Paediatrics Flashcards

Question

Who should be admitted with croup?

Answer 1

CKS suggest admitting any child with moderate or severe croup. Other features which should prompt admission include: < 6 months of age known upper airway abnormalities (e.g. Laryngomalacia, Down's syndrome) uncertainty about diagnosis (important differentials include acute epiglottitis, bacterial tracheitis, peritonsillar abscess and foreign body inhalation)

Answer 2

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

Answer 3

Cystic fibrosis (CF) is an autosomal recessive disorder causing increased viscosity of secretions (e.g. lungs and pancreas). It is due to a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which codes a cAMP-regulated chloride channel In the UK 80% of CF cases are due to delta F508 on the long arm of chromosome 7. Cystic fibrosis affects 1 per 2500 births, and the carrier rate is c. 1 in 25

Answer 4

Organisms which may colonise CF patients Staphylococcus aureus Pseudomonas aeruginosa Burkholderia cepacia* Aspergillus

Answer 5

Presenting features neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice recurrent chest infections (40%) malabsorption (30%): steatorrhoea, failure to thrive other features (10%): liver disease Whilst many patients are picked up during newborn screening programmes or early childhood, it is worth remembering that around 5% of patients are diagnosed after the age of 18 years. Other features of cystic fibrosis short stature diabetes mellitus delayed puberty rectal prolapse (due to bulky stools) nasal polyps male infertility, female subfertility

Answer 6

Management of cystic fibrosis (CF) involves a multidisciplinary approach Key points -regular (at least twice daily) chest physiotherapy and postural drainage. Parents are usually taught to do this. Deep breathing exercises are also useful -high calorie diet, including high fat intake* -patients with CF should try to minimise contact with each other to prevent cross infection with Burkholderia cepacia complex and Pseudomonas aeruginosa -vitamin supplementation -pancreatic enzyme supplements taken with meals -lung transplantion (chronic infection with Burkholderia cepacia is an important CF-specific contraindication to lung transplantation)

Answer 7

Lumacaftor/Ivacaftor (Orkambi) -is used to treat cystic fibrosis patients who are homozygous for the delta F508 mutation -lumacaftor increases the number of CFTR proteins that are transported to the cell surface -ivacaftor is a potentiator of CFTR that is already at the cell surface, increasing the probability that the defective channel will be open and allow chloride ions to pass through the channel pore

Answer 8

Whooping cough (pertussis) is an infectious disease caused by the Gram-negative bacterium Bordetella pertussis. It typically presents in children. There are around 1,000 cases are reported each year in the UK. It is sometimes called the 'cough of 100 days'.

Answer 9

Immunisation -infants are routinely immunised at 2, 3, 4 months and 3-5 years. Newborn infants are particularly vulnerable, which is why the vaccination campaign for pregnant women was introduced -neither infection nor immunisation results in lifelong protection - hence adolescents and adults may develop whooping cough despite having had their routine immunisations

Answer 10

Features catarrhal phase -symptoms are similar to a viral upper respiratory tract infection -lasts around 1-2 weeks paroxysmal phase -the cough increases in severity coughing bouts are usually worse at night and after feeding, may be ended by vomiting & associated central cyanosis -inspiratory whoop: not always present (caused by forced inspiration against a closed glottis) infants may have spells of apnoea -persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures -lasts between 2-8 weeks convalescent phase the cough subsides over weeks to months

Answer 11

Whooping cough should be suspected if a person has an acute cough that has lasted for 14 days or more without another apparent cause, and has one or more of the following features: -Paroxysmal cough. -Inspiratory whoop. -Post-tussive vomiting. -Undiagnosed apnoeic attacks in young infants.

Answer 12

Diagnosis -per nasal swab culture for Bordetella pertussis - may take several days or weeks to come back -PCR and serology are now increasingly used as their availability becomes more widespread Management -infants under 6 months with suspect pertussis should be admitted -in the UK pertussis is a notifiable disease -an oral macrolide (e.g. clarithromycin, azithromycin or erythromycin) is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread -household contacts should be offered antibiotic prophylaxis -antibiotic therapy has not been shown to alter the course of the illness -school exclusion: 48 hours after commencing antibiotics (or 21 days from onset of symptoms if no antibiotics )

Answer 13

Complications -subconjunctival haemorrhage -pneumonia -bronchiectasis -seizures

Answer 14

Vaccination of pregnant women In 2012 there was an outbreak of whooping cough (pertussis) which resulted in the death of 14 newborn children. As a temporary measure, a vaccination programme was introduced in 2012 for pregnant women. This has successfully reduced the number of cases of whooping cough (the vaccine is thought to be more than 90% effective in preventing newborns developing whooping cough). It was however decided in 2014 to extend the whooping cough vaccination programme for pregnant women. This decision was taken as there was a 'great deal of uncertainty' about the timing of future outbreaks. Women who are between 16-32 weeks pregnant will be offered the vaccine.

Answer 15

Laryngomalacia is the most common congenital laryngeal abnormality characterised by flaccidity of the supraglottic structures. The larynx is soft and floppy as a result and collapses during breathing. Epidemiology Affects both sexes equally Accounts for 60-70% of cases of congenital stridor Presents within the first few weeks of life (typically at 4-6 weeks) with noisy respiration and inspiratory stridor

Answer 16

Types Type 1: tightening of the aryepiglottic folds Type 2: redundant tissue in the supraglottic region Type 3: associated with other disorders such as neuromuscular weakness or gastro-oesophageal reflux disease

Answer 17

Features -Inspiratory stridor : high-pitched and crowing. This is usually intermittent, occurring in the supine position e.g. when the child lies on its back, when feeding or when agitated -Symptoms increase in severity during the first 8 months but tend to resolve by 18-24 months -Respiratory distress, failure to thrive and cyanosis are rare

Answer 18

Investigations Oxygen saturation should be monitored and blood gases taken if there is desaturation Laryngoscopy and bronchoscopy are only indicated if there are severe features, or if there is diagnostic difficulty

Answer 19

Management -99% of cases usually resolve spontaneously by 18-24 months -Symptomatic relief may be provided by hyperextending the neck during episodes of stridor -Surgical intervention is only required with severe respiratory distress e.g. tracheostomy, laryngoplasty, excision of redundant mucosa, laser epiglottopexy or laser division of the aryepiglottic folds

Answer 20

Fever initially Itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular Systemic upset is usually mild

Answer 21

-Prodrome: irritable, conjunctivitis, fever -Koplik spots: white spots ('grain of salt') on buccal mucosa -Rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent

Answer 22

Overview RNA paramyxovirus one of the most infectious known viruses spread by aerosol transmission infective from prodrome until 4 days after rash starts incubation period = 10-14 days

Answer 23

Investigations IgM antibodies can be detected within a few days of rash onset Management mainly supportive admission may be considered in immunosuppressed or pregnant patients notifiable disease → inform public health

Answer 24

Complications -otitis media: the most common complication -pneumonia: the most common cause of death -encephalitis: typically occurs 1-2 weeks following the onset of the illness) -subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness -febrile convulsions -keratoconjunctivitis, corneal ulceration -diarrhoea -increased incidence of appendicitis -myocarditis

Answer 25

Management of contacts if a child not immunized against measles comes into contact with measles then MMR should be offered (vaccine-induced measles antibody develops more rapidly than that following natural infection) this should be given within 72 hours

Answer 26

Fever, malaise, muscular pain Parotitis ('earache', 'pain on eating'): unilateral initially then becomes bilateral in 70%

Answer 27

Rash: pink maculopapular, initially on face before spreading to whole body, usually fades by the 3-5 day Lymphadenopathy: suboccipital and postauricular

Answer 28

Also known as fifth disease or 'slapped-cheek syndrome' Caused by parvovirus B19 Lethargy, fever, headache 'Slapped-cheek' rash spreading to proximal arms and extensor surfaces

Answer 29

Reaction to erythrogenic toxins produced by Group A haemolytic streptococci Fever, malaise, tonsillitis 'Strawberry' tongue Rash - fine punctate erythema sparing the area around the mouth (circumoral pallor)

Answer 30

Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes). It is more common in children aged 2 - 6 years with the peak incidence being at 4 years. Scarlet fever is spread via the respiratory route by inhaling or ingesting respiratory droplets or by direct contact with nose and throat discharges, (especially during sneezing and coughing).

Answer 31

rash -fine punctate erythema ('pinhead') which generally appears first on the torso and spares the palms and soles -children often have a flushed appearance with circumoral pallor. The rash is often more obvious in the flexures -it is often described as having a rough 'sandpaper' texture -desquamination occurs later in the course of the illness, particularly around the fingers and toes

Answer 32

Scarlet fever is usually a mild illness but may be complicated by: -otitis media: the most common complication -rheumatic fever: typically occurs 20 days after infection -acute glomerulonephritis: typically occurs 10 days after infection -invasive complications (e.g. bacteraemia, meningitis, necrotizing fasciitis) are rare but may present acutely with life-threatening illness

Answer 33

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

Answer 34

Features -high fever: lasting a few days, followed later by a maculopapular rash -Nagayama spots: papular enanthem on the uvula and soft palate -febrile convulsions occur in around 10-15% -diarrhoea and cough are also commonly seen Other possible consequences of HHV6 infection aseptic meningitis hepatitis

Answer 35

Caused by the coxsackie A16 virus Mild systemic upset: sore throat, fever Vesicles in the mouth and on the palms and soles of the feet

Answer 36

Management symptomatic treatment only: general advice about hydration and analgesia reassurance no link to disease in cattle children do not need to be excluded from school the HPA recommends that children who are unwell should be kept off school until they feel better they also advise that you contact them if you suspect that there may be a large outbreak.

Answer 37

Diagnosis may be made by the applying Sellotape to the perianal area and sending it to the laboratory for microscopy to see the eggs. However, most patients are treated empirically and this approach is supported in the CKS guidelines. Management CKS recommend a combination of anthelmintic with hygiene measures for all members of the household mebendazole is used first-line for children > 6 months old. A single dose is given unless infestation persists

Answer 38

Diarrhoea and vomiting is very common in younger children. The most common cause of gastroenteritis in children in the UK is rotavirus. Much of the following is based around the 2009 NICE guidelines (please see the link for more details).

Answer 39

NICE suggest that typically: diarrhoea usually lasts for 5-7 days and stops within 2 weeks vomiting usually lasts for 1-2 days and stops within 3 days

Answer 40

The following children are at an increased risk of dehydration: -children younger than 1 year, especially those younger than 6 months -infants who were of low birth weight -children who have passed six or more diarrhoeal stools in the past 24 hours -children who have vomited three times or more in the past 24 hours -children who have not been offered or have not been able to tolerate supplementary fluids before presentation -infants who have stopped breastfeeding during the illness -children with signs of malnutrition

Answer 41

Features suggestive of hypernatraemic dehydration: -jittery movements -increased muscle tone -hyperreflexia -convulsions -drowsiness or coma

Answer 42

NICE suggest doing a stool culture in the following situations: -you suspect septicaemia or -there is blood and/or mucus in the stool or -the child is immunocompromised You should consider doing a stool culture if: -the child has recently been abroad or -the diarrhoea has not improved by day 7 or -you are uncertain about the diagnosis of gastroenteritis

Answer 43

If clinical shock is suspected children should be admitted for intravenous rehydration. For children with no evidence of dehydration continue breastfeeding and other milk feeds encourage fluid intake discourage fruit juices and carbonated drinks If dehydration is suspected: give 50 ml/kg low osmolarity oral rehydration solution (ORS) solution over 4 hours, plus ORS solution for maintenance, often and in small amounts continue breastfeeding consider supplementing with usual fluids (including milk feeds or water, but not fruit juices or carbonated drinks)

Answer 44

Tachypnoea: respiratory rate >50 breaths/minute, age 6-12 months; >40 breaths/minute, age >12 months

Answer 45

>160 beats/minute, age <12 months >150 beats/minute, age 12-24 months >140 beats/minute, age 2-5 years

Answer 46

2 or more: Stool pattern: -Fewer than 3 complete stools per week (type 3 or 4 on Bristol Stool Form Scale) (this does not apply to exclusively breastfed babies after 6 weeks of age) -Hard large stool -'Rabbit droppings' (type 1) Symptoms assoc. with defeacation: -Distress on passing stool -Bleeding associated with hard stool -Straining History: -Prev. episode constipation -Prev. or current anal fissure

Answer 47

Stool pattern: -Fewer than 3 complete stools per week (type 3 or 4) -Overflow soiling (commonly very loose, very smelly, stool passed without sensation) -'Rabbit droppings' (type 1) -Large, infrequent stools that can block the toilet Symptoms assoc. with defeacation: -Poor appetite that improves with passage of large stool -Waxing and waning of abdominal pain with passage of stool -Evidence of retentive posturing: typical straight-legged, tiptoed, back arching posture Straining Anal pain History: -Prev. episode -Prev.or current anal fissure -Painful bowel movements and bleeding associated with hard stools

Answer 48

-Reported from birth ->48hrs to pass meconium -Ribbon stools -Faltering growth -Prev. unknown or undiagnosed leg weakness/locomotor delay -Abdo distension -Any signs that raises child protection concerns

Answer 49

Prior to starting treatment, the child needs to be assessed for faecal impaction. Factors which suggest faecal impaction include: -symptoms of severe constipation -overflow soiling -faecal mass palpable in the abdomen (digital rectal examination should only be carried out by a specialist)

Answer 50

-If faecal impaction is present polyethylene glycol 3350 + electrolytes (Movicol Paediatric Plain) using an escalating dose regimen as the first-line treatment -add a stimulant laxative if Movicol Paediatric Plain does not lead to disimpaction after 2 weeks -substitute a stimulant laxative singly or in combination with an osmotic laxative such as lactulose if Movicol Paediatric Plain is not tolerated -inform families that disimpaction treatment can initially increase symptoms of soiling and abdominal pain

Answer 51

Maintenance therapy very similar to the above regime, with obvious adjustments to the starting dose, i.e. -first-line: Movicol Paediatric Plain add a stimulant laxative if no response -substitute a stimulant laxative if Movicol Paediatric Plain is not tolerated. Add another laxative such as lactulose or docusate if stools are hard -continue medication at maintenance dose for several weeks after regular bowel habit is established, then reduce the dose gradually

Answer 52

Infants not yet weaned (usually < 6 months) bottle-fed infants: give extra water in between feeds. Try gentle abdominal massage and bicycling the infant's legs breast-fed infants: constipation is unusual and organic causes should be considered

Answer 53

Infants who have or are being weaned offer extra water, diluted fruit juice and fruits if not effective consider adding lactulose

Answer 54

Infantile colic describes a relatively common and benign set of symptoms seen in young infants. It typically occurs in infants less than 3 months old and is characterised by bouts of excessive crying and pulling-up of the legs, often worse in the evening. Infantile colic occurs in up to 20% of infants. The cause of infantile colic is unknown. NICE Clinical Knowledge Summaries do not recommend the use of simeticone (such as Infacol®) or lactase (such as Colief®) drops.

Answer 55

Cow's milk protein intolerance/allergy (CMPI/CMPA) occurs in around 3-6% of all children and typically presents in the first 3 months of life in formula-fed infants, although rarely it is seen in exclusively breastfed infants. Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions are seen. The term CMPA is usually used for immediate reactions and CMPI for mild-moderate delayed reactions.

Answer 56

Features -regurgitation and vomiting -diarrhoea -urticaria, atopic eczema -'colic' symptoms: irritability, crying -wheeze, chronic cough -rarely angioedema and -anaphylaxis may occur

Answer 57

Diagnosis is often clinical (e.g. improvement with cow's milk protein elimination). Investigations include: skin prick/patch testing total IgE and specific IgE (RAST) for cow's milk protein

Answer 58

If the symptoms are severe (e.g. failure to thrive) refer to a paediatrician. Management if formula-fed extensive hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF around 10% of infants are also intolerant to soya milk

Answer 59

Management if breastfed continue breastfeeding eliminate cow's milk protein from maternal diet. Consider prescribing calcium supplements for breastfeeding mothers whose babies have, or are suspected to have, CMPI, to prevent deficiency whilst they exclude dairy from their diet use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months

Answer 60

CMPI usually resolves in most children -in children with IgE mediated intolerance around 55% will be milk tolerant by the age of 5 years -in children with non-IgE mediated intolerance most children will be milk tolerant by the age of 3 years -a challenge is often performed in the hospital setting as anaphylaxis can occur.

Answer 61

Skin -pruritus -erythema -urticaria -angioedema Gastrointestinal system -nausea -colicky abdominal pain -vomiting -diarrhoea Respiratory system -upper respiratory tract symptoms - nasal itching,sneezing, rhinorrhoea or congestion (with or without conjunctivitis) -lower respiratory tract symptoms - cough, chest tightness, wheezing or shortness of breath -Symptoms of anaphylaxis

Answer 62

Skin pruritus erythema atopic eczema Gastrointestinal system gastro-oesophageal reflux disease loose or frequent stools blood and/or mucus in stools abdominal pain infantile colic food refusal or aversion constipation perianal redness pallor and tiredness faltering growth plus one or more gastrointestinal symptoms above (with or without significant atopic eczema)

Answer 63

If the history is suggestive of an IgE-mediated allergy offer a skin prick test or blood tests for specific IgE antibodies to the suspected foods and likely co-allergens

Answer 64

If the history is suggestive of an non-IgE-mediated allergy eliminate the suspected allergen for 2-6 weeks, then reintroduce. NICE advise to 'consult a dietitian with appropriate competencies about nutritional adequacies, timings and follow-up'

Answer 65

Gastro-oesophageal reflux is the commonest cause of vomiting in infancy. Around 40% of infants regurgitate their feeds to a certain extent so there is a degree of overlap with normal physiological processes. Risk factors preterm delivery neurological disorders

Answer 66

Features -typically develops before 8 weeks -vomiting/regurgitation -milky vomits after feeds -may occur after being laid flat -excessive crying, especially while feeding Diagnosis is usually made clinically

Answer 67

Management (partly based on the 2015 NICE guidelines) -advise regarding position during feeds - 30 degree head-up -infants should sleep on their backs as per standard guidance to reduce the risk of cot death -ensure infant is not being overfed (as per their weight) and consider a trial of smaller and more frequent feeds -a trial of thickened formula (for example, containing rice starch, cornstarch, locust bean gum or carob bean gum) -a trial of alginate therapy e.g. Gaviscon. Alginates should not be used at the same time as thickening agents NICE do not recommend a proton pump inhibitor (PPI) to treat overt regurgitation in infants and children occurring as an isolated symptom. A trial of one of these agents should be considered if 1 or more of the following apply: -unexplained feeding difficulties (for example, refusing feeds, gagging or choking) -distressed behaviour -faltering growth

Answer 68

Complications distress failure to thrive aspiration frequent otitis media in older children dental erosion may occur If there are severe complications (e.g. failure to thrive) and medical treatment is ineffective then fundoplication may be considered

Answer 69

Pyloric stenosis typically presents in the second to fourth weeks of life with vomiting, although rarely may present later at up to four months. It is caused by hypertrophy of the circular muscles of the pylorus. Epidemiology -incidence of 4 per 1,000 live births -4 times more common in males 10-15% of infants have a positive family history -first-borns are more commonly affected

Answer 70

Features -'projectile' vomiting, typically 30 minutes after a feed -constipation and dehydration may also be present -a palpable mass may be present in the upper abdomen -hypochloraemic, hypokalaemic alkalosis due to persistent vomiting Diagnosis is most commonly made by ultrasound. Management is with Ramstedt pyloromyotomy.

Answer 71

Hirschsprung's disease is caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses. Although rare (occurring in 1 in 5,000 births) it is an important differential diagnosis in childhood constipation. Pathophysiology parasympathetic neuroblasts fail to migrate from the neural crest to the distal colon → developmental failure of the parasympathetic Auerbach and Meissner plexuses → uncoordinated peristalsis → functional obstruction

Answer 72

Associations 3 times more common in males Down's syndrome Possible presentations neonatal period e.g. failure or delay to pass meconium older children: constipation, abdominal distension

Answer 73

Investigations abdominal x-ray rectal biopsy: gold standard for diagnosis Management initially: rectal washouts/bowel irrigation definitive management: surgery to affected segment of the colon

Answer 74

Intussusception describes the invagination of one portion of the bowel into the lumen of the adjacent bowel, most commonly around the ileo-caecal region. Intussusception usually affects infants between 6-18 months old. Boys are affected twice as often as girls

Answer 75

Features -intermittent, severe, crampy, progressive abdominal pain -inconsolable crying -during paroxysm the infant will characteristically draw their knees up and turn pale -vomiting -bloodstained stool - 'red-currant jelly' - is a late sign -sausage-shaped mass in the right upper quadrant

Answer 76

Investigation ultrasound is now the investigation of choice and may show a target-like mass Management the majority of children can be treated with reduction by air insufflation under radiological control, which is now widely used first-line compared to the traditional barium enema if this fails, or the child has signs of peritonitis, surgery is performed

Answer 77

Meckel's diverticulum is a congenital diverticulum of the small intestine. It is a remnant of the omphalomesenteric duct (also called the vitellointestinal duct) and contains ectopic ileal, gastric or pancreatic mucosa. . Rule of 2s occurs in 2% of the population is 2 feet from the ileocaecal valve is 2 inches long

Answer 78

Presentation (usually asymptomatic) -abdominal pain mimicking appendicitis -rectal bleeding -Meckel's diverticulum is the most common cause of painless massive GI bleeding requiring a transfusion in children between the ages of 1 and 2 years -intestinal obstruction secondary to an omphalomesenteric band (most commonly), volvulus and intussusception

Answer 79

nvestigation if the child is haemodynamically stable with less severe or intermittent bleeding then a 'Meckel's scan' should be considered uses 99m technetium pertechnetate, which has an affinity for gastric mucosa mesenteric arteriography may also be used in more severe cases e.g. transfusion is required Management removal if narrow neck or symptomatic options are between wedge excision or formal small bowel resection and anastomosis

Answer 80

Measuring temperature should be done with an electronic thermometer in the axilla if the child is < 4 weeks or with an electronic/chemical dot thermometer in the axilla or an infra-red tympanic thermometer.

Answer 81

Clinical features -usually occur early in a viral infection as the temperature rises rapidly -seizures are usually brief, lasting less than 5 minutes -are most commonly tonic-clonic

Answer 82

Simple Complex Febrile status epilepticus

Answer 83

<15mins Generalised seizure Typically no recurrence with 24hrs Should be complete recovery within 1hr

Answer 84

15-30mins focal seizure May have repeat seizures within 24hrs

Answer 85

Management following a seizure children who have had a first seizure OR any features of a complex seizure should be admitted to paediatrics Ongoing management -parents should be advised to phone for an ambulance if the seizure lasts > 5 minutes -regular antipyretics have not been shown to reduce the chance of a febrile seizure occurring -if recurrent febrile convulsions occur then benzodiazepine rescue medication may be considered -this should only be started on the advice of a specialist (e.g. a paediatrician) -rectal diazepam or buccal midazolam may be used

Answer 86

the overall risk of further febrile convulsion = 1 in 3. This varies widely depending on risk factors for further seizure, including: -age of onset < 18 months -fever < 39ºC -shorter duration of fever before the seizure -a family history of febrile convulsions

Answer 87

ink to epilepsy -risk factors for developing epilepsy include a family history of epilepsy, having complex febrile seizures and a background of neurodevelopmental disorder -children with no risk factors have a 2.5% risk of developing epilepsy -if children have all 3 features the risk of developing epilepsy is much higher (e.g. 50%)

Answer 88

Benign rolandic epilepsy is a form of childhood epilepsy that typically occurs between the age of 4 and 12 years. Features seizures characteristically occur at night seizures are typically partial (e.g. paraesthesia affecting the face) but secondary generalisation may occur (i.e. parents may only report tonic-clonic movements) the child is otherwise normal EEG characteristically shows centrotemporal spikes The prognosis is excellent, with seizures stopping by adolescence

Answer 89

Infantile spasms, or West syndrome, is a type of childhood epilepsy which typically presents in the first 4 to 8 months of life and is more common in male infants. They are often associated with a serious underlying condition and carry a poor prognosis

Answer 90

Features characteristic 'salaam' attacks: flexion of the head, trunk and arms followed by extension of the arms this lasts only 1-2 seconds but may be repeated up to 50 times progressive mental handicap

Answer 91

Investigation -the EEG shows hypsarrhythmia in two-thirds of infants -CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous sclerosis) Management -poor prognosis -vigabatrin is now considered first-line therapy -ACTH is also used

Answer 92

Presentation of meningococcal disease: 15% - meningitis 25% - septicaemia 60% - a combination of meningitis and septicaemia NICE divide the features of meningococcal septicaemia into: common non-specific symptoms/signs e.g. fever, vomiting, lethargy less common non-specific symptoms/signs e.g. Chills, shivering more specific symptoms/signs e.g. Non-blanching rash, altered mental state, capillary refill time more than 2 seconds, unusual skin colour, shock, hypotension, leg pain, cold hands/feet Management if suspected meningococcal septicaemia give intramuscular or intravenous benzylpenicillin unless there is a history of anaphylaxis (do not give if this will delay hospital transfer) NICE recommend phoning 999

Answer 93

Contraindication to lumbar puncture (any signs of raised ICP) -focal neurological signs -papilloedema -significant bulging of the fontanelle -disseminated intravascular coagulation -signs of cerebral herniation For patients with meningococcal septicaemia a lumbar puncture is contraindicated - blood cultures and PCR for meningococcus should be obtained.

Answer 94

1. Antibiotics < 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime > 3 months: IV cefotaxime (or ceftriaxone) 2. Steroids NICE advise against giving corticosteroids in children younger than 3 months dexamethsone should be considered if the lumbar puncture reveals any of the following: frankly purulent CSF CSF white blood cell count greater than 1000/microlitre raised CSF white blood cell count with protein concentration greater than 1 g/litre bacteria on Gram stain 3. Fluids treat any shock, e.g. with colloid 4. Cerebral monitoring mechanical ventilation if respiratory impairment 5. Public health notification and antibiotic prophylaxis of contacts ciprofloxacin is now preferred over rifampicin

Answer 95

Three doses are now given at: 2 months 4 months 12-13 months

Answer 96

Jaundice in the first 24 hours is always pathological. Causes of jaundice in the first 24 hrs rhesus haemolytic disease ABO haemolytic disease hereditary spherocytosis glucose-6-phosphodehydrogenase

Answer 97

Jaundice in the neonate from 2-14 days is common (up to 40%) and usually physiological. It is due to a combination of factors, including more red blood cells, more fragile red blood cells and less developed liver function. It is more commonly seen in breastfed babies

Answer 98

If there are still signs of jaundice after 14 days (21 days if premature) a prolonged jaundice screen is performed, including: -conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention -direct antiglobulin test (Coombs' test) -TFTs -FBC and blood film -urine for MC&S and reducing sugars -U&Es and LFTs

Answer 99

Causes of prolonged jaundice -biliary atresia -hypothyroidism -galactosaemia -urinary tract infection -breast milk jaundice jaundice is more common in breastfed babies mechanism is not fully understood but thought to be due to high concentrations of beta-glucuronidase → increase in intestinal absorption of unconjugated bilirubin -prematurity: due to immature liver function, increased risk of kernicterus -congenital infections e.g. CMV, toxoplasmosis

Answer 100

Rubella Toxoplamosis Cytomegalovirus

Answer 101

Characteristic: -Sensorineural deafness -Congenital cataracts -Congenital heart disease (e.g. patent ductus arteriosus) -Glaucoma Other: -Growth retardation -Hepatosplenomegaly -Purpuric skin lesions -'Salt and pepper' chorioretinitis -Microphthalmia -Cerebral palsy

Answer 102

Characteristic: -Cerebral calcification -Chorioretinitis -Hydrocephalus Other: -Anaemia -Hepatosplenomegaly -Cerebral palsy

Answer 103

Characteristic: -Low birth weight -Purpuric skin lesions -Sensorineural deafness -Microcephaly Other: -Visual impairment -Learning disability -Encephalitis/seizures -Pneumonitis -Hepatosplenomegaly -Anaemia -Jaundice -Cerebral palsy

Answer 104

Microcephaly may be defined as an occipital-frontal circumference < 2nd centile Causes include -normal variation e.g. small child with small head -familial e.g. parents with small head -congenital infection -perinatal brain injury e.g. hypoxic -ischaemic encephalopathy -fetal alcohol syndrome -syndromes: Patau craniosynostosis

Answer 105

Causes of macrocephaly in children include: -normal variant -chronic hydrocephalus -chronic subdural effusion -neurofibromatosis -gigantism (e.g. Soto's syndrome) -metabolic storage diseases -bone problems e.g. thalassaemia

Answer 106

The most common cause of hypothyroidism in children (juvenile hypothyroidism) is autoimmune thyroiditis. Other causes include post total-body irradiation (e.g. in a child previous treated for acute lymphoblastic leukaemia) iodine deficiency (the most common cause in the developing world)

Answer 107

Autosomal recessive conditions are often thought to be 'metabolic' as opposed to autosomal dominant conditions being 'structural', notable exceptions: -some 'metabolic' conditions such as Hunter's and G6PD are X-linked recessive whilst others such as hyperlipidaemia type II and hypokalaemic periodic paralysis are autosomal dominant -some 'structural' conditions such as ataxia telangiectasia and Friedreich's ataxia are autosomal recessive

Answer 108

Trisomy 13 Microcephalic, small eyes Cleft lip/palate Polydactyly Scalp lesions

Answer 109

Trisomy 18 Micrognathia Low-set ears Rocker bottom feet Overlapping of fingers

Answer 110

Learning difficulties Macrocephaly Long face Large ears Macro-orchidism Mitral valve prolapse

Answer 111

Diagnosis can be made antenatally by chorionic villus sampling or amniocentesis analysis of the number of CGG repeats using restriction endonuclease digestion and Southern blot analysis

Answer 112

Webbed neck Pectus excavatum Short stature Pulmonary stenosis

Answer 113

Micrognathia Posterior displacement of the tongue (may result in upper airway obstruction) Cleft palate

Answer 114

Hypotonia Hypogonadism Obesity

Answer 115

Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis Elfin features

Answer 116

(chromosome 5p deletion syndrome) Characteristic cry (hence the name) due to larynx and neurological problems Feeding difficulties and poor weight gain Learning difficulties Microcephaly and micrognathism Hypertelorism

Answer 117

Achondroplasia is an autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene. This results in abnormal cartilage giving rise to: -short limbs (rhizomelia) with -shortened fingers (brachydactyly) -large head with frontal bossing and narrow foramen magnum -midface hypoplasia with a flattened nasal bridge -'trident' hands -lumbar lordosis In most cases (approximately 70%) it occurs as a sporadic mutation. The main risk factor is advancing parental age at the time of conception. Once present it is typically inherited in an autosomal dominant fashion.

Answer 118

There is no specific therapy. However, some individuals benefit from limb lengthening procedures. These usually involve application of Ilizarov frames and targeted bone fractures. A clearly defined need and end point is the cornerstone of achieving success with such procedures.

Answer 119

Disorder LH Testosterone Primary hypogonadism (Klinefelter's syndrome) High Low Hypogonadotrophic hypogonadism (Kallman's syndrome) Low Low Androgen insensitivity syndrome High Normal/high Testosterone-secreting tumour Low High

Answer 120

Klinefelter's syndrome is associated with karyotype 47, XXY Features -often taller than average -lack of secondary sexual characteristics -small, firm testes -infertile -gynaecomastia - increased incidence of breast cancer -elevated gonadotrophin levels Diagnosis is by chromosomal analysis

Answer 121

Kallman's syndrome is a recognised cause of delayed puberty secondary to hypogonadotrophic hypogonadism. It is usually inherited as an X-linked recessive trait. Kallman's syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus. The clue given in many questions is lack of smell (anosmia) in a boy with delayed puberty Features -'delayed puberty' -hypogonadism, cryptorchidism -anosmia -sex hormone levels are low -LH, FSH levels are inappropriately low/normal -patients are typically of normal or above average height Cleft lip/palate and visual/hearing defects are also seen in some patients

Answer 122

Androgen insensitivity syndrome is an X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype. Complete androgen insensitivity syndrome is the new term for testicular feminisation syndrome Features -'primary amenorrhoea' -undescended testes causing groin swellings -breast development may occur as a result of conversion of testosterone to oestradiol Diagnosis -buccal smear or chromosomal analysis to reveal 46XY genotype Management -counselling - raise child as female -bilateral orchidectomy (increased risk of testicular cancer due to undescended testes) -oestrogen therapy

Answer 123

McCune-Albright syndrome McCune-Albright syndrome is not inherited, it is due to a random, somatic mutation in the GNAS gene. Features precocious puberty cafe-au-lait spots polyostotic fibrous dysplasia short stature

Answer 124

Males first sign is testicular growth at around 12 years of age (range = 10-15 years) testicular volume > 4 ml indicates onset of puberty maximum height spurt at 14

Answer 125

emales first sign is breast development at around 11.5 years of age (range = 9-13 years) height spurt reaches its maximum early in puberty (at 12) , before menarche menarche at 13 (11-15) there is an increase of only about 4% of height following menarche

Answer 126

Normal changes in puberty gynaecomastia may develop in boys asymmetrical breast growth may occur in girls diffuse enlargement of the thyroid gland may be seen

Answer 127

Definition 'development of secondary sexual characteristics before 8 years in females and 9 years in males' more common in females Some other terms thelarche (the first stage of breast development) adrenarche (the first stage of pubic hair development)

Answer 128

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

Answer 129

Males - uncommon and usually has an organic cause Testes bilateral enlargement = gonadotrophin release from intracranial lesion unilateral enlargement = gonadal tumour small testes = adrenal cause (tumour or adrenal hyperplasia)

Answer 130

Females - usually idiopathic or familial and follows normal sequence of puberty Organic causes are rare, associated with rapid onset, neurological symptoms and signs and dissonance e.g. McCune Albright syndrome

Answer 131

In general vaginal examinations and vaginal swabs should not be performed - referral to a paediatric gynaecologist is appropriate for persistent problems Most newborn girls have some mucoid white vaginal discharge. This usually disappears by 3 months of age Vulvovaginitis -commonest gynaecological disorder in girls -risk factors include poor hygiene, tight clothing, lack of labial fat pads protecting vaginal orifice and lack of protective acid secretion -found in the reproductive years bacterial (such as Gardnerella and Bacteroides) or fungal organisms may be responsible -sexual abuse may occasionally present as vulvovaginitis -if bloody discharge consider foreign body

Answer 132

Management advise about hygiene soothing creams may be useful topical antibiotics/antifungals oestrogen cream in resistant cases

Answer 133

Alpha-thalassaemia is due to a deficiency of alpha chains in haemoglobin Overview 2 separate alpha-globulin genes are located on each chromosome 16 Clinical severity depends on the number of alpha globulin alleles affected: If 1 or 2 alpha globulin alleles are affected then the blood picture would be hypochromic and microcytic, but the Hb level would be typically normal If are 3 alpha globulin alleles are affected results in a hypochromic microcytic anaemia with splenomegaly. This is known as Hb H disease If all 4 alpha globulin alleles are affected (i.e. homozygote) then death in utero (hydrops fetalis, Bart's hydrops)

Answer 134

Labial adhesions describe the fusion of the labia minora in the midline. It is usually seen in girls between the ages of 3 months and 3 years and can generally be treated conservatively. Spontaneous resolution tends to occur around puberty. It should be noted that the condition is different from an imperforate hymen. The majority of cases are symptomatic. Features may include: problems with micturition including pooling in the vagina on examination thin semitranslucent adhesions covering the vaginal opening between the labia minora are seen, which sometimes cover the vaginal opening completely

Answer 135

Management conservative management is appropriate in the majority of cases if there are associated problems such as recurrent urinary tract infections oestrogen cream may be tried if this fails surgical intervention may be warranted

Answer 136

Type Notes Irritant dermatitis The most common cause, due to irritant effect of urinary ammonia and faeces Creases are characteristically spared Candida dermatitis Typically an erythematous rash which involve the flexures and has characteristic satellite lesions Seborrhoeic dermatitis Erythematous rash with flakes. May be coexistent scalp rash Psoriasis A less common cause characterised by an erythematous scaly rash also present elsewhere on the skin Atopic eczema Other areas of the skin will also be affected

Answer 137

General management points disposable nappies are preferable to towel nappies expose napkin area to air when possible apply barrier cream (e.g. Zinc and castor oil) mild steroid cream (e.g. 1% hydrocortisone) in severe cases management of suspected candidal nappy rash is with a topical imidazole. Cease the use of a barrier cream until the candida has settled

Answer 138

The British Association of Paediatric Urologists states that if the issue is a non-retractile foreskin and/or ballooning during micturition in a child under two, an expectant approach should be taken in case this is physiological phimosis which will resolve in time. Forcible retraction can result in scar formation so should be avoided. Personal hygiene is important. If the child is over 2 years of age and has recurrent balanoposthitis or urinary tract infection then treatment can be considered.

Answer 139

Undescended testis occurs in around 2-3% of term male infants, but is much more common if the baby is preterm. Around 25% of cases are bilateral. Complications of undescended testis infertility torsion testicular cancer psychological

Answer 140

Management Unilateral undescended testis NICE CKS now recommend referral should be considered from around 3 months of age, with the baby ideally seeing a urological surgeon before 6 months of age Orchidopexy: Surgical practices vary although the majority of procedures are performed at around 1 year of age Bilateral undescended testes Should be reviewed by a senior paediatrician within 24hours as the child may need urgent endocrine or genetic investigation

Answer 141

Examples - note dominance of neurological disorders Fragile X (CGG) Huntington's (CAG) myotonic dystrophy (CTG) Friedreich's ataxia* (GAA) spinocerebellar ataxia spinobulbar muscular atrophy dentatorubral pallidoluysian atrophy

Answer 142

Turner's syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner's syndrome is denoted as 45,XO or 45,X.

Answer 143

Features -short stature -shield chest, widely spaced nipples -webbed neck -bicuspid aortic valve (15%), -coarctation of the aorta (5-10%) -an increased risk of aortic dilatation and dissection are the most serious long-term health problems for women with Turner's syndrome -regular monitoring in adult life for these complications is an important component of care -primary amenorrhoea -cystic hygroma (often diagnosed prenatally) -high-arched palate -short fourth metacarpal -multiple pigmented naevi -lymphoedema in neonates (especially feet) -gonadotrophin levels will be elevated -hypothyroidism is much more common in Turner's -horseshoe kidney: the most common renal abnormality in Turner's syndrome There is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn's disease

Answer 144

Down's syndrome Trisomy 21 Chance of Down's syndrome with increasing maternal age Age (years) Risk 20 1 in 1,500 30 1 in 800 35 1 in 270 40 1 in 100 45 1 in 50 or greater One way of remembering this is by starting at 1/1,000 at 30 years and then dividing the denominator by 3 (i.e. 3 times more common) for every extra 5 years of age

Answer 145

Mode % of cases Risk of recurrence Nondisjunction 94% 1 in 100 if under mother < 35 years Robertsonian translocation (usually onto 14) 5% 10-15% if mother is translocation carrier 2.5% if father is translocation carrier Mosaicism* 1% The chance of a further child with Down's syndrome is approximately 1 in 100 if the mother is less than 35 years old. If the trisomy 21 is a result of a translocation the risk is much higher

Answer 146

Clinical features face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face flat occiput single palmar crease, pronounced 'sandal gap' between big and first toe hypotonia congenital heart defects (40-50%, see below) duodenal atresia Hirschsprung's disease

Answer 147

Cardiac complications -multiple cardiac problems may be present -endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects) -ventricular septal defect (c. 30%) -secundum atrial septal defect (c. 10%) -tetralogy of Fallot (c. 5%) -isolated patent ductus arteriosus (c. 5%)

Answer 148

Later complications subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour learning difficulties short stature repeated respiratory infections (+hearing impairment from glue ear) acute lymphoblastic leukaemia hypothyroidism Alzheimer's disease atlantoaxial instability

Answer 149

Vision refractive errors are more common strabismus: seen in around 20-40% cataracts: congenital and acquired are both more common recurrent blepharitis glaucoma

Answer 150

otitis media / glue ear

Answer 151

Homocystinuria is a rare autosomal recessive disease caused by a deficiency of cystathionine beta synthase. This results in severe elevations in plasma and urine homocysteine concentrations. Features -often patients have fine, fair hair musculoskeletal Marfanoid body habitus: arachnodactyly etc osteoporosis kyphosis neurological: may have learning difficulties, seizures ocular downwards (inferonasal) dislocation of lens severe myopia increased risk of arterial and venous thromboembolism also malar flush, livedo reticularis

Answer 152

Investigations increased homocysteine levels in serum and urine cyanide-nitroprusside test: also positive in cystinuria Treatment is vitamin B6 (pyridoxine) supplements.

Answer 153

Acyanotic - most common causes -ventricular septal defects (VSD) - most common, accounts for 30% -atrial septal defect (ASD) -patent ductus arteriosus (PDA) -coarctation of the aorta -aortic valve stenosis VSDs are more common than ASDs. However, in adult patients ASDs are the more common new diagnosis as they generally presents later.

Answer 154

Features -left subclavicular thrill -continuous 'machinery' murmur -large volume, bounding, collapsing pulse -wide pulse pressure -heaving apex beat

Answer 155

Management indomethacin or ibuprofen given to the neonate inhibits prostaglandin synthesis closes the connection in the majority of cases if associated with another congenital heart defect amenable to surgery then prostaglandin E1 is useful to keep the duct open until after surgical repair

Answer 156

Cyanotic - most common causes -tetralogy of Fallot -transposition of the great arteries (TGA) -tricuspid atresia Fallot's is more common than TGA. However, at birth TGA is the more common lesion as patients with Fallot's generally presenting at around 1-2 months The presence of cyanosis in pulmonary valve stenosis depends very much on the severity and any other coexistent defects.

Answer 157

Venous hums Due to the turbulent blood flow in the great veins returning to the heart. Heard as a continuous blowing noise heard just below the clavicles Still's murmur Low-pitched sound heard at the lower left sternal edge

Answer 158

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

Answer 159

Developmental dysplasia of the hip (DDH) is gradually replacing the old term 'congenital dislocation of the hip' (CDH). It affects around 1-3% of newborns. Risk factors -female sex: 6 times greater risk -breech presentation -positive family history -firstborn children -oligohydramnios -birth weight > 5 kg -congenital calcaneovalgus foot deformity

Answer 160

DDH is slightly more common in the left hip. Around 20% of cases are bilateral. Screening for DDH the following infants require a routine ultrasound examination -first-degree family history of hip problems in early life -breech presentation at or after 36 weeks gestation, irrespective of presentation at birth or mode of delivery -multiple pregnancy all infants are screened at both the newborn check and also the six-week baby check using the Barlow and Ortolani tests

Answer 161

Clinical examination -Barlow test: attempts to dislocate an articulated femoral head -Ortolani test: attempts to relocate a dislocated femoral head other important factors include: -symmetry of leg length -level of knees when hips and knees are bilaterally flexed -restricted abduction of the hip in flexion

Answer 162

Imaging ultrasound is generally used to confirm the diagnosis if clinically suspected however, if the infant is > 4.5 months then x-ray is the first line investigation Management most unstable hips will spontaneously stabilise by 3-6 weeks of age Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months older children may require surgery

Answer 163

Calcaneal apophysitis (Sever disease) is an overuse injury causing heel pain in sporty children.

Answer 164

Perthes' disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years. It is due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction. Perthes' disease is 5 times more common in boys. Around 10% of cases are bilateral

Answer 165

Features -hip pain: develops progressively over a few weeks -limp -stiffness and reduced range of hip movement x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening

Answer 166

Diagnosis plain x-ray technetium bone scan or magnetic resonance imaging if normal x-ray and symptoms persist Management To keep the femoral head within the acetabulum: cast, braces If less than 6 years: observation Older: surgical management with moderate results Operate on severe deformities

Answer 167

Prognosis Most cases will resolve with conservative management. Early diagnosis improves outcomes. Complications osteoarthritis premature fusion of the growth plates

Answer 168

Stage Features Stage 1 Clinical and histological features only Stage 2 Sclerosis with or without cystic changes and preservation of the articular surface Stage 3 Loss of structural integrity of the femoral head Stage 4 Loss of acetabular integrity

Answer 169

Slipped capital femoral epiphysis is rare hip condition seen in children, classically seen in obese boys. It is also is known as slipped upper femoral epiphysis. Basics typically age group is 10-15 years More common in obese children and boys Displacement of the femoral head epiphysis postero-inferiorly May present acutely following trauma or more commonly with chronic, persistent symptoms

Answer 170

Features hip, groin, medial thigh or knee pain loss of internal rotation of the leg in flexion bilateral slip in 20% of cases Investigation AP and lateral (typically frog-leg) views are diagnostic

Answer 171

Management internal fixation: typically a single cannulated screw placed in the centre of the epiphysis Complications osteoarthritis avascular necrosis of the femoral head chondrolysis leg length discrepancy

Answer 172

Freiberg's disease is a condition where the blood supply to the metatarsal head gets interrupted causing infarction and flattening of the metatarsal head. It usually affects the 2nd metatarsal and is most commonly seen in adolescents as their bones may grow faster than blood vessel proliferation can keep up with. Tall, athletic females are most at risk. The symptoms of Freiberg's disease, pain, swelling and stiffness, usually respond to conservative measures such as activity limitation, analgesia and orthotic devices including walking casts or boots. Operative management is rarely necessary although it is important to tell patients that improvement is gradual and can take up to a year.

Answer 173

A common presentation in General Practice is a child complaining of pain in the legs with no obvious cause. Such presentations, in the absence of any worrying features, are often attributed to 'growing pains'. This is a misnomer as the pains are often not related to growth - the current term used in rheumatology is 'benign idiopathic nocturnal limb pains of childhood' Growing pains are equally common in boys and girls and occur in the age range of 3-12 years. Features of growing pains -never present at the start of the day after the child has woken -no limp -no limitation of physical activity -systemically well -normal physical examination -motor milestones normal -symptoms are often intermittent and worse after a day of vigorous activity

Answer 174

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

Answer 175

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

Answer 176

Pain after exercise Intermittent swelling and locking

Answer 177

Medial knee pain due to lateral subluxation of the patella Knee may give way

Answer 178

More common in athletic teenage boys Chronic anterior knee pain that worsens after running Tender below the patella on examination

Answer 179

All ages Absent medial arch on standing Typically resolves between the ages of 4-8 years Orthotics are not recommended Parental reassurance appropriate

Answer 180

1st year Possible causes: metatarsus adductus: abnormal heel bisector line. 90% of cases resolve spontaneously, severe/persistent cases may require serial casting internal tibial torsion: difference the thigh and foot ankle: resolves in the vast majority femoral anteversion: 'W' sign resolves in around 80% by adolescence, surgical intervention in the remaining not usually advised

Answer 181

All ages Common in early infancy and usually resolves by the age of 2 years Usually due to external tibial torsion Intervention may be appropriate if doesn't resolve as increases risk of patellofemoral pain

Answer 182

1st-2nd year Increased intercondylar distance Typically resolves by the age of 4-5 years

Answer 183

3rd-4th year Increased intermalleolar distance Typically resolves spontaneously

Answer 184

Rickets is a term that describes inadequately mineralised bone in developing and growing bones. This results in soft and easily deformed bones. It is usually due to vitamin D deficiency. In adults, the equivalent condition is termed osteomalacia Predisposing factors dietary deficiency of calcium, for example in developing countries prolonged breastfeeding unsupplemented cow's milk formula lack of sunlight

Answer 185

Features -aching bones and joints -lower limb abnormalities: in toddlers genu varum (bow legs) in older children - genu valgum (knock knees) -'rickety rosary' - swelling at the costochondral junction -kyphoscoliosis -craniotabes - soft skull bones in early life -Harrison's sulcus

Answer 186

Investigations low vitamin D levels reduced serum calcium - symptoms may results from hypocalcaemia raised alkaline phosphatase Management oral vitamin D

Answer 187

Urinary tract infections (UTI) are more common in boys until 3 months of age (due to more congenital abnormalities) after which the incidence is substantially higher in girls. At least 8% of girls and 2% of boys will have a UTI in childhood Presentation in childhood depends on age: infants: poor feeding, vomiting, irritability younger children: abdominal pain, fever, dysuria older children: dysuria, frequency, haematuria features which may suggest an upper UTI include: temperature > 38ºC, loin pain/tenderness

Answer 188

NICE guidelines for checking urine sample in a child -if there are any symptoms or signs suggestive or a UTI -with unexplained fever of 38°C or higher (test urine after 24 hours at the latest) -with an alternative site of infection but who remain unwell (consider urine test after 24 hours at the latest)

Answer 189

Urine collection method -clean catch is preferable -if not possible then urine collection pads should be used -cotton wool balls, gauze and sanitary towels are not suitable -invasive methods such as suprapubic aspiration should only be used if non-invasive methods are not possible

Answer 190

Management infants less than 3 months old should be referred immediately to a paediatrician children aged more than 3 months old with an upper UTI should be considered for admission to hospital. If not admitted oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days children aged more than 3 months old with a lower UTI should be treated with oral antibiotics for 3 days according to local guidelines, usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin. Parents should be asked to bring the children back if they remain unwell after 24-48 hours antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs

Answer 191

NICE guidelines for imaging the urinary tract infants < 6 months who present with a first UTI which responds to treatment should have an ultrasound within 6 weeks children > 6 months who present with a first UTI which responds to treatment do not require imaging unless there are features suggestive of an atypical infection or recurrent infection

Answer 192

Possible further investigations -urine for microscopy and culture: urine should be sent for culture as only 50% of children with a UTI have pyuria. Microscopy or dipstick of the urine is therefore inadequate for diagnosis -static radioisotope scan (e.g. DMSA): identifies renal scars. Should be done 4-6 months after initial infection -micturating cystourethrography (MCUG): identifies vesicoureteric reflux. Only recommended for infants younger than 6 months who present with atypical or recurrent infections

Answer 193

In a child under 6 months with a UTI which responds well to antibiotics within 48 hours, NICE recommend an ultrasound scan within 6 weeks. For an atypical UTI or recurrent UTI in an infant <6 months, ultrasound during acute infection, DMSA 4-6 months following the acute infection and MCUG is advised.

Answer 194

Atypical UTI includes: seriously ill poor urine flow abdominal or bladder mass elevated creatinine failure to respond to antibiotics within 48 hours non-E. coli organisms.

Answer 195

Recurrent UTI is defined by NICE as: two or more episodes of UTI with acute pyelonephritis/upper urinary tract infection one episode of UTI with acute pyelonephritis/upper urinary tract infection plus one or more episode of UTI with cystitis/lower urinary tract infection three or more episodes of UTI with cystitis/lower urinary tract infection.

Answer 196

Vesicoureteric reflux (VUR) is the abnormal backflow of urine from the bladder into the ureter and kidney. It is a relatively common abnormality of the urinary tract in children and predisposes to urinary tract infection (UTI), being found in around 30% of children who present with a UTI. As around 35% of children develop renal scarring it is important to investigate for VUR in children following a UTI Pathophysiology of VUR ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at an angle therefore shortened intramural course of the ureter vesicoureteric junction cannot, therefore, function adequately

Answer 197

Possible presentations antenatal period: hydronephrosis on ultrasound recurrent childhood urinary tract infections reflux nephropathy term used to describe chronic pyelonephritis secondary to VUR commonest cause of chronic pyelonephritis renal scar may produce increased quantities of renin causing hypertension

Answer 198

Investigation -VUR is normally diagnosed following a micturating cystourethrogram -a DMSA scan may also be performed to look for renal scarring

Answer 199

Grade I Reflux into the ureter only, no dilatation II Reflux into the renal pelvis on micturition, no dilatation III Mild/moderate dilatation of the ureter, renal pelvis and calyces IV Dilation of the renal pelvis and calyces with moderate ureteral tortuosity V Gross dilatation of the ureter, pelvis and calyces with ureteral tortuosity

Answer 200

For children up to the age of 16 years, six of these features have to be present; in those aged 17 or over, the threshold is five features (Table below).

Answer 201

ICE stipulates a holistic approach to treating ADHD that isn't entirely reliant on therapeutics. Following presentation, a ten-week 'watch and wait' period should follow to observe whether symptoms change or resolve. If they persist then referral to secondary care is required. This is normally to a paediatrician with a special interest in behavioural disorders, or to the local Child and Adolescent Mental Health Service (CAMHS). Here, the needs and wants of the patient, as well as how their condition affects their lives should be taken into account, to offer a tailored plan of action. Drug therapy should be seen as a last resort and is only available to those aged 5 years or more. Patients with mild/moderate symptoms can usually benefit from their parents attending education and training programmes. For those who fail to respond, or whose symptoms are severe, pharmacotherapy can be considered: Methylphenidate is first line in children and should initially be given on a six-week trial basis. It is a CNS stimulant which primarily acts as a dopamine/norepinephrine reuptake inhibitor. Side-effects include abdominal pain, nausea and dyspepsia. In children, weight and height should be monitored every 6 months If there is inadequate response, switch to lisdexamfetamine; Dexamfetamine should be started in those who have benefited from lisdexamfetamine, but who can't tolerate its side effects.

Answer 202

Epidemiology up to 50 per cent of 7-year-olds and up to 80 per cent of 15-year-old have experienced at least one headache equally as common in boys/girls until puberty then strong (3:1) female preponderance

Answer 203

Migraine without aura is the most common cause of primary headache in children. The International Headache Society (IHS) have produced criteria for paediatric migraine without aura: A >= 5 attacks fulfilling features B to D B Headache attack lasting 4-72 hours C Headache has at least two of the following four features: bilateral or unilateral (frontal/temporal) location pulsating quality moderate to severe intensity aggravated by routine physical activity D At least one of the following accompanies headache: nausea and/or vomiting photophobia and phonophobia (may be inferred from behaviour)

Answer 204

Acute management ibuprofen is thought to be more effective than paracetamol for paediatric migraine NICE CKS recommends that triptans may be used in children >= 12 years but follow-up is required sumatriptan nasal spay (licensed) is the only triptan that has proven efficacy but it is poorly tolerated by young people who don't like the taste in the back of the throat it should be noted that oral triptans are not currently licensed in people < 18 years side-effects of triptans include tingling, heat and heaviness/pressure sensations Prophylaxis the evidence base is limited and no clear consensus guidelines exist the GOSH website states: 'in practice, pizotifen and propranolol should be used as first line preventatives in children. Second line preventatives are valproate, topiramate and amitryptiline'

Answer 205

Tension-type headache is the second most common cause of headache in children. The IHS diagnostic criteria for TTH in children is reproduced below: A At least 10 previous headache episodes fulfilling features B to D B Headache lasting from 30 minutes to 7 days C At least two of the following pain characteristics: pressing/tightening (non/pulsating) quality mild or moderate intensity (may inhibit but does not prohibit activity) bilateral location no aggravation by routine physical activity D Both of the following: no nausea or vomiting photophobia and phonophobia, or one, but not the other is present

Answer 206

Kawasaki disease is a type of vasculitis which is predominately seen in children. Whilst Kawasaki disease is uncommon it is important to recognise as it may cause potentially serious complications, including coronary artery aneurysms. Features -high-grade fever which lasts for > 5 days. Fever is characteristically resistant to antipyretics -conjunctival injection -bright red, cracked lips -strawberry tongue -cervical lymphadenopathy -red palms of the hands and the soles of the feet which later peel

Answer 207

Kawasaki disease is a clinical diagnosis as there is no specific diagnostic test. Management high-dose aspirin Kawasaki disease is one of the few indications for the use of aspirin in children. Due to the risk of Reye's syndrome aspirin is normally contraindicated in children intravenous immunoglobulin echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms Complications coronary artery aneurysm

Answer 208

Phenylketonuria (PKU) is an autosomal recessive condition caused by a disorder of phenylalanine metabolism. This is usually due to defect in phenylalanine hydroxylase, an enzyme which converts phenylalanine to tyrosine. In a small number of cases the underlying defect is a deficiency of the tetrahydrobiopterin-deficient cofactor, e.g. secondary to defective dihydrobiopterin reductase. High levels of phenylalanine lead to problems such as learning difficulties and seizures. The gene for phenylalanine hydroxylase is located on chromosome 12. The incidence of PKU is around 1 in 10,000 live births.

Answer 209

Features -usually presents by 6 months e.g. with developmental delay -child classically has fair hair and blue eyes -learning difficulties -seizures, typically infantile spasms -eczema -'musty' odour to urine and sweat*

Answer 210

Diagnosis Guthrie test: the 'heel-prick' test done at 5-9 days of life - also looks for other biochemical disorders such as hypothyroidism hyperphenylalaninaemia phenylpyruvic acid in urine Management poor evidence base to suggest strict diet prevents learning disabilities dietary restrictions are however important during pregnancy as genetically normal fetuses may be affected by high maternal phenylalanine levels

Answer 211

Neonatal blood spot screening (previously called the Guthrie test or 'heel-prick test') is performed at 5-9 days of life The following conditions are currently screened for: congenital hypothyroidism cystic fibrosis sickle cell disease phenylketonuria medium chain acyl-CoA dehydrogenase deficiency (MCADD) maple syrup urine disease (MSUD) isovaleric acidaemia (IVA) glutaric aciduria type 1 (GA1) homocystinuria (pyridoxine unresponsive) (HCU)

Answer 212

Eczema occurs in around 15-20% of children and is becoming more common. It typically presents before 2 years but clears in around 50% of children by 5 years of age and in 75% of children by 10 years of age

Answer 213

Management -avoid irritants -simple emollients -large quantities should be prescribed (e.g. 250g / week), roughly in a ratio of with topical steroids of 10:1 -if a topical steroid is also being used the emollient should be applied first followed by waiting at least 30 minutes before applying the topical steroid -creams soak into the skin faster than ointments -emollients can become contaminated with bacteria - fingers should not be inserted into pots (many brands have pump dispensers) -topical steroids -wet wrapping -large amounts of emollient (and sometimes topical steroids) applied under wet bandages in severe cases, oral ciclosporin may be used

Answer 214

A cephalohaematoma is seen as a swelling on the newborns head. It typically develops several hours after delivery and is due to bleeding between the periosteum and skull. The most common site affected is the parietal region Jaundice may develop as a complication. A cephalohaematoma up to 3 months to resolve.

Answer 215

Diagnosis fine-toothed combing of wet or dry hair Management treatment is only indicated if living lice are found a choice of treatments should be offered - malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone household contacts of patients with head lice do not need to be treated unless they are also affected

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Wilms' nephroblastoma is one of the most common childhood malignancies. It typically presents in children under 5 years of age, with a median age of 3 years old. Associations -Beckwith-Wiedemann syndrome as part of WAGR syndrome with Aniridia, Genitourinary malformations, mental Retardation -hemihypertrophy -around one-third of cases are associated with a loss-of-function mutation in the WT1 gene on chromosome 11

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Features abdominal mass (most common presenting feature) painless haematuria flank pain other features: anorexia, fever unilateral in 95% of cases metastases are found in 20% of patients (most commonly lung)

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Referral children with an unexplained enlarged abdominal mass in children - possible Wilm's tumour - arrange paediatric review with 48 hours Management nephrectomy chemotherapy radiotherapy if advanced disease prognosis: good, 80% cure rate

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Retinoblastoma is the most common ocular malignancy found in children. The average age of diagnosis is 18 months. Pathophysiology autosomal dominant caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13 around 10% of cases are hereditary

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Possible features absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom strabismus visual problems

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Management enucleation is not the only option depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation Prognosis excellent, with > 90% surviving into adulthood

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Ophthalmia neonatorum simply means infection of the newborn eye. Responsible organisms include Chlamydia trachomatis Neisseria gonorrhoeae Suspected ophthalmia neonatorum should be referred for same-day ophthalmology/paediatric assessment.

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Referral points doesn't smile at 10 weeks cannot sit unsupported at 12 months cannot walk at 18 months

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Otoacoustic emission test All newborns should be tested as part of the Newborn Hearing Screening Programme. A computer-generated click is played through a small earpiece. The presence of a soft echo indicates a healthy cochlea Newborn & infants Auditory Brainstem Response test

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Auditory brainstem response

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Distraction test Performed by a health visitor, requires two trained staff

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Recognition of familiar objects Uses familiar objects e.g. teddy, cup. Ask child simple questions - e.g. 'where is the teddy?'

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- Performance testing - Speech discrimination tests Uses similar-sounding objects e.g. Kendall Toy test, McCormick Toy Test

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Pure tone audiometry -Done at school entry in most areas of the UK

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red reflex

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fix and follow to 90degrees i.e. red ball 90cm away

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Fix and follow to 180degrees no squint

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can pick up hundreds and thousands with pincer grip

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> 3 years Letter matching test > 4 years Snellen charts Ishihara plates for colour vision