Paediatrics Flashcards
Which is preserved in FTT - head circumference, height or weight
Head circumference preserved relative to height
Height preserved relative to weight –> Normal height, tailing weight = FTT
Causes of short statue
Chronic disease
hypopituitarism
GH deficiency
Causes of increases height
Thyrotoxicosis
Precocious puberty
Marfan’s
homocystinuria
Causes of increased weight
Too much food/Not enough exercise Hypothyroidism Cushing's Prader-Willi Bardet-Bield Cohen syndrome PCOS
Causes of Hypothyroidism
Congenital: thyroid dysgenesis, dyshormonogenesis, athyreosis; also maternal anti-thyroid drugs
Acquired: prematurity, Hashimoto’s thyroiditis, hypopituitarism, x-rays, Down’s syndrome
Hypothyroidism Symptoms
Early: may be none at birth; prolonged neonatal jaundice; widely opened posterior fontanelle; poor feeding; hypotonia; dry skin; inactivity; sleepiness; slow feeding; little crying; constipation; coarse dry hair; flat nasal bridge; protruding tongue; hypotonia; umbilical hernia, slowly relaxing reflexes, bradycardia, poor growth and mental development
Late: low IQ, delayed puberty, short stature, delayed dentition
Nb: X-ray of left wrist/hand - bone age
Paediatric DM diagnostic criteria & Mx
Diagnostic criteria:
Signs of hyperglycaemia
Venous blood glucose: >7mmol/L (fasting) or >11.1mmol/L (random
Mx:
Involve patient, family and school
May be “partial remission phase” with start of insulin
Insulin: 1/3 dose should be rapid acting and 2/3 should be long acting; 2/3 should be given pre-breakfast and 1/3 pre-dinner
May need SC insulin infusion
Diet plan
DKA Dx
hyperglycaemia (>11.1mmol/L), acidosis (pH
DKA Mx
Do GCS
Resuscitate: oropharyngeal airway; 100% O2, ?intubation; 0.9% saline boluses if shocked
Consider ITU if hypotensive or age when glucose falls to 14mmol/L give 0.9% saline, 5% glucose and 20mmol KCl/500ml
Start insulin only after 1 hour of IV fluids – cerebral oedema is more likely if insulin is started early
Avoid bicarbonate: can increase risk of cerebral oedema
Female Puberty Order:
1) Breast development (8.5-12.5)
2) Pubic hair/growth spurt - immediately after
3) Menarche - usually 2.5yrs after start. Signals end of growth
Male Puberty Order:
1) Testicular enlargement to >4ml volume
2) Pubic hair growth
3) Height spurt - when testicular volume is 12-15ml
Delayed/Precocious Puberty Definition
Delayed: Absence of pubertal development by 14 (female)/ 15 (male)
Precocious puberty: before age 8 (girls), 9 (boys)
Delayed puberty causes
Constitutional delay of growth and puberty – most common
Low gonadotropin secretion: systemic disease, CF, severe asthma, Crohn’s disease, organ failure, anorexia nervosa, starvation, excess physical training, hypothalamopituitary disorders, panhypopituitarism, isolated gonadotropin or GH deficiency, intracranial tumours (including craniopharyngioma), Kallman syndrome (LHRH deficiency and anosmia), acquired hypothyroidism
High gonadotropin secretion: chromosomal abnormalities, Klinefelters (47XXY), Turner’s syndrome (45XO), steroid hormone enzyme deficiencies, acquired gonadal damage
Assessment:
Male: pubertal staging (testicular volume), identification of chronic systemic disorders
Female: karyotyping, thyroid and sex hormones
Precocious puberty: Causes, investigation and management
Causes:
Central: gonadotrophin dependent e.g. craniopharyngioma or pituitary tumour
Peripheral: testis/adrenal problem; increased hCG from rare tumours
Rare: stress, thyroid disorders, choriocarcinoma, meningoencephalitis, McCune-Albright syndrome, lack of 21-hydroxylase, rare genetic defects
Ix: growth charts, puberty staging, CNS CT/MRI, bone age, urinary 17-ketosteroids, karyotyping, adrenal, testis and pelvic ultrasound, thyroid function, LH/FSH, hCG, AFP, GH, pituitary tests, oestrogen/testosterone
Complications: gynaecomastia in boys; short stature caused by early fusion of epiphyses, insulin resistance
Mx:
GnRH analogues
Anti-androgens e.g. flutamide
Spironolactone
Transient synovitis Sx:
Most common cause of acute hip pain in children
Age: 2-12 years
Often follows or is accompanied by a viral infection
Sx: sudden onset of pain in hip or limp, no pain at rest, decreased range of movement (particularly external rotation), pain may be referred to knee, patient may or may not have a mild fever
Ix: normal/slightly raised neutrophils and CRP/ESR; negative blood cultures; hip x-ray is normal, ultrasound may show a small effusion
Mx: bed rest
Osteogenesis imperfect features
Range of disorders of collagen metabolism
Causes bone fragility, bowing and frequent fractures
Type I is the most common form
Autosomal dominant
Features: blue sclerae, fractures during childhood, hearing loss
Type II can be lethal and may result in stillbirth
Commonest childhood Leukaemia?
Acute Lymphoblastic Leukaemia
ALL presentation?
Sx: pancytopenia (pallor, infection, bleeding), fatigue, anorexia, fever, bone pain, painless lumps in neck, axilla & groin; cranial infiltration can lead to CNS effects e.g. cranial palsies; testicular infiltration can lead to orchidomegaly
Ix:
Bloods: deranged WCC; normochromic, normocytic anaemia; low platelets; raised urate; raised LDH
Marrow: 50-98% of nucleated cells will be blasts
CSF: pleocytosis, raised protein, low glucose
CXR: mediastinal mass
Cytogenetic analysis: 80% will have genetic abnormalities
G6PD triggers + presentation
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
Commonest red cell enzymopathy
X-linked
Red cells lacking G6PD are susceptible to oxidant induced haemolysis
Sx:
Neonatal jaundice within first 3 days of life
Acute haemolysis precipitated by infection, drugs (e.g. antimalarials, sulphonamides, quinolones, aspirin), fava beans, naphthalene (moth balls) – fever, malaise, dark urine
Ix: measure G6PD activity in RBCs when well (may be misleadingly elevated during a haemolytic crisis)
Mx: avoid triggers
PC: Dark urine (Haemolysis), yellow stools (non-obstructive) , Med origin
What is hereditary spherocytosis?
Hereditary spherocytosis
Main cause of haemolysis in north European children
Often mild
Caused by mutations in genes for skeletal proteins of red cell membrane
Red cell loses part of its membrane when it passes through the spleen causing a reduction in surface to volume ratio leading to the cells becoming spheroidal
Spheroidal cells are less deformable than normal red cells and are destroyed in the microvasculature of the spleen
Sx: jaundice, anaemia, splenomegaly
Parvovirus B19 infection can trigger transient severe anaemia or an aplastic crisis
Mx: oral folic acid; splenectomy
Causes of Purpura
Meningococcal sepsis HSP (well & normal platelets) ITP (well and low platelets) Leukaemia DIC HUS Viruses (measles/enteroviruses) Other Vasculities SBE Wiskott-Aldrich Syndrome Aplastic Anaemia
HSP? What is the classic triad?
Acute immune complex mediated vasculitis
Most patients have an antecedent URTI
Sx:
Classic triad: purpura, arthritis/arthralgias and abdominal pain
Renal involvement, scrotal oedema and intussuscption
Ix:
Raised ESR, raised IgA, raised ASO titres
Proteinuria
Mx: steroids; most recover in
ITP?
Chief acquired bleeding disorder in childhood
Can be acute or chronic
Recent history of URTI/gastroenteritis
May follow CMV, EBV, parvovirus, VZV or live virus vaccine
Sx: acute bruising, purpura, petechiae
Ix: isolated thrombocytopaenia, abnormal cells on file, lymphadenopathy; CT head if signs of intracranial haemorrhage
Mx:
Steroids or immunoglobulin may be needed
Admit if excessive bleeding
Platelet transfusion for life threatening bleeding
Splenectomy for chronic ITP and failure of treatment
Prognosis:
Gradual resolution over 3 months in 80% with or without therapy
20% become chronic – normal life can be lived but avoid contact sports
What is the most common Primary immunodeficiency in kids and how do they present?
IgA deficiency
Many are asymptomatic, but may tend to develop resp infections which may lead to bronchiestasis.
Also associated with GI infections eg. giardia, malabsorption, coeliac disease & UC
nb. Complications: blood products and IV immunoglobulin infusion can lead to anaphylaxis due to the presence of IgA; if needed, blood products should be obtained from a IgA-deficient individual—or washed red cells given
What is the commonest INHERITED antibody deficiency?
Bruton x-linked agammaglobulinaemia
Tyrosine kinase gene mutation (xq21) causes low immunoglobulins and low mature b cells hence increased susceptibility to bacterial (but not viral) infections
Lymphocytes are unable to synthesize immunoglobulin.
Age: 3months–3years
Sx: arthropathy + absent Peyer’s patches, tonsils and appendix.
Prevalence: 1 in 250,000 (the commonest inherited antibody deficiency)
Complications: septicaemia and CNS infections (may require interferon-α and high-dose iv immunoglobulin)
Mx: marrow transplantation; serum immunoglobin should rise to normal levels over 3 months
Most common muscular dystrophy? What is the inheritance?
Duchenne’s Muscular Dystrophy
Affects 1 in 4000 male infants
X linked inheritance
Loss of dystrophin protein which is responsible for maintaining integrity of muscle cell wall
Influx of calcium ions into muscle cells leads to destruction of muscle cells
Presentation and Mx of DMD
Sx: waddling gait, language delay, selective atophy of muscles e.g. pectoralis major and brachioradialis, no longer ambulant by age 10-14, death in late teens/twenties from respiratory failure or associated cardiomyopathy
Ix: raised serum CK; muscle biopsy staining
Mx:
Exercise helps to maintain muscle power and mobility and delays scoliosis
Passive stretching and night splints to prevent contractures
Orthoses
Lengthening of Achilles tendon
CPAP/NIPPV overnight to prevent hypoxia due to weakness of intercostal muscles
Ambulant children – prednisolone for 10 days per month to preserve mobility
Differences between DMD and Becker’s Muscular dystrophy?
Some functional dystrophin is produced
Similar features to Duchenne’s but progresses more slowly i.e. onset at age 11, inability to walk in twenties and death in forties
Neurofibromatosis: inheritance?
Types?
Autosomal dominant inheritance
Affects 1 in 3000 births
One third are de novo mutations
Type 1 more common (classic type)
Neurofibromatosis Diagnostic Criteria?
Diagnostic criteria – two or more of the following:
Six or more café-au-lait spots >5mm in size before puberty; >15mm in size after puberty
More than one neurofibroma: dermal - small nodules which appear at puberty and may become papillomatous
nodular - arise from nerve trunks; can give rise to paraesthesiae if pressed
Freckling in skin folds e.g. axilla
Optic glioma – may cause visual impairment
One Lisch nodule: tiny harmless hamartomas on the iris
Bony lesions from sphenoid dysplasia which can cause eye protrusion
1st degree relative with NF1
Neurofibromatosis complication and management?
Complications:
Mild learning disability
Megalencephaly with learning difficulties and epilepsy is sometimes seen
Cutaneous features become more evident after puberty
Nerve root compressions - visual/auditory impairment can occur if CN II or CN VIII are compressed
GI bleeds & obstruction
Bone – cystic lesions, scoliosis, pseudoarthrosis
Renal artery stenosis/phaeochromocytoma – hypertension; malignancy
Management:
Most people with NF1 carry no other features other than the cutaneous stigmata
MDT care; monitoring of BP; excision of some dermal neurofibromas if troublesome; genetic counselling
Neurofibromatosis type 2?
Autosomal dominant inheritance
50% are do novo
Less common than NF1
Presents in adolescence
Features:
Few café-au-lait spots
Bilateral vestibular Schwannomas (acoustic neuromas): cause sensorineural hearing loss at age 20
Cerebellopontine angle syndrome with CN VII paresis and cerebellar ataxia
Juvenile posterior subcapsular lenticular opacity: form of cataract
Complications: tender Schwannomas of cranial and peripheral nerves and spinal nerve roots; meningiomas
Management: hearing tests; MRI brain; neurosurgical treatment of Schwannomas
TS Inheritance and associations?
Aut-Dom, but up to 70% are new mutations.
Associated with learning difficulties and epilepsy, as well as involvement of any organ including skin:
CNS: - Giant cell astrocytoma (associated with epilepsy and behavioural problems), may have focal neurological deficits, raised ICP
Retinal astrocytomas
Cardiac Rhabdomyomas - Detect by echo, may cause heart failure.
Arrhythmias (WPW), thromboembolism or sudden cardiac death
Renal Angiomyolipomas & cysts
Pulmonar lymphangioleiomyomatosis
Bone cysts and new periosteal bone formation
TS: Features
Cutaneous:
- Ash leaf patches
- Shagreen patches (roughened patches of skin usually over lumbar spine)
- Adenoma sebaceum (angiofibromata) in a butterfly distribution over bridge of nose/cheeks
Neurological:
- Infantile spasms & developmental delay
- Epilepsy (often focal)
- Intellectual impairment
Other:
- subungal fibromata
- Dense white areas on retina (phakomata) from local degeneration
- Rhabdomyomata of heart
- PCKD
Sturge-Weber?
Sporadic disorder
Port-wine stain in trigeminal distribution associated with similar lesion intracranially
Ophthalmic (v3) of V always involved
Features: Epilepsy, learning disability & hemiplegia
Ix: Calcification of gyri causes characteristic rail road track calcification on skull X-ray
Causes of raised ICP
- meningoencephalitis
- Head injury
- Subdural/extradural bleeds (NAI?)
- hypoxia
- Ketoacidosis
- Tumours
- Thrombosis
- Reye’s syndrome
Raised ICP symptoms? What is Cushing’s triad?
Listless, irritable, drowsy, headache, diplopia, vomiting, tense fontanelle, decreased GCS, pupil changes, abnormal posturing
Cushing’s triad: Slow pulse, raised BP and breathing pattern abnormalities - warns of imminent coning.
Papilloedema and hydrocephalus are signs of chronic raised ICP
Mx of raised ICP?
Aim to prevent ischaemia
Keep head in midline and elevate to 25° to help venous drainage
Give O2
Treat hypoglycaemia
Control seizures
Do not do an LP
If severe take to ITU and monitor ICP and cerebral perfusion pressure (if CPP
Herpes Simplex Encephalitis?
Most treatable encephalitis
Sx: fever, focal/general seizures, CNS signs, decreased consciousness
Ix: CT, EEG and CSF often non-specific; PCR; MRI
Mx: acyclovir
CNS sequelae: Kluver-Bucy syndrome (hypersexuality, rage, visual agnosia), aphasia, amnesia, auditory agnosia, autism
Types of Paediatric Brain Tumours?
Brain tumours
Sx: unexplained headache, focal symptoms e.g. progressive weakness/numbness, unsteadiness, difficulty speaking, vision changes, CN VI nerve palsy
Consider in children with lethargy, behavioural change, visual disturbances, diabetes insipidus, growth disturbances, nausea and vomiting
Medulloblastoma
Midline cerebellar embryonal tumour
Age: peak at 4 years
Sx: raised ICP, speech difficulty, truncal ataxia, falls
Mx: surgical resection and radio/chemotherapy
Brainstem astrocytoma
Most common brain tumour in children
Associated with neurofibromatosis and prior radiation
Sx: CN palsies, pyramidal tract signs, cerebellar ataxia, signs of raised ICP
Midbrain and third ventricle tumours
Astrocytomas, pinealomas or colloid cysts
Sx: behaviour change, pyramidal tract and cerebellar signs; upward gaze defect
Suprasellar gliomas
Sx: visual field defects, optic atrophy, pituitary disorders (growth arrest, hypothyroidism, delayed puberty), diabetes insipidus
Ix: MRI/CT and EEG
Mx: excision if possible, CSF shunting, radiotherapy, chemotherapy
Rheumatic fever criteria?
Rheumatic fever develops following an immunological reaction to recent (2-6 weeks ago) Streptococcus pyogenes infection. Diagnosis is based on evidence of recent streptococcal infection accompanied by:
2 major criteria
1 major with 2 minor criteria
Evidence of recent streptococcal infection ASOT > 200iu/mL history of scarlet fever positive throat swab increase in DNase B titre
Major criteria erythema marginatum Sydenham's chorea polyarthritis carditis (endo-, myo- or peri-) subcutaneous nodules
Minor criteria raised ESR or CRP pyrexia arthralgia (not if arthritis a major criteria) prolonged PR interval
Hereditary haemorrhagic telangiectasia diagnostic criteria?
AKA Osler-weber-Rendu (Aut dom)
IF they have 2/4, possible HHT, 3/4 - definite HHT:
1) Epistaxis - spontaneous/recurrent
2) Telangiectasia - multiple at characteristic sites (lips, oral cavity, fingers, nose)
3) Visceral lesions - GI telangiectasia, pulmonary AVM, hepatic AVM, cerebral AVM, spinal AVM
4) FH - 1st deg relative with HHT
Paediatric DKA protocol
1) Work out daily requirements (100ml/kg for first 10kg, 50ml/kg for subsequent kg)
eg. 20kg child = 1500ml/day
therefore for 48 hrs = 3000ml
Work out level of dehydration based on pH;
Gas pH 7.1 = 5% depleted.
add this onto 2 day to give total
eg. 10% = 3300ml
put this as an infusion over 2 days and add potassium to every bag
Add insulin after 1hr
Migraine Mx
Prophylaxis:
- Encourage regular sleep
- Propanolol and pizotifen (5-HT2a antagonist)
Acute attack:
- Paracetamol/ibuprofen
- If fails, try sumatriptan (5-HT agonist)
- If vomiting, use rectal/nasal routes or IV chlorpromazine
Causes of encephalitis?
Infective: HSV, mumps, VZV, rabies, parvovirus, immunocompromised, influenza, toxoplasmosis, TB, mycoplasma, malaria, dengue, Rickettsia
Non-infective: hypogly, DKA, kernicterus, hepatic encephalopathy , poisoning (lead) , SAH, malignancy, lupus
Meningitis: Infective causes
Neonatal to 3 months GBS (especially in LBW babies, following Prolonged rupture of membranes) E. coli and other Gram -ve organisms Listeria monocytogenes Staph
1 month to 6 years
Neisseria meningitidis
Strep pneumoniae
Haemophilus influenzae
Greater than 6 years
Neisseria meningitidis
Streptococcus pneumoniae
Signs & complications of meningitis
Sx: may be subtle in infants – irritability, abnormal cry, lethargy, difficulty feeding; fever, seizures, apnoea, bulging fontanelle
Signs of sepsis: fever, cold peripheries, limb/joint pain, abnormal skin colour, odd behaviour, rash, DIC, tachycardia, hypotension, tachypnoea, raised WCC
Signs of meningism: present after signs of sepsis; stiff neck, Kernig’s sign (resistance to extending knee with hip flexed), Brudzinski’s sign (hips flex on bending head forward), photophobia, opisthotonus
Ix: LP (if not contraindicated) followed by: FBC, U&Es, blood cultures, urine, nose swabs, stool virology, CXR, fluid balance, TPR & BP hourly
Complications: disseminated sepsis, subdural effusion, hydrocephalus, ataxia, paralysis, deafness (use steroids after), low IQ, epilepsy, brain abscess
Mx meningitis
In community: IM benpen
A - protect airways
B - High flow O2
C - 0.9% saline 20ml/kg bolus if in shock. IF shock beyond 3 boluses, consider intubation + inotropic support (dobutamine/dopamine)
Abx:
Up to 3/12: Ceftriaxone + ampicillin/amoxicillin (listeria cover)
3/12 up : Ceftriaxone 40mg/kg
(aged 50 and up: Ceftriaxone + ampicillin/amoxacillin)
Ix:
–> FBC, CRP, coag, blood cultures, whole blood PCR, blood glucose, blood gas
+ LP if no sign of raised ICP
Partial seizure?
Fits confined to one hemisphere
Complex features eg. decreased consciousness, automatism, fits of pure pleasure
