Day 5 Flashcards

Question

Oligohydramnios definition

Answer 1

Oligohydramnios is when you have low amniotic fluid during pregnancy. Your healthcare provider diagnoses low amniotic fluid using an ultrasound.

Answer 2

Polyhydramnios (pol-e-hi-DRAM-nee-os) is the excessive accumulation of amniotic fluid — the fluid that surrounds the baby in the uterus during pregnancy.

Answer 3

A common presentation in General Practice is a child complaining of pain in the legs with no obvious cause. Such presentations, in the absence of any worrying features, are often attributed to '**growing pains**'. This is a misnomer as the pains are often not related to growth - the current term used in rheumatology is 'benign idiopathic nocturnal limb pains of childhood'

Answer 4

Diastolic Murmur

Answer 5

Characteristics of an innocent ejection murmur include: * soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area * may vary with posture * localised with no radiation * no diastolic component * no thrill * no added sounds (e.g. clicks) * asymptomatic child * no other abnormality

Answer 6

Low-pitched sound heard at the lower left sternal edge

Answer 7

Due to the turbulent blood flow in the great veins returning to the heart. Heard as a continuous blowing noise heard just below the clavicles

Answer 8

Child aged 5-16 years with asthma not controlled by a SABA asthma management in children 5-16 - add a paediatric low-dose ICS Beclometasone dipropionate

Answer 9

This medication belongs to a class of drugs known as corticosteroids.

Answer 10

Montelukast is in the leukotriene receptor antagonist family of medications. It is generally less preferred for this use than inhaled corticosteroids. It is not useful for acute asthma attacks.

Answer 11

Theophylline, also known as 1,3-dimethylxanthine, is a **phosphodiesterase inhibiting drug** used in therapy for respiratory diseases such as chronic obstructive pulmonary disease and asthma

Answer 12

A benign ejection systolic murmur varies with posture. All other answers are features of pathological murmurs. 'Only mild symptoms' is not a good thing - any symptom at all is a sign that the murmur is not benign. Characteristics of an innocent ejection murmur include: * soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area * may vary with posture * localised with no radiation * no diastolic component * no thrill * no added sounds (e.g. clicks) * asymptomatic child * no other abnormality

Answer 13

**Hand, foot and mouth disease** is a viral infection that commonly affects children under 10 years. The symptoms are fever, anorexia, cough, abdominal pain and sore throat. Mouth ulcers commonly follow with a rash that classically affects hands and feet but also face, buttocks, legs and genitals. It is generally a benign self-resolving condition treated with simple analgesia.

Answer 14

Turner's syndrome is associated with aortic coarctation

Answer 15

Therapeutic cooling at 33-35 degrees attempts to reduce the chances of severe brain damage in neonates with hypoxic injury

Answer 16

All babies should receive vitamin K at birth to prevent haemorrhagic disease of the newborn

Answer 17

Inform her that as she is under 16 she cannot refuse treatment The family law reform act of 1969 states that 'those over 16 can consent to treatment, but cannot refuse treatment under 18 unless there is one consenting parent, even if the other disagrees'.

Answer 18

Roseola infantum (also known as exanthem subitum, occasionally sixth disease) is a common disease of infancy caused by the human herpes virus 6 (HHV6). It has an incubation period of 5-15 days and typically affects children aged 6 months to 2 years

Answer 19

Tetralogy of Fallot: Cyanosis or collapse in first month of life, hypercyanotic spells. Ejection systolic murmur at left sternal edge

Answer 20

* cyanosis unrepaired TOF infants may develop episodic hypercyanotic 'tet' spells due to near occlusion of the right ventricular outflow tract features of tet spells include tachypnoea and severe cyanosis that may occasionally result in loss of consciousness they typically occur when an infant is upset, is in pain or has a fever * causes a right-to-left shunt * ejection systolic murmur due to pulmonary stenosis (the VSD doesn't usually cause a murmur) * a right-sided aortic arch is seen in 25% of patients * chest x-ray shows a 'boot-shaped' heart, ECG shows right ventricular hypertrophy

Answer 21

The four characteristic features are: * ventricular septal defect (VSD) * right ventricular hypertrophy * right ventricular outflow tract obstruction, pulmonary stenosis * overriding aorta

Answer 22

**Management** CKS recommend giving a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity prednisolone is an alternative if dexamethasone is not available **Emergency treatment** high-flow oxygen nebulised adrenaline

Answer 23

The main differential diagnosis in a boy over 10 years old is of slipped upper femoral epiphysis. Knee pain is a common presenting feature. An anteroposterior pelvic x-ray may miss a minor slip, therefore request a hip film.

Answer 24

The correct answer is: Ultrasound hip This child is at risk of developmental dysplasia of the hip (up to 20% will have DDH), so should have the hip joints scanned to exclude this.

Answer 25

The correct answer is: MRI scan Perthes' disease should be suspected in boys over 4 years old presenting with a limp. Early disease can be missed on x-ray. MRI is increasingly replacing bone scans as the second line investigation of choice

Answer 26

Splints and harnesses or traction. In later years osteotomy and hip realignment procedures may be needed. In arthritis a joint replacement may be needed. *However, this is best deferred if possible as it will almost certainly require revision*

Answer 27

* Initially no obvious change on plain films and USS gives best resolution until 3 months of age. * On plain films Shentons line should form a smooth arc

Answer 28

X-rays will show flattened femoral head. Eventually in untreated cases the femoral head will fragment.

Answer 29

* Remove pressure from joint to allow normal development. Physiotherapy. * Usually self-limiting if diagnosed and treated promptly.

Answer 30

Hip pain (may be referred to the knee) usually occurring between 5 and 12 years of age. Bilateral disease in 20%.

Answer 31

* X-rays will show the femoral head displaced and falling inferolaterally (like a melting ice cream cone) * The Southwick angle gives indication of disease severity

Answer 32

Bed rest and non-weight bearing. Aim to avoid avascular necrosis. If severe slippage or risk of it occurring then percutaneous pinning of the hip may be required.

Answer 33

Typically seen in obese male adolescents. Pain is often referred to the knee. Limitation to internal rotation is usually seen. Knee pain is usually present 2 months prior to hip slipping. Bilateral in 20%.

Answer 34

This baby is not well, the reduced feeding (\<50% usual amount) and evident grunting are features of serious illness. Neonatal sepsis should be considered in infants with vague signs such as **poor feeding**, **grunting**, **lethargy** Neonatal sepsis is the most likely diagnosis here due to the **prolonged rupture of membranes** followed by symptoms that can be attributable to neonatal sepsis which is often vague such as lethargy and poor feeding. **Grunting** however is also a definite **red flag features** of serious illness and neonatal sepsis in this context.

Answer 35

Hand foot and mouth disease does not require exclusion from a childcare setting or school

Answer 36

**Pyloric stenosis** classically leads to **hypochloraemic**, **hypokalaemic** **alkalosis**

Answer 37

Features * 'projectile' vomiting, typically 30 minutes after a feed * constipation and dehydration may also be present * a palpable mass may be present in the upper abdomen * hypochloraemic, hypokalaemic alkalosis due to persistent vomiting

Answer 38

Diagnosis is most commonly made by ultrasound. Management is with Ramstedt pyloromyotomy.

Answer 39

VSD increases risk of endocarditis Patients with VSD are at a high risk of endocarditis. Occurs at a rate of 2.4 cases per 1000 patients per year

Answer 40

The Men B vaccine is given at 2, 4 and 12-13 months.

Answer 41

A macrolide e.g. erythromicin should be used for children with pneumonia if mycoplasma is suspected

Answer 42

The most likely diagnosis here is coeliac disease, diagnosed using IgA TTG antibodies * jejunal biopsy showing subtotal villous atrophy * anti-endomysial and anti-gliadin antibodies are useful screening tests

Answer 43

BCG vaccination against TB should be offered to babies with family history of TB or from high risk region/country with TB (defined as \>40 cases/100000) as defined by WHO

Answer 44

Developmental dysplasia of the hip

Answer 45

Torticollis, also known as wryneck, is a twisting of the neck that causes the head to rotate and tilt at an odd angle.

Answer 46

Calcaneovalgus foot is one of the most common deformities of the foot seen in newborns. Babies with this condition are born with their foot and ankle excessively bent up, where the toes are usually touching the shin.

Answer 47

Caesarian section and staged repair The likely diagnosis here is that of **exomphalos** (omphalocoele). Alpha-foetoprotein may be elevated with abdominal wall defects. The correct option is caesarian section with staged repair - this would be the normal management as caesarian reduces the risk of sac rupture, and surgery is non-urgent. If an unborn has exomphalos then caesarean section is indicated to reduce the risk of sac rupture

Answer 48

Exomphalos is an abdominal wall (tummy wall) defect. It happens when a baby's abdominal wall does not develop fully while in the womb.

Answer 49

**Gastroschisis** is a birth defect of the abdominal (belly) wall. **The baby's intestines are found outside of the baby's body**, exiting through a hole beside the belly button. The hole can be small or large and sometimes other organs, such as the stomach and liver, can also be found outside of the baby's body. **Vaginal delivery with immediate repair** would be indicated for gastroschisis, rather than exomphalos - given the defect and lack of a sac for protection, immediate surgery is required as this is an emergency.

Answer 50

If a formula-fed baby is suspected of having mild-moderate cow's milk protein intolerance then a extensive hydrolysed formula should be tried

Answer 51

12-13 months immunisations: Hib/Men C + MMR + PCV + Men B

Answer 52

**Mesenteric adenitis** describes inflamed mesenteric lymph nodes. It is often preceeded by a viral infection. It is self limiting This child has had what was a likely viral illness in the past week and is now suffering with abdominal pain. He is eating and drinking normally, unlikely in appendicitis. He is passing normal stools, unlikely in constipation. He is not vomiting, unlikely in gastroenteritis. Abdominal migraine is rare and is less likely than mesenteric adenitis in this scenario.

Answer 53

* Mesenteric adenitis is inflamed lymph nodes within the mesentery. * It can cause similar symptoms to appendicitis and can be difficult to distinguish between the two. * It often follows a recent viral infection and needs no treatment

Answer 54

8 years of age

Answer 55

## Footnote **thelarche** (the first stage of breast development) **adrenarche** (the first stage of pubic hair development)

Answer 56

**1. Gonadotrophin dependent ('central', 'true')** * due to premature activation of the hypothalamic-pituitary-gonadal axis * FSH & LH raised **2. Gonadotrophin independent ('pseudo', 'false')** * due to excess sex hormones * FSH & LH low

Answer 57

Organic causes * are rare, associated with rapid onset, neurological symptoms and signs and dissonance * e.g. McCune Albright syndrome

Answer 58

**Hirschsprung's** disease is a congenital condition where there a section of the bowel has an abnormal nervous supply, reducing the normal peristaltic motion of the bowel. This typically results in delayed passage of meconium and chronic constipation in childhood. Of the answers provided, **Down's syndrome** (trisomy 21) is the only genetic condition associated with the development of Hirschsprung's disease.

Answer 59

Cri du chat syndrome is caused by a chromosome 5q deletion typically presents with a high-pitched cry in infancy.

Answer 60

Edward's syndrome is caused by trisomy 18. Typical presenting features include a small jaw, low-set ears, rocker-bottom feet and overlapping fingers.

Answer 61

Fragile-X syndrome is caused by a **trinucleotide repeat expansion** and is inherited in an **X-linked dominant fashion**. Typical presenting features include mild-moderate learning difficulty, a long and narrow face, large ears, flexible fingers and large testicles.

Answer 62

Noonan syndrome is inherited in an autosomal dominant fashion in the majority of cases. Typical presenting features include a webbed neck, pectus excavatum, short stature and pulmonary stenosis.

Answer 63

Patau's syndrome (trisomy 13) Typically associated with microcephaly, small eyes, cleft lip/palate, polydactyly and scalp lesions.

Answer 64

Pierre-Robin syndrome is typically characterised by a **cleft palate**, **posterior displacement of the tongue** and a **small jaw**. The underlying cause of this syndrome remains poorly defined, although oligohydramnios, connective tissue disorder and genetic defects have been postulated.

Answer 65

Turner's syndrome is caused by the presence of only one X chromosome, resulting in a **45,X0 genotype**. Patients are genetically and **phenotypically female**. Turner's presents with multiple overlapping features with Noonan syndrome Turners is more associated with **bicuspid aortic valve** and **coarctation of the aorta** while Noonan's presents with pulmonary stenosis. Typical presenting features include a webbed neck, pectus excavatum, short stature.

Answer 66

William's syndrome is most commonly caused by a random **genetic deletion on chromosome 7**. Typical features include mild to **moderate learning difficulty and a friendly, extroverted personality.**

Answer 67

Noonan's syndrome mid-systolic murmur suggests pulmonary stenosis

Answer 68

Fragile X syndrome

Answer 69

Typically, pain is: * Unilateral (but may be bilateral in up to 30% of people). * Gradual in onset and initially mild and intermittent, but may progress to become severe and continuous. * Relieved by rest and made worse by kneeling and activity, such as running or jumping.

Answer 70

(tibial apophysitis) Seen in sporty teenagers Pain, tenderness and swelling over the tibial tubercle

Answer 71

Apophysitis is an overuse injury that typically occurs after repetitive activities of the muscles attached to the apophysis. Typically seen in sporty teenagers Osgood-Schlatter disease (tibial apophysitis)

Answer 72

Pain after exercise Intermittent swelling and locking

Answer 73

Softening of the cartilage of the patella Common in teenage girls Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting Usually responds to physiotherapy

Answer 74

A patellar subluxation means that the kneecap has briefly slid out of its normal place in that groove. Medial knee pain due to lateral subluxation of the patella Knee may give way

Answer 75

Patellar tendinopathy is a condition that can happen when the **tendon** that joins your kneecap (patella) to your shin bone (tibia) gradually wears down. * More common in athletic teenage boys * Chronic anterior knee pain that worsens after running * Tender below the patella on examination