A 5-year-old is brought by his father for abnormal stool patterns. He has just started kindergarten and the staff note he does not go to the toilet when at the kindergarten. He returns home and has been trying to pass stool with difficulty and pain. His father is worried because he now passes frequent small stools at home and is not sure what to do.
What is the initial management option for this child?
A 6-year-old boy is brought to his General Practitioner by his mother, who reports that he has been feeling tired and has developed mouth sores. Additionally, he has bruises on his knees and palms. A bone marrow aspirate reveals a hypocellular image.
What is the most probable diagnosis?
A 26-month-old child has a short history of runny nose and fever. She is staying with her grandparents, who believe in sweating out a fever and wrap her up well under several blankets on the sofa between them. She suddenly cries out and then has a single grand mal seizure lasting two minutes, during which she is incontinent of urine. A couple of minutes after the episode she is completely well. Examination reveals no focal neurological signs. Development to date has been normal.
Which of the following 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 4 kg for the past two weeks, and for the past two days, the vomiting has become projectile. His birthweight was 3.6 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 6-year-old girl with known sickle cell disease presents with pallor, back pain and a 6-cm tender, enlarged spleen. She is anaemic with a raised reticulocyte count, and is moderately jaundiced.
Which one of the following is the most likely diagnosis?
An infant is noted to have a cleft palate, aortic arch abnormality and absent thymus on chest radiograph. Which of the following is the most likely diagnosis?
As a foundation doctor on the neonatal ward, you conduct a newborn examination on a six hour old infant. The baby was delivered vaginally at 38 weeks with no risk factors for sepsis and no maternal concerns. The baby was born in a healthy condition, with good tone. However, you observe cyanosis in the peripheries, while the rest of the examination appears normal. Pre and post ductal oxygen saturations are at 97%. What is the probable diagnosis?
A mother brings her 3-year-old child to you, complaining of frequent respiratory infections, a persistent cough, and poor weight gain. The child is currently at the 3rd percentile for their age. The parents are of Romanian descent and have recently moved to the UK. What test should be performed to confirm the suspected diagnosis?
Samantha is a 28-year-old who comes to your GP clinic seeking information about cystic fibrosis. She is in a committed relationship and wants to start a family. Samantha mentions that her partner’s family has a history of cystic fibrosis and she wants to know more about it. She has already done some research and knows that cystic fibrosis is caused by mutations in the CF transmembrane conductance regulator gene (CFTR) on chromosome 7. Samantha asks you to explain how cystic fibrosis is inherited.
Can you help her understand the inheritance pattern of cystic fibrosis?
As a GPST1 in a GP practice, I have a patient named Sarah who is 24 years old and has come to me seeking information on cystic fibrosis. She has been informed in the past that she is a carrier. Can you provide me with the correct information to share with her?