A 2-week-old infant is presented to the clinic for evaluation. The baby was delivered at 38 weeks and has been breastfeeding without any issues. The mother reports that the baby seems excessively fatigued. During the assessment, a history is obtained, and some basic observations are documented. What would be an alarming observation?
A 3-day-old baby has not passed meconium yet. Your consultant suspects Hirschsprung’s disease and asks for your initial management plan. What would be the best initial treatment for this child until a definite diagnosis is made and more specific treatment can be given?
A 14-year-old girl comes to see her GP as she has not yet started her periods. She is 150 cm tall and has a BMI of 20 kg/m². Her mother and older sister both started menarche at 13, so she is concerned about the delay. A hormone profile is performed with the following results:
Oestrogen 25 pmol/L (45 – 854)
LH (follicular phase) 50 IU/L (1-12)
FSH (follicular phase) 45 IU/L (1-9)
Antimullerian hormone (AMH) 0.2 ng/mL (0.7-3.5)
17-hydroxyprogesterone 2.0 nmol/L (1.0 – 4.5)
What is the most likely diagnosis?
A preterm baby is admitted to the hospital with signs of heart failure shortly after birth. The infant is experiencing poor feeding, excessive sweating, and fatigue, resulting in inadequate weight gain. The parents also report irritability and episodes of apnea. During the examination, a continuous machinery murmur and bounding peripheral pulses are detected. An echocardiogram reveals left ventricular enlargement and a shunt between two of the great vessels, indicating a possible patent ductus arteriosus (PDA). What non-surgical intervention can be utilized to manage this patient?
A baby boy is born after 29 weeks gestation. On day three, a routine examination reveals a continuous mechanical murmur and bounding femoral pulses. Echocardiography confirms a haemodynamically significant, isolated patent ductus arteriosus (PDA). What should be the next step in managing this condition?
A 13-year-old boy was hospitalized due to a two-week history of high-grade fever and bleeding gums. Upon examination of his peripheral blood, multiple blasts were observed, some of which displayed Auer rods. Which congenital condition is most strongly linked to this presentation?
A mother brings her four-month-old baby to the GP, concerned about episodes of vomiting and crying which she believes may be due to a tummy ache. The mother reports that her baby vomits after most feeds and cries constantly, even when laid down. The vomiting is non-projectile and non-bilious. The baby was born at 39 weeks via vaginal delivery, and the pregnancy was uncomplicated. The baby lives with both parents. On examination, the baby’s weight is appropriate for their growth chart. Their heart rate is 140 bpm, O2 saturation is 97%, respiratory rate is 42/min, and temperature is 37.6ºC. What is the most likely diagnosis?
A 4-week-old baby boy is brought to the Emergency Department with a two-week history of vomiting after every feed and then appearing very hungry afterwards. His weight has remained at 3.8 kg for the past two weeks, and for the past two days, the vomiting has become projectile. His birth weight was 3.2 kg. He is exclusively breastfed. A small mass can be palpated in the right upper quadrant of his abdomen.
What is the most likely diagnosis?
A father brings his 15-month-old daughter into surgery. Since yesterday she seems to be straining whilst passing stools. He describes her screaming, appearing to be in pain and pulling her knees up towards her chest. These episodes are now occurring every 15-20 minutes. This morning he noted a small amount of blood in her nappy. She is taking around 60% of her normal feeds and vomiting ‘green fluid’ every hour. On examination, she appears irritable and lethargic but is well hydrated and apyrexial. On examination, her abdomen seems distended but no discrete mass is found.
What is the most likely diagnosis?
A 5-year-old boy with an otherwise unremarkable medical history develops an ulcer in his ileum. What is the most likely congenital birth defect that caused his condition?