Paediatrics - Passtest Flashcards
(26 cards)
Describe Tetralogy of Fallot
- Right ventricular hypertrophy
- Ventricular septal defect (VSD)
- Right-sided outflow tract obstruction
- Overriding aorta
Most common cause of congenital cyanotic heart disease. Unlike transposition of the great vessels, cyanosis is not present at birth. It is caused by anterosuperior displacement of the infundibular septum.
‘Boot shaped’ heart - Describing the appearances of an upturned cardiac apex due to right ventricular hypertrophy and a concave pulmonary arterial segment.
What is the inheritance pattern of Retinoblastoma?
Most often, it follows a dominant inheritance pattern or is a sporadic mutation
What is folic acid?
A vitamin necessary for nucleic acid synthesis.
What is the treatment for conjugated hyperbilirubinaemia?
Ursodeoxycholic acid, as it reduces BR levels.
Name a cause of jaundice due to diminished conjugation of BR?
Congenital hypothyroidism
What signs could suggest a diagnosis of cerebral palsy?
Not walking by 18 months (corrected for prematurity) - could also be a sign for muscular dystrophy.
What is hereditary angioedema?
C1 esterase inhibitor deficiency. Presents with recurrent attacks of oedema in subcutaneous tissue and submucosa. It is autosomal dominant. Can have accompanying respiratory distress and abdominal pain.
What is achondroplasia?
Failure of longitudinal bone growth causing short limbs and stature due to activation of fibroblast growth factor 3 (FGF3) receptor which inhibits chondrocyte proliferation. Most cases due to sporadic mutations but dominant pattern also seen.
What is first-line investigation to exclude Duchenne Muscular Dystrophy?
Creatine phosphokinase - high levels in DMD - leaks out from muscle.
When would you start chest compressions in a neonate?
After a total of 10 inflation breaths and 30s of effective ventilation breaths if the HR<60bpm
Describe the signs of congenital cytomegalovirus infection
>90% asymptomatic when born Can present with: - Sensorineural deadness - Jaundice - Thrombocytopaenia - Microcephaly - Periventricular calcification (can result in cerebral palsy)
- Chrorioretinitis (though more common in toxoplasmosis)
- Hydrops foetalis (though more common in parvovirus infection)
Describe the signs of congenital toxoplasmosis infection
Triad of:
- Chorioretinitis
- Hydrocephalus
- Intracranial calcifications
Most are asymptomatic at birth Can also have: - IUGR - Jaundice - Hepatosplenomegaly - Microcephaly - Seizures - Rashes
Describe the signs of congenital parvovirus infection
Non-immune (rhesus-compatible) hydrops foetalis - accumulation of fluid in at least 2 foetal compartments. Can cause foetal anaemia.
Describe the signs of congenital syphilis infection
High risk of miscarriage, stillbirth, premature birth and neonatal death.
Presentation:
- Rash
- Blood stained rhinitis
- Hepatosplenomegaly
- Glomerulonephritis
- Meningitis
- Osteochondritis
Classic features
- Hutchinson’s teeth (small, widely spaced and notched teeth)
- Frontal bossing of skull
- Saddle nose deformity
- Saber shins (anterior bowing of shins)
- Clutton’s joints (symmetrical swelling of knee joints)
Benzylpenicillin is treatment of choice
Describe clinical signs of 5a reductase deficiency
Amibiguous genitalia
Phenotypically female until puberty
Testosterone (but not dihydrotesterone) in utero is required to allow differentiation of Wolffian ducts into the normal male genital tract. Differentiation of penis, scrotum etc. does require dihydrotestosterone and therefore, with 5a reductase deficiency you will get feminisation of these tissues.
Describe the manifestations of Ebstein’s anomaly
Apical displacement of the septal and posterior tricuspid valve leaflets. Displacement leads to atrialisation of the right ventricle (a part of ventricle becomes atrium), a large right atrium and a smaller right ventricle. It is also often associated with an ASD.
This leads to an enlarged heart which can progress to heart failure.
What is McArdle disease?
It is a glycogen storage disease (type 5). Rare autosomal recessive condition that results in a deficiency of myophosphorlyase, which is a key enzyme in the utilisation of glycogen in muscles. May get myoglobinuria (coca-cola coloured urine), associated with exercise and a second wind phenomenon in which after 10mins of ongoing exercise, muscles turn to other sources of energy e.g. fatty acids of proteins.Diagnosis is done with muscle biopsy and treatment is symptomatic.
What is DMD?
DMD is an X-linked recessive condition. Disease gets progressively worse, and is often recognised when child tries to take first steps. In DMD the child is completely unable to walk by 9-12 years and becomes completely paralysed by 18-21.
How would you manage a child with acute otitis media with tympanic perforation?
Commence oral ABs and review in 6 weeks to make sure perforation is healing.
What is a reflex anoxic seizure?
Form of syncope occurring in children at around 12 months, precipitated by fear or pain. The child stops breathing, loses consciousness, becomes hypotonic and pale. There may be an associated tonic seizure, a period of bradycardia or even asystole. Recovery is spontaneous and rarely requires intervention.
Describe the pathology of Transposition of the Great Arteries/Vessels
Cyanosis within first day of birth. Aorta originates for morphologic right ventricle and pulmonary trunk arises from left ventricle. Without a ASD, VSD or PDA that allows for mixing, TGA is incompatible with life.
TGA is also associated with increased pulmonary vascular marking, though no pulmonary oedema is present. This is due to increased pulmonary blood flow due to the shunts.
Note: An arterial partial pressure of O2 <50mmHg after the administration of 100% O2 is consistent with diagnosis of cyanotic heart disease.
Describe the signs of congenital hypothyroidism
Macroglossia (large protruding tongue), prolonged jaundice, umbilical hernia, flattened nasal bridge. The heel-prick (Guthrie) test screens for this.
Describe the signs found in Noonan syndrome
Similar to Turner’s but in boys, inherited in an autosomal dominant fashion. Most have a congenital heart defect e.g. pulmonary vascular stenosis, septal defects and hypertrophic cardiomyopathy.
Describe the features of osteogenesis imperfecta
Fragile bones, bony deformities, blue sclera, teeth abnormalities, heart valve abnormalities, deafness.
