lectures Flashcards
What is the epidemiology of ADHD?
Boys>girls
5% population – v common
What are the RF for ADHD?
Risk factors: premature, fetal alcohol, neurofibroma –> acquired brain injury, Fhx
What is the diagnostic criteria for ADHD?
Must show evidence of behaviours at less than 17 years
Development inappropriate subsequently
Impacts on them socially, academically or occupationally
What are the three domains of ADHD?
Inattention, hyperactivity and impulsivity
What are the symptoms of Inattention?
Disruptive, not performing as well should academically, easily distracted, forgetful in daily activities, does not appear to be listening when spoken to directly, makes careless mistakes and loses things
What are the symptoms of hyperactivity?
Fidgeting, running and climbing excessively, can’t remain still, talking excessively (more common in girls), finger or toe tapping, noisy, on the go, loud
What are the symptoms of impulsivity?
Shout out, push in, accidents, unplanned pregnancy, drug use, interrupting others, difficulty waiting for their turn
What score do you need for ADHD diagnosis?
NEED score of 6/9 for inattentive and 6/9 hyperactive/impulsive
What situations make ADHD typically worse?
typically worsens in unstructured, boring, repetitive, distraction filled, low supervision situations
what Comorbidities does ADHD often overlap with?
Commonly overlaps with over diagnoses eg mental health, ASD, tics, oppositional defiance disorder
what investigation do you do for ADHD?
QB test
What is the Management of ADHD?
Driving counselling
CVS assessment
Education for parents and child
Methylphenidate/ lisdexamefetamine
What are social communication symptoms of ASD?
LEARN LANGUAGE UNUSUALLY; Lack desire to communicate; Stop saying words; Communicate needs only; Echolalia – repeat speech;No eye contact; Over gesture; Pedantic, literal understanding
What are Social interaction symptoms of ASD?
Friendly but odd;Don’t want reciprocal interaction; Don’t understand unspoken social rules; May touch inappropriately, find it hard to take turns and make eye contact; Struggle with new situations due to lack of problem solving; Imagination; Practical, non-sharing play; Use toys as objects; Learn by rote and not understanding; Low empathy; Follow rules exactly; Black and white thinking
Behaviour and rigidity ASD sx?
Obsessions to comfort them and have fun —> difference between this and OCD being that obsessions are non-comforting to them - egocyntonic vs egodystonic; Resist changes and new situations; Sensory issues
Management of ASD
Look out for comorbidities Education Communication toys Written instructions/ visual cues timetables PECS
What are reticulocytes?
Reticulocytes are precursor RBC
how are rbc made
RBC ar made from pluripotent cells, triggered by EPO from kidneys due to hypoxia
What are signs of anaemia?
Signs: pale, conjuctiva, tongue or palmar creases, pica (eating non food materials)
What are causes of anaemia by low production?
aplasia eg parvovirus, diamond blackfan, Fanconi. OR ineffective erythropoiesis eg iron deficient, folic acid low, ot malacsorb chronic inflamm or renal failure
What are causes of anaemia by high destruction?
membrane, enzyme disorders, haemoglobinopathies, haemolytic new-born disease
What are causes of anaemia by loss?
lose blood eg GI, vWB
what does cytic and chromic mean?
Micro, normo and macrocytic refer to size
Hypochromic means the RBC are pale –> this will be due to low haemoglobin
What does reticlocyte count indicate?
If reticulocytes are low there is low production, if high it indicates haemolysis/blood loss
What is physiological anaemia of the new born?
Haemoglobin naturally falls after birth, reaching lowest point of 2 months
This is due to increasing plasma volume, lower RBC production, neonate RBC having shorter life spans, switch from fetal haemoglobin to adult –> greater unloading of oxygen to tissues - lower oxygen affinity of HbA relative to HbF.
What is prematurity anaemia?
LBW means poor EPO response
Protein content of breast milk may not be sufficient for haematopoiesis in the premature infant.
What are sx of prematurity anaemia?
Signs and symptoms: apnoea, poor weight gain, pallor, decreased activity, tachycardia
Iron deficiency anaemia RF in children?
Diet!! More at risk if breast fed as lower iron Cow’s milk in excess can prevent uptake Hookworm infection Milk intolerance
sx of iron deficiency anemia?
Sx: pallor, irritable, anorexia, splenomegaly, tachycardia, cardiac dilatation, murmur
what would ix show for iron deficiency anaemia?
microcytic, hypochromic, low/normal reticulocytes
Pencil cells
High ZPP (Zinc protoporphyrin is a compound found in red blood cells when haem production is inhibited by lead and/or by lack of iron)
Low ferritin (protein that stores iron) and serum iron
Increased TIBC (total iron binding cap- blood ability to bind iron with transferrin, as if there is more transferrin available I.e. unbound to iron then the amount of TIBC will increase)
What is the management of iron deficiency anaemia?
PO iron for 3-6 months, measure reticulocytes for progress
What is the pathophysiology of haemolytic anaemia?
Increased RBC turnover and lower lifespan
There are increased reticulocytes due to increased production to try to compensate
Increased unconjugated bilirubin due to increased RBC break down
As abnormal cells must be broken down -> more breakdown products
What is the difference between intra and extra corpuscular destruction in haemolytic anaemia causes?
Intra corpuscular destruction: haemoglobin, enzyme and membrane problems
Extra corpuscular: Autoimmune – Fragmentation – Hyper splenism – Plasma factors - cancer - infection
What is mx of haemolytic anaemia and what are SE + their mx?
blood transfusion
Iron overload – deposits in organs (from long term transfusion of haemolysis) - monitor their ferritin. Manage with penicillamine (chelates the iron)
Sx of haemolytic anaemia?
Jaundice due bilirubin overload –> gallstones
Oedema due to protein increase - ascites
Leg ulcers
Aplastic crisis
VTE
What are the sx of rhesus disease?
Symptoms: enlarged spleen and liver due to compensatory hyperplasia for severe anaemia
What is the mx of rhesus disease?
Management: – prevention of sensitization with Rh immune globulin – intrauterine transfusion of affected fetuses
What is rhesus disease?
Mother rhesus negative and child positive
Mother makes antibodies against the baby’s blood group antigen which cross the placenta
• Haemolysis of Rh Pos fetal cells
How do you diagnose rhesus disease?
Positive coombs test to diagnose
What are examples of haemoglobinopathies?
SCD and thalassemia’s -They both have abnormal hb (different globin or imbalance of chains)
investigations for haemoglobinopathies?
Ix: Blood smears (may see mexican hat cells/ codocytes), high performance liquid chromatography (hb electrophoresis can still be used but less common) , FBC
SCD: raised hbF and have HbS no HbA; raised reticulocytes
thalassemia: HbA2 and ferritin raised
What is the inheritance for SCD?
AR
Pathophysiology SCD?
HbS polymerises inside the RBC –> spherical shape –> can become trapped in blood vessels leading to occlusion and ischaemia, this is exacerbated by cold and dehydration
SCD presentation?
• Anaemia – cardiomegaly (high output) – low Pulse Ox – high WBC
Splenomegaly
• Infarction – low O2 –> sickling due to Hb structure changes – pain crises – Strokes
• Infection/sepsis – more predisposed to infection due to asplenia from filtering abnormal RBCs – fever a serious sign
Priapism
• Splenic sequestration- blood can pool in spleen –> hypovolemia
• Acute chest – infection or infarction -sx include pain crisis, hypoxia, fever, neuro sx.
What causes an aplastic crisis in SCD?
• Aplastic crisis – parvovirus B19 infection (slapped cheek) - shutsdown rbc production, would normally be fine but bc these cells don’t live long anyway it bad
What are long term complication of SCD?
stroke, adenotonsillar hypertrophy (sleep apnoea syndrome), heart failure, renal dysfunction, gallstones
WHat is seen on FBC for SCD?
retic count raised, chronic low RBC, elevated WBC
What is the management of SCD?
Neonate screening - given penicillin if diagnosed as neonate
Give vaccines –pneumococcal, flu, meningococcal
Prophylactic penicillin (as high risk for sepsis)
Transfuse and chelate
stem cell transplant (if severe eg stroke or acute chest- need HLA match of sibling and 5% chance of fatal complications)
hydroxycarbamide (increase HgF- SE: teratogenic)
-infection: treated seriously, antipyretics, IV fluids, culture, CXR
-Pain: Treat mild with paracetamol and NSAIDs, fluids, O2, may need morphine –> presents as dactylitis in children due to unfused bones
-Acute chest syndrome: Admit, transfuse and give O2 and abx
What type of anaemia is thalassaemia?
Microcytic anaemia
What is thalassaemia?
Beta major means no functional beta chains are produced, minor only one allele has the mutation
Alpha involves gene mutations of HBA1 and 2 –> less alpha chains –> unstable beta only chains aka HbH
Presentation of major beta thalassaemia?
Minor –asx, mild anaemia
Major- severe anaemia, low MCV, HbF and A2 increased
Sx: jaundice, splenomegaly, fail to thrive, skeleton deformed, delayed puberty
Management of major beta thalassaemia?
Management: gene counselling, blood transfusions, manage iron overload - chelation eg deferasirox, bone marrow transplant if sefvere enough
How is G6PD inherited?
X linked inherited
What is the presentation of G6PD?
Presentation: neonate jaundice, haemolytic non-spheroctyic anaemia, intravascular haemolysis- causes fever, malaise, dark urine, abdo pain, haemoglobinuria, rigors, back pain
May have brown urine due to the myoglobin and free haemoglobin from rhabdomyolysis
What are triggers for G6PD sx?
Induced by drugs, FAVA BEANS, fever, acidosis
Mx of G6PD?
Stop precipitant, transfuse, support kidneys
Ix of G6PD?
Ix: Bite cells seen and hemighosts, G6PD levels measured when stable (appear misleadingly higher when unwell due to higher levels in reticulocytes)
normocytic anemia
What are other types of enzymopathies?
Pyruvate kinase deficiency
Hereditary Spherocytosis pattern of inheritance?
AD inheritance
What is Hereditary Spherocytosis ?
Affects protein membranes - part of it is lost after passing through the spleen resulting in an abnormal surface area to volume ratio
Presentation of Hereditary Spherocytosis?
Clinical presentation ranges from mild to transfusion dependent
Sx: jaundice, anaemia, splenomegaly, gallstones- same sx as all haemolytics
Ix of Hereditary Spherocytosis ?
blood film
What are causes of aplasia anaemia (failure to make blood cells from bone marrow)?
parvovirus B19, diamond black fan anaemia, Fanconi’s anaemia, lymphoma, leukaemia, neuroblastoma, osteopetrosis
FBC results for aplasia?
Reticulocytes very low with normal bilirubin
What are signs of diamond black fan anaemia
Commonly have physical abnormalities: craniofacial, thumb, deaf, MSK, renal, cardio
Mx of diamond black fan anaemia?
Treat with steroids
What three things are needed for clotting?
For clotting it needs platelets, coagulation factors, vascular integrity eg damaged in ehlos danlos or marfans
What Ix should be done for clotting disorders?
FBC, blood film, PT (for factors 2, 5, 7 and 10), thrombin time (for fibrinogen), quantitative fibrinogen assay, D dimers, biochemical screen
What is ITP (Idiopathic Thrombocytopenic Purpura)?
often follows virus
Bruises all over but well in self
if chronic may have associative bleeds eg GI, nose, gingivae
How is ITP diagnosed?
Is a diagnosis of exclusion!! so check bloods and look for leukaemia and SLE
blds will show: increased bleeding time and low plaelets
What is the mx of ITP?
watchful waiting. Check spleen and neutrophils. If don’t recover spontaneously may need steroids, Ig or splenectomy
What is the pathophysiology of DIC?
Inappropriate activation clotting cascade -> Fibrin deposition in the microvasculature and consumption of coagulation factors - blocking lots of small vessels -> use up clotting factors
Due to severe sepsis or shock or trauma
How does DIC present?
may have chest pain, shortness of breath, leg pain, problems speaking, or problems moving parts of the body - depending on location of clot
bleeding eg in urine, stool, petechiae, purpura
ix: low platelets, d-dimer elevated (unique to DIC), prolonged PT (as clotting facttors used up) and bleeding time increased due to this, fibrinogen low (as has been used up)
Mx of DIC?
platelet transfusion and treat cause
What is a d dimer?
D-dimer is a fibrin degradation product- used to measure the aftermath of presence of large clotting in body. It is so named because it contains two D fragments of the fibrin protein joined by a cross-link.
What are coagulopathies? Give examples
Errors in clotting cascade Bleeding disorders (haemophilia and von Willebrand's) and hypercoagulable states (protein C, antithrombin)
What does factor V and thrombin do?
Factor V converts prothrombin to thrombin which then converts fibrinogen to fibrin
What is Von Willebrand disease?
AD inheritance
low or non-working VWF
VWF is an adhesive link between platelets and damaged subendothelium
It also carries factor 8 around
What are the sx of Von Willebrand ?
Sx: mild bleed eg bruise, epistaxis, menorrhagia, prolonged bleeding after surgery
What is the ix of Von Willebrand disease?
Ix: clotting screen, APTT increase (measures the speed at which blood clots), vWF and factor 8 low
What is the mx of Von Willebrand disease?
Mx: tranexamic acid, DDAVP (desmopressin), Factor 8 or VWF plasma if severe
How is haemophilia inherited?
X linked – boys
What is the difference between haemophilia A and B?
Factor 8 low – haemophilia A and factor 9 low is haemophilia B
What are the sx of haemophilia?
Sx: muscle and joint bleeds –> arthritis and deformity, starts early childhood, bruising, in neonates may see bleeding from umbilical cord, ICH (cephalohaemotoma)
Increased APTT but with normal PT
What is the mx of haemophilia?
Mx: desmopressin can be used in mild casesof haemophilia A as promotes endogenous release of factors 8 and vWF
What is the most common type of leukaemia in children?
ALL is most common (85%) with AML being second most common
How does leukaemia present?
Presentation: anaemia, infection, bleeds, systemic sx, organ infiltation, weight loss, night sweats, loss appetite, sometimes mediastinal mass in T cell leukaemia
Ix: anaemic, WCC up or down, neutropenia, thrombocytopenia, blast cells, look at bone marrow and LP
How do fluids leave the body?
60% urine, 35% skin and lungs, 5% stool
What are causes of dehydration by reduced intake?
dysphagia, N+V (gastroenteritis, URTI, GORD, chemo), anorexia, neglect
What are causes of dehydration by increased loss?
gut (gastroenteritis, ibd), urine (DI, renal dysplasia), skin (fever, CF, burns), lungs (trache, cardio, CF)
What are signs of mild dehydration? (<5%)
Thirst • Dry lips • Restlessness, irritability
What are signs of Moderate (5-10%) dehydration?
Sunken eyes • Reduced skin turgor • Decreased urine output
What are signs of Severe (>10%) dehydration?
Reduced consciousness • Cold, mottled peripheries • Anuria
How would you manage dehydration?
NGT
IV fluids
What is the formula for calculating dehydration correct fluid bolus?
How about for maintenance fluids?
WHat is the fluid choice?
How do the boluses work?
Formula: Deficit(%) x 10 x Wt(kg) — over 24 or 48 hrs (do 48 so slower if sicker eg have diabetes or cardio problems)
maintenance: 1st 10 kg is 100ml/kg/day 2nd 10kg is 50ml rest of bodyweight is 20ml EG a 27kg child would be (10x10) + (10x50) + (7x20) / 24 hrs = 68ml/hr
FLUID CHOICE:
Older children - 0.9% NaCl and 5% dextrose
in DKA: Patients presenting with shock should receive a 20 ml/kg bolus of 0.9% saline over 15
minutes. Shock is defined as the APLS definition of tachycardia, prolonged central
capillary refill etc – it is not just poor peripheral perfusion. Following the initial 20 ml/kg
bolus patients should be reassessed and further boluses of 10 ml/kg may be given if
required to restore adequate circulation up to a total of 40 ml/kg at which stage inotropes
should be considered. Boluses given to treat shock should NOT be subtracted from the
calculated fluid deficit.
All patients with DKA (mild, moderate or severe) in whom intravenous fluids are felt to be
indicated AND WHO ARE NOT IN SHOCK should receive an initial 10 ml/kg bolus over
60 minutes. Shocked patients do NOT need this extra bolus. This bolus SHOULD be
subtracted from the calculated fluid deficit
What is the cause of a limp that particularly affects children aged <4 years?
Toddler fracture
What are the causes of a limp that particularly affects children aged 4-10 years?
Transient synovitis
Legg calve perthes disease
What is transient synovitis?
– post viral infection which leads to synovitis of the hip
What are the causes of a limp that particularly affects children aged >10 years?
osgood Schlatters disease
SCFE- slipped capital femoral epithesis
What is osgood Schlatters disease?
patella attached to tibia due to osteochondritis of patella tendon, usually very active teenage boys
What is the differential for a child with a limp at any age?
All ages: juvenile arthritis, osteomyelitis/septic arthritis/discitis, benign/malignant tumour, trauma
What is the difference between discitis, osteomyelitis and septic arthiritis?
Osteomyelitis = infection bone - metaphysis of long bones
Septic arthritis= infection joint
Discitis – get referred pain from inflammation of vertebral discs
how do growing pains present in a child?
If growing pains normally bilateral, no systemic sx, exam and ix normal, no limp, generalised
Which pathologies present with a toe walking gait?
Clubfoot, CP, limb length discrepancy
Which pathologies present with a trendelenburg gait?
Legg-Calve Perthes disease; DDH; SCFE; hemiplegic CP
What is the trendelnburg gait?
Trendelenburg gait is an abnormal gait resulting from a defective hip abductor mechanism. The weakness of these muscles causes drooping of the pelvis to the contralateral side while walking.
Which pathologies present with a circumduction gait?
CP, limb length discrepency
what is a circumduction gait?
gait in which the leg is stiff, without flexion at knee and ankle, and with each step is rotated away from the body, then towards it, forming a semicircle (hemiplegic gait)
Which pathologies present with a steppage gait?
CP, myelodysplasia; freidrichs ataxia; charcot-marie-tooths disease
what is a steppage gait
form of gait abnormality characterised by foot drop or ankle equinus due to loss of dorsiflexion. The foot hangs with the toes pointing down, causing the toes to scrape the ground while walking, requiring someone to lift the leg higher than normal when walking.
What are the possible causes of trauma to a leg in a child?
Non accidental; accident; osteogenesis imperfecta; vit D deficiency
What are common features of Osteogenesis imperfecta?
blue sclera, fracture often, Fhx
What is a Toddlers fracture?
Toddler’s fracture – undisplaced spiral fracture of tibia. Periosteum (blood supply) in tact. (similar to a greenstick fracture ie bend bone but periosteum in tact)
What are red flags in a limping child?
Anxiety/ severe pain – compartment syndrome
Night pain, weight loss - tumour
red and swollen, rash or bruise- juvenile arthritis, henoch-schonlein purpura, abuse
What is compartment syndrome?
muscle damage in fascia –> increased pressure in compartment –> pressure higher than capillaries –> no blood supply and subsequent necrosis
How does discitis present?
radicular pain - radiates from your back and hip into your legs through the spine. The pain travels along the spinal nerve root.
numb, paraestheia, mule weakness
How does Osteomyelitis present?
acute
Pseudo paresis, fever, swelling and tender
Blood cultures usually positive
What is the mx of osteomyelitis?
Abx immediate given, surgical drainage done if unresponsive to abx
Septic arthritis RF?
RF: premature, c-section, invasive procedures/ trauma causing direct inoculation, haemotogenous seeding, adjacent bone- osteomyelitis
What micro-organisms cause septic arthiritis (in neonates vs children)?
Commonly strep B (neonate), S.areus (child)
How does septic arthiritis present?
Present: recent trauma or infection, acute pain, systemic sx eg fever, limp or wont weight bear, raised ESR, hold still -pseudoparesis
O/E- swollen, red, tender, warm, severe pain on passive ROM. Leg held flexed, abducted, ext rotated
What Ix do you do for septic arthiritis?
Ix: WCC, ESR, needle in synovium to see if pus (pus can lead to dissolve of chondral surfaces- affects growth plate), blood cultures, U/S if deep joint eg hip,
What is the mx of SA?
Mx: surgical wash out, abx, rest
WHat is the Kocher criteria for SA?
WCC >12,000 Inability to bear weight Fever >38.5 ESR >40 If score 0 - <0.2% chance of septic arthritis
What is the Mx for transient synovitis?
Mx: Treat with NSAIDs and let go home
What are RF for transient synovitis
trauma, allergy, viral infection, previous transient synovitis
How does transient synovitis present?
URTI, mild/no fever, acute groin/thigh pain, refuse to weight bear, improves during day, restriction of internal rotation, painless arc of motion, no pain at rest
How does (DDH) developmental dysplasia of the hip present?
Shortening
Reduced Abduction
Skin crease asymmetry
Barlow / Ortolani positive
What is the Barlow/ Ortolani test?
Barlow is newborn test for DDH which dislocates (hear/ feel clunk) the hip by adducting the hip at a flexion of 90 degreed and then giving pressure at the knee in a downwards direction
Ortolani reloctes hip joint - do opposite- push thigh anterior and then abduct
Remember B before O!
What are RF for DDH?
Screening risk factors: Family Hx, Breech, >98th centile birth weight, Multiple pregnancies
What is Perthe’s disease?
avascular necrosis (loss blood supply-> death) of the proximal femoral epiphysis in children Possibly caused by abnormal clotting factors eg Protein S and C deficiencies, thrombophilia
What are RF for Perthe’s disease?
RF: LBW, male, 4-8 yrs, unilateral more often
What is the presentation of Perthes disease?
insidious onset, see XR including density of the femoral head, leg length discrepancy, waddle gait, Many develop OA secondary due to aspherical femoral head
What is the Mx of Perthes disease?
Mx: Resolution of symptoms – NSAIDs, traction, crutches. Restoration of ROM – physio, muscle lengthening. Containment of hip – osteotomy
What is slipped capital femoral epithesis (SCFE) ?
slippage of the metaphysis relative to the epiphysis
What is the presentation of SCFE?
Usually adolescent obese males and hypothyroid, low GH, renal osteodystrophy association
Groin, knee and thigh pain, Limp – antalgic gait, externallyk rotated foot progression angle,
Duration – symptoms usually present for weeks to several months before diagnosis
Examination- Decreased hip ROM – obligatory Ext Rotation during passive flexion, Loss of hip IR, abduction, and flexion
What would you see on an Xray of SCFE
Diagnose on XR, klein’s lines to look at femoral leg and length
What is the mx of SCFE?
Mx: percutaneous pinning
What is the terminology in derm?
Macule = small flat area of altered colour eg café au lait spot, freckle, mumps, rubella Patch = large area of altered colour or texture eg vitiligo Papule = small and raised eg acne, allergy Maculopapular = both, eg measles, parvovirus, scarlet fever Plaque = latrge raised region eg psoriasis Nodule = large raised region with deeper part eg nodular lesion of the erthema nodusum Vesicle = small clear blister eg varicella Bulla = large clear blister eg trauma, impetigo Weal = transient raised lesion due to dermal oedema eg urticaria Pustule = pus containing blister eg paronychia Pupura = bleeding into the skin, smaller areas = petechiae, non blanching eg meningococcal septicaemia, Henoch Schönlein purpura, DIC, ITP Scales = flakes of dead skin eg cradle cap Crust = dry exudate containing serum, scales, pus, dried blood eg impetigo
What is a strawberry mark?
Strawberry marks (haemangioma) – raised, red. self limiting (increase first six motnhs and usually disappear by 7) but beware over eye and in airway. Can treat with propranolol or steroids if that doesn’t work.
what is a port wine stain?
Port wine stain/ capillary malformation – permanent. Flat and red/purple
Usually unilateral and on face, chest or back. Deepen in colour with hormones changes.
If along trigeminal nerve may be sturge weber sndrome
What is a mongolian blue spot?
Mongolian blue spot - usually non-Caucasian ancestry.
Blue-grey bruise like marks, non permanent.
what may a cafe au lait spot inidicate
more than 5 = neurofibromatosis.
What are milia?
(milk spots) – sebaceous plugs.
How does eczema usually present?
- itchy rash, erythema, weeping, crusting. Excess rubbing leads to lichenification.
- complications: infection with S aureus or herpes (eczema herpeticum)
- Infancy - dry, red, itchy and sore patches of skin over the flexor surfaces (the inside of elbows and knees) and on the face and neck.
- Young children - occurs on the extensor surfaces
How is eczema mx?
-mx: emoillients, topical corticosteroids, avoid irritants, occlusive banadages
corticosteroids:
mild: hydrocortisone
moderate + severe: betamethasone valerate 0.025% or clobetasone butyrate 0.05%
-Flucloxacillin is the first-line choice for infected eczema
What is a primitive reflex?
Primitive reflexes = present at birth but want gone by 6 months
What are the primitive reflexes?
startle reflex with abduction of arms and open palms with load noises, moro (4 letters, gone by 4 months), grasp/palmar (6 letters, gone by 6 months), rooting/placing, ATNR
What are the milestones for gross motor?
Newborn
Flexed arms and legs
Equal movements
3 months
lifts head on tummy
6 months
Chest up with arm support
Rolls
Sit unsupported – six months is sitting
9 months
Pulls to stand
crawls
1 year
cruises
18 months
walking
2 years
Walks up steps with rail
runs
3 years
Jumps
stairs without rail
4 years
Hops
5years
Rides a bike
What are the milestones for fine motor and vision?
3 months
fix and follow
reaches
holds rattle briefly
6 months
palmar grasp
passes palm to palm
8 months
Takes a cube in each hand
points
12 months
scribbles with a crayon
pincer
namgs toys
18 months
Builds a tower of 2 cubes
2 years
tower of 6 cubes
draws line
3 years
Tower of 8/9 cubes
draw circle
4 years
draws cross
5 years
square and traingle and diamond
In terms of drawing usually able to scribble then do face then do cross then do rectangle then square then triangle then diamond by 5 yrs
What are the speech language and hearing milestones?
3 months Laughs and squeals, turns to voice
6 months: babbles eg adah
9 months ‘dada, mama’
12 months 1 word outside mama and dada, simple command following, knows name
2 years 2 words sentences Names body parts
3 years Speech mainly understandable, colours known, Talks in short sentences (e.g. 3-5 words)
Asks ‘what’ and ‘who’ questions
Identifies colours
Counts to 10 (little appreciation of numbers though)
4 years Asks ‘why’, ‘when’ and ‘how’ questions
5 years Knows meaning of words e.g what is a lake?
What are the social and self care milestones?
6 week Smiles spontaneously
6 months Finger feeds
9 months Waves bye – bye, shy, puts things to mouth, peek a boo
12 months Uses spoon/fork, helps a bit with dress and undress
2 years Feed a doll, Puts on hat and shoes
3 years Play with others, name a friend and Put on a t-shirt, uses spoon and fork
4 years Dress no help and play a board game, uses knife and fork
What are feature of the Healthy child Programme?
Eg the Neonate exam, the red book
Have the ASQ that health visitors do
What are red flags in the milestone checks?
Not sitting by 1 year or walking by 18 months
Hand preference before 18 months
Not smiling by 3 months or clear words by 18 months
No response to carers interactions by 8 weeks, or playing with peers by 3 yrs
Regression in milestones
Poor health n growth
Safeguarding issues
what are causes of developmental delays?
chromosome abnormalities eg downs Single gene disorders eg Rett syndrome or Duchenne's Polygenic, autism, ADHD Congenital infections eg CMV Exposure to alcohol/drugs MCA infarct – cerebral palsy - motor impairment most common cause Prematurity Birth asphyxia Infection eg meningitis, encephalitis Chronic disease Metabolic conditions ABI Hearing or visual impairment Abuse and neglect Remember the categories: genetic, pregnancy, childhood, birth, environmental
What are the ix for developemntal delays?
If boys not walking by 18 months do a CK check for Duchenne’s
If neuro signs do an MRI brain
If a Fhx consider karyotyping
If unwell or failing to thrive then do metabolic ix
If global delay consider CGH microarray
What is the aetiology of paediatric malignancy?
oncogenes, inherited (eg retinoblastomas), some conditions put you at increased risk (eg downs, immune compromised and NF1)
What is the most common form of leukaemia in children?
ALL
How does leukaemia present in childrem?
Bone marrow infiltration – bony pain -> anaemia, neutropenia, thrombocytopenia
Anaemia – pale and tried
Neutropenia – recurrent infection
Thrombocytopenia – bruising, petechiae and nosebleeds
Other sx
extramedullary disease.
lymphadenopathy and hepatosplenomegaly.
weight loss, bone pain, and dyspnoea.
Signs or symptoms of CNS involvement: rarely seen at presentation.
eg headache, nausea and vomiting, lethargy, irritability, nuchal rigidity, papilloedema. Cranial nerve involvement (most frequently involves 3rd, 4th, 6th and 7th nerves)
Testicular involvement at diagnosis is rare. However, if present, it appears as painless testicular enlargement and is most often unilateral. - do U/S if this occurs
Ix for leukaemia?
blood film, CXR (mediastinal mass), bone marrow aspirate and biopsy (confirms diagnosis, plus do immunophenotyping, cytogenetic and molecular analysis to classify type), LP (check if in CSF and if need intra thecal therapy)
mx for leukaemia?
Before start treatment correct anaemia with blood transfusion and fluids plus allopurinol if WCC high and kidneys at risk of rapid cell lysis. chemo in five stages, with one year longer for boys due to possible testicle infiltration, stem cell transplant in high risk patients during first remission and relapsed patients.
How does CNS cancer usually present?
caused by raised ICP: headache (worse lie down), early morning vomiting, papilloedema, squint (6th nerve palsy), nystagmus, ataxia (loss of skill in younger child), personality change, seizures
ix for CNS tumour?
MRI, remember check ICP before LP
What are the indications for a MRI in a child other than a tumour?
papilloedema, decreased acuity, visual loss
If also other neurological signs (or they develop)
If recurrent and/or early morning
If associated with vomiting
if persistent, more frequent, preceded by headache
If also have short stature / decelerated linear growth
If have symptoms of diabetes insipidus
If age < 3 years
If child has neurofibromatosis (NF1)
WHat is the mx for a CNS tumour?
surgery better if low grade and easily and fully resectable, VP shunt, radio and chemo- needs to penetrate BBB (the more young the child is the more likely to lead to disability so radiotherapy is generally CI in very young)
when should lymphadenopathy be biopsied?
Biopsy if supraclavicular, persistent or has associated sx of lymphoma
what causes lympthadenopathy?
Lymphadenopathy is caused by an increase in lymphocytes and macrophages due to viruses or infection. Can build up with infection in nodes themselves like lymphadenitis, or with neoplastic lymphocytes in lymphoma or with metabolic laden macrophages in gaucher disease. Consider HIV.
ix for lymphadenopathy?
lymph node biopsy, CT/MRI if non hodgkins
what is the mx for hodgkins vs non hodkins lymphoma?
NHL- chemo, radio only in rare case of spread to testes/CNS
Hodkins- chemo and radio (due to residual bulk disease)
Do stem cell transplant if relapse
What is associated with cancerous abdo mass?
pain, haematuria, constipation, htn or weight loss asociated
What are the differentials for an abdo mass in a child?
heaptoblastoma, wilm’s, neuroblastoma, lymphoma/leukaemia, sarcoma, constipation, polycistic kidneys
what is the difference between a neuroblastoma and a wilms tumour?
Neuroblastoma (bone marrow disease) tumours tends to wrap around middle and cross midline. Do surgery if low risk alone. Do chemo is higher risk or have had sx from tumour eg SCC, resp problems. Generally poor prognosis.
Wilms: doesn’t tend to cross midline on scan. Treat with chemo , nephrectomy if uni and partial if bi, radio if high stage
ix for a suspected cancerous abdo mass?
Ix: U/S, CT, biopsy
what is a neuroblastoma?
Arises from neural crest of adrenal medulla and SNS
Most common before age 5yrs
Raised catecholamine levels are suggestive ie VMA/ HVA
how does a neuroblastoma present?
Present: pale weight loss, abdo mass, hepatomegaly, bone pain, limp
mx for a neuroblastoma?
Treat with chemo, stem cell therapy and radio
What is a wilms tumour?
aka nephroblastoma
Originates from embryonic renal tissue, most present before 5 yrs
how does a wilms tumour present?
haematuria, abdo mass
What is a retinoblastoma?
Retinoblastoma occurs due to an inherited mutation in a tumour suppressor gene known as RB1.
Most children with inherited retinoblastoma generally have tumours involving both eyes. The RB1 gene is an autosomal dominant gene. When a child inherits the gene, there is a 75 to 90 percent chance for the second mutation to occur, resulting in retinoblastoma.
what are the sx of retinoblastoma?
leukocoria – loss of red reflex (also called cat’s eye), Strabismus, pain or redness around the eye, poor vision or change in child’s vision
what is the mx of retinoblastoma?
chemotherapy, radio, laser therapy, phototherapy, thermal therapy, cryotherapy, enucleate the eye via surgery
What are the cancer differentials for proptosis?
neuroblastoma, rhabdomyosarcoma
What are the cancer differentials for Recurrent discharge from ear?
rhabdomyosarcoma, Langer cell histiosis
How do CNS tumours tend to differentiate in children vs adults?
In comparison to adults they are nearly always primary tumours and majority arise below the tentorium
how does discitis present?
locally tender, reluctant to walk, pain on flexion spine, see on XR + MRI, fever
what is Spondylylolysis?
stress fracture in vertebrae, usually due to sports, if bilateral can be spondylolisthesis – lead to SCC
what are red flags for back pain in children?
young, fever, night waking, focal neuro signs eg nerve root irritation, bowel or bladder sx, systemic sx
How may a UTI present in a child?
miserable, fever, vomiting, may be able to communicate dysuria
What ix may be done for a UTI?
Do urine dipstick and culture
Culture – most common growth is e.coli, if other organism is regarded as atypical
USS needed for structural abnormalities and renal scarring secondary to recurrent UTIs
mx for UTI?
Start oral antibiotic treatment — first line options include trimethoprim (if there is low risk of resistance), or nitrofurantoin (if eGFR ≥ 45ml/minute). Second line options include nitrofurantoin (if eGFR ≥ 45ml/minute) if it has not been used as a first-line option, amoxicillin (only if culture results available and susceptible), or cefalexin.
summary of osteomyelitis
Usually hx of trauma, pain, lethargy
Blood cultures and XR
S. aureus common cause – sensitive to flucloxacillin
IV cefuroxime for 6 weeks
summary of meningitis
Fever, GCS dropping, purple rash
Think is it bacterial meningitis or meningococcal sepsis
IV cefotaxime , ceftriaxone or benylpenicillin
Ix blood culture, CSF
summary of pneumonia
Pyrexia, malaise, SOB Do CXR and blood cultures S.pneumoniae main causitive agent Give IV benzylpenicillin if severe or PO amoxicillin if mild If lack of response look for empyema
Which babies are more at risk of hearing problems?
premature, chemo, CF, CMV at birth, head trauma, cleft palate and downs as more at risk of hearing loss
What happens at baby hearing tests?
Measure: hearing threshold, frequency, each ear in turn, conductive vs sensorineural
Plot on an audiogram
When do hearing tests take place and what tests are done?
Behavioural Observation Audiometry – . A computer generated click is played through a small earpiece. The presence of a soft echo indicates a healthy cochlea
0-6 Months
Distraction Test – bility of the baby to hear a sound then turn to locate it. The sounds are produced to the right or left behind the baby out of their field of view.
6-18 Months
Visual Reinforcement Audiometry – Ask child simple questions - e.g. ‘where is the teddy?’
6-30 Months
Performance Testing – This involves teaching your child to listen and wait for a sound, and then respond in some sort of play activity to the sound
24 Months+
What is conductive hearing loss and what causes it?
normally a middle ear problem and temporary with Max 60 dB hearing loss
How is conductive hearing loss managed?
Manage: usually self-limiting as eustachian tube increases in size, grommets to release fluid, BAHA (bone anchored hearing aid) if more permanent
What causes conductive hearing loss?
Causes: most common- glue ear (otitis media + effusion), otitis media, eustachian tube problem (downs and cleft palate linked), perforated eardrum, build up of wax
What is sensorineural hearing loss?
Inner ear problem, more permanent
Profound hearing loss
Doesn’t improve
What causes sensorineural hearing los?
genetic, antenatal infection, preterm, post natal infection, head injury or drugs
mx of sensironeural hearing loss?
Manage with amplifier hearing aid or cochlear implant
In mixed hearing loss should conuctive or sensironeural be fixed first?
conductive
What makes up the auris externa/ media/ interna?
Outer= pinna to tympanic membrane
Middle = ossicles, eustachian tube, chorda tympani, facial nerve
Inner = nasopharynx, cochlea, saccule, utricle, vestibulocochlear nerve
What are the different parts of tympanic membrane/ eardrum and how are they different?
Pars flaccida = 2 layers
Pars tensa = main part of ear drum, taught, 3 layers as has fibrous layer
How does the ear develop embryologically?
Pinna develops from mesoderm from branchial arch
List some congenital problems of the ear
outer ear: failure of arches, microtia (pinna fails to form properly), atresia, pre-auricular sinus, accessory auricles ( buds on ears), prominent ears (cosmetic issue)
Middle ear • Abnormal ossicles • Craniofacial syndromes
Inner Ear • Scheibe (cochleosaccular) dysplasia • Mondini (cochlear) dysplasia • Bing-Siebenmann (vestibulocochlear) dysplasia – membranous labyrinth affected • Michel aplasia – complete labyrinthine aplasia
How will otitis externa present and what is usual mx?
will be painful, itchy, reduced hearing, inflammed, often swimmer/ runner
treat with microsuction/ topical abx
How will otitis media present?
fluid, pain if ear perforates, hearing loss, signs of infection
How is otitis media managed?
- Conservative: Do nothing, Eustachian tube autoinflation (Otovent balloon) – 2. Ventilation tubes (Grommets) – 3. Hearing aids: alternative to surgical intervention where surgery is contraindicated or not acceptable
What are complications of otitis media?
mastoiditis (inflamm behind ear), cholesteatoma.
what is a cholesteoma?
skin cells grow in ear – which presents with repeated infection, offensive discharge, perforated eardrum and white material in ear
what are the sinuses of the face?
frontal, ethmoid, sphenoid, maxillary
What is Choanal atresia and what is its presentaion?
nose fails to canalise
Presentation: cry and go pink then go blue then cry and go pink again, no misting on cold spatula, cant pass NGT
mx of choanal atresia?
secure airway then refer for dilatation and stent
What are causes of craniofacial abnormalities ?
Syndromic – Down, Apert, Pfeiffer, (bulgy eyes an narrow face) Crouzon, Treacher Collins
May have problems with airway – OSA, midfacial hypoplasia
What may be a posible sign of foreign body inhalation ?
Unilateral discharge
What are the 3 different parts of the pharynx?
naso -> oro -> hypo
Why is the nose prone to bleeding?
Rich blood supply – particularly littles area which is anteroinferior part of nasal septum where four arteries anastomose
What are triggers or epistaxis?
Triggers: nose pick, inflammed, foreign body, trauma, clotting disorder
What is the mx of epistaxis?
ABC, packing, naseptin, silver nitrate cauttery, electrocautery if bad. Blood transfusion.
What should you be cautious of in a teenage boy with persistent nosebleeds?
juvenile nasopharyngeal angiofibroma
What is sinusitis associated with?
(Rare in paeds)
Associated with nasal polyps
What can be a complication of sinusitis and what does it involve?
Preorbital cellutlitis
Medical emergency
• URTI followed by painful swollen eye
• Proptosis
• Red colour vision: sign of optic nerve compromise
Mx• IV Abx • Incision and drainage of abscess
Name a difference in the throat between adults and children?
Childs narrowest point is cricoid ring vs VC in adults
Where are the adenoids vs the tonsils?
Both are collection of lymphoid tissue (Waldeyer’s ring)
tonsils: visible, pharyngeal, two
adenoids: not visisble, palatine
What is larygngeal atresia?
larynx fails to open - need trache
What is laryngomalacia and how it presented?
softening of larynx- floppy voice, stridor when feeding, worse when supine, FTT, increased work of breathing
how is laryngomalacia ix?
Flexible nasendoscopy examination: omega shaped epiglottis, short aryepiglottic folds, bulky, prolapsing arytenoids
mx of laryngomalacia?
Close monitoring • Weigh (?daily/weekly at first) • Antireflux • If not coping NG tube • ?surgery – microlaryngobronchoscopy + aryepiglottoplasty • Is self limiting stridor lessens and gone by 2 years old
What does the type of stridor reveal about its location?
Inspiratory: laryngeal – Biphasic: subglottis/trachea – Expiratory: bronchi
Summarise epiglottitis
Epiglottitis rare age 2-5: sudden onset v unwell, drooling, stridor – Haemophilus influenzae B (HiB) • Medical emergency • Do not agitate child • Theatre (intubate if poss)
summarise croup
Laryngotracheobronchitis • Common • Low grade fever • Not v unwell • Parainfluenza virus types 1 and 2 • Stridor- biphasic and barking cough • O2 , steroids, adrenaline nebulisers
What can enlarged tonsils and adenoids cause?
Obstruction sleep apnoea – Apnoeas: cessation of breathing + desaturations
How may OSA present?
• Snoring/stertor (upper airways noises)
• Restless
• Sweaty
• Poor eaters – will choke (drink milk copiously)
• Failure to thrive
• Pauses in breathing at night, gasping – apnoeas
• Behavioural problems: hyperactivity, tiredness as wont sleep
O/E: mouth breathing, adenoid facies (long face syndrome) • Large tonsils • Pes excavatum
Ix for OSA?
?Domiciliary sleep study/polysomnography (EEG, ECG, O2 sats, infra red cameras, movement detectors)
Mx of OSA?
Adenotonsillectomy
Monitor O2 sats overnight post op and give nasal prong
How may liver problems present?
encephalopathy, jaundice, epistaxis, cholestasis (pale stools and dark urine), ascites, rickets, varices, spider naevi, wasting, bruising, palmar erythema
Which vitamin absorptions are affected by liver problems and why?
Fat malabsorption - as long chain fat is not absorbed well without bile leading to essential fatty acid deficiency (vitamins ADEK) and therefore fat-soluble vitamins deficiency.
How may the low vitamin absorption secondary to liver pathophysiology present?
Vit A low – night blindness
Vit K low – bleeding
Vit E low – peripheral neuopathy, ataxia
Vit D low – rickets and fractures
How does biliary atresia present?
Mild jaundice and pale stools
Raised bilirubin and abnormal LFTs
ERCP diagnostic
How do the testes migrate down during development?
The testes migrates down the inguinal canal due to testosterone from SRY gene in embryo
What is the difference between ectopic and intrabdominal undescended testes?
intraadbdominal= in inguinal canal but furhter up
Ectopic = below external inguinal ring but outside scotum
What is the mx of undescended testes (cryptorchidism)?
commonly do nothing and will resolve itself
review at 3m and surgery at 6m
Bilateral and impalpable - urgent Orchidoplexy
How does testicular torsion present?
Neonate and puberty most common
Sudden onset severe pain, vomiting, tender testicle, red and swollen LATE signs
Have 6 hrs to save testis via surgery
How does torsion of appendix testis present?
mimics testicular torsion- is more common
often in prepubertal boys
pain not usually as severe or as acute onset as torsion
can be a “blue dot” (1/3 of cases) - only reliable way to differentiate from testicular torsion
What is the appendix testis?
remnant of paramesonephric (Mullerian) duct
What are medical indications for circumcision?
balanitis, reccurrent UTI, needs intermittent cathetrisation, HIV prophylaxis
How does hypospadias present?
Three features – ventral urethral meatus, ventral curvature penis, hooded foreskin
mx for hypospadias?
Refer to paediatric urology
Check the testicles are palpable
May have surgery
Make sure not to circumcise
What should be done on examination of a scrotal lump?
Can you get above it?
Light torch?
How does an inguinal hernia present?
Present as lump groin, more visible strain, may be able to plapate cord structure
older: may be increase with cough, appear w lifting, dragging sensation, pain
What is the difference between a direct and indirect hernia?
Indirect: a protrusion through the internal inguinal ring passes along the inguinal canal through the abdominal wall, running laterally to the inferior epigastric vessels.
Direct: the hernia protrudes directly through a weakness in the posterior wall of the inguinal canal, running medially to the inferior epigastric vessels.
which inguinal hernia is more common in children?
indirect (though direct can be more common in premmies who have weak muscle wall)
What is warning sign for surgery with inguinal hernias in children?
If contents of hernia are irreducile/ incarcerated it becomes painful, may cause obstruction and torsion
How does a hydrocele differ from an inguinal hernia?
Same anatomy as hernia but the processus vaginalis though patent is not wide enough to form a hernia
How may a hydrocele present?
Normally asx, sometimes seem blue, usually can still feel testis, can GET ABOVE and it transilluminates
mx of a hydrocele?
Leave alone - normally resolves spontaneously as processus vaginalis closes
What is a varicocele and which side is it more common on?
Scrotal swelling of dilated veins
Commoner on the L side due to drainage of gonadal vein into L renal vein
How may a varicocele present?
o/e may be blue, feel like bag of worms
How is a varicocele managed?
Mx usually conservative, can occlude veins through surgery eg embolisation if sx
What are some embryological causes of neck lumps?
Thyroglossal remanants - Painless, firm midline neck mass, usually near the hyoid bone, which elevates with swallowing and tongue protrusion
Branchial arch/cleft remnants - Usually diagnosed in late childhood/adulthood after previously undiagnosed cyst becomes infected
Often a history of preceding upper respiratory infection
Painless, firm mass lateral to midline, usually anterior to the sternocleidomastoid muscle, which does not move with swallowing
What is omphalitis?
Omphalitis of newborn is the medical term for inflammation of the umbilical cord stump in the neonatal newborn period, most commonly attributed to a bacterial infection
What is gastroschisis?
Gastroschisis is a birth defect in which the baby’s intestines extend outside of the abdomen through a hole next to the belly button.
What is Omphalocele?
Omphalocele, is a rare abdominal wall defect in which the intestines, liver and occasionally other organs remain outside of the abdomen in a sac because of failure of the normal return of intestines and other contents back to the abdominal cavity
What is oesophaegeal atresia?
Esophageal atresia is a congenital medical condition that causes the esophagus to end in a blind-ended pouch rather than connecting normally to the stomach.
Associated with tracheo-oesophageal fistula and polyhydramnios
May present with choking and cyanotic spells following aspiration
VACTERL associations
What is duodenal atresia?
Duodenal atresia is the congenital absence or complete closure of a portion of the lumen of the duodenum. It causes increased levels of amniotic fluid during pregnancy and intestinal obstruction in newborn babies.
How may duodenal atresia present?
Associated T21
Vacterl - vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities
Double bubble on XR
Bilous vomiting
Summarise Hirschprung’s disease?
Distal aganglionosis that causes:
Failure to pass meconium
Progressive abdominal distension
mx : Usually washouts then pull through operation
summarise meconium ileus
Affects CF patients a lot
Thick intestinal secretions from pellets
Blocks terminal ileum
X-Rays will not show a fluid level as the meconium is viscid, PR contrast studies may dislodge meconium plugs and be therapeutic
Infants who do not respond to PR contrast and NG N-acetyl cysteine will require surgery to remove the plugs
Summarise Necrotising enterocolitis
Necrotizing enterocolitis is a medical condition where a portion of the bowel dies. It typically occurs in newborns that are either premature or otherwise unwell. Symptoms may include poor feeding, bloating, decreased activity, blood in the stool, or vomiting of bile.
Caused by poor blood flow and infection
Prematurity is the main risk factor
Early features include abdominal distension and passage of bloody stools
X-Rays may show pneumatosis intestinalis and evidence of free air
Increased risk when empirical antibiotics are given to infants beyond 5 days
Treatment is with total gut rest and TPN, babies with perforations will require laparotomy
What is the difference between single gene disorders, chromosomal and multifactorial inheritance?
Single gene disorders – mendelian inheritance eg CF, HD, haemophilia
Chromosomal – affects thousands of genes and multiple organs eg T21
Multifactorial – several genes act with environment eg neural tube defect, diabetes, cleft palate, schizo
How may trisonomy 21 present in terms of dysmorphic features?
Epicanthic folds and other dysmorphic features: round face and flat nose, brushfield spots in iris, small ears, small mouth, flat occiput, thirs fontanelle, short neck, single palmar crease, sandal gap between first and second toe, hypotonia
How may T21 present, in terms of medical issues?
Intellectual disability duodenal atresia, hirshprungs Delayed development microcephaly Heart problems Visual and hearing problems Obstructive sleep apnoea Hypothyroisism Early onset Alzheimer's epilepsy
What are the different types of trisomies?
T21 = downs T13= pataus T18 = edwards
What is the pathophysiology of downs syndrome?
Linked to raised maternal age
Can be caused by Robertsonian translocation (second mos common cause) – part of chromosome breaks off and joins other so there’s double at chromosome 21
Non disjunction occurs at meisosis and is associated with maternal and paternal increased age
How is T21 diagnosed?
Cytogenetics: non disjunction, translocation or mosaicism
Screen for downs with nuchal thickening on US and markers in blood
Describe AD inheritance?
50% chance inheritance No skipped generations Equal transmission with sexes Variable expression and penetrance Vertical transmission Only one copy of gene pair altered Gonadal mosaicism may occur
What are examples of AD inheritance?
polycystic kidney disease, hypercholestraemia, marfans, HD, familial breas and ovarian cancer – BRAC1 and 2, FAP, hnpcc
What is gonadal mosaicism?
where mutations occur in egg/sperm so found in adults blood but parents are not affected only their children – associated with ASD, schizophrenia
What is variable expressivity?
refers to the range of signs and symptoms that can occur in different people with the same genetic condition eg treacher collins
What is autosomal recessive inheritance?
Need two germline mutations – one from each parent – heterozygous carriers
Unless consanguinity usually only one generation affected
¼ risk siblings
2/3 (66%) risk carrier unaffected siblings - IF know that they dont already have the disease
Give examples of AR inheritance?
CF PKU, haemochromatosis, SMA
What is X linked inheritance?
Girls unaffected
Females carriers
50% sons affected and 50% daughters carriers
None of offspring of affected males have disorder
Gonadal mosaicism may occur
What are examples of x linked inheritance?
Duchenne’s and beckers muscular dystrophy, fragile X syndrome, haemophilia, fabrines
How does Duchenne’s present?
motor milestones delayed waddling gait gowers sign hypertrophy calf muscles FTT speech delay fatigue CK level high at first presentaion
What is fragile X syndrome?
Most common form on inherited learning diability
Female carriers also have learning difficulties
Clinical features: learning difficulty, macrocephaly, long face, long and everted ears, broad forehead, mitral valve prolapse, scoliosis. Macro-orchidism
What are the different kinds of non-mendelian inheritance?
multifactorial; mitochondrial; imprinting
What is multifactorial inheritance and give an example?
Eg neural tube defect – failure of fusion of vertebrae
Combination genetic eg meckel gruber syndrome, with folic acid and maternal DM environmental factors
What is a mitochondrial inheritance and give an example
Maternally inherited from cytoplasm of ovum and mitochondrial DNA
Eg MELAS (lactic acidosis, stroke like episodes), MERRF (myoclonic epilepsy, ragged red fibred on biopsy)
What is imprinting and give some examples
For most genes both copies are expressed but with some genes only the maternal or paternal is expressed this is imprinting –> eg two copies of one parental chromsone and none of other OR a deletion mutation occurs
EXAMPLES: prader willi and angelmans
Describe Prader Willi syndrome?
Neonate hypotonia and poor feeding Learning diability Small geneitalia hypotonia Later obese - as overeat (Hyperphagia)
Describe Angelman’s syndrome?
“happy puppet” - unprovoked laugh or cry Microcehally Seizures Learning disability Ataxia Broad based gait
List all non-significant lesions of the newborn.
mongolian blue spot
milia
Neonatal urticaria (erythema toxicum) – a
common rash appearing at 2–3 days of age,
consisting of white pinpoint papules at the centre
of an erythematous base. The lesions are concentrated
on the trunk; they come and go at different sites
Capillary haemangioma or ‘stork bites’ – Flat red or pink patches on a baby’s eyelids, neck or forehead at birth and are vascular in cause
Strawberry naevus (cavernous haemangioma).
List some derm abnormalities of the newborn that dont go away
Port-wine stain (naevus flammeus).
How does psoriasis present?
Child presents with recurrent symptoms of dry, flaky, scaly, erythematous skin lesions, they are raised and rough patches over the extensor surfaces of the elbows and knees and on the scalp.
associated HLA-B13 and abnormal T cell activity stimulates keratinocyte proliferation.
Describe pataus
Microcephalic, small eyes
Cleft lip/palate
Polydactyly (extra fingers)
Scalp lesions
Describe edwards
Micrognathia Low-set ears Rocker bottom feet Overlapping of fingersThere are several ultrasound markers which are suggestive of Edwards syndrome and should prompt further investigation. These include: Cardiac malformations Choroid plexus cysts Neural tube defects Abnormal hand and feet position: clenched hands, rocker bottom feet and clubbed feet Exomphalos Growth restriction Single umbilical artery Polyhydramnios Small placenta
Describe noonans
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Describe malrotation
High caecum at the midline
Feature in exomphalos, congenital diaphragmatic hernia, intrinsic duodenal atresia
May be complicated by the development of volvulus, an infant with volvulus may have bile stained vomiting
Diagnosis is made by upper GI contrast study and USS
Treatment is by laparotomy, if volvulus is present (or at high risk of occurring then a Ladd’s procedure is performed
