Paeds Flashcards

Question

Klinefelter's syndrome - Primary hypogonadism

Answer 1

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 2

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 3

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 amennorhoea' 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 4

Micrognathia Low-set ears Rocker bottom feet Overlapping of fingers

Answer 5

Webbed neck Pectus excavatum Short stature Pulmonary stenosis

Answer 6

Hypotonia Hypogonadism Obesity

Answer 7

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

Answer 8

Often picked up on newborn examination Barlow's test, Ortolani's test are positive Unequal skin folds/leg length

Answer 9

Typical age group = 2-10 years Acute hip pain associated with viral infection Commonest cause of hip pain in children

Answer 10

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 Perthes disease is 5 times more common in boys. Around 10% of cases are bilateral 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 11

Typical age group = 10-15 years More common in obese children and boys Displacement of the femoral head epiphysis postero-inferiorly Bilateral slip in 20% of cases May present acutely following trauma or more commonly with chronic, persistent symptoms Features knee or distal thigh pain is common loss of internal rotation of the leg in flexion

Answer 12

Preferred to the older term juvenile chronic arthritis, describes arthritis occurring in someone who is less than 16 years old that lasts for more than three months. Pauciarticular JIA refers to cases where 4 or less joints are affected. It accounts for around 60% of cases of JIA Features of pauciarticular JIA joint pain and swelling: usually medium sized joints e.g. knees, ankles, elbows limp ANA may be positive in JIA - associated with anterior uveitis

Answer 13

Acute hip pain associated with systemic upset e.g. pyrexia. Inability/severe limitation of affected joint

Answer 14

McCune-Albright syndrome

Answer 15

7-8 months

Answer 16

13-15 months

Answer 17

6-18 months Features paroxysmal abdominal colic pain during paroxysm the infant will characteristically draw their knees up and turn pale vomiting blood stained stool - 'red-currant jelly' sausage-shaped mass in the abdomen

Answer 18

Non-blanching rash, particularly with 1 or more of the following: ill-looking child lesions larger than 2mm in diameter (purpura) cap refill >3secs neck stiffness

Answer 19

Neck stiffness bulging fontanelle Decreased level of consciousness Convulsive status epilepticus

Answer 20

Focal near signs Focal seizures Decreased level of consciousness

Answer 21

``` Tachypnoea: >60 breaths/min - 0-5months >50 breaths/min - 6-12 months >40 breaths/min - >12 months Crackles in the chest Nasal flaring Chest indrawing Cyanosis O2 sats ```

Answer 22

``` Vomiting Poor feeding Lethargy Irritability Abdo pain or tenderness Urinary frequency or dysuria ```

Answer 23

``` Fever for > 5 days and at least 4 of: bilateral conjunctival injection change in mucous membranes change in the extremities polymorphous rash cervical lymphadenopathy ``` Management: high-dose aspirin* intravenous immunoglobulin echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms

Answer 24

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. 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) ``` Management: nephrectomy chemotherapy radiotherapy if advanced disease prognosis: good, 80% cure rate ```

Answer 25

Gram negative bacterium Bordetella pertussis Features, 2-3 days of coryza precede onset of: coughing bouts: 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) persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures symptoms may last 10-14 weeks* and tend to be more severe in infants marked lymphocytosis Management - oral erythromycin to eradicate the organism and reduce spread Women who are between 28-38 weeks pregnant will be offered the vaccine.

Answer 26

``` 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 Giant cell pneumonia Keratoconjunctivitis, corneal Ulceration Diarrhoea Increased incidence of Appendicitis Myocarditis ```

Answer 27

proteinuria (> 1 g/m^2 per 24 hours) | hypoalbuminaemia (

Answer 28

``` rapid onset high temperature, generally unwell sore throat odynophagia (painful swallowing) stridor drooling of saliva ``` Do not attempt to examine the throat! Airway obstruction. The incidence of epiglottitis has decreased since the introduction of the Hib vaccine

Answer 29

Bronchodilator therapy: Give a beta-2 agonist via a spacer 10 puffs every 10 secs Repeat dose after 10-20 mins if necessary ``` Steroid therapy To all children with an asthma exacerbation Given for 3-5 days Prednisolone - 2-5yrs - 20mg od >5yrs 30-40mg od ```

Answer 30

The most common ocular malignancy found in children. The average age of diagnosis is 18 months. 10% hereditary. absence of red-reflex, repalced by a white pupil (leukocoria) - the most common presenting symptom strabismus visual problems Management enucleation (removal of the eye) 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

Answer 31

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

Answer 32

Head lice Diagnosis fine-toothed combing of wet or dry hair Management treatment is only if living lice are found a choice of treatments should be offered - malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone School exclusion is not advised for children with head lice

Answer 33

Fragile X | Rett's syndrome

Answer 34

It is caused by the intestinal viruses of the Picornaviridae family (most commonly coxsackie A16 and enterovirus 71). It is very contagious and typically occurs in outbreaks at nursery Clinical features mild systemic upset: sore throat, fever oral ulcers followed later by vesicles on the palms and soles of the feet Management self limiting general advice about hydration and analgesia reassurance no link to disease in cattle children do not need to be excluded from school

Answer 35

respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases other causes: mycoplasma, adenoviruses may be secondary bacterial infection more serious if bronchopulmonary dysplasia (e.g. Premature), congenital heart disease or cystic fibrosis Features coryzal symptoms (including mild fever) precede: dry cough increasing breathlessness wheezing, fine inspiratory crackles (not always present) feeding difficulties associated with increasing dyspnoea are often the reason for hospital admission ``` SIGN suggested the following criteria for referral to hospital poor feeding ( 70/min nasal flaring or grunting severe chest wall recession cyanosis oxygen saturation ```

Answer 36

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. Features: high fever: lasting a few days, followed by a maculopapular rash febrile convulsions occur in around 10-15% diarrhoea and cough are also commonly seen

Answer 37

Due to imbalance in extraocular muscles Convergent is more common than divergent Detection of a squint may be made by the corneal light reflection test - holding a light source 30cm from the child's face to see if the light reflects symmetrically on the pupils ``` The cover test is used to identify the nature of the squint ask the child to focus on a object cover one eye observe movement of uncovered eye cover other eye and repeat test ``` Management eye patches may help prevent amblyopia referral to secondary care is appropriate

Answer 38

Due to paralysis of extraocular muscles Detection of a squint may be made by the corneal light reflection test - holding a light source 30cm from the child's face to see if the light reflects symmetrically on the pupils ``` The cover test is used to identify the nature of the squint ask the child to focus on a object cover one eye observe movement of uncovered eye cover other eye and repeat test ``` Management eye patches may help prevent amblyopia referral to secondary care is appropriate

Answer 39

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 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 40

Seborrhoeic dermatitis is a relatively common skin disorder seen in children. It typically affects the scalp ('Cradle cap'), nappy area, face and limb flexures. It is characterised by an erythematous rash with coarse yellow scales. Management depends on severity mild-moderate: baby shampoo and baby oils severe: mild topical steroids e.g. 1% hydrocortisone

Answer 41

1 As-required reliever therapy: short-acting beta2-agonist 2 Regular preventer therapy: inhaled corticosteroids, 200-400mcg/day* Or, if inhaled corticosteroids cannot be used, a leukotriene receptor antagonist 3 Children aged 2-5 years: trial of a leukotriene receptor antagonist. If already taking leukotriene receptor antagonist reconsider inhaled corticosteroids Children aged under 2 years: refer to respiratory paediatrician 4 Refer to a respiratory paediatrician

Answer 42

1 As-required reliever therapy: short-acting beta2-agonist 2 Regular preventer therapy: inhaled corticosteroids, 200-400mcg/day* 3 1. Add inhaled long-acting B2 agonist (LABA) 2. Assess control of asthma: good response to LABA - continue LABA benefit from LABA but control still inadequate: continue LABA and increase inhaled steroid dose to 400 mcg/day* (if not already on this dose) no response to LABA: stop LABA and increase inhaled steroid to 400 mcg/ day.* If control still inadequate, institute trial of other therapies, leukotriene receptor antagonist or SR theophylline 4 Increase inhaled corticosteroids to high-dose, up to 800mcg/day* 5 Use daily steroid tablet at lowest dose providing control Maintain inhaled corticosteroids at 800mcg/day Refer to a paediatrician

Answer 43

Sudden infant death syndrome is the commonest cause of death in the first year of life. It is most common at 3 months of age ``` Risk factors: prematurity parental smoking hyperthermia (e.g. over-wrapping) putting the baby to sleep prone male sex multiple births bottle feeding social classes IV and V maternal drug use incidence increases in winter ```

Answer 44

1. Antibiotics: 3 months: IV ceftriaxone 2. Steroids: if > 1 month and Haemophilus influenzae then give dexamethasone 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 - rifampicin

Answer 45

``` Learning difficulties (60%) Epilepsy (30%) Squints (30%) Hearing impairment (20%) ```

Answer 46

Antenatal (80%): e.g. cerebral malformation and congenital infection (rubella, toxoplasmosis, CMV) Intrapartum (10%): birth asphyxia/trauma Postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma

Answer 47

Spastic (70%): hemiplegia, diplegia or quadriplegia Dyskinetic Ataxic Mixed

Answer 48

The most common cause, due to irritant effect of urinary ammonia and faeces Creases are characteristically spared

Answer 49

Typically an erythematous rash which involve the flexures Characteristic satellite lesions

Answer 50

Erythematous rash with flakes. May be coexistent scalp rash (cradle cap)

Answer 51

A less common cause characterised by an erythematous scaly rash also present elsewhere on the skin

Answer 52

Other areas of the skin will also be affected

Answer 53

Usually not present at birth but may develop rapidly in the first month of life. They appear as erythematous, raised and multilobed tumours. Typically they increase in size until around 6-9 months before regressing over the next few years (around 95% resolve before 10 years of age). Common sites include the face, scalp and back. Rarely they may be present in the upper respiratory tract leading to potential airway obstruction Capillary haemangiomas are present in around 10% of white infants. Female infants, premature infants and those of mothers who have undergone chorionic villous sampling are more likely to be affected ``` Potential complications: mechanical e.g. Obstructing visual fields or airway bleeding ulceration thrombocytopaenia ``` If treatment is required (e.g. Visual field obstruction) then systemic steroids are used Cavernous haemangioma is a deep capillary haemangioma

Answer 54

Presentation: proteinuria / nephrotic syndrome / chronic kidney disease Cause: infections, rheumatoid drugs, malignancy 1/3 resolve, 1/3 respond to cytotoxics, 1/3 develop chronic kidney disease

Answer 55

Typically young adult with haematuria following an URTI

Answer 56

Classical post-streptococcal glomerulonephritis in child Presents as nephritic syndrome / acute kidney injury Most common form of renal disease in SLE

Answer 57

Typically a child with nephrotic syndrome (accounts for 80%) Causes: Hodgkin's, NSAIDs Good response to steroids

Answer 58

May be idiopathic or secondary to HIV, heroin Presentation: proteinuria / nephrotic syndrome / chronic kidney disease

Answer 59

Rapid onset, often presenting as acute kidney injury Causes include Goodpasture's, ANCA positive vasculitis

Answer 60

Type 1: cryoglobulinaemia, hepatitis C | Type 2: partial lipodystrophy

Answer 61

Absence seizures (petit mal) are a form of generalised epilepsy that is mostly seen in children. The typical age of onset of 3-10 years old and girls are affected twice as commonly as boys Features: Absences last a few seconds and are associated with a quick recovery Seizures may be provoked by hyperventilation or stress The child is usually unaware of the seizure They may occur many times a day EEG: bilateral, symmetrical 3Hz spike and wave pattern Management: Sodium valproate and ethosuximide are first-line treatment Good prognosis - 90-95% become seizure free in adolescence

Answer 62

``` BCG MMR oral polio yellow fever oral typhoid ```

Answer 63

Croup is a form of upper respiratory tract infection seen in infants and toddlers. It is characterised by stridor which is caused by a combination of laryngeal oedema and secretions. Parainfluenza viruses account for the majority of cases. Epidemiology peak incidence at 6 months - 3 years more common in autumn ``` Features stridor barking cough (worse at night) fever coryzal symptoms ``` 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 64

NICE guidelines on management 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 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 dose gradually General points do not use dietary interventions alone as first-line treatment although ensure child is having adequate fluid and fibre intake consider regular toileting and non-punitive behavioural interventions for all children consider asking the Health Visitor or Paediatric Continence Advisor to help support the parents.

Answer 65

Look for possible underlying causes/triggers (e.g. Constipation, diabetes mellitus, UTI if recent onset) ``` Advise on fluid intake, diet and toileting behaviour reward systems (e.g. Star charts). NICE recommend these 'should be given for agreed behaviour rather than dry nights' e.g. Using the toilet to pass urine before sleep ``` NICE advise: 'Consider whether alarm or drug treatment is appropriate, depending on the age, maturity and abilities of the child or young person, the frequency of bedwetting and the motivation and needs of the family'. Generally: an enuresis alarm is first-line for children under the age of 7 years Desmopressin may be used first-line for children over the ago 7 years, particularly if short-term control is needed or an enuresis alarm has been ineffective/is not acceptable to the family

Paeds Flashcards

(103 cards)