Child Health Flashcards

Question

What are the signs of a life threatening asthma episode?

Answer 1

Peak exploratory flow rate is <33% predicted Oxygen saturations <92% Silent chest on auscultation Weak or no respiratory effort Hypotension Exhaustion Confusion/altered conscious level Near fatal is when the PCO2 is also normal

Answer 2

Widespread wheeze with exacerbation minutes to hours confirmed by reduced peak expiratory flow rate and FEV 1 which improves with treatment

Answer 3

- O2 mainted between 94-98% with high flow oxygen - Inhaled salbutamol - Nebulised salbutamol - Add nebulised ipratropium bromide - If O2 saturations remain <92% add magnesium sulphate - Add intravenous salbutamol if no response to inhaled therapy - If severe or life-threatening acute asthma not responsive to inhaled therapy, add aminophylline - All patients should receive steroids. They should only be given IV if the patient is unable take the dose orally - You should contact a senior if the patient is not responding to salbutamol or ipratropium.

Answer 4

vesicular rash on the palms, soles and buccal mucosa along with a fever

Answer 5

Red rash across the cheeks (lace-like rash across the rest of the body) Prodrome of fever, coryza (runny/stuffy nose), diarrhoea

Answer 6

- Red cell aplasia (decline in red blood cells) - Infection in the first half of pregnancy can also cause severe foetal anaemia that can precipitate hydrops foetalis and subsequent miscarriage - Cardiomyopathy

Answer 7

A condition in which the bowel of premature infants becomes ischaemic and infected

Answer 8

* Prematurity * Low birth weight * Non-breast-milk feeds * Sepsis * Acute hypoxia * Poor intestinal perfusion

Answer 9

* Presents in the first three weeks of life * Vomiting (may be bile streaked - green stained) * Bloody stools * Abdominal distension * Absent bowel sounds * Signs of systemic compromise including acidosis on a blood gas

Answer 10

Abdominal X-ray with following signs: - Dilated Bowel Loops - Pneumatosis intestinalis (gas within the bowel wall) - Portal venous gas - Pneumoperitoneum (air in abdominal cavity) Staged using Bell's classificiation - mix of clinical and radiological findings

Answer 11

* Nil-by mouth, nasogastric tube and admitted to the neonatal unit * Broad-spectrum antibiotics * Total parenteral nutrition to rest the bowel * Supportive treatment with IV fluids and ventilation are also crucial * Surgery to resect necrotic sections of bowel may be necessary, and is essential in cases of bowel perforation. Mothers of premature babies are strongly encouraged to breastfeed as this reduces NEC risk

Answer 12

Most hydroceles will spontaneously resolve by 12 months. Therefore, management includes observation initially and then surgical correction if they have not resolved by 1 year. This is because there is a significantly increased risk of an indirect inguinal hernia.

Answer 13

A condition that affects only females and results when one of the X chromosomes is missing or partially missing

Answer 14

- Short stature - Lymphoedema of hands and feet in neonate, may persist - Spoon-shaped nails - Webbed neck - Widely space nipples - Wide carrying angle - Congenital heart defects - bicuspid aortic valve (most common), coarctation of the aorta (around 5% of all cases associated with Turner's) - Delayed puberty - Ovarian dysgenesis causing infertility - Hypothyroidism - Recurrent otitis media - Normal intellect Increased risk of aortic stenosis (bicuspid valve defect) and aortic dissection (from coarctation of the aorta)

Answer 15

Growth hormone therapy Oestrogen replacement to allow development of secondary sexual characteristics

Answer 16

A condition caused by the rubella togavirus, which is transmitted via aerosols. Children are routinely vaccinated for Rubella as part of the MMR vaccine starting at 12 months of age.

Answer 17

Nonspecific symptoms and signs such as fever, coryza, arthralgia, a rash, which classically starts on the face and moves down to the trunk, sparing the arms and legs), and lymphadenopathy (classically post-auricular - behind the ear) Measles does not spare limbs Confirmed with serological testing

Answer 18

Supportive

Answer 19

Cataracts, deafness, patent ductus arteriosus, brain damage

Answer 20

Wetting the bed at night is common in young children as they learn to gain voluntary control of the bladder sphincters. It is considered normal until children are 5 years old.

Answer 21

Primary nocturnal enuresis is seen in children who have never achieved urinary continence overnight. Secondary nocturnal enuresis is seen in children who have previously achieved urinary continence overnight.

Answer 22

Diabetes mellitus Urinary tract infections Constipation - due to compression of the bladder

Answer 23

Star chart - initial conservative approach to reward good habits First line - nocturesis alarm that detects water in the underwear and activates alarm Over 7 years old can trial DDVAP (synthetic ADP) if alarm has failed

Answer 24

rare condition where the bile ducts of an infant are progressively fibrosed and destroyed, leading to conjugated hyperbilirubinaemia, liver failure and death if not treated

Answer 25

Prolonged jaundice (i.e., jaundice that persists beyond 14 days of life) Signs of biliary obstruction (e.g, dark urine and chalky white stool)

Answer 26

Bloods will show a raised conjugated bilirubin and deranged liver function tests A hepatic scintigraphy (technetium-99) radioisotope scan will highlight the liver (takes up the isotope) but poor excretion into the bowel (as the bile ducts connecting the liver and the gut have been destroyed) Abdominal ultrasound reveals echogenic fibrosis Definitive diagnosis of biliary atresia is confirmed with cholangiography, which will fail to show normal architecture of the biliary tree

Answer 27

Surgery is required: hepatoportoenterostomy (Kasai procedure), which creates a new pathway from the liver to the gut to bypass fibrosed ducts

Answer 28

Caused by Haemophilia Influenza B This is an emergency - Senior ENT, anaesthetics and paediatric support is required as soon as possible alongside notifying PICU - Do not examine or upset the child in the absence of senior support - Securing the airway is the first priority. - Endotracheal intubation may be necessary. - Once the airway is secure, take cultures and examine the throat - Treat with IV antibiotics: cefuroxime

Answer 29

Cystic fibrosis is a progressive, autosomal recessive disorder that causes persistent lung infections and limits the ability to breathe over time

Answer 30

Mutations affect the structure, processing or cellular transport of the CFTR protein (cystic fibrosis transmembrane conductance regulator) The most common mutation, affecting Delta-F508, results in abnormal glycosylation and subsequent degradation of the CFTR protein before it reaches the cell membrane.

Answer 31

Thick mucus in the lungs causes cough, recurrent infections, and bronchiectasis (abnormal widening of the bronchi) Sinusitis and nasal polyps are also very common. Patients usually are colonised with Pseudomonas in the lung by about age 20. Reduced pancreatic lipase enzyme secretion inhibits fat absorption, causing steatorrhoea (fatty stools) Poor fat absorption consequently contributes to deficiency of fat-soluble vitamins (A, D, E and K) Poor weight gain Diabetes mellitus Seminiferous tubes also get blocked; most men with cystic fibrosis are unable to conceive naturally. Fertility is also slightly lower than average in women due to thicker cervical mucus

Answer 32

- In neonates Acutely with meconium ileus (blockage of small intestine) - diagnosed and treated with a gastrograffin enema Delay in pasing meconium Bilious green vomiting - In infants Salty sweat Faltering growth Malabsoprtion syndromes - In Older children Faltering growth Recurrent chest infections Malabsorption syndromes Delayed onset puberty

Answer 33

Definitive diagnosis is via a sweat test screened for on the neonatal blood spot test within the first few days of life; they have a raised blood immunoreactive trypsinogen

Answer 34

Daily chest physiotherapy techniques are necessary to help clear mucus and prevent pneumonias. prophylactic antibiotics, bronchodilators, and medicines to thin secretions (e.g. dornase alfa) Pancreatic enzyme replacement (creon) and fat-soluble vitamin supplementation (ADEK) are also useful. Patients should also have influenza and pneumococcal vaccines A last-resort for patients with end-stage pulmonary disease in cystic fibrosis may be a bilateral lung transplant.

Answer 35

functional or structural nervous system abnormalities e.g. decreased cranial size, structural brain abnormalities, problems with attention, cognitive difficulties growth impairment e.g. low birth weight, decelerating weight over time specific facial abnormalities (e.g. short palpebral fissures, smooth philtrum and thin upper lip)

Answer 36

coarse red rash (sandpaper texture) Sore Throat Headache Fever Bright red tongue Caused by a streptococcus

Answer 37

It is treated with antibiotics (usually 10 days of phenoxymethylpenicillin) Children remain infectious until 24 hours after the first dose of antibiotics

Answer 38

Roseola (Human Herpes Virus 6) causes a lace-like red rash (rose-pink macular with surrounding pale halos) across the whole body with a high fever. It is self limiting and management is supportive

Answer 39

Chickenpox presents with a maculopapular vesicular rash that crust over and form blisters, which can be itchy caused by varicella zoster virus (Human Herpes Virus 3) Children are infectious from 1-2 days before the rash until every single lesion has crusted over Treatment is supportive unless the patient is in one of the categories below in which case antiviral treatment (and potentially hospital admission following discussion with a specialist) is indicated. A neonate Immunocompromised An adolescent presenting within the first 24 hours of rash onset Pregnant Complications include pneumonitis and encephalitis.

Answer 40

Measles presents with a characteristic erythematous, blanching maculopapular rash all over the body. It is preceded by a fever, cough, runny nose or conjunctivitis. Koplik spots (white spots inside the buccal cavity) may also be seen alongside the preceding symptoms. Children are infectious from 4 days before the rash to around 4 days after. It is highly infectious.

Answer 41

Neonatal respiratory distress syndrome (NRDS) is caused by a lack of surfactant. Surfactant is produced by type 2 pneumocytes May show ground glass appearance on chest x-ray

Answer 42

Treatment of neonatal respiratory distress syndrome is with intratracheal instillation of artificial surfactant. Additionally, if preterm delivery is suspected, giving the mother glucocorticoids (dexamethasone) before delivery can increase surfactant production in the baby.

Answer 43

Hydroceles are confirmed with an ultrasound scan, which demonstrate simple fluid accumulated around the testicle.

Answer 44

Serial peak flow readings, both when symptomatic and asymptomatic, as the airflow obstruction is reversible Those suspected of having a high probability of asthma can be started on a trial of a short acting beta agonist (SABA) inhaler Where possible, spirometry should be performed in children Where cases are unclear, FeNO testing may be helpful Detailed History

Answer 45

All patients should receive a personalised written asthma plan. This should be regularly checked and updated. Use of a spacer is the preferred method method of delivery for inhaled treatments from a metred dose inhaler Step 1: Inhaled SABA PRN and consider monitored initiation of very low to low dose inhaled corticosteroid (ICS) Step 2: Add very low dose ICS (or leukotriene receptor antagonist (LTRA) if <5 years) Step 3: Very low dose ICS and: Age < 5 years old: add LTRA Age > 5 years old: add LTRA or LABA Additional add-on therapies: No response to LABA: Consider stopping LABA and increase ICS to low-dose If some benefit from LABA but still inadequate: increase ICS to low-dose If benefit from LABA and low-dose ICS but still inadequate: Consider trial of LTRA High dose therapies: Consider increasing ICS to medium dose ICS Addition of fourth drug e.g. theophylline Refer to patient for specialist care If the above is inadequate, use daily steroid tablet and maintain medium-dose ICS. Consider other treatments to minimise use of steroid tablets.

Answer 46

Minimal change disease is the most common cause of nephrotic syndrome in children (~70%) and is characterised by minimal histological changes to nephrological structures on light microscopy. It can be associated with a viral upper respiratory tract infection in the preceding weeks.

Answer 47

Patients suffering from minimal change disease typically present with oedema, including facial swelling Patients will also produce frothy urine If a child presents with nephrotic syndrome, they are presumed to have minimal change disease and treated for it empirically

Answer 48

Urine Dipstick - If the urinalysis is strongly positive for protein 3+ or 4+ in the absence of haematuria then nephrotic syndrome is very likely.

Answer 49

- Corticosteroid therapy: prednisolone - Second line therapy includes other oral immunosuppressive agents such as ciclosporin - Fluid restriction and reduced salt intake - Human albumin and furosemide

Answer 50

Spontaneous peritonitis Thrombosis Renal damage Increased risk of infections

Answer 51

Carotid pulse in children aged >1 years old Brachial or femoral pulses in infants

Answer 52

Child shows signs of life Further help arrives Rescuer becomes exhausted

Answer 53

ALL is a malignant clonal disease that develops when a lymphoid progenitor cell becomes genetically altered through somatic changes and undergoes uncontrolled proliferation. This eventually leads to ALL, characterised by early lymphoid precursors replacing the normal haematopoietic cells of the bone marrow and further infiltrating various body organs. Associated with Down's syndrome

Answer 54

Any children presenting in GP with bruising, enlarged lymph nodes and systemic illness should be referred for specialist assessment. Lymphadenopathy is the most common sign in ALL. Other symptoms which may be present include: hepatosplenomegaly, pallor or petechiae, fever, fatigue, dizziness, weakness, and epistaxis THREE CORE SIGNS: Neutropaenia (recurrent infections), Anaemia (pallor, fatigue), and thrombocytopaenia (purpuric rash)

Answer 55

diagnosed definitively through bone marrow biopsy

Answer 56

Six weeks: Good head control - raises head to 45 degrees when on tummy Six months: Sit without support - rounded back; rolls tummy (prone) to back (supine) - vice versa slightly later. 9 months: Stands holding on 12 months: Walks alone (12-18m). 18 months is threshold for concern. 18 months: Runs 2 years: Runs on tiptoes; walks up stairs - 2 feet per step 2.5 years: Kicks ball 3 years: Hops on one foot for 3 steps; walks up stairs 1 foot per step but still 2 feet per step on the way down. 4 years: Walks up and down stairs in an adult fashion

Answer 57

Tetralogy of Fallot is a relatively rare form of congenital cardiac disease Tetrad compromised of: - Ventricular septal defect (VSD) - Overriding aorta - i.e., an aorta that overrides the right and left ventricles as a result of the VSD - Right ventricular outflow tract obstruction (RVOTO), this is the main determinant of the severity of cyanosis - Right ventricular hypertrophy

Answer 58

Tetralogy of Fallot is most commonly diagnosed antenatally, or on detection of a murmur in the first few months of life. May also present with cyanosis Babies can present with tet spells, which are acute episodes of cyanosis. During a tet spell, there is reversal of the shunt across the VSD, resulting in a right-to-left shunt and worsening cyanosis.

Answer 59

This is an emergency and can be fatal Acutely: lie babies on their back and bend their knees. In hospital, oxygen should also be provided. Prophylaxis: propranolol may be used by some centres

Answer 60

Definitive management is via surgery where the RVOTO is corrected and the VSD is closed

Answer 61

brain damage resulting from ante- or perinatal hypoxia

Answer 62

Any poor oxygentation can cause HIE - Pre-partum (e.g., placental abruption) - During delivery (e.g., cord compression) - Post-partum (e.g., prolonged respiratory arrest).

Answer 63

Investigation of HIE is with EEG monitoring and multiple MRI brain scans Presentation ranges depending on degree of neurological damage ranging from mild (irritability) to severe (hypotonia, poor responses, prolonged seizures)

Answer 64

Management includes respiratory support, anticonvulsant therapy, careful fluid balance and electrolyte monitoring, and potentially the use of inotropes. Cooling the baby (to around 34 degrees) to induce mild hypothermia can also prevent further damage by secondary reperfusion injury.

Answer 65

Sudden onset, severe pain in one testicle Often follows minor trauma High riding in the scrotum Unilateral loss of cremaster reflex No relief in pain on elevation of the testicle (negative Prehn's sign)

Answer 66

Management involves expedited surgical exploration with fixation of the testicles with orchidoplexy.

Answer 67

Associated with future development of coronary aneurysms - echocardiogram recommended to assess long term risk of myocardial ischaemia secondary to coronary aneurysm

Answer 68

Can cause chronic constipation As the baby develops in utero, the distal colon is not innervated correctly. The resulting aganglionic colon is shrunken and not able to distend properly. This causes a back pressure of stool trapped in the more proximal colon.

Answer 69

Presents at brith with: - a delay in passing meconium (>48 hours) - a distended abdomen - forceful evacuation of meconium after digital rectal examination In later childhood, will have chronic history of constipation, poor response to movicol disimpaction regimes (laxatives) and poor weight gain

Answer 70

Confirmed with a rectal suction biopsy - will show an absence of ganglion cells in colonic submucosa Definitive management of Hirschsprung's disease is through removal of the section of aganglionic colon and the healthy bowel is pulled through.

Answer 71

Juvenile idiopathic arthritis (JIA) is an umbrella term for a range of arthritides affecting children and young people where the cause is not clear. JIA is a diagnosis of exclusion for children <16 years old who have persistent joint swelling (>6 weeks). Different kinds of JIA include polyarthritis, oligoarthritis and systemic forms.

Answer 72

Systemic signs followed by joint pain: - Fevers - Malaise - Salmon Pink rash - Joing involvement can be in one or multiople joints Diagnosis of exclusion (e.g exclude infections, malignancy and lupus)

Answer 73

- Flexion contractures (requiring physio and splints) - Joint destruction (requiring prostheses at young ages) - Growth failure (from steroids and chronic disease) - Anterior uveitis (causing visual impairment)

Answer 74

Psychological support to help coming to terms with using walking aids so early on in life medical management: - NSAIDs (symptom control only) - Steroids (intra-articular or oral) - Steroid-sparing agents e.g., methotrexate or biologics such as TNF-a inhibitors

Answer 75

Development of a fever above 40 degrees Coryzal symptoms Conjunctivitis followed by a rash about 2-5 days after onset of symptoms Koplik spots are small grey discolourations of the mucosal membranes in the mouth and appear 1-3 days after symptoms begin during the prodrome phase of infection. They are pathognomonic for measles infection.

Answer 76

1st: measles specific IgM and IgG serology (ELISA) is most sensitive 3-14 days after onset of the rash 2nd: measles RNA detection by PCR best for swabs taken 1-3 days after rash onset

Answer 77

Acute otitis media Bronchopneumonia Encephalitis Subacute sclerosing panencephalitis is a possible long-term complication, which can occur up to 10 years after initial measles infection

Answer 78

LIve attenuated vaccine

Answer 79

Supportive care which will normally include an antipyrexial Vitamin A in all children under 2 Ribavarin may reduce the duration of symptoms but its use is not routinely recommended

Answer 80

Pan-systolic murmur most likely VSD

Answer 81

Eisenmenger syndrome describes the reversal of a left-to-right shunt to a right-to-left shunt. It is thus an acquired right-to-left shunt.

Answer 82

Increased pulmonary pressures cause changes in the pulmonary vasculature resulting in pulmonary hypertension This results in the shunt reversing and is accompanied with right ventricular hypertrophy

Answer 83

Typically occurs in late teens Cyanosis May develop right heart failure rreversible and generally progresses to severe cardiac failure, often fatal by around age 40

Answer 84

Eisenmenger syndrome is best treated by prevention - i.e. identifying and promptly treating causes of left-to-right shunts Otherwise, the treatment for Eisenmenger syndrome would be a heart-lung transplant, or palliation if this is not an option

Answer 85

Transient synovitis is a benign cause of limp in children from inflammation of the synovial lining of the hip joint.

Answer 86

Transient synovitis is generally preceded by a viral infection (particularly upper respiratory tract infections) 1-2 weeks before the onset of pain and limp. The child may complain of pain in the hip itself or of knee pain (referred from the hip) and may have a low-grade fever.

Answer 87

Distinguishing transient synovitis ('irritable hip' as an inflammatory reaction after a viral infection) and early septic arthritis (bacterial infection of the joint) can be a clinical challenge. Both cause acute onset limp where the child avoids bearing weight and present with fever. Generally, the features of transient synovitis are milder than septic arthritis (mild/absent fever versus high fever, mild vs severe pain).

Answer 88

Investigations such as blood tests and imaging may be useful in providing evidence towards a diagnosis. For example, raised white cell counts and raised inflammatory markers point towards septic arthritis, but may be normal or raised in either condition. Similarly, ultrasound of the joint may show effusion and X-rays may be normal in either condition. If the history, examination, bloods and X-ray do not give a clear diagnosis, or if there is a high index of clinical suspicion for septic arthritis, a joint aspirate under ultrasound guidance and blood cultures should be taken. Microscopy, culture and sensitivity of the joint aspirate will distinguish between the two, as bacteria within the joint space confirms septic arthritis.

Answer 89

Transient synovitis is managed with supportive treatment. Transient synovitis generally resolves in around 7 days with minimal risk of long-term damage to the joint.

Answer 90

Initial investigations should include: FBC, CRP and blood culture. A blood culture should be taken before the first dose of antibiotics Strongly consider a lumbar puncture (LP). An LP is essential if neonatal meningitis is suspected. Chest X-rays should only be performed if there is a strong suspicion of a chest source NICE advises against a urine culture in early onset neonatal sepsis CRP should be repeated by 24-36 hours after the initial dose of antibiotics Empirical treatment: benzylpenicillin and gentamicin This is further adjusted based on culture results and the clinical picture Gentamicin levels require monitoring

Answer 91

Henoch-Schonlein Purpura (HSP) is the most common small vessel vasculitis in children. It most commonly affects children aged 3-5 years old.

Answer 92

Purpura or petechiae on the buttocks and lower limbs Abdominal pain Arthralgia Nephritis (haematuria +/- proteinuria) May be pyrexial HSP is commonly preceded by a viral upper respiratory tract infection

Answer 93

NSAIDs for analgesia and their anti-inflammatory effect Antihypertensives may be needed to control blood pressure After an episode of HSP, children should have regular urine dips for 12 months to check for renal impairment.

Answer 94

Transposition of the great arteries (TGA) is a cyanotic congenital cardiac defect where the origins of the aorta and pulmonary artery are swapped The most common form of congenital heart defect in infants of diabetic mothers

Answer 95

In normal development, the aortopulmonary septum spirals In TGA, this spiral doesn't happen, which means that the aorta leaves the right ventricle and supplies the body while the pulmonary artery leaves the left ventricle and supplies the lungs This in effect creates two parallel circulations and is not compatible with life without shunting via the ductus arteriosus and sometimes septal defects

Answer 96

Most diagnoses are made antenatally Neonates may be diagnosed postnatally when they are cyanotic at birth or may become cyanotic upon closure of the ductus arteriosus

Answer 97

Transposition of the great arteries requires surgery within the first few months of life to correct the defect Patients may be started on Prostaglandin E infusions while they await surgery

Answer 98

Spiral fractures are complete fractures of long bones that result from a rotational force being applied along the axis of a bone while the other extremity is planted. Spiral fractures in children are a common sign of physical abuse because they are a result of forceful jerking or twisting of a limb

Answer 99

Impetigo is a bacterial skin infection most often caused by Staphylococcus aureus or Streptococcus pyogenes. It can occur as a primary infection or as a complication of an existing condition, such as eczema. Impetigo presents with golden, crusted skin lesions usually around the mouth and nose.

Answer 100

With localised disease, first line treatment would be topical fusidic acid

Answer 101

Tonsillitis is a form of pharyngitis where there is intense acute inflammation of the tonsils, often with a purulent exudate in bacterial tonsillitis. Strep. Pneumoniae most common organism in recurrent tonsillitis. inchildren - EBV is another common cause

Answer 102

Bacterial more associated with cervical lymphadenopathy Viral more associated with headache, apathy and abdominal pain

Answer 103

CENTOR criteria: 1 point for each of the following - Tonsillar exudate - Tender anterior cervical lymphadenopathy - Fever over 38 - Absence of cough

Answer 104

A Centor criteria score of 3/4 would warrant prescribing antibiotics or evidence of systemic upset/immunosuppression would warrent a course of antibiotics: 1st line: Penicillin V 500mg PO QDS for 5-10 days Alternative in penicillin allergy: Clarithromycin/Erythromycin 250-500mg PO BD for 5 days

Answer 105

Low fibre diet Dislike of using toilet Pain on passing stool e.g., secondary to an anal fissure or very hard stool Not recognising sensation of needing to pass stool

Answer 106

Initial treatment of chronic constipation is with a movicol disimpaction regimen This is followed by maintenance movicol, alongside a high fibre diet and advice about encouraging good toileting habits

Answer 107

Conservative: Behavioural techniques Extra support at school. However, ADHD does not generally affect intellectual ability. Medical: Stimulant medication such as methylphenidate. These medicines have some activity in the frontal lobe thus increasing executive function, attention, and reducing impulsivity.

Answer 108

Muscular dystrophy includes a range of conditions where muscles gradually break down and get progressively weaker over time. The most common form of muscular dystrophy is Duchenne muscular dystrophy (DMD). Becker's muscular dystrophy is the second most common form, and one may view it as a milder version of Duchenne's muscular dystrophy. Caused by mutations that reduce expression of dystrophin - in duchenne its not expressed, in beckers. its at low level Both inherited by X-link recessive mechanisms so vast majority of cases are male

Answer 109

Muscle wasting and weakness in early childhood Usually wheelchair-bound before puberty and die from respiratory failure by their early twenties. Children may have bulky-appearing muscles, as degenerated muscle is replaced by fat. Parents may notice that the child 'slips through their hands' when they pick them up (due to loose muscles in the shoulder), and that they walk their arms up their legs when getting up from the floor (Gower's manoeuvre, sign of proximal muscle weakness).

Answer 110

Muscle wasting and weakness presents in late childhood - Usually become wheelchair-bound in their teens commonly survive into their thirties.

Answer 111

Genetic testing detects Duchenne's muscular dystrophy in most cases. It has replaced muscle biopsy as the gold standard diagnostic test. Muscle biopsies are sometimes performed, but they are not usually needed now that genetic testing is readily available A creatinine kinase (CK) can be used as a first-line test to screen for muscular dystrophy

Answer 112

Retinopathy of prematurity is a cause of visual impairment in premature babies. The mechanism of retinopathy of prematurity is thought to involve free radicals. Supplemental oxygen therapy creates free radicals which damage the retina and trigger proliferation of blood vessels on the retina. This can lead to retinal fibrosis, retinal detachment and ultimately blindness.

Answer 113

Indications for referral: Babies born at less than 32 weeks gestation or less than 1.5kg birth weight should be screened for retinopathy of prematurity with fortnightly fundoscopy by an ophthalmologist Treatment: laser therapy

Answer 114

Children with retinoblastoma present with a white eye reflex (loss of the normal red reflex) which parents might note on flash photography.

Answer 115

5 rescue breaths initially then 15 chest compressions followed by 2 breaths and repeat 2 breaths 15 comrpessions depth - 5 cm in adult sized children - babies and young children 2/3 chest depth

Answer 116

Septicaemia - risk of coning

Answer 117

Caused by lithium monotherapy normally large right atrium and small right ventricle, usually due to low insertion of the tricuspid valve, which also causes tricuspid incompetence

Answer 118

Vitamin D is required for bone mineralisation. Inadequate mineralisation causes soft bones, e.g. 'bowed femurs'. Children with rickets can present with: Aching bones and joints Poor growth and development Delayed dentition Weakness Constipation Prematurity is a risk factor for vitamin D deficiency. The diagnosis of rickets is made through a low blood level of vitamin D There may be additional radiological evidence such as bowed femurs and widened epiphyseal plates Management is oral vitamin D supplementation

Answer 119

The presence of meconium in the amniotic fluid may lead to development of meconium aspiration syndrome (MAS). MAS is caused by passage of the meconium from the amniotic fluid into the foetal lungs. This can cause blockage and inflammation of the airways and is associated with significant morbidity and mortality. Can stain the skin of a baby and aspiration can result in respiratory distress

Answer 120

Batteries Large objects that may become trapped at the pylorus Absorbent materials that may cause obstruction Magnets swallowed with metal objects Lead-based objects Objects containing toxins

Answer 121

Sudden shortness of breath Focal site of the chest findings A monophonic wheeze, especially in the right lower lobe of the lung is highly suggestive of an inhaled foreign body. As such, this should be visualized using a chest x-ray.

Answer 122

The majority of foreign objects that are swallowed can be managed conservatively. Investigations are unnecessary in an asymptomatic child with a low-risk ingestion. Endoscopy or open surgery may be required to retrieve a high-risk object.

Answer 123

Hyperactivity Impulsivity Inattention

Answer 124

A strangulated hernia is a hernia that is cutting off the blood supply to the intestines and tissues in the abdomen. This is an emergency.

Answer 125

Abdominal pain Vomiting Hernias can have an intermittent history of pain as the hernias are still reducible. Strangulated hernias are problematic as the blood supply to the part of the bowel that forms the hernia is blocked. The bowel that forms the hernia becomes ischaemic and necrotic. This can lead to sepsis and/or perforations.

Answer 126

Surgery is required to release the herniated bowel and/or remove any necrosed tissue. To strengthen the site of the abdominal wall that is weak (i.e. where the hernia was), a mesh or a specific suturing technique is used.

Answer 127

Cellulitis is a bacterial soft tissue infection of the dermis and subcutaneous tissue

Answer 128

Generally caused by Streptococcus and/or Staphylococcus organisms. Erythema Calor (heat) Swelling Pain Poorly demarcated margins Systemic upset: fever, malaise Lymphadenopathy Often evidence of breach of skin barrier e.g. trauma, ulcer etc CT orbit is the most important investigation in orbital cellulitis - will show depth of infection and any abscesses

Answer 129

Blood tests including culture Skin swab for culture Oral or IV antibiotics depending on severity Mark the area of erythema to aid in detection of rapidly spreading cellulitis Elevate if possible Wound debridement may be necessary

Answer 130

Croup, also known as laryngotracheobronchitis, is an infection of the upper airway. This causes inflammation which results in the upper airway becoming obstructed.

Answer 131

typically affects children aged 6 months to 6 years old - most common in children under 3 Parainfluenza virus is the primary cause accounting for the vast majority of cases Other viruses commonly infecting the upper respiratory tract can also cause croup e.g., adenovirus, influenza and RSV Bacteria can also cause croup, and these cases are a lot more severe

Answer 132

Classically presents with a barking, seal-like cough. Stridor may also be present - this can worsen if the child is upset Fevers Signs of increased work of breathing

Answer 133

Most cases are mild and dealt with in primary care with a single dose of dexamethasone More severe cases may require hospital admission for observation, oxygen and nebulosed budesonide if the child won't tolerate PO steroid Where are there significant concerns about the airway, nebulised adrenaline may also be used It is vital not to upset children with croup as their crying can worsen their upper airway obstruction

Answer 134

Maternal factors: - Maternal BMI and nutritional status (including poor weight gain during pregnancy) - Co-morbidities such as diabetes, anaemia, hypertension, infection, sickle cell anaemia, pulmonary or cardiovascular disease, renal disease, coeliac disease - Cigarette smoking, alcohol and substance abuse - Structural uterine malformations Foetal factors: - Chromosomal defects - Multiple pregnancy - Vertically transmitted infection (e.g. CMV, rubella, toxoplasmosis) Placental factors: - Utero-placental insufficiency - Pre-eclampsia

Answer 135

Otitis media is a common infection causing inflammation of the middle ear.

Answer 136

pain fever irritability anorexia vomiting often after a viral upper respiratory tract infection

Answer 137

Causes deep seated pain, impaired hearing with systemic illness and fever. The onset is usually rapid with a feeling of aural fullness followed by discharge when the tympanic membrane perforates with relief of pain. Tympanic membrane shows injection of blood vessels and then diffuse erythema. Bacterial infection is common particularly in young children.

Answer 138

Characterized by a dry tympanic membrane perforation without chronic infection.

Answer 139

This presents as persistent pain lasting a couple of weeks after the initial episode The drum looks abnormal and will show reduced mobility of the membrane.

Answer 140

Diagnosed when there is persistent purulent drainage through the perforated tympanic membrane.

Answer 141

Admit any children under 3 months with a temperature of 38 or more, or children with suspected acute complications of otitis media such as meningitis, mastoiditis or facial nerve palsy. Consider admitting any children who are very systemically unwell. Otherwise, treat pain and fever with paracetamol or ibuprofen. Most children will not require antibiotics. A delayed antibiotic prescribing strategy can also be appropriate. This involves asking patients/parennts to start taking antibiotics if symptoms don't improve within four days. Offer immediate antibiotic prescription to children who are systemically unwell (but don't require admission) or those at high risk of complications (e.g. immunocompromised patients).

Answer 142

Extra-cranial Complications of Otitis Media Facial nerve palsy: Acute otitis media can lead to a lower motor neuron lesion of the VII cranial nerve. Patients usually recover well with treatment of the otitis media. Mastoiditis: Infection can spread from the middle ear to form an abcess in the mastoid air spaces of the temporal bone. This leads to postauricular swelling pushing the auricle outwards and forwards. Mastoid tenderness will be present Petrositis: Infection spreading to the apex of the petrous temporal bone. There is a triad of symptoms which leads to Gradenigo syndrome: otorrhoea, pain deep inside the ear and the eye and ipsilateral VI nerve palsy. Labrynthtitis: Inflammation of the middle ear can lead to inflammation of the semicircular canals leading to the symptoms of vertigo, nausea, vomiting and imbalance. Intra-cranial Complications of Otitis Media Meningitis: An important and life threatening complication and can present with sepsis, headache, vomiting, photophobia and phonophobia. Sigmoid sinus thrombosis: Patients present with sepsis, swinging pyrexia and meningitis. Brain abscess: A patient will present with sepsis and neurological signs due to compression of cranial nerves.

Answer 143

Coeliac disease is a T cell-mediated inflammatory autoimmune disease affecting the small bowel in which sensitivity to prolamin results in villous atrophy and malabsorption.

Answer 144

Type 1 diabetes (associated disease) Autoimmune thyroid disease such as Graves disease or Hashimotos thyroiditis (associated disease) positive family history HLA-DQ2 allele

Answer 145

Stool culture is necessary to exclude infection. The gold standard diagnostic test is with OGD and duodenal/jejunal biopsy. Patients should be referred for this after positive serological testing (or negative serological testing but high clinical suspicion). Ideally this should be carried out before gluten is withdrawn from the diet and repeated after gluten withdrawal (to demonstrate resolution). Histology reveals sub-total villous atrophy, crypt hyperplasia, and intra-epithelial lymphocytes. Anti-TTG IgA antibody is measured first line - IgA level should be measured in conjuction

Answer 146

Anaemia (secondary to iron, B1 or folate deficiency) Hyposplenism (and therefore a susceptibility to encapsulated organisms) Osteoporosis (a DEXA scan may be required) Enteropathy-associated T cell lymphoma (EATL; a rare type of non-Hodgkin lymphoma). - The likelihood or acquiring this malignancy is directly proportional to the strength of overall adherence to a gluten free diet - i.e. the more a patient breaks adherence, the more likely they are to get EATL.

Answer 147

The only management for Coeliac disease is life-long gluten free diet. - Patients often require education regarding what foods contain gluten, for example many patients do not realise that beer contains gluten. Patients require regular monitoring to check adherence to a gluten-free diet and to screen for complications

Answer 148

Gastrointestinal symptoms - Abdominal pain - Distension - Nausea and vomiting - Diarrhoea - Steatorrhoea Systemic symptoms - Fatigue - Weight loss or failure to thrive in children - General appearance: check for pallor (secondary to anaemia), short stature and wasted buttocks (secondary to malnutrition), and features of vitamin deficiency secondary to malabsorption (e.g. bruising due to vitamin K deficiency). - Dermatological manifestations: dermatitis herpetiformis (pruritic papulovesicular lesions over the buttocks and extensor surfaces of the arms, legs, and trunk) - Abdominal examination: there may be abdominal distension.

Answer 149

Unconjugated bilirubin

Answer 150

Hydrocephalus is the result of an excess of cerebrospinal fluid (CSF) accumulating in the brain's ventricular system. This puts pressure on the brain parenchyma and can have devastating neurological consequences if not recognised and treated.

Answer 151

Causes of non-communicating hydrocephalus - In non-communicating hydrocephalus, something obstructs the flow through the ventricular system. This obstruction might be from: - a congenital malformation (e.g., stenosis of the aqueduct or a Chiari malformation) - a tumour or vascular malformation in the posterior fossa - an intraventricular haemorrhage (premature infants are particularly at risk) Causes of communicating hydrocephalus - In communicating hydrocephalus, a failure to reabsorb CSF occurs from an insult to the arachnoid villi - Examples causes include meningitis and subarachnoid haemorrhage

Answer 152

Hydrocephalus in infants presents with an enlarged head circumference. This might be noticed upon inspection or when plotting their growth. Other signs include bulging of the anterior fontanelle, distention of veins across the scalp A late sign is 'sunsetting' of the eyes, where upward gaze is limited Without treatment, raised intracranial pressure will lead to significant long-term neurological deficits in children with hydrocephalus Diagnosis is made with cranial ultrqasound (through the anterior fontanelle, whilst it is still open in the first few months of life) or by MRI/CT of the brain

Answer 153

Hydrocephalus is managed with insertion of a ventriculoperitoneal shunt, to move excess CSF into the abdominal cavity where it is reabsorbed Carers should be counselled to look out for signs of a blocked or infected shunt

Answer 154

Peripheral Features - Dry, thick skin - Brittle hair - Scanty secondary sexual hair Head and Neck Features - Macroglossia - Puffy face - Loss of lateral third of the eyebrow - Goitre (depending on cause) Cardiac Features - Bradycardia - Cardiomegaly Neurological Features - Carpal tunnel syndrome - Slow relaxing reflexes - Cerebellar ataxia - Peripheral neuropathy Auto-immune Causes - Hashimoto's thyroiditis - Anti-TPO (thyroperoxidase): 90-95% of patients - Anti-thyroglobulin: 35-60% of patients - Anti-TSH receptor (blocking): 10% of patients - Atrophic thyroiditis - Autoimmune polyendocrine syndromes Iatrogenic Causes - Surgical - Radioablation - Radiation Congenital Causes - Thyroid aplasia - Pendred syndrome (defect in thyroxine synthesis) Iodine deficiency/Excess Related Causes - Infiltrative - Sarcoid - Haemochromatosis Primary Autoimmune Hypothyroidism - Types of autoimmune thyroiditis include: - Hashimoto's thyroiditis - Atrophic thyroiditis - Autoimmune polyendocrine syndromes

Answer 155

Levothyroxine is first line to replace thyroxine. Risks include osteoporosis and cardiac arrythmias. Following stabilisation of dose, TSH should be checked annually.

Answer 156

Developmental dysplasia of the hip is an abnormality of the hip joint where the ball of the femur and acetabulum of the pelvis do not articulate properly during development, meaning that the joint can dislocate easily and will continue to develop abnormally

Answer 157

Risk factors for developmental dysplasia are the 5 Fs: - Female - Firstborn - Family history - Fanny first (breech) - Fluid (oligohydramnios).

Answer 158

The manoeuvres to screen for DDH are Barlow (posterior dislocation) and Ortalani (relocation on abduction of the hip) manoeuvres. Mnemonic to remember Barlow and Ortolani: Barlow's is Bad (dislocate) - ORTolani- ORThopaedic doctors relocate joints Diagnosis is confirmed with a hip ultrasound

Answer 159

In mild cases, DDH will be self-limiting within the first few months of life. More severe cases may necessitate a Pavlik harness or even surgery

Answer 160

Oppositional defiant disorder is a paediatric psychiatric diagnosis in which children show persistent defiant and hostile behaviour towards figures of authority, like a parent or teacher. The behaviour is not significant enough to be a serious disability in social functioning, unlike the more serious diagnosis of conduct disorder

Answer 161

Management of oppositional defiant disorder can be a challenge Parenting groups and techniques can be useful Family and behavioural therapy

Answer 162

Conduct disorder is a diagnosis given to patients under the age of 18 years old who show behaviour and attitudes that continuously disrespect and violate the rights of other people. It is more common in males Presents as physical agression, destructive behaviour, stealing

Answer 163

The prognosis of conduct disorder is generally poor: Around 50% of children with conduct disorder develop antisocial personality disorder Around 50% develop substance misuse issues Around 40% become recurring young offenders

Answer 164

Glandular fever, also known as infectious mononucleosis, is viral infection caused by Epstein Barr virus (EBV). It is transmitted by saliva, which is why it is also called the 'kissing disease'.

Answer 165

- Fever - Sore throat - Fatigue - Hepatomegaly and/or splenomegaly may sometimes be found on palpation EBV causes a mild infection in small children, but a more severe infection in teenagers; the fatigue can be quite debilitating and persist for weeks. The diagnosis of EBV infection is usually made clinically Although a heterophile antibody 'Paul Bunnell' test will be positive if performed

Answer 166

Supportive Advise against contact sports and heavy lifting for 1 month to minimise risk of splenic rupture

Answer 167

- 1st 10kg of bodyweight at 100ml/kg/day - 2nd 10kg of bodyweight at 50ml/kg/day - Remaining bodyweight at 20ml/kg/day The fluid type routinely used is 0.9% sodium chloride + 5% dextrose. Potassim is added as required depending on their U&Es. Paediatric electrolyte requirements - Sodium: 2-4mmol/kg/day - Potassium: 1-2mmol/kg/day

Answer 168

Boluses in paediatrics are given at 10-20ml/kg at a time The fluid used is 0.9% sodium chloride 10ml/kg boluses should be used when treating children who are in heart failure or are trauma victims Senior support should be sought if a child has not responded to 2 boluses

Answer 169

Firstly you should calculate the percentage dehydration. This is done either by one of the following ways: If their normal weight is unknown: Estimating their level of dehydration based on clinical signs from a fluid (hydration status) assessment If their normal weight is known: subtracting their current (dehydrated) weight from their normal weight dividing the result by their normal weight, and then multiply it by 100 You can then work out the fluid deficit (in ml) by multiplying the % dehydration by their weight (kg) then multiplying that by 10 Deficit replacement fluids should then be given spread out over a 24-48 hour period in children in addition to normal maintenance fluids

Answer 170

progressive obesity, hyperphagia, short stature and learning difficulties on a background of hypotonia Parents of children with Prader-Willi syndrome often report that their child will eat anything and everything and will be consistently hungry

Answer 171

Gastro-oesophageal reflux (GOR) is the passage of gastric contents into the oesophagus. It is considered physiological in infants when symptoms are absent or not troublesome Gastro-oesophageal reflux affects up to 40% of children during the first 6 months of life. It is common as the gastro-oesophageal sphincter is still developing.

Answer 172

As acid refluxes back up the oesophagus, babies commonly present with: Milky vomits after feeds. Crying/irritability Arching of the back Drawing up of the knees into the chest In some cases, these arching movements can be so strong that they can be mistaken for seizures.

Answer 173

Most management is conservative: Keep baby upright post-feeds and burp after feeds Keep cot on a slight incline Reassure parents that most cases will resolve as the baby grows and the cardiac sphincter matures Medical: Gaviscon (infant formulation) Omeprazole Surgical: Fundoplication

Answer 174

Wilm's tumour (nephroblastoma) is an embryonic tumour from the developing kidney. It the most common abdominal tumour in children. It is most common in children under 5 with a peak incidence between 3-4 years of age

Answer 175

Abdominal mass that doesn't cross the midline (but may be bilateral in up to 5% of cases) Abdominal distension Haematuria Hypertension Normally otherwise asymptomatic unless tumour has grown so large that it is causing pain or infiltrating/disrupting other abdominal structures

Answer 176

In patients with suspected nephroblastoma CT chest, abdomen and pelvis is indicated in order to identify the extent and spread of disease Definitive diagnosis and staging can be confirmed via renal biopsy. Small round blue cells may be seen on histology - though this is not exclusive to nephroblastomas.

Answer 177

Depends on staging and histological profile of the tumour Surgical options (nephrectomy), chemo- and radiotherapy are mainstay of management Excellent prognosis with over >90% 5-year survival rate

Answer 178

Vesicoureteric reflux (VUR) is the term for the abnormal flow of urine from the bladder into the upper urinary tract.

Answer 179

Vesicouretric reflux is diagnosed by a MCUG scan. MCUG is a diagnostic test to visualise the radio-opaque dye refluxing up into the ureters +/- kidneys. Risk factors are Male, neurogenic bladder, posterior urethral valves

Answer 180

Urine refluxes back up the ureters as there is either a short or absent valve where the ureters enter the bladder. Grade 1 – into ureters only Grade 2 – into pelvis causing no dilatation Grade 3 – into pelvis causing mild dilatation Grade 4 - into the pelvis causing moderate dilatation Grade 5 – through to calyces Presents with recurrent UTI and incomplete voiding - complications are: - Recurrent UTIs and subsequent complications (sepsis, scarring, abscesses) - Reflux nephropathy - CKD

Answer 181

Grades 1-3 often spontaneously resolve If VUR persists, complications arise or grade 4/5 VUR - surgery may be required

Answer 182

Malrotation is a rare but extremely important diagnosis to make. In malrotation, early in development the midgut rotates and fixates in an abnormal position. This abnormal position makes the bowel more prone to volvulus and for the duodenum to be compressed by peritoneal bands (Ladd bands) Presents wit bilious vomiting within the first day of life

Answer 183

The diagnosis of malrotation is confirmed with an upper gastrointestinal contrast study, which will identify the point of the obstruction (as no contrast can pass distally from this location). The proximal bowel may be shaped like a corkscrew. Malrotation must be managed with urgent surgery to relieve the obstruction

Answer 184

presents with a history of diffuse abdominal pain in the context of a previous upper respiratory tract infection. There may be a low-grade fever with generalized abdominal tenderness, generally around the righ iliac fossa. Examination of the mouth may reveal pharyngitis. Children usually present being quite well with no alteration in appetite. US abdomen will show enlarged mesenteric lymph nodes with a normal appendix. Importantly, the appendix may not always be visualized on US abdomen, so clinical presentation must be taken into account when ruling out appendicitis.

Answer 185

Often, children may be monitored overnight to look for worsening of their clinical status or safety netted about returning if any concerns arise. Mesenteric adenitis will improve spontaneously, appendicitis will not. The option to go to surgery must be used with caution.

Answer 186

Febrile convulsions (or febrile seizures) are very common in children aged 6 months to 6 years. Once they have had one febrile convulsion, there is a 30-40% chance that they will have at least one further febrile convulsion. Acute seizures are managed the same as any other seizure. Treatment of any underlying cause of the fever (if appropriate) There is no significant increased risk of developing seizure disorders or developmental problems later in life if the child has had a simple febrile convulsion.

Answer 187

West syndrome is a seizure syndrome which starts around age 4-8 months. It is also called infantile spasms. Children have seizures with myoclonic jerking, referred to as 'jack knife' spasms that occur in clusters. Associated with developmental regression and high morbidity. Infantile spasms are diagnosed by the history and by characteristic EEG findings of hypsarrhythmia.

Answer 188

Benign rolandic seizures affect children aged 3-10 years old and occur almost exclusively during sleep. Children characteristically have a tonic seizure overnight. This might be noticed by the parents if the child makes noises, or the child falls out of bed. They might also go unrecognised, but parents note that they find the child sleeping on the floor or with messy bedsheets in the morning. he diagnosis of benign rolandic seizures is made from the history and characteristic EEG findings during sleep of centro-temporal spikes Child will outgrow fits around puberty

Answer 189

- Egg allergy - children with egg allergy should not receive yellow fever vaccination - the standard preparation of the influenza vaccine is only contraindicated in children who have been admitted to PICU as a result of their egg allergy. All other cases of children with egg allergy can safely have the standard vaccine in primary care settings. - The MMR vaccine is safe for children with an egg allergy. It is a common misconception that it contains components from eggs. - Previous proven anaphylaxis to vaccine components - children with serology confirming allergy to vaccine components should not receive further doses of that particular vaccine. - Immunosuppression - children with immunosuppression (e.g. from confirmed severe primary immunodeficiencies, chemotherapy or other immunosuppressive medications, or radiotherapy) should not receive live attenuated vaccines, such as the MMR vaccine, inhaled influenza vaccine or the varicella vaccine. - Intussusception - children with a history of intussusception cannot have the rotavirus vaccination

Answer 190

Status epilepticus is a life-threatening neurological condition defined as 5 or more minutes of either continuous seizure activity or repetitive seizures without regaining consciousness.

Answer 191

This applies to an inpatient setting - Roll on side (if safe to do so) + high-flow oxygen + check glucose - First line treatment if seizure not resolved within 5 minutes: IV lorazepam or buccal midazolam or rectal diazepam - If seizure is continuing after 10 minutes: IV lorazepam - If seizure continues for another 10 minutes: IV lorazepam; call for senior support, including anaesthesia if not already done so - IV Phenytoin (IV phenobarbitone if patient normally takes phenytoin) - Rapid sequence induction with sodium thiopentone

Answer 192

Diagnosis of non-convulsive status epilepticus can be difficult, but recognition is crucial because rapid termination helps to prevent serious brain injury, especially in patients with impaired consciousness. In most cases, treatment must precede any thorough investigation and must be initiated as soon as status epilepticus is suspected. Complications of status epilepticus: - Focal neurological deficit (normally temporary) - Memory loss - Behavioural problems - Hypoxic brain injury

Answer 193

Oesophageal atresia describes a blind-ended oesophagus. A tracheo-oesophageal fistula is where there is communication between the trachea and oesophagus. 85% have a blind proximal oesophagus with the distal oesophagus having a fistula with the trachea

Answer 194

Antenatal: - Polyhydraminos. As the oesophagus is blind-ending, fluid cannot pass through the baby to be absorbed. This results in an accumulation of fluid outside the baby – hence the polyhydramnios. Postnatal: - Respiratory distress - Distended abdomen - Choking/problems with swallowing. The baby will have difficulty feeding and has overflow saliva. - Neonatal doctors will find difficulty passing NG tubes down

Answer 195

Oesophageal atresia requires surgical management to correct the anatomical abnormalities

Answer 196

Hodgkin's lymphoma are malignant lymphomas characterised by the presence of Reed-Sternberg cells. Risk factors are: - Epstein Barr Virus - HIV - Immunosuppression - Cigarette smoking

Answer 197

It typically presents in young adults with cervical or supraclavicular non-tender lymphadenopathy, though the location of diseased nodes can vary. Alcohol-induced pain is a suggestive symptom. There may be symptoms caused by compression of surrounding structures e.g. shortness of breath or abdominal pain. B symptoms (fever, night sweats, and weight loss), occur in 30% of patients. It is important to examine the patient for lymphadenopathy, and to check for hepatomegaly or splenomegaly. Lymph node biopsy with evidence of Reed Sternberg cells is diagnostic. Blood results can predict a poor prognosis via low haemoglobin and raised LDH, as they indicate high red cell turnover. Staging scans are required to elucidate the extent of disease.

Answer 198

Treatment is usually with chemoradiotherapy Prognosis is highly variable, with a 5-year survival rate of <40% to >95% depending on the type of disease.

Answer 199

Gastroenteritis is a common cause of diarrhoea and vomiting and can be caused by ingesting bacteria, viruses or toxins.

Answer 200

Bacterial causes The bacteria most commonly implicated are: - Staphylococcus aureus: usually found in cooked meats and cream products. - Bacillus cereus: mainly found in reheated rice. - Clostridium perfringens: usually found in reheated meat dishes or cooked meats. - Campylobacter - E.coli including E.coli 0157 (which can cause haemolytic uraemic syndrome) - Salmonella - Shigella Viral causes - Rotavirus: most common cause of infantile gastroenteritis - Norovirus: most common cause of viral infectious gastroenteritis in all ages in England and Wales - Adenoviruses: commonly cause infections of the respiratory system but can also cause gastroenteritis, particularly in children. Parasitic causes - Cryptosporidium - Entamoeba histolytica - Giardia intestinalis - Schistosoma

Answer 201

Gastroenteritis is usually managed conservatively with fluid replacement or oral rehydration sachets. If severe, antibiotics can be used: - Antibiotics are advised if the patient is: Systemically unwell, Immunosuppressed, Elderly Salmonella and shigella are treated with ciprofloxacin. Campylobacter is treatment with a macrolide, such as erythromycin. Cholera is treated with tetracycline, to reduce transmission. Food poisoning is a notifiable disease in the UK.

Answer 202

Noroviruses cause abrupt onset, usually short lived GI upset 24-48 hours after innoculation. It is typically self limiting in healthy people but can cause pre-renal acute kidney injury in the frail. Strict handwashing with soap and warm water are essential steps in limiting the spread in institutions such as hospitals, nursing homes, and cruise ships.

Answer 203

Cerebral palsy (CP) is a group of permanent movement disorders that occurs as a result of damage to a child's CNS involved in motor control. The lesion that occurs is non-progressive i.e., it does not get worse.

Answer 204

Antenatal / intrapartum - Hypoxic-ischaemic encephalopathy - Infection Post-natal - Meningitis - Trauma - Haemorrhage - Medication toxicity - Kernicterus Idiopathic

Answer 205

- Injuries from impaired balance/coordination - Aspiration pneumonias from impaired swallowing - Muscle wasting - Scoliosis and other MSK deformities from impaired posture and muscle control

Answer 206

Management requires specialist and MDT input to minimise and deal with complications of CP Physiotherapy to help with movement and strength exercises Occupational therapy may help with mobility aids, home adjustments and devices such as orthotics Speech and language therapy for swallowing assessments Dieticians if there are concerns regarding low intake due to swallowing difficulties Medical management: Baclofen for spasms Botox injections for contractures Surgical management: Orthopaedic surgery for MSK deformities / injuries / tendon releases General surgery if a PEG tube needs fitting

Answer 207

Immune thrombocytopenia purpura (ITP) is an autoimmune disease of unknown cause where the number of circulating platelets is reduced. n children it is a self-limiting disease following viral infection; in adults it is a chronic relapsing disease

Answer 208

FBC Blood film Bone marrow only required if atypical Further tests to exclude other differential diagnoses (e.g. aplastic anaemia, leukaemia, thrombocytic thrombocytopenic purpura)

Answer 209

Platelet transfusions should be avoided in the absence of life-threatening bleeding. Steroids are used in persistent cases, and splenectomy may be considered in refractory cases.

Answer 210

Six weeks: Good head control - raises head to 45 degrees when on tummy Six months: Sit without support - rounded back; rolls tummy (prone) to back (supine) - vice versa slightly later. 9 months: Stands holding on 12 months: Walks alone (12-18m). 18 months is threshold for concern. 18 months: Runs 2 years: Runs on tiptoes; walks up stairs - 2 feet per step 2.5 years: Kicks ball 3 years: Hops on one foot for 3 steps; walks up stairs 1 foot per step but still 2 feet per step on the way down. 4 years: Walks up and down stairs in an adult fashion

Answer 211

Airway: swollen lips/tongue, sneezing Breathing: wheezing, shortness of breath Circulatory: tachycardia, hypotension/shock, angioedema Gastrointestinal: abdominal pain, diarrhoea, vomiting Skin: urticaria, pruritis, flushed skin Can investigate by measuring serum levels of Mast cell tryptase to confirm diagnosis?

Answer 212

The critical treatment is adrenaline (1:1000, IM) (150mcg for under 6, 300mcg for between 6-12, 500mcg for 12+) General Management of anaphylaxis involves: Remove trigger if possible Call for help early Lie patient flat and raise legs Administer adrenaline When skills and equipment is available: Manage airway and administer high flow oxygen IV fluids if shocked Administer hydrocortisone (not urgent) Attach patient to monitoring Patients should be monitored for 6-12 hours after the initial presentation in case of a rebound episode Newly diagnosed patients (and their carers) with anaphylaxis should have the following before being discharged: Counselling on to use adrenaline auto-injectors Supply of 2 auto-injectors Written advice A referral to the local allergy service for follow-up

Answer 213

Innocent murmurs are very common benign murmurs that occur in around a third of children at some point during childhood. Examples include: Still's Murmur, Venous hum, Acute infective illness

Answer 214

The features of innocent murmurs can be summarised by the 6 S's. They do not all need to be present. These are: Soft Systolic (note: all diastolic murmurs are pathological) Sensitive (changes with the child's position / alongside respiration) Short (not holosystolic) Single (no additional sounds) Small (localised, non-radiating)

Answer 215

Innocent murmurs can be made more prominent when children have a febrile illness. If a murmur like this is discovered when a child has a febrile illness, the best option is to review the child in a few weeks. This will allow assessment of the murmur to see if it has resolved with the infection, in keeping with an innocent murmur. If the murmur persists, then further investigation (e.g. echocardiogram) could be considered.

Answer 216

Cyanotic heart disease refers to congenital heart defects resulting in a right-to-left shunt Examples: Transposition of the great arteries (here the aorta and pulmonary trunk have their insertions swapped around) Pulmonary and tricuspid atresias (resulting in the right side of the heart to be dead-end) Tetraology of Fallot (where pulmonary stenosis in combination with a large ventricular septal defect result in shunting at the ventricular level)

Answer 217

Usually made antenatally during routine scans If undetected antenatally, presentation occurs within the first few weeks of life with babies being visibly cyanotic The central investigation for these cases is echocardiography to characterise the anatomy and heart function

Answer 218

Definitive management of cases rests upon surgical correction of the defect or a heart transplant While awaiting definitive correction, some cases may be given prostaglandin E to maintain patency of the ductus arteriosus Ibuprofen is controindicated on patients with duct dependent leasion as it can result in the duct closing - COX inhibitor reduces synthesis of prostaglandins

Answer 219

Reye's syndrome is a neurological condition that occurs almost exclusively in children. Its cause is poorly understood. No cure exists and it is managed supportively. Some evidence links the development of Reye's syndrome with the use of aspirin while children have a viral infection As a result, aspirin is now a contraindicated antipyretic and anti-inflammatory in children given the vast majority of presentations fevers are caused by viruses and there is currently no rapid, definitive way of distinguishing between viral and non-viral causes. Abnormal liver function tests, vomiting and encephalopathy (slurred speech, lethargy, coma and potentially death).

Answer 220

Fragile X syndrome is a genetic condition caused by a CGG trinucleotide repeat in the FMR1 (fragile X mental retardation 1) gene on the X chromosome, affecting synaptic development. Fragile X syndrome is the most common inherited cause of learning disabilities.

Answer 221

Fragile X syndrome can have the following features: A long face Large, protruding ears Intellectual impairment Macroorchidism (large testes) - post-pubertal Social anxiety Autistic spectrum features

Answer 222

As with any patient with learning difficulties, a multidisciplinary team approach to management is required for fragile X syndrome.

Answer 223

In general, the causes of anaemia are classified as to whether they cause reduced red cell production, increased red cell destruction (haemolysis), or blood loss. Additionally, premature babies may also develop anaemia for a variety of reasons which come together as 'anaemia of prematurity'.

Answer 224

Iron deficiency Folic acid deficiency B12 deficiency Red cell aplasia (e.g. parvovirus B19 infection) Chronic renal failure Chronic inflammation

Answer 225

Glucose 6 phosphate dehydrogenase deficiency (G6PD) Hereditary spherocytosis (red cell membrane defect) Sickle cell disease Thalassemia Haemolytic disease of the newborn

Answer 226

Iron deficiency anaemia is a relatively common cause of anaemia in infants and children. It can be caused by reduced iron intake, poor iron absorption and/or chronic blood loss (e.g., menstruation). Excessive ingestion of cow's milk can cause iron deficiency in infants due to its low iron content and the fact that it reduces iron absorption.

Answer 227

Children and infants with iron deficiency may present with pica (urges to eat non-food things like soil) as an attempt to compensate for the missing mineral.

Answer 228

Clinical features in babies under 3 months Fever Vomiting Lethargy Irritability Poor feeding Failure to thrive Offensive urine Clinical features in babies 3-12 months Fever Poor feeding Abdominal pain Vomiting Clinical features in children above 1 year old Frequency Dysuria Abdominal pain Note: fever is less common once over 1 year old

Answer 229

Positive leukocytes and nitrites on urine dip Positive urine culture with appropriately collected urine (clean catch; non-contaminated collection pad/catheter sample/suprapubic aspirate) - clean catch is preferred but babies can't pee voluntarily

Answer 230

Oral antibiotics suffice in most cases unless urosepsis is suspected Note: a pregnancy test should be done in females of reproductive age to avoid teratogenic antibiotics Antibiotics should be guided by latest urine culture sensitivities (if available), local guidelines and patient's allergy status Lower UTIs are usually treated with nitrofurantoin Upper UTIs are usually treated with a cephalosporin

Answer 231

Ultrasound scan: this is done to identify structural abnormalities. It does not need to be done acutely unless a patient has an atypical UTI Dimercaptosuccinic acid (DMSA) scintigraphy scan: checks for scarring. It should not be done until at least 4 months after the UTI Micturating cystourethrogram (MCUG) to assess for abnormal bladder function

Answer 232

A UTI is classed as atypical if any of the following are present: Poor urine flow Abdominal or bladder mass Raised creatinine Septicaemia Failure to respond to treatment with suitable antibiotics within 48 hours Infection with non-E. coli organisms Children who do not require follow-up imaging do not need routine GP or paediatric follow-up Children with recurrent UTIs should be referred to secondary care for further investigation, especially babies who have faltering growth

Answer 233

Renal scarring and CKD Sepsis

Answer 234

This refers to the condition where the ductus arteriosus remains patent after 4 weeks of life.

Answer 235

A persistent ductus arteriosus may be asymptomatic or present with signs of heart failure. The classical murmur heard is a continuous 'machine-whirring' murmur throughout the cardiac cycle.

Answer 236

Treatment of a persistent ductus arteriosus is only required if the baby is symptomatic About 1/3 of patients with a patent ductus arteriosus require medical treatment with an NSAID. NSAIDs inhibit prostaglandin synthesis which normally help maintain ductal patency. Paracetamol may be used instead of an NSAID. Medical closure of PDAs are more successful in premature babies. Around 8% of patients will require surgical ligation to close the ductus arteriosus.

Answer 237

Regular changing and washing the groin area Exposing the area to air as much as possible Avoiding over moisturising will also help prevent rash formation

Answer 238

Intussusception describes invagination (telescoping) of proximal bowel into a distal segment (commonly ileum) passing into the caecum through the ileocaecal valve Peak ages between 3 months and 2 years old

Answer 239

Complications include: Bowel perforation Peritonitis Gut necrosis

Answer 240

It presents with paroxysmal, severe colicky pain and the child characteristically draws up his legs. Tripod position The child recovers but becomes increasingly lethargic. Other symptoms include: May refuse feeds Vomiting may be bile stained depending on site of intussusception Passage of red currant jelly stool compromising of blood-stained mucus Abdominal distension Sausage-shaped mass may be palpated in the abdomen An abdominal ultrasound will show classic 'target' sign (concentric echogenic and hypoechogenic bands) and can also show complications of disease such as free-abdominal air or presence of gangrene.

Answer 241

Rectal air insufflation or contrast enema (only to be performed if child is stable) Operative reduction indicated if – Failure of non-operative management Peritonitis or perforation is present Haemodynamically unstable

Answer 242

If conscious and coughing - encourage to cough to dislodge the obstruction If conscious but unable to cough - alternate between giving 5 back blocks and 5 (chest for infant/ abdominal thrust for child) If unconscious then 5 rescue breaths should be given before immediately starting CPR - if small object like grape, breaths might be a good idea first to dislodge as grape the size of breathing hole in baby

Answer 243

Caput succedaneum occurs in the newborn as a result of the pressure of the top of the infant's skull against the dilating cervix during labour It manifests as a subcutaneous serosanguineous fluid collection superficial to the cranium but below the skin. Does not require treatment and resolves spontaneously over a few days

Answer 244

6 weeks Smiles No smile by 6 weeks 3 months Laughs 6 months Holds and eats food, Stranger anxiety 10 months Waves goodbye 24 months Play next to other children 36 months Eats with a fork Bowel control Plays with other children Can play alone without carers nearby 48 months Bladder control (girls develop this earlier than boys) Can dress and undress self At 3.5 years children should be engaging in interactive play and absence suggests problems

Answer 245

Meiotic non-disjunction - most cases resulting from an error during meiosis which leads to a gamete with 2 copies of chromosome 21 being produced. The incidence of trisomy 21 resulting from non-disjunction is related to maternal age

Answer 246

If patient is alert, not significantly dehydrated and able to tolerate oral intake without vomiting --> encourage oral intake and give subcutaneous insulin injection If patient is vomiting, confused, or significantly dehydrated --> give IV fluids (initial bolus of 10ml/kg 0.9% NaCl then discuss with a senior) and insulin infusion at 0.1 units/kg/hour 1hr after starting IV fluids. If there is evidence of shock, the initial bolus should be 20ml/kg. If patient is shocked or comatose --> ABCDE approach for emergency resuscitation Do not stop intravenous insulin infusion until 1 hour after subcutaneous insulin has been given.

Answer 247

Bronchiolitis obliterans (constrictive bronchiolitis) is a rare condition associated with permanent obstruction of the bronchioles due to chronic inflammation which leads to scar tissue formation.

Answer 248

It is commonly caused by viral infections. Adenovirus is the most common cause. It can also follow bone marrow or lung transplants.

Answer 249

Symptoms are progressive and normally include: Dry cough Shortness of breath Hypoxia Wheezing Lethargy

Answer 250

Chest X-rays can often appear normal so diagnosis is often made using a CT scan or lung biopsy. A significantly reduced FEV1 is noted in bronchiolitis obliterans and careful monitoring is useful in detecting the conditions in lung transplant patients. In bronchiolitis obliterans the FEV1 is 16-21%. More recently repeat CT scans have been used to detect early lung changes allowing for an earlier diagnosis compared to serial FEV1 measurements.

Answer 251

There is no cure for bronchiolitis obliterans Immunosuppressive agents like tacrolimus, cyclosporin, mycophenolate mofetil, and prednisone has been used to treat bronchiolitis obliterans after transplant

Answer 252

Osteosarcoma is the most common bone cancer in paediatric patients. Pain and swelling with a prolonged onset are characteristic Typically occurs in the metaphyses of long bones

Answer 253

The X-ray findings of new bony growth and a periosteal reaction causing a sunburst appearance are typical of osteosarcoma Signs visualised on X-ray should prompt and urgent full body CT in order to assess for any metastases. The definitive diagnosis is confirmed using bone biopsy taking into account the clinical picture and radiological findings.

Answer 254

MDT approach, which may include surgery, radiotherapy and chemotherapy

Answer 255

Precocious puberty should be considered whenever secondary sexual characteristic appear before 8 years of age in females and before 9 years of age in males. Can be either dependent or independent of gonadotrophin

Answer 256

Idiopathic (>90%) Brain tumours Cranial radiotherapy Structural damage to the brain, for example, from: Hydrocephalus Post-infection (meningitis) Traumatic head injury

Answer 257

Gonadal tumours Adrenal or liver tumours (may cause virulisation) Congenital adrenal hyperplasia

Answer 258

Left untreated it can lead to accelerated skeletal development and bone plate fusion resulting in a reduced final height. The early onset of the physical changes experienced can also have a significant impact on the affected child's psychological wellbeing.

Answer 259

These will usually be led by a specialist. They include: Oestradial/testosterone Adrenal androgens Brain MRI Pelvic ultrasound Intra-abdominal imaging if adrenal or hepatic tumour suspected Bone age

Answer 260

GnRH analogues can play a role to suspend progression of puberty

Answer 261

Enlargement of the testes >4ml in boys and development of the breasts in girls

Answer 262

Transient tachypnea of the newborn (TTN) is a parenchymal lung disorder characterised by pulmonary oedema resulting from delayed resorption and clearance of foetal alveolar fluid. It is the commonest cause of respiratory distress in the term baby. Presents as Respiratory distress (tachypnoea, increased work of breathing and potentially desaturated/cyanotic) TTN is diagnosed both clinically and by hyperinflated lungs and a fluid level on chest X-ray

Answer 263

TTN commonly occurs after a C-section as passage through the birth canal applies external pressure on the thorax to help expel the fluid. Some babies have delayed resorption of the fluid due to suboptimal epithelial clearance.

Answer 264

Oxygen support TTN should resolve in a couple of days with resorption of lung fluid within the first 3 days of life. Oxygen support might be required for several days more.

Answer 265

Tuberous sclerosis is an autosomal-dominant, neurocutaneous syndrome characterised by cellular hyperplasia, tissue dysplasia, and hamartomas involving multiple organs. Caused by 2 gene loci: TSC1, found on chromosome 9q34 - hamartin; TSC2, found on chromosome 16p13 - tuberin

Answer 266

Infantile spasms with hypsarrhythmia seen on electroencephalogram Skin: Ash leaf macules; Shagreen patches (hypopigmented macules); facial angiofibromas; subungual fibromas Neurological/Cognitive: Learning disabilities; Sub-ependymal nodes; Seizures/Epilepsy Renal: Angiomyolipomas Cardiac: Cardiac rhabdomyomas

Answer 267

Angiofibromas <2mm in diameter will respond to laser therapy Angiofibromas >2mm in diameter require dermabrasion or surgical resection Many patients with renal disease will require anti-hypertensive therapy Tubers should be regularly imaged and may require surgical resection

Answer 268

Mild depression can be managed with wathcful waiting and advice about healthy habits Consider referral to CAMHS for children with moderate to severe depression. Treatment options include: Full assessment Psychological therapy (first line) Fluoxetine (first line antidepressant in children under 18; followed by Sertraline and Citalopram) Admission may be required if there is high risk of self harm, suicide or self-neglect

Answer 269

Tanner staging for pubic hair (both sexes) Pre-pubertal: no pubic hair Some downy hair at the base of the penis in males or over the labia majora in females Coarser, thicker and curlier hair that spreads laterally to cover more of the pubis Adult hair, not spreading to the thighs Adult hair, spread to the medial thighs Tanner staging for females Breast changes: Prepubertal Breast bud Juvenile with smooth contour Areola and papilla project above breast Adult contour Tanner staging for males Male genital changes: Prepubertal, testicular volume <1.5ml Penis grows in length only, testicular volume 1.5-6ml Penis grows further in length and circumference, testicular volume 6-12ml Development of glans penis, darkening of scrotal skin, testicular volume 12-20ml Adult genitalia, testicular volume >20ml

Answer 270

It is most commonly associated with maternal Systemic Lupus Erythematosus. It is linked to the presence of maternal anti-Ro and/or anti-La antibodies, although the exact mechanism is poorly understood. If child is symptomatic, they will require a pacemaker

Answer 271

Perthes disease is avascular necrosis of the femoral head in children aged 4-8. Disruption of blood flow to the femoral head causes ischemia.

Answer 272

Ischaemia in Perthes disease presents with gradual onset limp and hip pain. Pain can also be referred to the knee. Pain from transient synovitis would be similar, but would only last around 2 weeks and should have preceeding viral illness; pain persisting for >4 weeks should raise suspicion for Perthes disease.

Answer 273

Diagnosis of Perthes disease is with a hip X-ray, which shows sclerosis and fragmentation of the epiphysis. An X-ray may be initially normal, and so should be repeated later if clinical suspicion persists.

Answer 274

If less than 50% of the femoral head is involved, the condition can resolve with conservative measures like bed rest and traction. Outcomes in this context are good. If more than 50% of the femoral head is involved, a plaster cast keeping the hip abducted or osteotomy may be required. This has poorer outcomes, and carries a high risk for degenerative arthritis later in life.

Answer 275

Streptococcus Pneumoniae.

Answer 276

Macrolide antibiotics like clithromycin or erythromycin

Answer 277

Procalcitonin is an emerging blood test that shows specificity for inflammatory markers and can help detect bacterial sepsis.

Answer 278

Sickle cell disease is a disease of red blood cells caused by an autosomal-recessive single gene defect in the beta chain of haemoglobin, which results in sickle cell haemoglobin (HbS). Sickled red bloods cells can clump together and obstruct blood flow and break down prematurely. They are associated with varying degrees of anaemia. Obstruction of small blood capillaries can cause painful crises, damage to major organs, and increased vulnerability to severe infections.

Answer 279

Vaso-occlusive crises Anaemia Iron overload - due to repeated transfusions Jaundice Avascular necrosis of the hip or shoulder Stroke Dactylitis in infants and children Aplastic crisis - typically from parvovirus-B19 infections Priapism - this is an emergency and urology should be contacted urgently Splenic sequestration Pulmonary hypertension Growth and developmental delay Prolferative retinopathy and retinal haemorrhages Leg ulcers

Answer 280

These are a common, painful complication of sickle cell disease Sickled red blood cells clump together and occlude vessels, resulting in ischaemia of downstream tissues The most common complaint is of pain, and recurrent episodes may cause irreversible damage One of the most severe forms is the acute chest syndrome which occurs as a result of infarction in the lung parenchyma

Answer 281

Strong pain relief (IV opiates) is a priority Oxygen as required and IV fluids are normally given in addition to this Treat any suspected infections Top-up transfusions may be required Haematology input should be sought Incentive spirometry and physiotherapy should additionally be used in cases of acute chest syndrome to minimise the risk of atelectasis Long term management is: Top-up transfusions, folic acid and iron chelation are the mainstay of regular supportive treatment Immunisations: influenza and pneumococcal Prophylactic penicillin if asplenic Genetic counselling available

Answer 282

An aplastic crisis (reticulocytes <1%) is also known as transient red cell aplasia or reticulocytopaenia. Aplastic crisis in Sickle Cell Disease is characterised by the combination of tachypnoea, tachycardia in the absence of splenomegaly. Given the absence of pain, jaundice, fever, pain and splenomegaly this is the most likely complication

Answer 283

Same as aplastic crisis but with splenomegaly and jaundice

Answer 284

Pertussis (whooping cough) is a severe URTI characterised by severe bouts of spasmodic coughing, which may lead to apnoea in infants, followed by characteristic gasping for breath. Caused by Bordetella pertussis A pertussis vaccine exists and is part of the routine immunisation schedule in the UK Some breakthrough cases of pertussis occur despite children being vaccinated

Answer 285

Cough, with prolonged period of coughing per episode Inspiratory whooping Rhinorrhoea Post-tussive vomiting Apnoeas

Answer 286

Macrolides are typically first-line i.e clarithromycin If antibiotics are started late, they may not alter the course of illness for the patient, but still have benefit in minimising transmission to other people Pertussis is a notifiable disease If child has cough for more than 21 days do not treat with macrolide, send home and manage with paracetamol

Answer 287

Reflex anoxic seizures are a common benign cause of seizure in children from a temporary lack of blood flow to the brain Have a precipitating trigger such as sudden pain or vomiting causes over stimulation of vagus nerve No post ictal confusion Management is reassurance

Answer 288

Breath holding spells are episodes where young children hold their breath during periods of crying to the point that they faint. The faint can even be accompanied by turning blue and jerking of the limbs. The child recovers quickly with no post-ictal confusion. Diagnosed through history alone - management is again reassurance - tends to subside as they grow older

Answer 289

Pseudomonas aeruginosa

Answer 290

Streptococcus pneumoniae

Answer 291

A narrowing of the aorta. It is typically just before the ductus arteriosus.

Answer 292

Presentation varies dramatically depending on the site and severity of the coarctation. It can be asymptomatic if mild. Otherwise presentations include: Incidental finding on ausculation of a systolic murmur. Typically heard loudest between the scapulae. Radio-femoral delay (+/- radio-radial delay depending on the site and severity of the coarctation) ( a delay between the upstroke of the right radial pulse and a femoral pulse) If the coarctation is severe, neonates present in shock once the ductus arteriosus closes due to low perfusion pressures after the coarctation - prostaglandin e will keep ductus arteriosus open Hypertension (either symptomatic or incidentally found) Heart failure

Answer 293

Coarctation is monitored via echocardiography and antihypertensives are used to control blood pressure if needed Most cases requiring intervention are corrected via angioplasty and stent insertion Severe cases require surgery Neonates presenting in shock due to critical coarctation require prostaglandin to keep the ductus arteriosus patent until the defect is corrected

Answer 294

An atrial septal defect (ASD) is a relatively common cardiac malformation where there is a hole between the left and right atria (caused by a defect in the septum secundum during development).

Answer 295

May be totally asymptomatic Incidentally found via by hearing an ejection systolic murmur on auscultation The murmur is heard loudest on the lower-left sternal edge and is a flow murmur through the pulmonary valve Patients may present in heart failure if they decompensate Confirmed via echocardiogram Complications include heart failure - typically in twenties or thirties, and paradoxical embolisms

Answer 296

Depends on the severity of the lesion. Most ASDs are managed conservatively but some require surgery. ASDs are kept under surveillance via routine echocardiograms

Answer 297

Fluoxetine

Answer 298

Potter's sequence describes the typical physical appearance caused by pressure in utero due to oligohydramnios. The olighydramnios can occur due to a range of variety of reasons. When it is a result of bilateral renal agenesis, it is called Potter Syndrome. It is called Potter sequence to reflect that the phenotype results due to a sequence of events resulting form the oligohydramnios: Renal tract complications result in reduced amniotic fluid production The lack of amniotic fluid results in foetal compression causing the characteristic facial and limb features The lack of amniotic fluid also affects lung development, causing pulmonary hypoplasia

Answer 299

Flattened 'parrot-beaked' nose Clubbed Feet Recessed chin Downward epicanthal folds dry loose skin Smaller lung fields ( can lead to baby having respiratory distress at birth Low-set, cartilage-deficient ears (known as 'Potter's ears')

Answer 300

Signs and symptoms consistent with presentation of a brain tumour include: Persistent headaches that are worse in the morning Signs of raised intracranial pressure Seizure in an older child with no fever and no previous history of seizures

Answer 301

Astrocytoma: Most common brain tumour in children. graded from 1 (pilocytic astrocytoma) to 4 (glioblastoma multiforme). Grade 1 tumours have an excellent prognosis as opposed to grade 4 tumours (95% vs 20% 5-year survival). Medulloblastoma: Second most common brain tumour in children. Highly aggressive. Meningioma (tumours of arachnoid cells of the meninges) Craniopharyngioma: Originates from the pituitary gland and can present with homonymous hemianopia from pressure on the optic chiasm Ependymomas (tumours of the cells of the ventricular system)

Answer 302

Suspected space occupying lesions are investigated with imaging of the brain (MRI or CT) Highly dependent on the tumour site, size, type and staging Requires specialist input and MDT management, and may involve chemotherapy, radiotherapy and surgery

Answer 303

Jaundice developing within the first 24 h of life is always pathological. Causes include Rhesus haemolytic disease and ABO incompatibility, both of which can be detected by direct Coombs test. Other causes include glucose-6-phosphodehydrogenase (G6PD) deficiency and congenital infections which can be diagnosed by G6PD assay and TORCH infection screen, respectively.

Answer 304

High lactate

Answer 305

A branchial cyst is an embryological remnant from the development of the branchial arches which form parts of the head and neck.

Answer 306

It manifests as a painless cystic mass anterior to the sternocleidomastoid muscle just below the ear that typically becomes apparent in late childhood. Can be managed conservatively or surgically excised

Answer 307

Prader-Willi syndrome is a genetic condition that is inherited by genomic imprinting. In imprinting, gene expression is influenced by whether the gene was inherited from the mother or the father. Imprinting can be caused by several mechanisms, including: (a) deletion of either the maternal or paternal copy of an allele (b) inheritance of 2 copies from one parent and none from the other (uniparental disomy) On chromosome 15 - is maternal copy - if maternal copy is deleted and only paternal is expressed then its angelman's syndrome

Answer 308

Hypotonia and poor feeding in infancy Developmental delay in early childhood Learning disabilities Short stature Hyperphagia and obesity in older childhood. Parents commonly report children will eat anything and everything and be hungry all the time, to the extent that they have to lock everything in the house and the child will even eat bars of soap if left unsupervised. confirmed with genetic testing management in MDT approach - with focus on managing excessive eating. to avoid complications of obesity

Answer 309

Ewing's sarcoma makes up 14% of all bone sarcoma diagnoses making it the second most common bone cancer in children and adolescents.

Answer 310

It most commonly affects teenagers and young adults with the pelvis, thigh bone and shin bone being the most commonly affected areas. Bone pain particularly occurring at night A mass or swelling Restricted movement in a joint Diagnosis is made via a bone bioposy and management is with surgery, radiotherapy and chemotherapy

Answer 311

Infants at risk of hypoxic ischaemic encephalopathy are those >42 weeks who get stuck during a prolonged labour. HIE is a common antenatal cause of cerebral palsy. Children with cerebral palsy present with delayed achievement of motor milestones and hypertonia

Answer 312

Congenital Adrenal Hyperplasia (CAH) is a genetic defect in one of the enzymes involved in the synthesis of steroid hormones in the adrenal cortex. 90% of which is caused by 21-hydroxylase deficiency. There is virilisation of the female external genitalia due to overproduction of ACTH and subsequently adrenal androgens, and a salt wasting crisis caused by deficiency of aldosterone. These patients have raised 17-A-hydroxylase

Answer 313

Presentation is variable and depends on which in the biosynthetic pathway the defect lies. Ambiguous genitalia Hypotension Salt-wasting crises and dehydration Vomiting Virilisation Precocious puberty (males)

Answer 314

Immediate treatment includes replacing fluid and sodium with intravenous saline (if salt-wasting), and giving hydrocortisone which exerts both a glucocorticoid and mineralocorticoid effect. Lifelong treatment with replacement of the deficient hormones is usually necessary: hydrocortisone and fludrocortisone as appropriate Virilised females may require surgery Those who are steroid dependent should be counselled about the importance of taking their medication and about sick day rules.

Answer 315

Oral methotrexate - polyarticular Intra-articular methylprednisolone acetate injection - oligioarticular JIa (4 or fewer joints)

Answer 316

hypotonia, macroglossia, an umbilical hernia, reduced feeding and constipation (mild soft abdominal distention) Will present with raised TSH which can be seen on heel prick test taken at 5-8 days of life

Answer 317

Juvenile dermatomyositis (JDM) is the paediatric form of dermatomyositis.

Answer 318

Fatigue Joint pain Weakness of proximal muscles Malar rash Heliotrope rash over eyelids

Answer 319

Bloods may show: Raised ESR Raised creatine kinase (CK) In addition to bloods indicating JDM, diagnoses can be confirmed via: MRI scans showing muscle oedema Muscle biopsies Nailfold capillaroscopy showing microangiopathy

Answer 320

Steroids during acute flares Steroid-sparing immunosuppression for maintenance

Answer 321

It is common for newborn babies to have Vitamin K deficiency, especially if exclusively breastfed. The features of Vitamin K deficiency are bruising more easily, and, if severe enough, internal bleeding. Haemorrhagic disease of the newborn is potentially life-threatening as newborn babies progress rapidly into haemorrhagic shock

Answer 322

Subcutaneous Vitamin K injections are routinely offered at birth to prevent haemorrhagic disease of the newborn Oral vitamin K replacement is also available but is not as reliable

Answer 323

Periventricular damage (due to a hypoxic ischaemic event during a prolonged delivery due to the baby getting stuck) is the aetiology behind spastic diplegia. The gait is classically termed as scissor walking

Answer 324

Salmonella typhi - This patient has sickle cell disease, and is susceptible to Salmonella osteomyelitis

Answer 325

Neisseria meningitidis

Answer 326

Bacterial tracheitis is a rare but dangerous condition that presents similar to viral croup but the child has a high fever and has rapidly progressive airway obstruction with copious thick airway secretions. It is most commonly caused by Staphylococcus aureus, typically following a viral upper respiratory tract infection. IV antibiotics are required in severe cases Some cases may require intubation

Answer 327

Phenylketonuria (PKU) is a condition caused by an autosomal recessive mutation in the phenylalanine hydroxylase enzyme. Deficiency of this enzyme causes levels of phenylalanine to build up to toxic levels in the blood, which causes irreversible damage to the nervous system.

Answer 328

If not detected during the newborn screen, presentations include: Seizures Poor growth Hypopigmentation resulting in fair skin and hair Musty body odour Long term complications as a result of undiagnosed or poorly managed PKU include intellectual impairment, seziures, hyperactivity and an increased risk of eczema.

Answer 329

PKU is managed with a lifelong low-protein diet and supplemental amino acids to avoid phenylalanine. Patients with PKU must also be careful to avoid food and drink containing the artificial sweetener aspartame, as this is converted to phenylalanine. Aspartame is in diet fizzy drinks, sugar-free squash drinks and some kinds of chewing gum If the child's diet is managed early and consistently, they can go on to lead normal healthy lives

Answer 330

In Developmental dysplasia of the hip with subsequent length discrepancy - galleazi's test is used to indicate whether the shortening is femoral or tibial

Answer 331

Delayed puberty is classed as no pubertal development by the age of 14 in boys and 13 in girls.

Answer 332

The most common cause of delayed puberty is constitutional delay of growth and puberty, in which children are 'late bloomers' and enter normal puberty later than their peers. They will eventually reach full normal height and development. Other (much less common) causes of delayed puberty include those associated with low and high gonadotrophin secretion. Low gonadotrophin secretion induces pituitary disorders (craniopharyngiomas, Kallmann syndrome, panhypopituitarism or isolated gonadotrophin deficiency), hypothyroidism, or systemic disease (e.g. cystic fibrosis or Crohn's). High gonadotrophin secretion causes include chromosomal disorders (Turner's XO, Klinefelter's XXY), congenital adrenal hyperplasia, or acquired hypogonadism (e.g. after chemotherapy)

Answer 333

Constitutional delay is confirmed with a hand-wrist X-ray to confirm bone age, which is delayed in constitutional bone delay because the epiphyseal plates are late to fuse.

Answer 334

Pierre Robin sequence or syndrome is a genetic condition in which an infant is born with micrognathia (small jaw), glossoptysis (posterior tongue) and often cleft palate. As a result the infant may have breathing or feeding difficulties shortly after birth.

Answer 335

Initial management involves airway management and feeding support. Physiological effects usually resolve within 3–6 months however surgical repair may be indicated, particularly in cases which co-exist with a cleft palate. Most babies with Pierre Robin sequence will grow up to lead healthy adult lives.

Answer 336

Asystole is the most common finding at paediatric cardiac arrests. It is not entirely clear why. However, there is speculation that this is the most common rhythm as a result of respiratory causes being the most common cause of paediatric arrest, with hypoxia causing profound bradycardia and asystole in severe cases

Answer 337

Symptoms include: lethargy weakness weight gain loss of libido erectile dysfunction gynaecomastia depression It is also associated with infertility and osteoporosis.

Child Health Flashcards

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