Paeds Flashcards
What are the associations of Turner’s syndrome?
45XO
Lymphoedema of the hands and feet (as a neonate)
Webbing of the neck
Short stature
Wide-spaced nipples
Congenital heart defects (coarctation of the aorta, aortic stenosis - bicuspid aortic valve)
Delayed or absent puberty
Infertility
Thyroid disorders
Horseshoe kidneys
Coeliac disease
How does normal puberty in boys present?
Normal puberty starts between 9 and 13 years old
Testicular volume increases above 4ml
There is also penis enlargement, pubic hair growth and a growth spurt
Some boys can also develop transient gynaecomastia during puberty
What is congenital adrenal hyperplasia (CAH)?
This is due to a 21-hydroxylase deficiency
Infants may present with ambiguous genitalia or bilateral undescended testicles
They are also at risk of a salt-losing adrenal crisis (vomiting, weight loss, floppy unwell infant) at around 1-3 weeks of age + low glucose *Treat with IV dextrose and IV hydrocortisone
It is important to measure urea and electrolytes, as well as a chromosomal analysis and pelvic ultrasound to identify the location of the sex organs
How would you differentiate obesity from Cushing’s syndrome?
Cushing’s would present with growth failure (so low height but high weight). If a child’s height is above average even if their weight is significantly higher, it could just be obesity
How do you calculate predicted height from the parents’ heights?
The mean parental height plus 7cm for boys or minus 7cm for girls predicts the adult height of the child ± two standard deviations
When is a non-blanching rash unlikely to be meningococcal sepsis?
If it is in the superior vena caval distribution AND if the patient has normal observations - usually due to the pressure of coughing
*However ensure this is reviewed by a senior clinician
What is the order of management for DKA?
Fluid replace (rehydration for 1 hour first) –> IV insulin –> treat underlying cause
*Ensure correction of dehydration and hyperglycaemia occurs slowly over 2 days due to the risk of brainstem demylination with rapid shifts in salts in the cerebrospinal fluid
What are signs of life-threatening asthma?
Agitation
Cyanosis
Silent chest
Fatigue and drowsiness
Poor respiratory effort
Peal flow <33% of expected
*If by chance you do a blood gas, a sign of life-threatening asthma is hypercapnia causing a respiratory acidosis (you would expected CO2 to be low due to hyperventilation, until they become too tired to ventilate which is when this becomes life-threatening).
What are signs of severe asthma?
Too breathless to talk or feed
Tachycardia
Tachypnoea
Peak flow between 33 and 55% of expected
What are the different types of shock and how do they present?
Distributive - shift in fluid to the intrerstitium which results in intravascular hypovolaemia and shock (can cause pulmonary oedema due to the capillary leak of fluid into airway tissues)
Hypovolaemic - due to haemorrhage or dehydration and patient would be pale, cool and poorly perfused
Septic - history of fever suggestive of infection
Cardiac - heart is unable to meet the ciruclatory demands of the body, usually presents with chest pain or other cardiac symptoms. Most common in congenital paediatric cardiac disorders or Kawasaki’s disease
Obstructive - blockage of blood flow from the heart, either due to cardiac tamponande, fluid in the pericardial sac compressing the heart or tension pneumothorax
What is the next step in management in status epilepticus after taking two doses of barbiturates?
IV/IO phenytoin - you avoid further doses of barbiturates due to respiratory depression
How does iron overdose present?
Two phases:
1- early vomiting and diarrhoea due to gastric irritation and may present with haematemesis or melaena
24 hour period of improvement
2 - deterioration with liver failure (hypoglycaemia and seizures), drowsiness and coma
How does IM adrenaline work?
It reduces the capillary leakage which produces airway oedema - it is used in anaphylaxis in a dosage of 1:1000, 250micrograms
*It causes vasoconstriction, bronchodilation and temporarily slows down the anaphylactic process which is histamine-driven
What other conditions are associated with Down’s syndrome?
Cardiac: VSD, AVSD, ToF
Endocrine: hypothyroidism, Addison’s disease, T1DM
Ocular: cataracts
Malingnancy: leukaemia
Gastrointestinal: duodenal atresia, Hirschprung’s disease
MSK: atlanto-axial instability
*Also increased risk of Alzheimer’s disease in later life
How is Prader-Willi inherited?
It is inherited by genetic imprinting - where one copy of the gene (either maternal or paternal) is suppressed and the other one is expressed.
In Prader-Willi syndrome, it is the loss of part of the paternal chromosome 15
What is galactosaemia?
It is due to a deficiency in galactose-1-phosphate uridyl transferase.
it results in illness with lactose-containing milks - there is vomiting, cataracts and recurrent episodes of E.coli sepsis
What is the inheritance pattern of Marfan’s syndrome?
It is an autosomal dominant condition affecting the fibrillin gene.
It is a connective tissue disorder affecting the MSK, ocular and cardiac systems
What is oculocutaneous albinism and what are patients at risk of?
It is a metabolic condition affecting the production of skin pigment melanin, to which patients are at risk of skin malignacies especially if there is prolonged sun exposure
What are physical features in Down’s syndrome?
Hypotonia from birth (centrally and peripherally)
Dysmorphic faces (low set ears, epicanthic folds, protuding tongue, flattened nasal bridge)
Single palmar crease
Sandal gap toes
What is respiratory distress syndrome?
It is secondary to surfactant deficiency due to the immaturity of type 2 pneumocytes in the alvoeli of the developing lung.
Preterm babies are at risk due to their gestational age. They require artificial surfactant and ventilatory support as their lungs are prone to atelectasis.
*Their lung parenchyma is structurally immature but functional.
What is VACTERL syndrome?
It is a disorder that affects many body systems:
Vertebral defects
Anorectal atresia
Cardiac defects
Tracheo-oEsophageal fistula
Renal anomalies
Limb abnormalities
What are babies with gastroschisis at risk of?
They are at risk od dehydration, hypothermia and electrolyte imbalances.
Gastroschisis is when there is a hernation of the bowel through the defect in the anterior abdominal wall of the developing fetus
What are causes of asymmetrical IUGR?
Placental insufficiency from maternal diabetes and pre-eclampsia
*Asymmetrical IUGR suggests an insult late in pregnancy with head growth sparing
What are causes of symmetrical IUGR?
Chromosomal anomaly
Maternal smoking
Congenital infection
Maternal alcohol use
*There is low birth weight and head circumference changes (suggests IUGR happened in 1st trimester)
What is Wilson’s disease?
Autosomal recessive defect in copper metabolism that results in copper deposition in the tissues (especially Kayser-Fleischer rigs in the eye).
It causes liver failure with cirrhosis, neurological sequelae, renal involvement and cardiac complications.
Patients also develop haemolytic anaemia due to copper deposits in the red cell membrane. Thus, patients have a palpable liver and spleen, with anaemia and upper abdominal pain.
What is the management for paediatric constipation?
1st line = increase fibre and fluid intake, and exercise
*Consider behavioural change management and toileting using star charts to promote good toileting behaviour
2nd line (if lifetsyle changes do not work or if there is vomiting) = osmotic laxatives (i.e. movicol). If these do not work, then add on a stimulant laxative (senna)
Is hepatitis A a notifiable disease?
Yes, to the Health Protection Agency of Public Health England
How does autoimmune hepatitis present?
More common in females
Presents between ages 10 to 30 with either chronic liver failure or acute hepatitis
Anti-ANA antibody positive (80% of cases)
Anti-smooth muscle antibody positive (70% of cases)
How does pneumonia in children present?
Chest pain
Fever
Upper abdominal pain (in lower lobe pneumonias)
Vomiting due to inflammation of upper airways triggering the gag reflex and increased work of breathing (puts pressure on sotmach just below the diaphragm)
Which of the following is not a cause of PR bleeding?
- Constipation with an anal fissure
- Intussusception
- Meckel’s diverticulum
- Bacterial gastroenteritis
- Adominal migraine
Adominal migraine
Abdominal pain is usually the first presentation of a migraine in children, in the context of a family history of migraine
What is the management of Toddler’s diarrhoea?
It is a common cause of loose stool in pre-school aged children. It requires no treatment most of the times.
It is due to the immature development of intestinal motility and usually resolves by the age of 5.
Consider loperamide if it becomes socially disruptive to the child and if he becomes unable to attend school.
What is choanal atresia?
It is the congenital blockage of the nasal airway which presents with newborn cyanosis and respiratory distress (as children are mostly nasal breahters).
Treatment is surgery under general anaesthesia, where nasal stents are placed in each nostril and held together by stitches.
*Despite being in the name, it has no relation to the anus.
What is meconium plug syndrome?
It is a transient immaturity of the gut resulting in failure to move a plug of meconium. It can result from Hirschsprungs disease or cystic fibrosis (causing a meconium ileus). Management is with anal stimulation with a glycerine suppository or a radioopaque contrast enema.
Name complications of periorbital cellulitis
Visual loss
Abscess formation
Septicaemia
Orbital cellulitis
Meningitis
Oribital cellulitis vs periorbital cellulitis
Periorbital cellulitis involves the area from the skin of the eyelid to the bony area that encloses the eye.
Orbital cellulitis is an infection that involves the eye and the eye structures within the bony cavity of the face.
You can use a CT or MRI but MRI is preferred.
What are the complications of congenital cytomegalovirus (CMV) infection?
Sensory-neural hearing loss
IUGR
Hydrocephalus and periventricular calcification
Thrombocytopenia
Microcephaly
Jaundice and blueberry muffin rash
Hepatosplenomegaly
Chorioretinitis –> cataracts
*These usually occur after infection in the first trimester
What are febrile seizures?
Generalized seizure that occurs in association with
a fever, in a child with no neurological abnormality.
They are common in children aged 6 months to 6 years. It is thought to occur with the rapid rise in temperature at the star of an infective illness (especially viral)
What is erythema multiforme?
Rash described as target lesions with a surrounding red ring
It can be caused by:
drugs (e.g. penicillin)
infection (e.g. atypical pneumonia)
idiopathic
What is erythema nodosum?
It is a rash caused by swollen fat under the skin making its appearance red/darker
It can be caused by:
IBD
drugs (e.g. sulphonamides)
infections (e.g. streptococcus)
autoimmune conditions
malignancy
What is erythema migrans?
It is a rash seen in Lyme’s disease
What is erythema toxicum?
It is a benign rash (characteristically small pustules or vesicles surrounded by an erythematous area) seen in newborns in the first 2 weeks of life
What is erythema marginatum?
It is seen in rheumatic fever alongside its cardinal symptoms of carditis, arthralgia, subcutaneous nodules, Sydenhma’s chorea
What is Severe combined immunodeficiency (SCID)?
It is a group of disorders characterised by B and T cell dysfuntion - you will present with low B cells and therefore low immunoglobulins, and low T cells
What is hyper IgM syndrome?
As the name describes, there is an overload of IgM antibodies - this is caused by a defect in the CD40 ligand resulting in defective class switching. B cell and T cell numbers are normal.
What is DiGeorge syndrome?
It is caused by the microdeletion on chromosome 22q11.2
It manifests as cleft palate, aortic arch and other cardiac abnormalities (ToF, VSD), thymic hypoplasia, hypocalcaemia and learning difficulties
Microdeletions are best detected with FISH (fluorescence in situ hybridisation)
What are two important infective complications of eczema?
- Cellulitis (bacterial superinfection). This is usually caused by gram+ve cocci (staphylococcus and streptococcus) - occurs due to breakage of the skin barrier in the eczematous areas which allows entry of bacteria into the inflamed epidermis and dermis.
- Eczema hepeticum (herpes simplex virus infection)
How can a severe respiratory infection in early childhood later present?
It can present with bronchiectasis - dilation and poor mucociliary clearance with predisposition to further infection
When would you suspect Mycoplasma pneumoniae instead of Streptococcus pneumoniae pneunominal infection in children?
Although Streptococcus pneumoniae is the most common typical cause of pneumonia, it is more likely in under 4 year olds. Meanwhilse, Mycoplasma pneumoniae would be more common in older children
Which of the folllowing is not a complication of primary ciliary dyskinesia (PCD)?
* Pancreatic insufficiency
* Infertility
* Sinusitis
* Bronchiectasis
* Dextrocardia
Pancreatic insufficiency - pancreatic secretions are not reliant on cilia for the expulsion of enzymes and pancreatic fluids. They travel along the pancreatic duct and join biliary secretions at the ampulla of Vater.
PCD affects the respiratory tract and reproductive organs as they are both aligned with cilia to ensure movement of particles.
Cilia is also involved in the determination of sites of internal organs during development - children can present with dextrocardia alone or situs inversus
What is chronic lung disease and how does it occur?
Chronic lung disease is by definition an oxygen requirement at 36 weeks corrected gestation or at 28 days post-term.
It occurs in premature babies as a consequence of barotraumas or volutrauma during ventilation, surfactant deficiency and oxygen therapy (thought pathophysiology is complex). It can be minimised by using the lowest possible pressure and volume settings to optimise respiratory function in premature infants.
These children are at risk of respiratory tract infections, particularly RSV for which paluvizumab can be given prophylactically
Which lung and which lobe do foreign bodies most likely obstruct?
Right middle lobe - the right main bronchus is the widest, shortest and most vertical of the bronchi, so it is the path of least resistance for the foreign body to descend
What does the newborn blood spot screening (NBSS) test detect?
Cystic fibrosis
Congenital hypothyroidism
Sickle cell disease
Severe combined immmunodeficiecny (SCID)
Inherited metabolic diseases (like phenylketonuria or medium chain acyl dehydrogenase deficiency)
What best represents respiratory complications of muscular dystrophy?
- Normal FVC, low FEV1/FVC ratio
- Flattened diaphragms on CXR
- Morning dips in peak expiratory flow rate
- Extrathoracic obstruction on flow-volume loops
- Reduced FVC, normal FEV1/FVC ratio
Restrictive pattern of respiratory disease (reduced FVC, normal FEV1/FVC ratio). This is due to weak intercostal and diaphragmatic muscles and scoliosis –> reduced capacity for lung and chest wall expansion.
1 and 3 are seen in asthma where there is an obstructive pattern (poor airflow)
2 is seen in hyperinflation and air trapping, for example bronchiolitis
There is no history suggestive of extrathoracic obstruction (3) such as chest pain, cough or lymphadenopathy
What type of rib fractures are highly suspicious of non-accidental injury?
Posterior rib fractures
What is the most common congenital heart defect?
Ventricular septal defects (VSDs)
The 2nd most common is patent ductus arteriosus
What are common symptoms and signs associated with congenital heart disease?
Respiratory distress and sweating with feeds - the effort of feeding tired the child out and burns calories so they may have growth resterictions and failure to thrive
Hepatosplenomegaly can develop secondary to right-sided heart failure
They can also present with cyanosis if there is a right-to-left-shunt
What does a child with a history of intercurrent illness suddenly being unwell with tachycardia suggest?
Supraventricular tachycardia (may be caused by Wolff-Parkinson-White syndrome). They would usually present with a narrow complex tachycardia.
SVT is the most common childhood arrhythmia and you would treat by doing:
1. Circulatory and respiratory support
2. Vagal manoeouvres
3. IV adenosine
4. Electrical cardioversion with synchornised DC cardioversion
What is Eisenmenger’s syndrome?
When a large VSD is left untreated, it can cause high pulmonary flow eventually leading to thickening of the pulmonary artery walls with increased resistance to flow.
Eventually the shunt decreases and the person becomes less sympomatic.
However at around 10-15 years of age, the shunt suddenly reverses due to increased pressures on the right side causing cyanosis. This can cause death by right-sided heart failure by the ages of 40-50,
Which is not a feature of cardiac insufficiency?
- Scattered wheeze on auscultation of the chest
- Central cyanosis
- Sacral oedema
- Tachypnoea with the apex beat palpable in the 7th intercostal space just lateral to the mid-clavicular line
- Hepatomegaly
Central cyanosis - can be related to other lung pathologies or right-to-left cardiac shunts
Wheeze and bi-basal crackles are due to pulmonary oedema secondary to HF
Sacral oedema - feature of HF if a child is constantly lying down
Tachypnoea and displaced apex beat is due to left ventricular hypertrophy suggestive of HF
Hepatomegaly is due to back pressure in the venous system resulting in congestion of the portal vein in HF
Which is not associated with trisomy 21?
- Tetralogy of Fallot
- ASD
- VSD
- AVSD
- Transposition of the great arteries
Transposition of the great arteries
What should a septic screen in a child <3months include?
Blood culture
Urine culture
Lumbar puncture
CXR
CRP and other basic bloods
What is the triad of nephrotic syndrome?
Proteinuria
Hypoalbuminaemia
Generalised oedema
*In children a common presentation is puffy eyes
What are causes of hypertension in children?
Essential hypertension
Renal - renal artery stenosis, chronic kidney disease, Wilm’s tumour
Cardiac - coarctation of the aorta
Endocrine - Cushing’s syndrome, phaeochromocytoma, neuroblastoma
Metabolic - hyperaldosteronism, congenital adrenal hyperplasia
Which of the following is not a complication of Wilm’s tumour?
- Hypertension
- Malnutrition
- Renal impairment
- Urinary catecholamines
- Metastatic spread
Urinary catecholamines - these would usually be seen in neuroblastomas (of which catecholarmines would be produced from the adrenal medulla)
What are the presenting symptoms of Henoch-Schönlein purpura?
Arthralgia
Rash (urticarial to purpuric)
Abdominal pain
Renal involvement (hypertension, nephrotic syndrome)
It is a common paediatric condition affecting 3-10 year olds, commonly followed by a viral illness - there are GI and renal complications but these are usually benign and self-limiting
What are the types of polycystic kidney disease?
Autosomal recessive - presents in childhood with bilateral renal masses, respiratory distress due to pulmonary hypoplasia and congenital hepatic fibrosis with pulmonary hypertension. It is due to tubular dilation of the distal collecting system. Renal function is impaired and progressively deteriorates, requiring renal replacement therapy (dialysis or transplant).
Autosomal dominant - may present in older children or adults. The cysts are grossly dilated nephrons which compress normal renal tissue. It affects renal, hepatic and cerebral vasculature
What triggers painful crises in sickle cell disease?
Cold weather
Infection
Hypoxia
Dehydration
What is the initial management for painful crises in sickle cell disease?
Analgesia (e.g. oramorph)
Rewarming
Antibiotics
Oxygen
IV fluids
What is a common presentation of acute leukaemia?
Limp due to bone pain secondary to dissemination of the disease - do FBC and blood film to look for signs of pancytopenia and the presence of blast cells
What should be done before giving steroids for ITP?
Bone marrow aspirate to exclude malignancy (due to risks of further immunosuppression)
What are the complications of tumour lysis syndrome and how do you treat it?
Hyperkalaemia
Hyperphosphataemia (which leads to hypocalcaemia)
Gout (hyperuricaemia)
Fluid overload or dehydration
You treat it by giving hyperhydration (with sufficient diuresis to prevent fluid overload), allupurinol, rasburicase and regular monitoring of electrolytes
What are the different types of von Willebrand’s disease (vWD)?
Type 1 (autosomal dominant) - partial deficiency of vWF
Type 2 (autosomal dominant) - defective vWF
Type 3 (autosomal recessive) - complete deficiency of vWF
Why can children present with severe iron deficiency anaemia after 4 months?
Children have sufficient irons tores for 4 months after birth, but after this they require supplementation which usually comes from the introduction of pureed and solid foods.
Hence they can present with microcytic anaemia and low ferritin (iron stores) and low circulating iron. Delayed weaning can also present with hypocalcaemia and poor weight gain.
What is a port wine stain?
Also known as naevus flammeus. It presents as a pink-red flat area of erythema with no involvement with local structures.
It is a capillary vascular malformation in the dermis, present from birth and will persist for life. If it is present in the trigeminal distribution, a small proportion of children will have underlying brain involvement (Stuge-Weber syndrome) so an MRI is needed to dectect if the child is at risk of seizures and developmental problems
What is the classical picture of infected eczema?
Staphylococcal infection - red inflamed skin with yellow crusts
*Remember to also rule out eczema herpeticum
How does a superior vena caval distribution of a capillary rupture present?
Petechiae in the SVC region often caused by raised pressure from coughing or vomiting (which can be caused by coughing)
Which of the following is not a cause of erythema nodosum?
- Oral contraception
- Tuberculosis infection
- Hepatitis B infection
- Streptococcal infection
- Sarcoidosis
Hepatitis B infection
*Erythema nodosum are tender red nodules on the shins
What is molluscum contagiosum?
It is an infection caused by pox virus and this leads to multiple small pink skin-coloured pearly papules that are umbilicated centrally. Common locations are the chest, abdomen, back, armpits, groin, back of knees
They are usually self-limiting and will self-resolve within a year. Counsel for appropriate hygiene (wear long sleeve clothes).
Occasionally they may need antibiotics following a bacterial superinfection. Chronic papules (>2 years) may need cryotherapy.
What is a Mongolian blue spot?
It is a discoloration of the skin (to blue/black) at the base of the spine and on the buttocks. This is more common in darker-skinned races.
They are self-limiting and will fade as the child grows up around the age of 4.
What is erythema toxicum?
It is a common innocent rash of the newborn with an erythematous base with small pustules.
It spreads all over the body for the first weeks of life and then fades after a couple of weeks
*Remember to exclude congenital infections
What is the aetiology of type 1 diabetes mellitus?
Autoimmune destruction of B cells of the islets of Langerhans in the pancreas
What are signs of congenital hypothyroidism?
Usually asymptomatic and identified on screening (raised TSH)
Reduced feeding
Faltering growth
Prolonged jaundice
Constipation
Pale, cold, mottled dry skin
Coarse facies
Large tongue
Hoarse cry
Goitre (occasionally)
Umbilical hernia
Delayed development
What is the management for hyperthyroidism?
Hyperthyroidism is due to high pituitary stimulation (high TSH) or endogenous thyroid production (low TSH)
You would manage by giving carbimazole which suppresses thyroxine production. You can also give propanolol for sympotmatic relief (especially tremors).
If these do not work, you would then consider radioisotope treatment and surgery.
Which is not a complication of Cushing’s syndrome?
- Osteoporosis
- Short stature
- Gastric irritation
- Hypertension
- Hypoglycaemia
Hypoglycaemia - there is actually a tendancy to hyperglycaemia
Other complications include weight gain (truncal obesity and subscapular fat pad), cataracts, striae, thinning of skin with increased bruising, proximal myopathy, increased susceptibility to infection and adrenal suppression
What are signs of Klinefelter’s?
Delayed puberty with gynaecomastia
Tall stature
Hypogonadism
They are karotypically 47 XXY
What is the most common cause of delayed puberty?
Constitutional delay - diagnosis of exclusion
Ensure you exclude hypothalamo-pituitary dysfunction (by measuring GnRH, LH and FSH)
What is a greenstick fracture?
A fracture of the long bones in young children where only one cortex is broken and the other is buckled - this is because of young bones being more soft and flexible so a forceful impact will bend the bone rather than break it
What is osteogenesis imperfecta?
Also known as brittle bone disease - it is a collagen metabolism disorder (autsomally dominant inheritance).
Common presentation is development of fractures in utero.
Signs and symptoms include: blue sclera, short stature, loose joints, hearing loss, teeth abnormalities, breathing and heart valve problems
What is oligoarthritis?
It is an arthritis presentesenting with <5 affected joints in the first 6 weeks - if other joints become affected after, it becomes known as extended oligoarthritis
What is psoriatic arthritis?
Interphalangeal joint swelling with scaly skin rash, nail pitting and dactylitis
What is polyarticular arthritis?
It presents with symmetrical arthritis of the wrists, hands, ankles and knees - occasionally the spine and jaw may be affected.
It is more common in girls
What is enthesitis-related arthritis?
aka juvenile spondylitis - inflammation of enthesesis (areas where tendon and other connecting tissues join to bone)
It presents in older boys with large joint arthritis, swollen tender tendons, sacro-iliitis and bamboo spike on XR.
It is associated with anterior uveitis which if left untreated may cause blindness
What is the ideal imaging to diagnose osteomyelitis?
MRI - as it can show acute inflammatory bone changes (with periosteal reactions) and soft tissue swelling - this would only be noticed in an x-ray 2-3 weeks later.
What is a strawberry nevus?
Also known as a cavernous haemangioma
These are not present at birth and will typically appear in the first month. They will grow larger before shrinking and disappearing typically before the age of 5. They may compress neighbouring structures as they grow and sometimes ulcerate with troublesome bleeding. They are not flat.
What is a capillary haemangiona?
aka “stork bite”. This is a pink macule found on the eyelids, central forehead or nape of the neck due to the distension of the dermal capillaries - they mostly fade over the first year.
Those on the neck may persist but will be covered by hair.
What is an absence epilepsy?
They usually presence with a brief impairment of consciousness (approx 5-10 seconds)
They have a behavioural arrest and usually stare - can contribute to falling behind on school work.
EEG will show three spike waves per second in all leads
What is the difference between breath holding attacks and reflex anoxic seizures?
Breath holding attacks are common in toddlers at times of temper tantrums - the children grow out of them and not treatment is necessary, ensrue you reassure the parents
Reflex anoxic seizures typicall occurs when a child is frightened or hurt (i.e. bump to the head). The child goes pale and faints, hypoxia may cause a short seizure but the child quickly recovers.
What are signs of hypoxic ischaemic encephalopathy (HIE)?
What differs mild HIE from moderate HIE?
Signs of HIE include poor feeding, altered tone and seizure activity on EEG - due to hypoxic insult perinatally
Mild HIE presents with irritability, startle responses, poor feeding and hyperventilation
Moderate HIE further has altered tone, reduced movement and seizure activity
Which is not a feature of raised ICP?
- Headache
- Morning vomiting
- Sun setting eyes
- Bulging anterior fontanelle
- Papilloedema
Bulging anterior fontanelle - this only occurs in younger children when their fontanelle has not closed, so it provides extra space for the fluid to escape. In older children, this would present as raised ICP
Side effects of sodium valproate
Increased appetitie
Weight gain
Hair loss
Liver failure
Teratogenic
Side effects of carbamazepine
Lupus erythematous syndrome
Dizziness
Visual disturbances
Side effects of lamotrigine
Rash
Behavioural changes
Irritability
Side effects of vigabatrin
Behavioural changes
Retinopathy
Sleep disturbance
Weight gain
Side effects of levetiracetam (keppra)
Anorexia
Abdominal pain
Vomiting
Diarrhoea
Behavioural changes
Thrombocytopenia
What is tuberous sclerosis?
It is a neurocutaneous syndrome usually caused by de novo mutations (70% of cases)
Cuteanous features:
* Depigmented ‘ash-leaf’ patches/amelanotic naevi (Wood’s light)
* Shagreen patches (roughened patches of skin over lumbar spine)
* Angiofibromata (in distribution over nose and cheeks)
Neurological features (50%):
* Infantile spasms
* Focal seizures
* Developemntal delay
* Intellectual disability (often with ASD)
Other features:
* Angiomyolipomas
* Subependymal giant cell astrocytomas (which can go on to cause non-communicating hydrocephalus)
What are the three complications associated with minimal change disease
Thrombosis - loss of AT-III in the urine
Infection - loss of immunoglobulin in the urine
Hypercholesterolaemia - urinary albumin loss leads to hepatic cholesterol synthesis
Indication for USS scan for DDH
At 6 weeks
Breech presentation at 36/40 (regardless of presentation at delivery)
Breech delivery (including <36/40)
Family History of DDH
Investigations for DDH
<6m old: Barlow and Ortolani manoeuvre at neonatal screen ± USS (if suspicion remains)
> 6m old: X-ray (better than USS at this age)
Management for DDH
< 6 months: Pavlik Harness for between 6 to 12 weeks. This keeps hips flexed and abducted with progress being monitored through USS or X-ray
> 6 months (or if conservative measures fail, or no progression with harness): Surgery involving close or open reduction, or osteotomy
What is Juvenile Idiopathic Arthritis?
Also known as Still’s Disease
Most common chronic inflammatory joint disease in children/adolescents in the UK´
Persistent joint swelling (>6w duration) presenting before 16yo, in the absence of infection or other defined cause
Signs and symptoms of JIA
Stiffness after periods of rest (gelling) - advised to continue activity as inactivity leads to deconditioning
Intermittent limp
Morning joint stiffness/pain
Limited movement
Later signs:
Inflammation ± bone expansion (overgrowth with leg lengthening/valgus in systemic onset) “Knock Knees”
Salmon-coloured rash (Koebner phenomenon)
Intermittent fever
Visual impairment (chronic anterior uveitis)
Swan-neck deformity and hand problems
Management of JIA
Need specialist paediatric rheumatology MDT
Analgesia:
1. Simple e.g. paracetamol
2. NSAID
3. Weak Opioids e.g. codeine
Corticosteroids (as an adjunct):
Intra-articular, oral or IV
Avoided if possible due to risk of growth suppression and osteoporosis
DMARDS:
1. oral or sc methotrexate
2. Sulfasalazine
Biologics / cytokine modulators (i.e. TNF-a inhibitors)
What is Osgood-Schlatter Disease (OSD)?
Osteochondritis (inflammation of cartilage or bone) of the patellar tendon insertion at the knee - tibial tuberosity
During growth spurt there may be multiple small avulsion fractures caused by quadricep muscle contractions where they insert into the proximal tibial apophysis
Signs and symptoms of OSD
Knee pain after exercise (gradual onset) relieved by rest
Localised tenderness and swelling over tibial tuberosity
Hamstring tightness
Management of OSD
Analgesia - paracetamol or NSAIDs
Intermittent application of ice packs over the tibial tuberosity (10-15 mins up to 3 times per day, including after exercise)
Protective knee pads (may relieve pain when kneeling)
Stretching
Reassure that this will resolve over time but may continue until the end of a growth spurt
Advise stopping/reducing all sporting activity (intensity, frequency or duration):
* Could change type of exercise to limit running and jumping requiring powerful quadriceps contraction
* As symptoms decrease, they can gradually increase their exercise levels
* Introduce low-impact quadriceps exercises (e.g. straight leg raises, cycling or swimming)
What is osteochondritis dissecans?
Reduced blood flow –> cracks form in the articular cartilage and subchondral bone –> avascular necrosis –> fragmentation of bone and cartilage with free movement of fragments –> activity-related joint pain
Management of osteochondritis dissecans
Pain relief (paracetamol or ibuprofen)
Rest and quadriceps exercises
Sometimes surgical intervention is needed (to remove intra-articular loose bodies)
What is osteomyelitis?
Infection of the metaphysis of long bones, commonly the distal femur and proximal tibia
* Growth plates in children can prevent further spread into joints
* In infants, before maturation of the growth plates, there can still be possible joint destruction
Often due to haematogenous spread (can be from direct insult) – commonly, staphylococcus aureus
* Normally <5yo
More chronic in onset and less severe than septic arthritis
