s precocious puberty?
A 7-year-old girl visits her GP clinic with her mother who is worried about her continued bedwetting at night. They had visited the clinic 4 weeks ago and have seen no improvement despite following general management advice and a basic reward system. The girl is healthy otherwise and has no history of constipation or daytime incontinence. She does not complain of any issues at home or school. Physical examination reveals no abnormalities.
What additional treatment options would you suggest for her?
A 3-day-old baby boy is experiencing cyanosis during feeding and crying, leading to suspicion of congenital heart disease. What could be the probable reason?
Sophie is a premature baby (28 weeks) who was born 3 weeks ago. During the past week, she has been experiencing bloody stools, abdominal distension, and poor feeding. Upon physical examination, there is an increase in abdominal size with decreased bowel sounds. An abdominal X-ray reveals asymmetrical bowel loops that are dilated and have bowel wall oedema. What is the probable diagnosis?
A mother brings her 10-month-old baby to the doctor because of a diaper rash. During the examination, the doctor observes a red rash with flexural sparing. What is the probable reason for this?
A 12-month-old boy is brought into morning surgery by a concerned first-time mother. She reports several episodes of her baby crying inconsolably and drawing his legs towards his chest since last night. Today he passed some bright red jelly-like blood in his nappy without any stool.
Which of the following is the likely cause?
A 5-year-old girl is seen in the Paediatric Admissions Unit with a fever lasting for a week. During examination, she presents with red, painful lips and conjunctival injection. Additionally, her hands are swollen and red. Blood tests reveal the following results: Hb 13.1 g/dl, WBC 12.7 *109/l, Platelets 520 *109/l, and CRP 96 mg/L. What is the probable diagnosis?
You assess a neonate who is 2 hours old and was delivered via caesarean section. The mother had an elective caesarean section at 38-weeks due to an active herpes infection. During examination, the infant has a respiratory rate of 62 breaths per minute. A chest x-ray reveals hyperinflation and fluid in the horizontal fissure. What would be your management plan for this patient, considering the probable diagnosis?
A newborn boy is born via emergency caesarean section at 42 weeks and 5 days due to fetal tachycardia and thick meconium-stained amniotic fluid. The mother received intrapartum antibiotics as she was known to be colonized with group B streptococcus. The infant presents with cyanosis, tachypnea, and chest wall retraction. A chest X-ray reveals patchy infiltrates and atelectasis. What is the probable diagnosis?