Paeds Flashcards
HUS triad
- Low platelet count (thrombocytopenia)
- consumption of platelets for blood clots - Haemolytic anaemia (normocytic - HHAAA)
- blood clots within the small vessels chop up the red blood cells as they pass by (haemolysis), causing anaemia - Acute kidney injury
- blood flow through the kidney is affected by the clots and damaged red blood cells, leading to acute kidney injury
HUS presentation
Brief gastroenteritis (bloody diarrhoea)
5 days after:
Reduced urine output
Haematuria
Abdominal pain
Lethargy and irritability
Confusion
Hypertension
Bruising
Causes of HUS
Most common cause: toxin produced by E.coli called the shiga toxin
- shigella also produces this toxin and can cause HUS
The use of antibiotics and anti-motility medications such as loperamide to treat the gastroenteritis INCREASE THE RISK of developing HUS
Infective mononucleosis causative organism
Epstein Barr Virus (EBV)
Features of infectious mononucleosis
Fever
Sore throat
Fatigue
Lymphadenopathy
Tonsillar enlargement with white coating
Splenomegaly (and in rare cases splenic rupture)
intensely itchy maculopapular rash in response to AMOXICILLIN or cefalosporins in 99% of patients
Infectious mononucleosis tests
‘Mono spot test’ for heterophile antibodies (produced in response to EBV infection)
- can take up to 6 weeks for these antibodies to be produced
Anti-viral capsid antigen (VCA) antibody test
- IgM antibody: rises early and suggests acute infection
- IgG antibody: persists after the condition and suggests immunity
5 signs of leukaemia
Failure to thrive
Pallor (anaemia)
Neutropenia (infection)
Petechiae + abnormal bleeding/bruising (secondary to thrombocytopenia)
Lymphadenopathy
Hepatosplenomegaly
Main investigations leukaemia
FBC - 1st line
Bone marrow biopsy - diagnostic
Blood film - to look for abnormalities
Leukaemia associated with Down’s syndrome
ALL
4 complications of chemotherapy
- Stunted growth and development in children
- Infertility
- Neurotoxicity
- Tumour lysis syndrome
Explain the pathophysiology of congenital adrenal hyperplasia
- Deficiency of 21-hydroxylase enzyme
- 21-hydroxylase enzyme usually converts progesterone into aldosterone and cortisol = underproduction of aldosterone and cortisol
- unconverted progesterone = converted into testosterone = overproduction of androgens
Why does hypoglycaemia, hyponatraemia and hyperkalaemia occur in CAH
Low cortisol = Hypoglycaemia
Low aldosterone = Hyponatraemia, Hyperkalaemia
Why does skin hyperpigmentation occur in CAH
Anterior pituitary responds to low cortisol by increasing ACTH
By product of ACTH = melanocyte stimulating hormone
Characteristics of CAH in cases presenting later in childhood
Tall for age
Deep voice
Early puberty
Females: absent periods, facial hair
Males: large penis, small testicles
CAH management
Corticosteroids:
Hydrocortisone (CORTISOL replacement)
Fludrocortisone (ALDOSTERONE replacement)
Female patients with virilised genitalia may require corrective surgery
Risk factors for further febrile convulsions
Age of onset < 18 months
Fever < 39
Shorter duration of fever before the seizure
FHx of febrile convulsions
Features of a simple febrile seizure
Generalised tonic clonic seizure
Lasts less than 15 mins
Only occur once during a single febrile illness
management following febrile convulsion
Treat underlying cause (usually viral or bacterial infection)
Reassurance and parental education
Complex - further investigation
Eye muscle controlled by cranial nerve 6 (abducens) and action
Lateral rectus
‘ABDuction’ = “out”
Eye muscles controlled by cranial nerve 3 (oculumotor) and action
Medial rectus - adduction
Superior rectus - elevates + turns medially
Inferior rectus - depresses + turns medially
Inferior oblique - elevates + turns laterally
Eye muscle controlled by cranial nerve 4 (trochlear) and action
Superior oblique
Depresses :( and turns laterally “down” :(
Other than “down and out” in a third nerve palsy, name 2 other presentations (usually indicating a ‘surgical’ cause of compression against the 3rd nerve)
Ptosis (levetor palpebrae superioris is not innervated)
Dilated fixed (non-reactive) pupil (parasympathetic nerves of iris sphincter not innervated)
Name 4 causes of a third nerve (oculomotor) palsy
Microvascular (diabetes, HTN, ischaemia)
Tumour
Cavernous sinus thrombosis
Posterior communicating artery aneurysm
Types of microcytic anaemia
TAILS
Thalassaemia
Anaemia of chronic disease
Iron deficiency anaemia
Lead poisoning
Sideroblastic anaemia
Types of normocytic anaemia (3)
Increased reticulocyte count:
Acute blood loss
Haemolytic anaemia
Decreased reticulocyte count:
Aplastic anaemia
Causes of megaloblastic (impaired DNA synthesis) macrocytic anaemia
B12 deficiency
Folate deficiency
4 causes of normoblastic macrocytic anaemia
Drugs
Alcohol
Hypothyroidism
Liver disease
Causes of anaemia in infancy
Physiological (most common cause)
Anaemia of prematurity
Blood loss
Haemolysis
Twin-twin transfusion (shared placenta)
Test for haemolytic disease of the newborn
Direct coombs test (DCT)
Investigations show increased reticulocytes - 2 differentials
Haemolysis
Blood bloss
Causes of anaemia in older children
Iron deficiency anaemia secondary to dietary insufficiency (most common cause)
Blood loss e.g. menstruation in older girls
Four general symptoms of anaemia
Fatigue
Shortness of breath
Headache
Dizziness
Four general signs of anaemia
Pale skin
Conjunctival pallor
Tachycardia
Increased resp rate
Specific symptoms of iron deficiency anaemia
Pica (dirt cravings)
Hair loss
Specific signs of iron deficiency anaemia
Koilonychia (spoon shaped nails)
Angular chelitis (inflammation around mouth)
Atrophic glossitis (smooth tongue)
Brittle hair and nails
Inheritance pattern sickle cell anaemia
Autosomal recessive
When is sickle cell anaemia screened for (2)
High risk pregnant women are offered testing during pregnancy
Newborn screening heel prick test at 5 days of age
General management of sickle cell anaemia
Antibiotic prophylaxis (penicillin V) - due to splenectomy
Hydroxycarbamide (stimulates production of HbF) - prevents vaso-occlusive complications
Blood transfusion (for severe anaemia)
Bone marrow transplant (curative but high risk)
Avoid NSAIDs in complications of CKD
Name the four sickle cell crises
Vaso-occlusive crisis (> priapism)
Splenic sequestration crisis (> hypovolaemic shock)
Aplastic crisis (+ triggered by parvovirus B19)
Acute chest syndrome (= fever or resp symptoms WITH new infiltrates on CXR)
Factor deficiency in Haemophilia A and Haemophilia B
A = VIII (8)
B = IX (9)
8 is B and it’s the opposite way round
Presentation of haemophilia
Neonatal intracranial haemorrhage, haematomas + cord bleeding
Spontaneous bleeding into joints + muscles = joint damage and deformity, bruising
1st line investigation haemophilia
Clotting screen:
PT
APTT
fibrinogen
Management of haemophilia
IV infusion replacement of clotting factors (prophylactic or in response to bleeding)
In acute settings:
- IV infusion
- Desmopressin (to stimulate VWF)
- Antifibrinolytics e.g. tranexamic acid
APGAR score
Appearance
Pulse
Grimace
Activity
Respiratory
Presentation of biliary atresia (4)
prolonged jaundice (present > 14 days of age)
Dark urine and pale stools
hepatomegaly
splenomegaly
Appetite and abnormal growth
Investigatory blood test for biliary atresia
Serum bilirubin: total bilirubin may be normal with abnormally high conjugated bilirubin
Ebstein’s anomaly definition
congenital heart defect characterised by low insertion of the tricuspid valve resulting in a large atrium and small ventricle
Hirschprung’s disease definition
aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses
Definitive management Hirschsprung’s
surgery to affected segment of the colon (Swenson procedure)
3 bronchiolitis red flag signs
Severe respiratory distress e.g. grunting
Central cyanosis
Apnoea
Thalassaemia definition
Genetic defect in the protein chains of haemoglobin (alpha or beta)
Thalassaemia inheritance pattern
Autosomal recessive
Three key presentations of thalassaemia
Splenomegaly: fragile RBCS break down and collect in the spleen
Pronounced forehead and malar eminences + susceptibility to fractures: bone marrow expands to produce extra RBC to compensate
Diagnostic testing thalassaemia (3) + who is offered screening?
FBC: Microcytic anaemia
Haemoglobin electrophoresis: globin abnormalities
DNA testing: genetic abnormalities
Pregnant women are offered screening
A complication of thalassaemia (and recurrent infusions) + management of the complication
Iron overload
Management:
- serum ferritin monitoring
- limit transfusions
- iron chelation
Management of alpha thalassamia and beta thalassaemia major (4)
Regular blood transfusions
Iron chelation due to iron overload in transfusions
Splenectomy
Bone marrow transplant
Most likely demographic of patient with Kawasaki disease
Under 5 years old
Japanese or Korean
Male
Key complication of Kawasaki disease
Coronary artery aneurysm
Ix = transthoracic echocardiogram
Clinical features of Kawasaki disease
CRASH & BURN
Conjunctivitis (bilateral) 👀
Rash (widespread erythematous maculopapular)📍📍📍
Adenopathy (cervical lymphadenopathy)
Strawberry tongue 🍓
Hands: desquamation (skin peeling) on palms and soles
BURN (Persistent fever: >39c for >5 days 🥵)
Diagnostic criteria: fever for > 5 days PLUS 4 out of 5 of CRASH
Management Kawasaki disease
High dose aspirin (to reduce risk of thrombosis)
AND
IV immunoglobulins (to reduce risk of coronary artery aneurysm)
Close follow up using echocardiograms
Why is aspirin not usually used in the treatment of children?
Risk of Reye’s syndrome (acute increase in pressure within the brain)
Patient age group most likely to get septic arthritis
< 4 years old
Presentation of septic arthritis
Usually a single joint (often knee or hip)
Rapid onset:
- hot, red, swollen, painful joint
- refusing to weight bear
- stiffness and reduced range of motion
- systemic symptoms E.g. fever, lethargy, sepsis
usually results from haematological spread from a bacterial infection
elsewhere in the body, although it can occur following a skin wound such as chickenpox scar
Most common causative bacteria of sepsis arthritis
Staph aureus
Differential diagnosis septic arthritis
Transient sinovitis
Perthes disease
SUFE
Juvenile idiopathic arthritis
Management of septic arthritis
Aspiration: gram staining, crystal microscopy, culture, antibiotic sensitivities,
- joint fluid may be purulent
Empirical Abx given until microbial sensitivities known (Abx given 3-6 wks)
Severe cases = surgical drainage + washout
Bimodal age distribution in Hodgkin’s lymphoma
20 + 75
Risk factors for Hodgkin’s lymphoma
HIV
EBV
Autoimmune conditions (RA/sarcoidosis)
FHx
Describe the lymphadenopathy seen in Hodgkin’s (key presentation)
Cervical / Axilla / Inguinal
Non tender + “rubbery”
Pain when drinking alcohol
Hodgkin’s B symptoms
Unexplained Fever
Unexplained Weight loss
Drenching Night sweats
‘B’ symptoms = associated with B-cell abnormalities
Investigations Hodgkin’s lymphoma
Lactate dehydrogenase (LDH) = raised but not specific
Lymph node biopsy = diagnostic
- Reed Sternberg cells
CT/MRI/PET = diagnosing + staging
Ann Arbor staging
S1: one region of lymph nodes
S2: more than one region but same side of diaphragm
S3: above + below
S4: non-lymphatic (lungs/liver etc)
Management of Hodgkin’s lymphoma and risks of management options
Chemo: risk of leukaemia + infertility
Radiotherapy: risk of cancer, damage to tissues + hypothyroidism
Name 3 Non-Hodgkin lymphomas
Burkitt lymphoma
MALT lymphoma
Diffuse large B cell lymphoma
Non-Hodgkin management options
Watchful waiting
Chemo
Monoclonal antibodies E.g. rituximab
Radiotherapy
Stem cell transplant
Perthe’s disease definition
Avascular necrosis of the femoral head
It is idiopathic
Most common gender / age of onset Perthes disease
Boys aged 5-10
Presentation of Perthes disease
Younger than 10
Slow onset of:
- Pain in the hip or groin
- Limp
- Restricted in hip movements
- Possible referred pain to knee
No history of trauma (SUFE more likely if minor trauma history)
Associated with hyperactivity and short stature
Investigations for Perthes disease
1st line: X Ray (can appear normal)
Other:
- Blood tests (typically normal - useful for DDx)
- Technetium bone scan
- MRI scan
Four conservative management option for a Perthes disease patient who is under 6 years old/less severe disease
Bed rest
Traction
Crutches
Analgesia
Slipped upper femoral epiphysis definition
Head of the femur is displaced (slips) along the growth plate
Typical patient presentation of SUFE
Obese 12 year old boy undergoing growth spurt and may be history of minor trauma that triggers onset
Bilateral (75%)
Investigations for SUFE
1st line: X ray
Other:
- Bloods (typically normal - useful for DDx)
- Technetium bone scan
- CT scan
- MRI scan
Management of SUFE
Surgery to correct position and fix it in place
Surgery: Internal fixation across the growth plate
Developmental dysplasia of the hip definiton
Structural abnormality in the hips caused by abnormal development of the fetal bones during pregnancy - causes instability in the hips and a tendency for dislocation
Risk factors for DDH
Fs
Family history (1st degree)
Female
First born children
Feet first (Birth in breech position from 28 weeks onward)
Fat (high birth weight)
Fluid (oligohydramnios)
+ prematurity
What two tests are done in the NIPE to check for DDH
Barlow test (dislocation of an articulated femoral head / adduction and downward pressure)
Ortoloni test (relocation of a dislocated femoral head / abduction and upward pressure)
Diagnostic investigation of DDH in < 4.5 months
Ultrasound
>4.5 months = X-ray
Management of DDH
Pavlik harness if presentation <6 months (flexed and abducted)
Surgery if >6 months or if harness fails
Associated genetic condition of duodenal atresia
Down’s syndrome
Name 5 causes of intestinal obstruction
Intussusception
Meconium ileus
Hirschsprung’s disease
Oesophageal atresia
Duodenal atresia
X ray sign of duodenal atresia
Double bubble
Name 4 dysmorphic features of Down’s syndrome
Hypotonia
Brachycephaly
Prominent epicanthic folds
Upslanted palpebral fissures
Small ears + round face
Brushfield spots in the iris
Name 5 complications of Down’s syndrome
Learning disability
Visual problems (myopia, cataracts)
Recurrent otitis media
Deafness (eustachian tube abnormality)
Obstructive sleep apnoea
Cardiac defects (1 in 3): ASD, VSD, PDA, Tet of F
brain > eyes > ears > mouth > heart
How is Down’s syndrome primarily screened for
Combined test: ultrasound + maternal blood test
How is Down’s syndrome diagnosed prenatally (2)
Week 9 to 11: chorionic villus sampling
Week 14 to 18: amniocentesis
What is intussusception
The bowel telescopes into itself which thickens the overall size of the bowel and narrows the lumen
This causes a palpable mass + obstruction
Typical presentation of a patient with intussusception
More common in boys and typically 6 months - 2 years
Recent viral upper respiratory tract infection
Pale, lethargic and unwell
Features of intestinal obstruction (vomiting, absolute constipation, abdo distention)
Drawing legs up to abdomen
Redcurrant jelly stool
RUQ palpable mass (sausage shaped)
Key Investigation for intussusception
Ultrasound abdomen: shows ‘target sign’ or ‘doughnut sign’ which confirms diagnosis
Management of intussusception
Therapeutic enema/rectal air insufflation: force the folded bowel out
If therapeutic enema fails or if there is gangrenous bowel or perforation = surgical reduction
4 complications of intussusception
Obstruction
Gangrenous bowel
Perforation
Death
as the obstruction worsens, mesentery is stretched leading to venous obstruction. This then causes strangulation of the bowel, leading to necrosis of the bowel, generalised peritonitis and shock over time
Hirschsprung’s definition
Congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel + rectum
Pathophysiology of Hirschsprung’s
Absence of parasympathetic ganglion cells in the myenteric plexus
What increases the risk of Hirschsprung’s
Family history
Presentation of Hirschsprung’s associated enterocolitis
20% of neonates with Hirschsprung’s get HEC
2-4 weeks after birth
Fever, abdominal distention, diarrhoea with blood + septic features
LIFE THREATENING
Investigation of Hirschsprung’s
Diagnostic: full thickness suction rectal biopsy (shows absence of ganglion cells in mesenteric plexus)
Abdominal X-Ray can be used in addition to diagnose intestinal obstruction + HAEC: dilated loops of bowel with fluid levels
Definitive management of Hirschsprung’s
Surgical removal of the aganglionic section of bowel
How does NEC lead to death
Death of bowel tissue > perforation > peritonitis > shock > death
Presentation of NEC
first 2 weeks of life in neonates
Intolerance to feeds
Vomiting (milk from feeding particularly w/ green bile)
Distended, tender abdomen
Visible intestine loops lacking peristalsis
Absent bowel sounds
Blood in stools
Generally unwell/lethargic
Initial Investigations NEC
Bloods:
- FBC (thrombocytopenia + neutropenia)
- CRP
- capillary blood gas (to determine metabolic acidosis)
- blood culture (sepsis)
Diagnostic investigation NEC
Abdominal X-Ray
- dilated loops of bowel
- bowel wall oedema (thickened)
- pneumatosis intestinalis (intramural gas) = pathognomonic
Management of NEC
Suspected NEC: Nil by mouth with IV fluids, TPN + broad spectrum antibiotics to stabilise
- a nasogastric tube can be inserted to drain fluid + gas from the stomach intestines
SURGICAL EMERGENCY 🚨
May be left with a temporary stoma if significant bowel is removed
Risk: short bowel syndrome
Where is unconjugated bilirubin found
RBCs
Where is unconjugated bilirubin conjugated
Liver
How is conjugated bilirubin excreted
- Via the biliary system into the GI tract / stool
- urine
Common presentation of Hirschsprung’s in neonates
Failure or delay in passing meconium within 48 hours
Vaccines: 2 months
6 in 1 (1st)
Rotavirus (1st)
Men B (1st)
Vaccines: 3 months
6 in 1 (2nd)
Rotavirus (2nd)
Pneumococcal
Vaccines: 4 months
6 in 1 (3rd)
Men B (2nd)
Vaccines: 1 year
Pneumococcal (2nd)
Men B (3rd)
Hib/Men C (1st)
MMR (1st)
Vaccines: 3 years + 4 months
MMR (2nd)
4 in 1 pre-school booster
Inheritance pattern of Haemophilia
X-linked recessive disorder = only boys develop it and can only get it from their mother’s being carriers
von Willebrand = Women too
commonest lymphoma in childhood
non-Hodgkin
Hodgkin more common in adolescence
Most important differential diagnoses of limp in children 1-3 years
developmental dysplasia of the hip
septic arthritis
transient synovitis
trauma
leukaemia
Most important differential diagnoses of limp in children 11-16 years (3)
slipped upper femoral epiphysis (SUFE)
reactive arthritis
mechanical/overuse injuries (sports related)
3 causes of bilious vomiting in neonates
bilious vomiting = intestinal obstruction
Duodenal atresia
Meconium ileus
NEC
Meconium ileus presentation
Thick and sticky stool that causes obstruction
Typically presents 24-48 hours after birth with bilious vomiting and abdo distention
Associated with cystic fibrosis
Hirschprung’s disease associations (2)
3 times more common in males
Down’s syndrome
DKA triad
Hyperglycaemia i.e. blood glucose > 11mmol/l
Ketonaemia i.e. blood ketones > 3 mmol/l
Acidosis i.e. pH < 7.3
DKA key signs and symptoms
Fruity-smelling breath (due to presence of acetone)
Vomiting
Dehydration (due to glucose taking fluid out in urine)
Abdominal pain
Kussmaul respiration
Altered mental status (drowsiness/coma)
signs of DM e.g. weight changes, polyuria, polydipsia before DKA starts
DKA investigations
Blood glucose >11.1
Blood ketones >3
Urinary glucose + ketones
Bicarbonate < 15
Blood gas analysis (pH < 7.3)
Blood cultures (if infection is suspected)
U&Es (high potassium due to acidosis/lack of insulin)
Creatinine (mildly raised in dehydration)
Management of DKA: alert patient, not significantly dehydrated and can tolerate oral intake w/o vomiting
Encourage oral intake of fluids
Administer subcutaneous insulin
Major complication of treating DKA
Cerebral oedema caused by rapid correction of dehydration with IV fluids
Common precipitating factors causing DKA
Untreated type 1 diabetes
Infection
Dehydration
Myocardial infarction
Fasting
Management of DKA: patient is vomiting, confused, or significantly dehydrated
IV fluids (initial bolus of 10ml/kg 0.9% NaCl)
1 hour after starting IV fluids: Insulin infusion (0.1 units/kg/hour)
Once blood glucose falls below 14mmol/l: IV 10% dextrose at 125 mls/hour
correct dehydration evenly over 48 hours to reduce risk of cerebral oedema
monitor and correct hypokalaemia + cardiac signs after insulin administration
Does regular insulin treatment continue in the management of DKA
Long acting insulin should be continued
Short acting insulin should be stopped
DKA pathophysiology
uncontrolled lipolysis which results in an excess of free fatty acids that are ultimately converted to ketone bodies
DKA resolution defined values
pH > 7.3
Blood ketones < 0.6
Bicarbonate > 15
How soon should DKA be resolved
within 24 hours or a senior review is needed from an endocrinologist
Does insulin transport potassium into or out of cells
Into cells
pathognomonic sign for measles
Koplik spots on oral mucosal membranes
measles features
incubation period: 10-14 days
prodrome: irritable, conjunctivitis, fever
2 days after fever: koplik spots
3-15 days after fever: rash starts behind ears and spreads downwards
management of measles
self-resolving after 7-10 days of symptoms
children should be isolated until 4 days after symptoms resolve
most common complication of measles infection
Otitis media
most common cause of death in measles infection
pneumonia
4 complications of measles infection
otitis media
pneumonia
encephalitis (1-2 weeks after)
subacute sclerosing panencephalitis (5-10 years after)
1st investigation for suspected measles
measles-specific IgM and IgG serology
scarlet fever associated bacterial infection
group A streptococcus (streptococcus pyogenes)
usually tonsilitis
scarlet fever features
red-pink, blotchy, rough sandpaper rash that starts on the trunk and spreads outwards
strawberry tongue
lymphadenopathy
sore throat
fever
management of scarlet fever/strep throat
phenoxymethylpenicillin (penicillin V) for 10 days
children should be kept off school until 24 hours after starting antibiotics
2 complications of scarlet fever
otitis media
post-streptococcal glomerulonephritis (typically 10 days after infection)
acute rheumatic fever (typically 20 days after infection)
rubella 2 key features
rash lasting 3 days
lymphadenopathy behind the ears and back of the neck
management of rubella
supportive/self-limiting
children should stay off school for at least 5 days after the rash appears
congenital rubella syndrome triad
deafness, blindness, congenital heart disease
parvovirus b19 presentation
prodrome (mild fever, coryzal)
rash appears 2-5 days after symptoms begin: diffuse bright red rash on both cheeks and a few days later a reticular rash on trunk and limbs
when is parvovirus b19 infectious
until the rash appears
3 groups at risk of complications from parvovirus b19
immunocompromised
pregnant women
sickle cell anaemia (cause of aplastic crisis)
roseola infantum causative virus
human herpes virus 6
roseola infantum presentation
Most common in children 6 months - 2 years
high fever that comes on suddenly, lasts for 3-5 days then suddenly disappears
followed by mild non-itchy maculopapular lace-like rash on the trunk for 1-2 days
roseola infantum key complication
febrile convulsions due to high temperature
1st feature of chickenpox infection
pyrexia
stages of chickenpox lesions
papules > vesicles > pustules > crusts
Henoch-schoenlein purpura (HSP) patho
IgA mediated small vessel vasculitis
4 features of HSP
Palpable purpuric rash (with localised oedema) over buttocks and extensor surfaces of arms and legs
Joint pain
Abdominal pain
Renal involvement
Turner syndrome chromosomal abnormality
Female with single X chromosome (45 XO)
presentation of Turner’s syndrome (4)
Short stature
Primary amenorrhoea
Widely spaced nipples
Webbed neck
+ Infertility later in life due to underdeveloped ovaries
sign of Turner’s syndrome in neonates
lymphoedema
which hormones are elevated in Turner’s (1)
Gonadotrophins (LH and FSH)
(Caused by low levels of osteogen = negative feedback)
Hypo or hyper thyroidism in Turner’s
Hypothyroidism
Most common cardiac defect seen in Turner’s
Bicuspid aortic valve (15%) = ejection systolic murmur
Turner’s is also associated with coarctation of the aorta but it is not as common
Major long-term health complication in Turner’s syndrome
Aortic dilation and dissection
Rocker bottom feet sign (2 disorders)
Soles of the feet are convex
Patau syndrome (trisomy 13)
Edwards syndrome (trisomy 18)
Patau’s syndrome presentation
Holoprosencephaly (failure of the cerebral hemispheres to divide)
Microcephaly
Cleft lip and palate
Polydactyly (extra digits)
Congenital heart disease
Edward’s syndrome presentation
Low-set ears
Macrognathia (undersized jaw)
Microcephaly
Overlapping 4th and 5th fingers
Rocked bottomed feet
Congenital heart disease
Klinefelter’s syndrome karyotype
47, XXY
Klinefelter’s syndrome characteristics
often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia
elevated gonadotrophin levels but low testosterone
Rash for > 5 days non-infective differentials
Kawasaki disease
Still’s disease
Rheumatic fever
Leukaemia
Juvenile idiopathic arthritis
Chronic autoimmune disease that causes arthritis < 16 years old for > 6 weeks
Joint pain, swelling, stiffness
Still’s disease
Systemic onset JIA
Features of systemic onset JIA/Still’s disease
Intermittent febrile episodes
salmon-pink rash
lymphadenopathy
arthritis
uveitis
Reduced appetite and weight loss
Most common subtype of JIA
oligoarticular JIA (4 or less joints affected) accounts for 60% of cases
most frequently occurs in girls under the age of 6 years
Classic associated feature of oligoarticular JIA
chronic anterior uveitis (eye redness, pain, vision loss)
seen in 1/3 of children with JIA
Joints affected in JIA
large joints e.g. knee, ankle, wrist
5 key onset subtypes of JIA
Systemic
polyarticular > 4 joints
oligoarticular < 4 joints
enthesitis related (key complication: anterior uveitis)
juvenile psoriatic (nail pitting, plaques of psoriasis, dactylitis)
Still’s disease investigations
ANA negative
rheumatoid factor negative
Raised inflammatory markers (raised CRP, ESR, platelets, and serum ferritin)
Key complication of Still’s disease
Macrophage activation syndrome (acutely unwell child with DIC, anaemia, thrombocytopenia, bleeding, non-blanching rash)
Key investigation finding: low ESR
Medical management of JIA
NSAIDs e.g. ibuprofen
Steroids (oral, intramuscular, or intra-articular in oligoarthritis)
Disease modifying anti-rheumatic drugs (DMARDs) e.g. methotrexate, hydroxychloroquine
Biologic therapy e.g. anti-TNFa e.g. infliximab
1st line treatment for oligoarticular JIA
intra-articular steroid injection
Stephen-Johnson syndrome
flu-like symptoms followed by a red/purple target-like rash that spreads and forms blisters
triggered by viral infection (mumps, flu, HSV, EBV) or reaction to medicines
4 medications that can cause stephen-johnson syndrome
Penicillin
Lamotrigine
Phenytoin
Allopurinol
Red flags in developmental milestone assessment
Not able to hold an object at 5 months
Not sitting unsupported at 12 months
Not standing independently at 18 months
No words at 18 months
No interest in others at 18 months
Not walking independently at 2 years
Not running at 2.5 years
Four major domains of child development
Gross motor and Fine motor
Language and communication
Cognitive
Personal and social
milestones in gross motor development:
4 months
9 months
12 months
15 months
head downwards
4 months: support their head
7-8 months months: sit unsupported, crawling
12 months: cruising
15 months: walk unaided
milestones in fine motor development:
8 weeks
6 months
9 months
12 months
8 weeks: fixes their eyes on an object
6 months: palmar grasp
9 months: scissor grasp (squashes it between thumb and forefinger)
12 months: pincer grasp (with the tip of the thumb and forefinger)
what age should a baby be able to say single words in context e.g. mama
12 months
at what age should a baby smile responsively
6 weeks
West syndrome
Infantile spasms starting at around 6 months of age (repeated flexion of head/arms/trunk followed by extension of arms)
More common in male infants
Poor prognosis
Juvenile myoclonic epilepsy
Bilateral myoclonic jerks in upper and lower limbs often in the morning/following sleep deprivation
periods of absence
Age of onset: 10-20 years
If left untreated, may progress to generalised tonic-clonic seizures
Lennox-Gastaut syndrome
atypical absences, falls, jerks
90% moderate-severe mental handicap
onset: 1-5 years
Absence seizures management
1st line in men: sodium valproate
Girls: ethosuximide, lamotrigine
Management of general tonic-clonic seizures
1st line: sodium valproate
2nd line: lamotrigine or carbamazepine
Management of focal seizures
remember opposite to general tonic-clonic
1st line (for men and women): carbamezepine or lamotrigine
2nd line: sodium valproate
1st line investigation after 2nd seizure
electroencephalogram (EEG)
categorises epilepsy type and aids diagnosis before deciding which anti-epileptic would be appropriate
when would an MRI be indicated in epilepsy diagnosis
Unclear history/atypical features
1st seizure in child under 2 years
Focal seizures
Hand foot and mouth disease virus
coxsackie A
Wilms’ tumour
Nephroblastoma
One of the most common childhood malignancies
Typically presents under 5 years old (median age 3)
WAGR syndrome
Wilms’ tumour
Aniridia
Genitourinary malformations
mental Retardation
Wilms’ tumour features
unilateral in 95% of cases
Palpable abdominal mass (most common presenting feature)
painless haematuria
flank pain
Unexplained enlarged abdo mass in a child = arrange paediatric review within 48 hours
Fragile X syndrome features
MALES are always affected (X-linked)
learning difficulties
large ears, long thin face, high-arched palate
macrocephaly
macroorchidism
autism
ADHD
hypotonia
mitral valve prolapse
Prader-Willi syndrome
hypotonia
faltering growth
developmental delay
learning difficulties
facies: almond shaped eyes, narrow bridge of nose, narrowing of forehead at temples, thin upper lip
Noonan syndrome
mild learning difficulties
short webbed neck
pectus excavatum (ribs + sternum grow inwards)
pulmonary stenosis
short stature
congenital heart disease
facies: broad forehead, drooping eyelids, wide distance between eyes
Williams syndrome
short stature
congenital heart disease (supravalvular aortic stenosis)
mild-moderate learning difficulties
facies: broad forehead, short nose, full cheeks, wide mouth
Kallman syndrome
genetic condition causing delayed puberty secondary to hypogonadotropic hypogonadism
Kallman syndrome features
‘delayed puberty’
hypogonadism, cryptorchidism
anosmia
sex hormone levels are low
LH, FSH levels are inappropriately low/normal
Hypogonadotropic Hypogonadism
deficiency of LH and FSH (hypogonadotropic)
leads to a deficiency of the sex hormones testosterone and oestrogen (hypogonadism)
Hypergonadotropic Hypogonadism
gonads fail to respond to stimulation from the gonadotrophins (LH and FSH) (hypogonadism)
no negative feedback from the sex hormones (testosterone and oestrogen), therefore the anterior pituitary produces increasing amounts of LH and FSH (hypergonadtropic)
2 chromosomal abnormalities that cause hypergonadotropic hypogonadism
Kleinfelter’s Syndrome (XXY)
Turner’s Syndrome (XO)
Impetigo rash
small pustules that develop a honey-coloured crusted plaques
usually begins on face
no surrounding erythema
often not itchy
the rash starts as erythematous macules that progress to vesicles, pustules or bullae. rupture of these causes the crusting over plaques
highly contagious, children should stay off school until the lesions have dried out
Status epilepticus management
ABCDE (rule out hypoxia and hypoglycaemia) then benzodiazepine
Benzodiazepine indication:
pre-hospital: buccal midazolam or PR diazepam
IV access: lorazepam (max 2 doses) if still no response IV phenytoin
Status epilepticus definition
a single seizure lasting >5 minutes
or
>2 seizures within a 5-minute period without the person returning to normal between them
Nephrotic syndrome triad
Proteinuria (> 3g / 24 hr)
causing
Hypoalbuminaemia
and
Oedema
complications of nephrotic syndrome (6)
Hypercoagulable state (increased risk of VTE): Prophylactic LMWH required - due to loss of antithrombin-III
Hyperlipidaemia (increased risk of ACS, stroke)
Hypovolaemia (during initial phase of oedema formation)
Hypocalcaemia (vit D and binding protein lost in urine)
Chronic kidney disease
Infection (due to urinary immunoglobulin loss)
which condition causes 80% of nephrotic syndrome cases in children
Minimal change glomerulonephritis
Treatment nephrotic syndrome
High dose oral corticosteroids e.g. prednisolone
how many cases of nephrotic syndrome will have frequent relapses
1/3
pathophysiology minimal change disease
foot process effacement causes proteins to pass through the glomerular membrane
SUFE presenting features (3)
Hip, groin, thigh or knee pain
Restricted range of hip movement (particularly internal rotation in flexion)
Painful limp
commonest cause of vomiting in infancy
GORD (can be physiological)
Risk factors for GORD in infancy
Preterm delivery
Neurological disorders e.g. cerebral palsy
Down syndrome
Features of GORD in infancy
typically develops before 8 weeks
vomiting/regurgitation (milky vomits after feeds, after being laid flat)
excessive crying esp. while feeding
Aspiration/hoarseness/wheezing
complications of GORD in children
distress
failure to thrive
Iron deficiency anaemia
Oesophagitis
recurrent pulmonary aspiration
frequent otitis media
in older children dental erosion may occur
Sandifer syndrome (unusual movements)
1st line treatment for GORD in infancy
1st for Breast- fed baby: Gaviscon (alginate therapy)
1st for Bottle-fed baby: Feed thickener e.g. Carobel
When should a PPI be used to treat GORD in infancy
where the child doesn’t respond to alginates/thickened feeds and:
-
unexplained feeding difficulties (for example, refusing feeds, gagging or choking)
Or -
distressed behaviour
Or - faltering growth
Scoring system for likelihood of strep throat
FeverPAIN
Fever in past 24 hours
Purulent tonsils
Attend rapidly (under 3 days)
Inflamed tonsils
No cough or coyza
Common causes of bacterial otitis media
Streptococcus pneumonaie
Haemophilus influenzae
Moraxella catarrhalis
Streptococcus pyogenes
Features of otitis media
Otalgia (tug or rubbing ear)
fever (50%)
hearing loss
recent viral URTI symptoms are common
ear discharge (if tympanic membrane perforates)
Otoscopy findings in otitis media
bulging tympanic membrane → loss of light reflex
opacification or erythema of the tympanic membrane
perforation with purulent otorrhoea
Diagnostic criteria otitis media (3)
- acute onset of symptoms (otalgia or ear tugging)
-
presence of a middle ear effusion (bulging of the tympanic membrane, or
otorrhoea, decreased mobility on pneumatic otoscopy) - inflammation of the tympanic membrane i.e. erythema
Management of otitis media if antibiotics are not indicated
majority of patients do not require an antibiotic prescription
Analgesia
Safety net: seek medical help if symptoms worsen or do not improve after 3 days
Indications for the use of antibiotics in otitis media (5)
- Symptoms lasting more than 4 days or not improving
- Systemically unwell but not requiring admission
- Immunocompromise or high risk of complications secondary to significant heart, lung, kidney, liver, or neuromuscular disease
- Younger than 2 years with bilateral otitis media
- Otitis media with perforation and/or discharge in the canal
1st line antibiotic for otitis media
5-7 day course of amoxicillin
penicillin allergy: erythromycin, clarithromycin
chronic suppurative otitis media (CSOM)
perforation of the tympanic membrane with otorrhoea for >6 weeks
4 complications of otitis media
complications are rare
mastoiditis
meningitis
brain abscess
facial nerve paralysis
presentation of acute mastoiditis
presence of a tender boggy swelling behind the pinna with loss of the post-auricular sulcus & auricular proptosis
presentation of otitis media with effusion/glue ear on otoscopy
grey tympanic membrane
loss of cone of light reflex
visible fluid level behind the tympanic membrane
Naevus flammeus birth mark
Port wine stain
present from birth and grows with infant
Cavernous haemangioma
Strawberry naevus birth mark
often not present at birth but appears in the first month of life
Erythema toxicum
(neonatal urticaria)
common rash appearing at 2-3 days of age, consisting of white pinpoint papules at the centre of an erythematous base, concentrated on the trunk
Mongolian blue spots
blue/black macular discolouration at the base of the spine and on the buttocks
these can be misdiagnosed as bruises
Management of constipation in children (disimpaction regimen)
1st line: Movicol Paediatric Plain (Macrogol laxative e.g. polyethylene glycol + electrolytes)
If a macrogol laxative is not tolerated: osmotic laxative e.g. lactulose
2nd line (if no improvement after 2 weeks): stimulant laxative e.g. senna can be added
ensure adequate fluid + fibre intake