Paeds Flashcards
Q: What type of disorder is achondroplasia and what is it associated with?
A: Achondroplasia is an autosomal dominant disorder associated with short stature.
Q: What gene mutation causes achondroplasia?
A: A mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene causes achondroplasia.
Q: What are the characteristics of abnormal cartilage in achondroplasia?
A: Characteristics include short limbs (rhizomelia) with shortened fingers (brachydactyly), large head with frontal bossing and narrow foramen magnum, midface hypoplasia with a flattened nasal bridge, ‘trident’ hands, and lumbar lordosis.
Q: What is the main risk factor for achondroplasia?
A: The main risk factor is advancing parental age at the time of conception.
Q: How is achondroplasia typically inherited?
Q: How is achondroplasia typically inherited?
A: Once present, achondroplasia is typically inherited in an autosomal dominant fashion.
Q: Is there a specific therapy for achondroplasia?
A: There is no specific therapy for achondroplasia.
Q: What treatment can benefit some individuals with achondroplasia?
A: Some individuals benefit from limb lengthening procedures, which usually involve the application of Ilizarov frames and targeted bone fractures.
Q: What causes acute epiglottitis?
A: Acute epiglottitis is caused by Haemophilus influenzae type B.
Q: Why is prompt recognition and treatment essential in acute epiglottitis?
A: Prompt recognition and treatment are essential because airway obstruction may develop.
Q: What are the features of acute epiglottitis?
A: Features include rapid onset, high temperature, generally unwell, stridor, drooling of saliva, and the ‘tripod’ position.
Q: What is the ‘tripod’ position in acute epiglottitis?
A: The ‘tripod’ position is when the patient finds it easier to breathe if they are leaning forward and extending their neck in a seated position.
Q: How is the diagnosis of acute epiglottitis made?
A: Diagnosis is made by direct visualisation by senior/airway trained staff. X-rays may be done, with a lateral view showing the ‘thumb sign’.
Q: What does a lateral view x-ray show in acute epiglottitis?
A: A lateral view in acute epiglottitis will show swelling of the epiglottis, known as the ‘thumb sign’.
Q: What does a posterior-anterior view x-ray show in croup?
A: A posterior-anterior view in croup will show subglottic narrowing, commonly called the ‘steeple sign’.
Q: What is the initial management of acute epiglottitis?
A: Initial management includes immediate senior involvement, endotracheal intubation if necessary, not examining the throat if suspected, providing oxygen, and administering intravenous antibiotics.
Q: Why should the throat not be examined if acute epiglottitis is suspected?
A: The throat should not be examined due to the risk of acute airway obstruction.
Q: What is the most common malignancy affecting children?
A: Acute lymphoblastic leukaemia (ALL) is the most common malignancy affecting children.
Q: At what age does the peak incidence of acute lymphoblastic leukaemia (ALL) occur?
A: The peak incidence of acute lymphoblastic leukaemia (ALL) occurs at around 2-5 years of age.
Q: What are some features of acute lymphoblastic leukaemia (ALL) caused by bone marrow failure?
A: Features include anaemia (lethargy and pallor), neutropaenia (frequent or severe infections), and thrombocytopenia (easy bruising, petechiae).
Q: What are some other features of acute lymphoblastic leukaemia (ALL)?
A: Other features include bone pain (secondary to bone marrow infiltration), splenomegaly, hepatomegaly, fever (present in up to 50% of new cases), and testicular swelling.
Q: What is the phenotype and marker for common ALL?
A: Common ALL has a pre-B phenotype and CD10 is present.
Q: What are the poor prognostic factors for acute lymphoblastic leukaemia (ALL)?
A: Poor prognostic factors include age < 2 years or > 10 years, WBC > 20 * 10^9/L at diagnosis, T or B cell surface markers, non-Caucasian ethnicity, and male sex.
Q: What is the most important condition to exclude in a child with an acute scrotal presentation?
A: It is essential to exclude testicular torsion, as immediate surgery is required.
Q: At what age is testicular torsion most common in children?
A: Testicular torsion is most common around puberty.