PAEDS - haem, oncology, MSK Flashcards
what is the most common form of malignancy in children?
acute lymphoblastic leukaemia
what is the most common of child leukaemias?
ALL
what genetic disorder is associated with childhood leukaemias?
down’s syndrome
define acute lymphoblastic leukaemia (ALL). what are lymphocytes?
a malignant disorder of the bone marrow - malignancy of lymphoblast cells (precursor for lymphocytes)
lymphocytes are WBCs e.g. T cells, B cells
RFs for ALL (5)
- radiation
- genetics
- DS
- previous chemo
- immunodeficiency
brief pathophysiology of ALL
- pause in maturation of lymphocytes (B and T cells)
- uncontrolled proliferation of lymphoblasts within the bone marrow
- other cells in bone marrow are crowded out»_space; cytopenia
B symptoms of ALL
- weight loss
- appetite loss
- night sweats
- fever
signs and symptoms of ALL
a) key
b) other
a) anaemia > fatigue, pallor
neutropenia > frequent infections
thrombocytopenia > easy bruising, bleeding, petechiae
b) lymphadenopathy
hepatosplenomegaly
bone/joint pain
headache
investigations for ALL (5)
- FBC
- blood film
- BM biopsy
- lumbar puncture (check for CNS involvement)
- CXR and CT (check for abdo involvement)
a) what key triad will be found on a FBC in ALL?
b) what will be found on blood film?
c) what will be found on BM biopsy?
a) anaemia (low RBC), thrombocytopenia (low platelets) and neutropenia (low WCC)
b) lymphoid blast cells (lymphoblasts)
c) increased cellularity
management of ALL (3)
- 5 phases of chemotherapy given intravasc/oral/intrathecal (CSF) e.g. methotrexate
- supportive care with blood products e.g. red cells, platelets
- prophylactic anti-fungal therapy e.g. oral triazole
what management option is available for ALL for high risk patients in 1st remission/relapse patients?
haemopoietic stem cell transplantation (HSCT)
poor prognostic factors for children with ALL (5)
- age <2 or >10
- WBC >20 x 10*9
- T or B cell surface markers
- non-Caucasian
- male
what are the 3 types of brain tumours in childhood? where are they commonly found?
- astrocytoma (most common) - tumour of astrocyte cells, commonly near brainstem/optic chiasm
- medulloblastoma - tumour of the primitive neuroectodermal cells
- brainstem/pontine glioma - arising in brainstem, commonly pons or thalamus
what is the most common malignant brain tumour in children?
medulloblastoma
which of the following is usually malignant, and which is usually benign?
a) medulloblastoma
b) astrocytoma
a) normally malignant
b) normally benign
are brain tumours in children nearly always primary or secondary?
primary (unlike adults)
RFs for primary brain tumours in children (5)
- personal/fam hx of brain tumour/leukaemia/sarcoma/BC
- prior CNS irradiation
- neurofibromatosis
- tuberous sclerosis
- other familial genetic syndromes
signs and symptoms of a paediatric brain tumour
may be part of a broader picture of delayed milestones, neurodevelopmental delay etc..
- headache - often worse lying down, coughing, sneezing
- nausea/vomiting - esp early morning
- personality/behaviour change
- polyuria/polydipsia (tumours can stop ADH production)
- seizures
what may be seen on clinical examination of a child with a brain tumour? (visual, motor, growth)
- visual - diplopia, reduced visual acuity/fields, abnormal eye movements
- motor - abnormal gait/coordination, swallowing difficulties, weakness
- delayed growth, delayed/arrest or precocious puberty
signs of a brain tumour in infants (4)
- lethargy
- developmental delay/regression
- increase in head circumference/bulging fontanelles
- seizures
ddx for a brain tumour in children (5)
- migraine
- meningitis/encephalitis
- intracranial haemorrhage
- otitis media
- neurofibromatosis
investigations for childhood brain tumour (2)
- MRI
- lumbar puncture
surgical management options for brain tumours in children (2)
- surgical resection
- CSF shunts if hydrocephalus
non-surgical options for childhood brain tumours
- radiotherapy
- chemotherapy (when cannot be completely removed in surgery)
- proton therapy
- stem cell transplants
complications of radiotherapy in the tx of brain tumours in children
- short term memory problems
- learning difficulties
- puberty growth probs
- endocrine probs
what is a neuroblastoma?
a paediatric tumour derived from neural crest tissue, typically arising in the adrenal medulla or abdominal sympathetic chain
when is neuroblastoma most common?
<5 years old
at presentation, most children with a neuroblastoma will have what?
an abdominal mass
other features of neuroblastoma
- pallor
- weight loss
- bone pain/limp
- hepatomegaly
- lymphadenopathy
- ‘blueberry muffin’ rash
- eye bruising/racoon eyes
- proptosis
investigations for a neuroblastoma
a) initial
b) 1st line imaging
c) further imaging choice
a) initial = urine test - raised homovanillic acid (HVA) and vanillylmandelic acid (VMA)
b) 1st line imaging = USS abdomen
c) MRI
gold standard investigation for a neuroblastoma
MIBG scan - radioactive isotope of iodine is injected, two scans taken 24h apart. iodine will stay in tumour > intensely dark region
two UK staging systems used for neuroblastomas
Neuroblastoma Risk Group INGR Staging
International Neuroblastoma Staging System
ddx for neuroblastoma
- PKD
- pyloric stenosis
- hepato/splenomegaly
- neoplasia e.g. Wilms’ tumour, lymphoma, hepatoblastoma
management for a neuroblastoma:
a) children <18 months
b) older children/aggressive disease (stage L1 and L2)
a) conservative - there’s a chance the tumour can spontaneously regress
b) surgery (if L1, curative. if L2, adjuvant chemo/radio)
RFs for a neuroblastoma (3)
- Hirchsprung’s disease
- congenital central hypoventilation syndrome
- noonan’s
what is Wilms’ tumour?
a nephroblastoma (kidney cancer)
the most common type of kidney cancer in children
which age children are most commonly diagnosed with a Wilms’ tumour?
<5
what gene mutation may Wilms’ tumour be associated with? on which chromosome?
WT1 gene on chromosome 11
what is WAGR?
a genetic overgrowth syndrome encompassing Wilms tumour, Aniridia (no iris), Genitourinary malformations and Retardation
other than WAGR, list two other genetic syndromes that Wilms’ tumour is associated with
- denys-drash
- Beckwith-Wiedemann syndrome
presentation of a Wilms’ tumour
- ABDO MASS
- painless haematuria
- flank pain
- anorexia, fever
most commonly unilateral sx
where does Wilms’ tumour commonly metastasise to in 20% of patients?
the lung
management for children with an unexplained enlarged abdominal mass
arrange paeds review within 48 hours
investigations for Wilms’ tumour - initial, 1st line and diagnostic
initial = bloods (FBC,U&Es) and urine dip (haematuria)
1st line = abdo USS
GS = biopsy
CT/MRI are used for more details and staging
ddx for Wilms’ tumour (3)
- PKD
- hydronephrosis
- neuroblasma
management for Wilms’ tumour:
a) initial
b) if stage 1/2
c) when is chemo indicated
a) supportive, treat co-existing infections, ensure hydration and nutrition
b) surgery alone is satisfactory (nephrectomy)
c) if malignant tissue needs reducing pre-surgery, or tx any malignant areas not treated with surgery
stages of a Wilms’ tumour (5)
- tumour only in kidney, can be completely removed by surgery
- tumour has begun to spread beyond the kidney but can still completely be removed by surgery
- tumour cannot be completely resected as it has spread to neighbouring lymph nodes
- distant metastases (usually lungs)
- bilateral tumours
what is retinoblastoma?
the most common ocular malignancy in children (still rare) arising from the retinal nerves
average age of retinoblastoma diagnosis
18 months old
what are the two types of retinoblastoma? what are they caused by? which is often uni and which is often bilateral?
- hereditary retinoblastoma
- autosomal dominant cause
- loss of function of retinoblastoma tumour suppressor gene (RB1) on chromosome 13
- often BILATERAL - sporadic retinoblastoma
- new mutation in RB1 gene
- often UNILATERAL
RFs for retinoblastoma (3)
- family hx
- known genetic mutation of RB1 gene
- previous retinoblastoma
presentation of a retinoblastoma (4)
- most common = absence of red-reflex, replaced by white pupil (leukocoria)
- squint
- vision problems e.g. loss
- may have bulging/red/painful eye
investigations for retinoblastoma (4)
- fundoscopy - loss of red reflex, white eye reflection
- baseline bloods
- genetic testing for RB1 gene mutation
- gold std = opthalmic USS
ddx of retinoblastoma
- cataracts
- retinopathy of prematurity
- other retinal tumour e.g. astrocytic
- other squint causes e.g. idiopathic, trauma
non-surgical management of retinoblastoma
a) small tumours
b) large/metastatic
a) local therapies e.g. cryotherapy, laser therapy
b) chemo (carboplatin and vincristine)
when is radiotherapy indicated for retinoblastomas?
if medical management is unsuccessful
what is the definitive surgical management for a retinoblastoma? when is it indicated?
surgery - enucleation (removes eye)
when tumour is advanced and vision is already lost
complications of a retinoblastoma (6)
- retinal detachment
- retinal necrosis
- optic nerve invasion
- blindness
- cataracts
- subsequent malignant neoplasm
when would it be necessary to admit a child for same day assessment if they are presenting with hip pain?
if they have concurrent fever (need to rule out septic joint)
what is osteogenesis imperfecta? what are its 3 key characteristics?
a group of genetic disorders of collagen metabolism resulting in brittle bones that are prone to fractures. characterised by 1) skeletal deformity and 2) bone fragility 3) blue sclera
ps i love u sexy!
which type of osteogenesis imperfecta is most common and milder?
type 1 OI
what causes osteogenesis imperfecta type 1?
genetic abnormality in type 1 collagen
how is osteogenesis imperfecta inherited?
autosomal dominant
risk factor for osteogenesis imperfecta
family hx
when does osteogenesis imperfecta typically present?
present at birth, detected in early life
presentation of osteogenesis imperfecta
- recurrent, inappropriate fractures
- blue/grey sclera
- hypermobility
- deafness
- dental problems
- bone deformities e.g. bowed legs/scoliosis
- joint/bone pain
how is osteogenesis imperfecta diagnosed? what investigations can be done to support the diagnosis?
normally clinical
x-rays - for fractures/bone deformities, reduced density
DEXA scan - if child >5 and >10kg
genetic testing (not done routinely)
ddx for osteogenesis imperfecta
NAI
medical management of osteogenesis imperfecta
- bisphosphonates (increase bone density)
- vitamin D supplements (prevent deficiency)
non-pharm management of OI
MDT - physios, OTs, paediatricians, surgeons etc
complications of OI (3)
- fractures
- hearing loss
- resp infection e.g. pneumonia
what is OI also known as?
brittle bone disease
what is rickets?
childhood version of osteomalacia - defective bone mineralisation causing “soft” and deformed bones
what most commonly causes rickets? what is a rare cause?
most commonly = deficiency in vitamin D or calcium
rare form is caused by a genetic defect resulting in low serum phosphate (hereditary hypophosphatemic rickets)
when are the two peak incidences of rickets?
6-23 months and 12-15 years
risk factors for rickets (4)
- reduced sun exposure - darker skin, colder climates, spending time indoors
- malabsorption disorders e.g. IBD
- CKD
- family history
how is vitamin D linked to calcium and phosphate?
low vitamin D = body cannot properly absorb calcium and phosphate
pathophysiology of rickets
- inadequate vitamin D leads to lack of calcium and phosphate absorption from GI and kidneys
- calcium and phosphate are required for bone construction > defective mineralisation
- low calcium causes secondary hyperparathyroidism (parathyroid is trying to raise Ca by secreting PTH)
- PTH stimulates increased reabsorption of calcium from bones»_space; further problems with mineralisation
signs and symptoms of rickets
some are asymptomatic!
- lethargy
- bone pain
- swollen wrists
- bone deformities
- poor growth
- dental probs
- muscle weakness
- pathological/abnormal fractures
name some bone deformities that can occur in rickets (5)
- leg bowing (legs curve out)
- knock knees (legs curve in)
- rachitic rosary (ends of rib expand, causing chest lumps)
- craniotabes (soft skull with delayed suture closure)
- delayed teeth growth
1st line investigations for rickets
BLOODS
- serum 25-hydroxyvitamin D (low, <25)
- serum calcium (low)
- serum phosphate (low)
- serum PTH (high)
gold std investigation for rickets
x-ray - will show osteopenia (radiolucent bones)
what blood tests can be done to rule out other pathology in rickets?
- FBC & ferritin - Fe deficiency anaemia
- ESR & CRP - inflammatory condition
- LFTs/U&Es/TFTs - kidney, liver or thyroid probs
- malabsorption screen e.g. anti-TTG antibodies
ddx for rickets (2)
- osteogenesis imperfecta
- hypophosphatasia
how can rickets be managed preventatively?
give breastfed babies vit D supplement
management of:
a) vit D deficiency
b) rickets
a) ergocalciferol
b) vitamin D AND calcium supplements. refer to paediatrician.
what is transient synovitis?
AKA ‘irritable hip’ - a self-limiting condition caused by temporary inflammation of the synovial membrane of the hip joint
what is the most common cause of ACUTE hip pain in children?
transient synovitis
what age children are typically affected by transient synovitis? which gender is more affected?
3-10 years
boys
aetiology of transient synovitis
- unknown
- but commonly occurs following a recent viral URTI so could be inflammatory reaction to that
brief pathophysiology of transient synovitis
- non-specific inflammation and too much fluid in the hip joint
- causes hypertrophy of synovium (connective tissue that lines the inside of the joint capsule)
signs and symptoms of transient synovitis
often within a few weeks of viral illness… sudden onset
- limp
- refusal to weight bear
- groin/hip pain
- MILD low-grade temp
what should children with transient synovitis NOT present with? what should otherwise be considered in this case?
should NOT have a fever, apart from hip probs should be otherwise well.
if joint pain + fever, consider septic arthritis
investigations for transient synovitis (3)
diagnosis of EXCLUSION…
1. bloods
FBC - WCC normal/mildly elevated
ESR - may be slightly elevated
CRP - may be slightly elevated
- x-ray (AP, lateral or frog leg) - normal
- USS - rule out SA
ddx for transient arthritis (3)
- septic arthritis
- osteomyelitis
- juvenile idiopathic arthritis
management of transient synovitis
self-limiting, often lasts 7-10 days…
- bed rest
- activity restriction
- paracetamol and NSAIDs
FU at 48h and 1 week to ensure improving
what is septic arthritis?
infection and inflammation of one or more joints by a pathogenic infectious agent
what are the 3 causes of transmission of bacteria in septic arthritis? which is most common?
- haematogenous (blood) spread - most common, from distance abscesses/wounds/resp infections/STIs
- direct inoculation - joint injections, arthrocentesis, surgery, trauma, foreign objects, puncture wound
- contiguous spread - from adjacent infection e.g. osteomyelitis, septic bursitis
what is the most common causative organism of septic arthritis beyond the neonatal period? what about in unvaccinated children?
staph aureus
in unvaccinated - H.influenzae
what septic arthritis organism should be suspected in sexually active teens?
Neisseria Gonorrhoea
RFs for septic arthritis (5)
- underlying joint disease
- osteomyelitis
- immunosuppression
- not vaccinated for Hib
- prosthetic joint
which joint is often affected in children?
hip or knee
presentation of septic arthritis
- one joint - usually hip/knee
- erythematous, warm, acutely tender joint
- reduced ROM
- unable to weight bear
- infants hold limb still and cry if moved
what position do children typically hold their leg with septic arthritis of the hip?
flexed, abducted and externally rotated
Kocher criteria for the diagnosis of septic arthritis (4)
- fever >38.5 C
- non-weight bearing
- raised ESR
- raised WCC
investigations for septic arthritis - what is 1st line?
1st line = joint arthrocentesis - aspirate synovial fluid (if hip, under USS guidance)
- bloods - high WCC, raised ESR/CRP
- blood cultures - +ve
synovial fluid analysis findings in septic arthritis (3)
- yellow/green appearance
- raised WCC
- +ve culture showing bacteria
ddx for septic arthritis (5)
- gout
- osteomyelitis
- transient synovitis
- juvenile idiopathic arthritis
- trauma
immediate management of septic arthritis
urgent joint aspiration to dryness
empirical abx e.g. IV flucloxacillin - 2 weeks then oral for 4 weeks
further management for septic arthritis
- may need to surgically drain joint if severe
- immobilisation of joint
- sepsis 6 if systemic
complications of septic arthritis (3)
- joint destruction
- osteomyelitis
- sepsis
what is osteomyelitis? where does it typically occur?
an infection of the bone and bone marrow, typically occurring in the metaphysis of long bones
what is acute vs chronic osteomyelitis?
acute - more quick, acutely unwell child
chronic - deep seated, slow growing infection with slowly developing sx
who is osteomyelitis more common in?
boys, under 10 years
most common causative organism of osteomyelitis
s.aureus
common causative organism of osteomyelitis in children with sickle cell disease?
salmonella spp
how is osteomyelitis spread most commonly in children?
haematogenous (in adults, contiguous more common)
RFs for osteomyelitis (haematogenous) in children (5)
- sickle cell anaemia
- IV drugs
- immunosuppression e.g. HIV
- infective endocarditis
- recent infection e.g. upper resp
signs and symptoms of osteomyelitis
- acute febrile illness (may be mild fever)
- v painful, immobile limb (pseudoparesis - passive movement possible but active not)
- swollen, tender, erythematous, warm joint
investigations for osteomyelitis
a) 1st line
b) 1st line imaging
c) GS imaging
d) other GS
a) bloods (FBC, CRP) and cultures
b) x-ray
c) MRI
d) culture via bone biopsy at debridement
what will show on MRI in osteomyelitis?
- bone marrow oedema
- subperiosteal pus
- puruelent debris in bone
ddx for osteomyelitis (5)
- septic arthritis (not even passive ROM)
- gout
- JIA
- transient synovitis
- fracture
1st line management for acute osteomyelitis
IV abx for 2 weeks - flucloxacillin or clindamycin if penicillin allergic
then oral
when is surgery indicated for osteomyelitis? what type is done?
if…
- not responding to abx
- septic arthritis
- bone destruction
surgical debridement, cultures sent for sensitivities
how would chronic osteomyelitis present? how is it managed?
localised ongoing bone pain, non-specific infectious symptoms. may have normal inflamm markers and positive/negative cultures.
surgical debridement, extensive long term abx, staged reconstruction of bone
what is Perthe’s disease?
degenerative condition of the hip joints caused by avascular necrosis of the femoral head (capital femoral epiphysis)
when is Perthe’s disease most common? in which gender?
4-8 years
boys (5x more common)
presentation of Perthe’s disease
- hip pain (develops progressively over few weeks)
- limp
- stiffness and reduced ROM
- may have short stature
what sign may be +ve in Perthe’s disease?
Trendelenburg’s sign
gold standard investigation for Perthe’s disease
bilateral AP pelvic and frog-leg lateral x-ray
what other investigation can be done for Perthe’s disease if the x-ray is normal yet symptoms persist?
technetium bone scan
what will show on x-ray in Perthe’s disease
a) early
b) late
a) widening of joint space
b) decreased femoral head size/flattening
ddx for Perthe’s disease (3)
- transient synovitis (of hip)
- septic arthritis
- juvenile idiopathic arthritis
management of Perthe’s disease if less severe/child is <6
observe and supportive - bed rest, traction, crutches, physio, analgesia
when is surgery indicated for perthe’s disease?
- children >6
- > 50% of femoral head is damaged
- nonsurgical has been unsuccessful
what is the most common childhood primary bone cancer?
osteosarcoma
what age/gender is more commonly affected by osteosarcoma? which ethnicity?
10-20
males
Afro-Caribbean patients in adolescence
where does osteosarcoma commonly occur?
locations of fast bone growth e.g. in limbs, at metaphysis of long bones like the FEMUR and TIBIA
pathophys of osteosarcomas
DNA mutations occur in rapidly dividing osteoblasts e.g. during pubertal growth spurts
3 types of osteosarcoma
- osteoblastic - tumour arises from most highly differentiated cells
- fibroblastic - tumour arises from the least differentiated cells
- chondroplastic - tumour arises from somewhere in between
risk factors for osteosarcoma
- puberty growth spurts
- taller individuals
- genetic conditions predisposing e.g. RB1 mutation, Li-Fraumeni, Bloom syndrome
presentation of osteosarcoma - what is a specific red flag sign?
PAIN
- intermittent, resistant to analgesia
- worsens at night (red flag)
lump - may be seen or felt, warm/tender to touch
mobility issues e.g. limp
non specific e.g. fatigue, weight loss, headache
1st line investigations for osteosarcoma
- bloods - FBC, U&Es, CRP/ESR, bone profile, lactate dehydrogenase
- x-ray
gold std investigation for osteosarcoma
biopsy of affected area (done in specialist sarcoma centre)
what may be seen on x-ray in osteosarcoma?
- bone destruction
- new bone formation
- periosteal swelling/soft tissue swelling
ddx for osteosarcoma
- benign bone tumour
- infection e.g. osteomyelitis
- developmental abnormalities
- trauma
- metabolic disease e.g. rickets
- haem malignancy
management of osteosarcoma
- surgery - removal of whole tumour, may have salvage surgery or amputation
- chemo - to all pts before and after surgery
1st line chemotherapy for osteosarcoma in under 30s
doxorubicin, cisplatin and high-dose methotrexate
what is a hepatoblastoma?
rare cancer that forms in the tissues of the liver
what age children are typically affected by hepatoblastoma?
<3 years old
signs and symptoms of hepatoblastoma
- lump/swelling in abdomen
- pain in abdomen
- weight loss
- loss of appetite
- N&V
- itchy skin
investigations for hepatoblastoma
a) 1st line
b) gold std
c) staging
a) bloods - LFTs and alpha-fetoprotein (AFP) test
b) liver biopsy
c) abdominal CT
ddx for hepatoblastoma
Wilm’s tumour (abdo pain and swelling)
management of hepatoblastoma
- surgery - remove as much tumour as poss (liver can regenerate)
- chemo - before surgery to shrink and after tumour to minimise recurrence
- FU
what is a discoid meniscus?
a congenital anatomical variant in the knee, usually affecting the lateral meniscus
results in HYPERTROPHIC (thicker) and DISCOID (more disc-shaped) shaped meniscus
which ethnic group is a discoid meniscus more common in?
Asian
pathophysiology of discoid meniscus
- decreased collagen fibres
- loss of normal collagen orientation
- predisposed to intradiscal/meniscal mucoid degeneration
signs and symptoms of discoid meniscus
frequently asymptomatic
but discoid meniscus prone to TEARING…
- pain
- locking
- swelling
- a ‘clunk’
how may a discoid meniscus be incidentally found?
MRI examination
investigations for discoid meniscus - which is diagnostic?
- X-ray
- MRI is diagnostic
how will a discoid meniscus present on
a) x-ray
b) MRI
a) widening of lateral joint space, cupping of lateral tibial plateau
b) wide meniscus body width
management of discoid meniscus
conservative
complications of discoid meniscus
- meniscus tear
- early bone degenerative change
what is a slipped upper femoral epiphysis (SUFE)?
displacement of the epiphysis (top bit) of the femoral head
who is SUFE common in? (age, gender etc)
8-15 years, males
most common in obese male adolescents
causes of SUFE
weakness in proximal femoral growth plate caused by…
- stress on growth plate from obesity
- hypothyroidism
- period of rapid growth
- panhypopituitarism
- renal osteodystrophy (metabolic bone disease)
RFs for SUFE
- puberty
- obesity
- endocrine disorders
- male sex
- local trauma
presentation of SUFE
loss of which movement is typical?
may be hx of minor trauma
- bilateral hip pain
- can get groin/knee pain
- gait with affected leg/s externally rotated
- loss of internal rotation of hip
- loss of internal rotation of leg in flexion
- trendelenburg’s gait
- restricted ROM
investigations for SUFE
a) 1st line
b) GS
a) bloods
- FBC normal
- ESR/CRP normal
- metabolic panel (may have renal osteodystrophy)
- TFTs (may have associated hypo)
- serum GH
b) bilateral hip x-rays (frog leg more sensitive)
what x-ray finding will be found in SUFE?
Klein’s line will not intersect femoral head
ddx for SUFE (3)
- hip fracture
- perthe’s
- avascular necrosis
management for SUFE
urgent surgery - internal fixation with screws
complications of SUFE (4)
- late hip deformities (if not caught)
- osteoarthritis
- leg length discrepancy
- avascular necrosis
what is Osgood-Schlatters disease?
an overuse syndrome of the paediatric population - inflammation of the tibial tubercle
who is typically affected by Osgood-Schlatters?
young athletes during adolescent growth spurt
presentation of Osgood-Schlatter disease
- pain at tibial tubercle
- localised swelling/warmth
- if late in disease - prominent tibial tubercle
ddx for osgood-schlatter disease
patellar tendonitis
management for osgood-schlatter disease
- typically self-resolving after period of activity/definitively at skeletal maturity
- 1st line tx = modify activities e.g. abstain from sport, cold packs
- can have NSAIDs/physio if needed
how is thalassemia inherited?
autosomal recessive
what is immune/idiopathic thrombocytopenia? what causes it?
an immune disorder where the blood doesn’t clot properly, due to autoimmune destruction of platelets
what commonly precedes ITP in children?
an infection (normally viral)/vaccination
what kind of sensitivity reaction is ITP an example of?
type II hypersensitivity reaction (autoimmune)
signs and symptoms of ITP in children
acute onset…
1. easy/excess bruising
2. petechial/purpural rash, often on legs
3. bleeding from gums/nose, may be from GI
acute bruising/petechiae rash in an otherwise healthy child who was ill recently is a typical presentation of…
ITP
investigations and results for ITP
- FBC - low platelets (isolated thrombocytopenia)
- peripheral blood smear/film - thrombocytopenia, RBC/WBC normal
when is a BM biopsy for ITP indicated? (3)
only IF atypical features e.g.
- widespread lymphadenopathy
- splenomegaly
- bone pain
common management of ITP in children
what if platelets are severely low (<10x10*9/l)
- normally none needed
- resolves in 80% of children in 6 months
if platelets v low, consider oral/IV corticosteroid, IV immunoglobulins, platelet transfusion
what is thalassemia?
a group of genetic disorders characterised by a reduced production rate of either alpha or beta chains
a disorder of the quantity of Hb
what type of anaemia does thalassemia cause?
microcytic hypochromic
what are the components of normal adult HbA (haem A)
two alpha chains and two beta chains
what is…
a) alpha thalassemia
b) beta thalassemia (two types)
a) deficiency of alpha chains in haemoglobin
b) reduced/absent beta chains
- minor = one abnormal and one normal beta chain
- major = deletion of both beta-globin chains
what is HbA2? what chains is it composed of?
- a normal variant of haemoglobin A
- two alpha and two delta chains
- found in low levels in human blood
how is haemophilia A genetically transmitted?
x-linked recessive
what causes thalassemia?
autosomal recessive gene mutation in either the alpha or beta globin chains making up haemoglobin
RF for thalassemia
family hx
if a child’s mother and father both have thalassemia minor (carriers), what is the chance they will have:
a) thalassemia minor
b) thalassemia major
a) 50% (still carrier)
c) 25%
presentation of beta thalassemia minor/trait
what will be the findings on haemoglobin analysis?
- may be asymptomatic
- mild hypochromic, microcytic anaemia
- HbA2 raised
presentation of thalassemia major.
what will be the findings on haemoglobin analysis?
- presents in first year of life
- failure to thrive
- hepatosplenomegaly
- microcytic anaemia
- may have skeletal deformities e.g. large head, spinal changes, chipmunk facies
- HbA2 and HbF raised
- ABSENT HBA
management of thalassemia major
- repeated blood transfusions
(this leads to iron overload, which is treated with…) - iron chelation
may also need long-term folic acid supplements
presentation of alpha thalassemia if
a) 1/2 alpha globin alleles affected
b) 3 alpha globin alleles affected
c) 4 alpha globin alleles affected
a) mild microcytic anaemia/asymptomatic
b) severe haemolytic anaemia
jaundice
splenomegaly
c) still-born/death in-utero (hydrops fetalis, Bart’s hydrops)
what is Bart’s hydrops?
Hb barts - abnormal haemoglobin consisting of four gamma globins > v high affinity for oxygen so cannot release O2 into tissues
what globin chains make up HbF?
two alpha globins and two gamma globins
what is developmental dysplasia of the hip (DDH)?
a congenital spectrum of disorders ranging from dysplasia (abnormal growth) to subluxation (ball not centred in socket) to dislocation
which gender is more affected by DDH?
females
causes of DDH
unknown - either congenital or acquired e.g. neuromuscular disorder
RFs for DDH (7)
- female sex
- breech
- +ve fam hx
- firsborn
- oligohydramnios
- birth weight >5kg
- congenital calcaneovalgus foot deformity
which infants receive general screening for DDH? when?
ALL infants
as part of neonatal screening
then tested routinely at 8 weeks old up to 3m
which neonates are automatically given an USS for DDH investigation? when?
at 6 weeks
those with…
1. 1st degree fam hx of hip problems in early life
- breech presentation at/after 36w gestation (regardless of mode of delivery)
- multiple pregnancy
what happens in a general DDH screening?
Barlow’s test (attempts to dislocate articulated femoral head)
Ortolani test (attempts to relocate a dislocated femoral head)
when is imaging used for DDH? what type? what if infant is >4.5m?
- when clinically suspected from screening tests (or if meets criteria for high risk)
- USS generally used
- x-ray if infant >4.5m
if a baby is not screened for DDH and presents later in life, what will the signs and symptoms be?
- limp/abnormal gait
- asymmetric skin folds around hip
- limited hip abduction
- shortening of leg
- delayed walking/crawling
- unilateral toe-walking
management of DDH
a) younger than 4-5m
b) >6m
most will spontaneously stabilise by 3-6 weeks of age!!!
if not…
a) Pavlik harness/splint
b) may require surgery
what is juvenile idiopathic arthritis (JIA)?
arthritis (persistent joint swelling) occurring in someone <16 that lasts for more than 6 weeks in the absence of infection or any other defined cause
subtypes of JIA:
a) polyarthritis
b) oligoarthritis
c) systemic onset
d) psoriatic arthritis
e) ethesitis-related
a) >4 joints affected
b) = <4 joints affected
c) with fever and salmon rash
d) with psoriasis
e) with enthesitis
RF for JIA
- female sex
- fhx of autoimmunity
general features of JIA (4)
- stiffness after periods of rest e.g. long car journies
- morning joint stiffness
- pain (intermittent limp, deterioration in behaviour/mood, avoidance of activities)
- joint swelling and inflammation
commonly affected joints in JIA
knee, ankle, wrist, elbow
which deformities are common in longstanding uncontrolled JIA?
- leg lengthening
- valvus deformity (knees bend out)
- discrepancy in digit length
features of systemic onset JIA (5)
general features of JIA PLUS
1. relapsing remitting fever
2. salmon-pink rash at times of fever
3. lymphadenopathy
4. uveitis
5. anorexia and weight loss
investigations and results for JIA
clinical diagnosis but can do…
- bloods
- FBC normal
- ESR/CRP normal or raised
- ANCA may be +ve
- RF -ve (unless aggressive) - x-ray to exclude fracture/trauma
management of polyarticular JIA
1st line = DMARDS e.g. methotrexate
consider NSAIDs and corticosteroids
management of oligoarticular JIA
1st line = intra-articular corticosteroid
consider NSAIDs, methotrexate
management of systemic onset JIA
1st line = NSAIDs e.g. ibuprofen
consider biologic agent e.g. tocilozumab
non-pharm management of JIA
- physio
- OT
- psychology
- regular opthalmogical exams
complications of JIA
- chronic anterior uveitis > visual impairment
- growth failure
- flexion contractures of joints
what is haemolytic disease of the newborn?
haemolytic destruction of a foetus’ RBCs due to incompatibility between Rh presentation in mother and baby
when does haemolytic disease of the newborn present? which babies is it more common in ?
- in foetus at/around birth
- 3x more common in Caucasian babies
aetiology of haemolytic disease of the newborn
- Rh negative mother carrying Rh positive baby
- mum produces antibodies against Rh antigens on foetal RBCs
- breaks them down
RFs for haemolytic disease of the newborn
- hx of rh+ve baby and rh-ve mum
- foetomaternal haemorrhage
- invasive foetal procedures
- placental trauma
- abortion
- multiparity
signs and symptoms of haemolytic disease of the newborn (4)
- oedematous
- severe anaemia
- jaundice
- hepatosplenomegaly
- yellow amniotic fluid (due to bilirubin)
- heart failure
investigations for haemolytic disease of the newborn (4)
- maternal serum Rh antibody SCREEN
- cord blood taken at delivery - FBC, blood group & DCT
- direct coombs test (DCT) - +ve in newborn
- Kleihauer test - add acid to maternal blood, foetal cells are resistant
preventative measures for haemolytic disease of the newborn
IF baby rhesus +ve and mum rhesus -ve
give mum anti-D injections at 28 weeks and delivery (and any potential sensitising event e.g. haemorrhage, abdominal trauma)
treatment of haemolytic disease of the newborn (2)
- intrauterine transfusion with normal human immunoglobulin
- UV phototherapy
what is sickle cell anaemia?
an autosomal recessive disease resulting in an abnormal type of haemoglobin (HbS)
why does sickle cell anaemia affect children immediately from birth?
due to presence of foetal haemoglobin (HbF)
pathophys of sickle cell anaemia
- single point mutation: substitution of valine for glutamic acid in beta chain
- produces HbS
- HbS polymerises when deoxygenated > sickle shaped
- rigid sickle shape can’t get through capillaries > occlusion of microvasc vessels
- chronic organ damage due to lack of blood
- chronic haemolysis > low baseline Hb
when do abnormal HbS molecules take over from HbF - so when would symptoms in sickle cell anaemia begin to show?
4-6 months old
sickle cell screening - when is it offered? what investigation is done?
ANTENATAL - mum offered blood tests
POSTNATAL - newborn screen with heel prick test
(if heel prick positive, need confirmatory testing)
confirmatory testing for sickle cell disease - 1st line and GS
1st line = blood film
GS = haemoglobin electrophoresis (absence of HbA)
results of sickle cell disease on blood film
- nucleated RBCs
- Howell-Jolly bodies
- sickle-shaped RBCs
sickle cell trait vs homozygous sickle cell disease
sickle cell trait = HbAS
homozygous disease = HbSS
which ethnicity is sickle cell disease more common in ?
people of african descent
presentation of sickle cell disease
- acute pain from vaso-occlusion - episodes severely painful, precipitated by hypoxia, infection, strenuous exercise, dehydration or acidosis. Most commonly back, legs, knees, arms, chest and abdo
- dactylitis (1st presentation in a child)
- pallor
- lethargy
- fever
- tachycardia/tachypnoea
prophylactic tx of sickle cell disease (3)
- hydroxycarbamide
- regular blood transfusion - target = maintain HbS <30%
- experimental tx e.g. L-glutamine, crizanlizumab and voxeltor
management of acute pain crisis in sickle cell disease
- analgesia (paracetemol/NSAIDs if mild, stronger opioids for mod-severe)
- adequate fluids
- O2
may need transfusion
complications of sickle cell disease (5)
- iron overload from chronic transfusions
- leg ulcers
- pul HTN
- renal abnormalities
- growth and developmental delay
what is acute chest syndrome?
sickle cell crisis where there’s sickling in the chest > high risk of mortality
what would be seen in sickle cell disease:
a) haemoglobin
b) MCV
c) reticulocytes
a) low
b) normal
c) raised
rare complication of ALL, precipitated by infection, chemo or the leukaemia itself
how would it present?
disseminated intravascular coagulation (DIC)
simultaneous bleeding and thrombosis
thrombocytopenia, prolonged PT and raised D-dimer
clinically - bruising, petechiae, nose bleeds
which clotting factor is deficient in
a) haem A
b) haem B
a) factor VIII
b) factor IX
which gender is affected by haemophilia and why
males - x-linked recessive
presentation of haemophilia
a) mild
b) mod
c) severe
a) bleeding after trauma/surgery
b) bleeding following injury, spontaneous bleeding episodes occasionally
c) hemarthrosis (bleeding into muscles and joints = painful, swollen), excessive bruising and bleeding
presentation of haemophilia in neonates if severe
- intracranial haemorrhage
- haematomas
- cord bleeding
which clotting pathway are factors VIII and IX found, so are implicated in the pathology of haemophilia?
intrinsic pathway
investigations and results for haemophilia
- activated partial thromboplastin time (aPTT) - tests intrinsic pathway, prolonged
- plasma factor VIII/IX assay - deficient
- prothrombin time - tests extrinsic pathway, will be normal
- thrombin time - normal
management for haemophilia
what should pts be advised to avoid?
- IV recombinant factor VIII/IX concentrate - either regularly or in response to bleed
- IV synthetic vasopressin
- avoid contact sport and aspirin
how is von Willebrand’s disease inherited?
autosomal dominant
presentation of von Willebrand’s
how does it differ from haemophilia?
epistaxis, menorrhagia, urine/stool blood, bleeding after injury/surgery
less likely to have haematomas and hemarthroses (unlike haemophilia)
pathophys of the 3 types of von Willebrand’s and how they would present
Type 1:
- partial deficiency of VWF
- bleeding only a problem with surgery/injury
Type 2:
- abnormal form of VWF
- bleeding more frequent and heavier
Type 3:
- complete VWF deficiency
- rare
- bleeding from mouth, nose and gut common
investigations and results for von willebrand disease
- aPPT - prolonged
- factor VIII clotting activity - may be reduced
- ristocetin test - defective platelet aggregation
what is von willebrand factor needed for
- platelet adhesion and aggregation in damaged vessels
- carrier molecule for factor VIII
management of von willebrand
a) in response to injury/trauma or prophylaxis
b) for heavy periods
a)
- desmopressin (stimulates VWF release)
- tranexamic acid
- VWF infusion +/- VIII concentrate
b)
- tranexamic acid
- mirena coil/COCP
- definitive is hysterectomy
what is fanconi anaemia? what does it increase the risk of?
a rare disorder in the category of inherited bone marrow failure syndromes
increased risk of AML
inheritance pattern of fanconi anaemia
autosomal recessive
presentation of fanconi anaemia in early life
- growth deficiency (LBW)
- skeletal abnormalities - no thumb/radius bone, short
- skin pigmentation - dark/light birthmarks
- structural abnormalities of heart, kidney, urinary tract, colon, rectum
- small head/eyes
- small reprod organs in males
presentation of faconi anaemia if not diagnosed in infancy
- fatigue
- frequent infection
- nosebleeds
- easy bruising
1st line and GS investigation for fanconi anaemia
1st line = FBC
GS = chromosomal breakage test
definitive management of fanconi anaemia
BM transplant
