Paediatrics Flashcards
Which of the following chromosomal abnormalities indicates Turner Syndrome? A) 46 XY B) 47 XXY C) 45 XX D) 45 X E) 45 Y
D) 45 X
Which of the following chromosomal abnormalities indicates Klinefelter Syndrome? A) 46 XY B) 47 XXY C) 45 XX D) 45 X E) 45 Y
B) 47 XXY
Give 6 changes or anomalies which might lead you to suspect T21 in an infant.
Craniofacial changes: round face, flat nasal bridge, upslanted palpebral fissures, epicanthic folds, brushfield spots in the iris, small mouth, protruding tongue, small ears, flat occiput and third fontanelle.
Medical anomalies: hypotonia, congenital heart disease, duodenal atresia, Hirschsprungs Disease.
Other changes: single palmar crease, I curved 5th finger, wide sandal gap.
What is the cardinal feature of the chromosomal abnormality 45, X?
Short stature (Turner Syndrome).
What is the most common presenting feature of the chromosomal abnormality 47, XXY?
Infertility (Kleinfelter Syndrome)
Which of the following conditions is inherited in an autosomal dominant manner? A) Cystic Fibrosis B) Down Syndrome C) Achondroplasia D) Sickle Cell disease E) Friedrichs Ataxia
C) Achondroplasia
B) T21
A, D and E all autosomal recessive
Which of the following conditions is inherited in an autosomal recessive manner? A) Congenital Adrenal Hyperplasia B) Ehlers-Danos Syndrome C) Huntington’s Disease D) Marfan Syndrome E) G6PD deficiency
A) Congenital Adrenal Hyperplasia
B, C and D are autosomal dominant inheritance.
E) X linked recessive inheritance
Which of the following conditions are inherited in an X-linked recessive manner? A) Myotonic Dystrophy B) Haemophilia A C) Polyposis Coli D) Tay-Sachs Disease E) Phenylketonuria
B) Haemophilia A
A and C are autosomal dominant
D and E are autosomal recessive
A woman is a known carrier of the Duchenne muscular dystrophy (DMD) genetic mutation. Her and her partner are now expecting their first child.
Ai) what mode of inheritance is present in this condition and illustrate this with a diagram.
Aii) If they have a son what is the likelihood he will be affected by or be a carrier of the condition?
Aiii) If they have a daughter what is the likelihood she will be affected by or be a carrier of the condition?
B) Which muscles are commonly the first to be affected in children with DMD?
C) In toddlers with DMD, which muscles may undergo pseudo-hypertrophy?
D) What is the life expectancy of individuals affected by this condition?
Ai) X-linked recessive inheritance
Aii) 50% chance of being affected, 0% chance of being a carrier
Aiii) 0% chance of being affected, 50% chance of being a carrier
B) muscles of the hips, thighs and shoulders
C) the calf muscles
D) in males with DMD, 20 years is the normal life expectancy.
Which clinical syndrome features failure to thrive in infancy but then obesity in later childhood, excessive appetite, small hands and feet and developmental delay?
Prader-Willi Syndrome
Give some of the main aims of genetic counselling.
To help a patient understand their situation.
To guide their decisions regarding the managment of the disease, risks of it occurring and whether other family members may want to be tested
It adjust their situation due to the risk of being affected by the condition
Give two of the physical features of foetal alcohol syndrome.
Two from…
saddle shaped nose, maxillary hypoplasia, absent philtrum, short and thin upper lip.
Which of the following is the most common congenital infection? A) Rubella B) CMV C) Toxoplasmosis D) Parvovirus E) Varicella zoster
B) CMV
All the others can cause congenital infections but CMV is the most common, affecting 3-4/1000 live births in the UK.
A baby is born and at 5 minutes is exhibiting the following... - HR <100bpm - regular, strong cry - well flexed, active limbs - cry and cough - body pink, extremities blue What is it's APGAR score at this stage?
8/10
1 for HR <100bpm and body pink, extremities blue
2 for everything else
15a) In foetal circulation which structure does the majority of the blood from the right ventricle flow through?
b) Is this blood oxygenated or deoxygenated?
c) What other structure within the foetal heart allows blood to move from the right to the left side?
d) In the foetus, is the pulmonary vasculature constricted or dilated?
e) The ductus venosus allows blood from the left umbilical vein to bypass which structure?
f) In adults, which structure is formed from the remnants of the ductus venosus?
a) The ductus arteriosus
b) oxygenated
c) The foramen ovale
d) Constricted
e) the liver
f) the ligamentum venosum
‘A common rash appearing at 2-3 days of age consisting of white pinpoint papules at the centre of an erythematous base’ describes which skin lesion that affects newborns?
Neonatal uticaria (aka erythema toxicum)
A newborn infant is noted to have a tuft of hair over their lumbar spine. What condition might this indicate?
Spina bifida
Which two manoeuvres are used to test for developmental dysplasia of the hip and what do they do?
Barlow manoeuvre: dislocates the hip posteriorly from the acetabulum
Ortolani manoeuvre: dislocated hip is relocated into the acetabulum
Which conditions are screened for by a heel prick blood test when a baby is 5-9 days old (aka The Guthrie Test)?
- Phenylketonuria
- Hypothyroidism
- Sickle cell disease and thallasaemia (haemaglobinopathies)
- Cystic fibrosis
- MCAD (medium-chain acyl-CoA dehydrogenase) deficiency
Give three possible causes of hypoxic-ischaemic encephalopathy (HIE) in neonates?
Three from…
- failure of gas exchange across the placenta (i.e. prolonged/excessive contractions, placental abruption, rupture uterus)
- Interruption of umbilical cord flow (i.e. cord compression or cord prolapse)
- Inadequate maternal placental perfusion, maternal hypotension/hypertension (often with IUGR)
- Compromised foetus (i.e. anaemia or IUGR)
- Cardiorespiratory adaptation failure at birth
During a complicated delivery, an infant suffers a left-sided shoulder dystocia.
a) Which bone may be fractured?
b) Which structure beneath this bone may be damaged?
c) Damage to this structure results in which abnormality?
d) How will this abnormality present?
a) the left clavicle
b) the left brachial plexus
c) Erb’s Palsy
d) Left arm will be straight, limp and have the hand pronated with the fingers flexed.
A baby boy is born at 28 weeks via planned C-section due to maternal pre-eclampsia. Within 4 hours of birth he develops a tachyapnoea of >60 with subcostal recession, nasal flaring and expiratory grunting.
a) What is the likely diagnosis?
b) Describe the characteristic chest x-ray appearance of this condition.
c) What is the underlying pathophysiology of this condition?
d) What is given antenatally to reduce the risk of this condition occurring?
The baby is moved to NICU and put on a ventilator.
e) What complication might arise from this baby being ventilated and how might you identify it?
a) Respiratory distress syndrome
b) CXR will have a ground glass appearance with the heart border indistinct or obscured (in severe disease)
c) It is due to a deficiency of surfactant in the baby’s immature lungs due to a low number of type II pneumocytes in the alveolar epithelium. Surfactant lowers surface tension within the alveoli and keeps them open and so in it’s absence there is widespread alveolar collapse and inadequate gas exchange, leading to RDS.
d) Glucocorticoids are given antenatally to stimulate surfactant production.
e) Pneumothorax, will present reduced breath sounds and chest wall movement on the affected side and an increase in oxygen requirements.
Give two options for closing a patent ductus arteriosus in a pre-term infant.
Ibuprofen or surgical ligation
A pre-term infant has stopped tolerating her feeds of cow’s milk formula and has produced bilious vomit. On examination her abdomen is distended.
a) What is the most likely diagnosis?
b) What is the underlying pathophysiology?
c) Describe it’s characteristic x-ray appearance.
d) What is the medical management of this condition?
e) Which complication may arise from this condition and who should patients be referred to?
a) Necrotising enterocolitis
b) Bacterial invasion of ischaemic bowel wall.
c) distended loops of bowel and thickened bowel wall with intramural gas. There may also be gas in the portal tract.
d) stop oral feeding and commence broad spectrum antibiotics to cover aerobes and anaerobes.
e) Bowel perforation therefore refer immediately to general surgery.
