When can it be normal for boys to have gynaecomastica?
During puberty if transient
What are the features of congenital adrenal hyperplasia and how should you investigate?
- 21 hydroxylase deficiency
- Ambiguous genitalia or bilateral undescended testicles
- Risk of salt losing adrenal crisis (vomiting, weight loss, floppy unwell infant) typically around 1-3 weeks of age
- Measure urea and electrolytes in addition to chromosomal analysis and pelvic ultrasound
What are the features of Klinefelter's?
- Tall stature
- Delayed puberty
- Possibly mild learning difficulties
What are the features of Turner's syndrome?
- 45 chromosomes no Y
- Short stature
- Delayed puberty
- Thyroid disorders
- Coarctation of the aorta
- Aortic stenosis
- horseshoe kidney and coeliac disease
What are the features of galactosaemia?
- Deficiency in galactose-1-phosphate uridyl transferase
- Illness with lactose containing milks
- Recurrent E coli sepsis
Is group B strep gram positive or negative?
What is the initial management for NEC?
NBM and IV Fluids
How do you diagnose microdeletion syndromes?
What is CHARGE syndrome?
- Heart defects
- Atresia choanae
- Retardation of growth and devleopment
- Genitourinary abnormalities
- Ear anomalies
What's the difference in presentation between Tetralogy of Fallot and transposition of the great arteries?
Transposition presents at birth as the ductus starts to close. Tetralogy presents at about 6 months with cyanotic spells.
What is choanal atresia?
Congenital blockage of the nasal airway which presents with newborn cyanosis and respiratory distress (as infants are obligate nasal breathers)
What is the most likely site for an inhaled foreign body to cause lung collapse?
Right middle lobe
What pattern of lung disease is seen in muscular dystrophy?
What are the common congenital heart defects in order of most common to least?
- Atrial septal defect, coarctation of the aorta, transposition of the great arteries
Which heart diseases are associated with Down's?
AVSD, VSD, tetralogy of fallot
What is seen on an ECG in SVT?
Narrow complex tachycardia
How is SVT treated?
- Vagal manoeuvres
- Adenosine if that doesn't work
- Sedated synchronised cardioversion if that doesn't work (but do this urgently without waiting for sedation if the patient becomes cardiovascularly compromised e.g. loss of consciousness)
What are the diagnostic criteria for Kawasaki disease?
5 out of 6 of:
- Fever for >5 days
- Bialteral non purulent conjunctivitis
- Oral changes e.g. dry, cracked red lips, strawberry tongue
- Erythema and oedema of the hands or feet
- Cervical lymphadenopathy
Inflammation at the BCG scar site is common but not a diagnostic criterion
What are the major criteria for rheumatic fever?
- Pancarditis e.g. endocarditis - Murmur or valvular dysfunction
- Myocarditis - heart failure
- Pericarditis - rub, effusion or tamponade
- Polyarthritis common in the knees, wrists, and ankles and may flit from joint to joint lasting more than 1 week in total (cf reactive arthritis)
- Sydenham's chorea starting 2-6 months after the infection
- Erythema marginatum
- Subcutaneous nodules
What are the minor criteria for rheumatic fever?