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