Gen Paeds Flashcards
You can be diagnosed with intellectual disability and a specific learning disability? (T/F)
False
Criterion for an SLD is to NOT have ID - i.e. IQ<70
You can be diagnosed with autism and a specific learning disability? (T/F)
True - SLD can co-exist with autism or ADHD, as long as IQ >70
What age range is the WPPSI appropriate for?
Wechsler preschool and primary scale of intelligence
2.5 - 7 years 7 month
Appropriate age range for the WISC?
Weschler Intelligence Scale for Children
Age 6 yr to 16 yr
$500-$1000 for psychometric testing?
Wechsler Individual Achievement Test
Whats it for?
WIAT
Assess academic capabilities between age 4-85
In conjunction with full scale IQ testing can differentiate domains of difficulty - can use to diagnose Specific Learning Difficulty
Give examples of a specific learning disability?
Dyslexia
Dyspraxia
Dyscalculia
Dysgraphia
Disblity with working memory/executive funcitoning
Contested: Central auditory processing, sensory processing disorder (more just labels for symptoms that co-exist in other disorders, they instead need speech, language and psychometric assessments)
Describe the difference between disability and difficulty as it pertains to learning
Difficulty - under achieve for wide range of reasons (sensory/behavior/absent/emotional/SES)
Disability- Unexpected (per other domains) and persistent (despite interventions) difficulties in specific areas as result of underlying neuro developmental disorder
A child presents as “clumsy” and you suspect Developmental Co-ordination Disorder - What DDx, What O/E to perform?
Dx via physio assessments - formally Griffiths now Peabody or Bruinisk/Odertesky
DDx
Anterior horn Cell - SMA
Peripheral nerves -CMT
Neuromuscular junction - Juvenile myasthenia
Muscle - DMD, Congenital myopathy, Congenital muscular dystrophy, Myotonic dystrophy
Reflexes
Gowers
Perthes disease
Gender preference?
Age of pres?
Mx?
Boys 5:1
Age 4-9
Rest, analgesia, rarely femoral osteotomy, older kids GAMP to keep epiphysis within acetabulum
X-ray flattened femoral head
Bone scane/MRI for early changes
Rheumatic Fever - Joint Pain pattern?
Migratory - 1-2/7 per joint Knee and Ankle joints - asymmetric Intense Pain out of keeping with expectation (As compared to oJIA for example) Responds well with NSAIDS Lasts less than 3/52
Rotavirus - Risk of Intuscception from vaccine?
Faecal lymphocytes?
Proteins involved
1:20,000 - 100,000
NO - Think bacterial if present
NSP 1, NSP 4
Perthes:
Typical age
Associations
5-7 (but 3-12) HIV SLE GCS CKD Gaucher
Bilateral in 10%
NAIT Anti Platelet antibodies?
Caucasians
HPA - 1A
HPA - 5B
Asian
HPA -4
T1DM Antibodies
Anti Insulin IAA - 1st appearing, 70%, fades with age/inversely proportional
Anti Islet Cell ICA - 70-90%
Anti Glutamic Acid Decarboxylase - GAD 80%
Anti Protein Tyrosine Phosphatease IA-2A 55-75%
B12 Visual Mnemonic
Cobalt - Cobalamin
Parrot - PARIETAL CELL - SPITTING ACID and INTRINSIC FACTOR, Gastric Epithelial
Glycoprotein - Intrinsic Factor - COGWHEEL
VACUUMING CHILD - END OF TUBE is TERMINAL ILLEUM sucking in B12 and IF
cf. Folate in Jejunum absorption
Cow’s and Pig’s mobilze gut bacterium for B12
Metal on Table - METAL EYE - METHIONINE-Synthase
Catalyses regeneration of methionine from homocysteine
THF -> gives a methyl group
Young boy breaking Millenium Falcon with Croquet
- Methylmalonyl-CoA Mutase - converts MMA-CoA to Succincyl Co-A for Haem synthesase or Citric acid pathway
Proprionic Acidemia Mnemonic
Han breaking out MMA
Propeller Acid - Propionic Acid - BUILD UP OF ACID
DEFECT in Propionyl-CoA Carboyxylase - Cardboard box and Croquet.
Millenium Falcon stuck in acid - Methylmalonic Acid
Propionyl-CoA then interconverts into PROPIONIC ACID
and DECREASED Methymalonic Acid (Because enzyme deficient)
(MMA also measured for B12 deficiency, where it is increased due to failure of next enzyme MMA->Succincyl-Coa)
Autosomal Recessive
Infant- Hypotonic Guard
Hepatomegaly
Sheaking vat, seizures
Xeroderma Pigmentosum - Mnemonic
XEROX Copier
NUCLEAR Powered - Nucleotide excision repair (For UV light)
vs. Base excision repair
UV Black Light
10c Dimes, TT- Dimers, Kinks, blocks replication, NER Fixes in healthy patients - XPA, XPB, XPC, XPD, XPE, XPF, XPG.
Extreme sensitivity to UV light
- OUTRAGEOUS sunburns with brief exposure
- Early Skin Cancer +++
Corneal ulcers
Woods Lamp
Enhances EPIDERMAL pigmentation (Not dermal)
Hypopigmentation (ASH LEAF MACULES) - Sharp borders, fluoresces blue/white or yellow/green vs. reduced blood flow (no change)
Porphyria - Red-pink fluoresnce of skin
Teeth - Erythpoetic porphyria
Tetracyclines fluoresce on skin after oral therapy
Tine - blue/green Capitis
Malassize (Including pityriasis versicolour)
Eating Disorder - Criteria for AN?
Prevalance = 1%
Loss of weight (If not to below expected then ‘atypical AN’)
Intense fear or PERSISTENT BEHAVIOURs to avoid weight gain
Undue experience/Self Evaluation of weight/fat
Eating Disorder - Treatment for AN
Family Based Therapy - Maudsley
1) Weight restoration, parent=parent, kid=kid, parent in control
Parent supervises HITH style all feeds until 85% weight
Weekly for 4/12
Siblings support distress
2) Adolescent transition
Adolescent gradually given control
Parents/siblings fade
Fornightly for 2/12
3) Adolescent issues
Time to address the other co-morbid shit put to the side
Monthyl
//
VS.
CBT for Eating Disorders (CBTe)
3 x 50 minutes with view to formulation of individuals psychopathology- ADDRESSES YOUNG PERSON
//
Antipsychotics for extreme meal distress
SSRIs for comorbid depression/anxiety only
Bulimia Nervosa - Prevalance/Dx
2-3%
Losing control with compensatory behaviours
Self evaluation
Causes of ARFID?
Avoidant Restrictive Food Intake Disorder
/
Phobia - Fear of vomit/choking
Somatising - Too many other stressors so ‘feels full’
ASD/Fussy Eating
// FBT - UP (Unified Protocol) + Address underlying cause
8 Core Principles of addressing anorexia?
- Agnostic to cause
- Separate client from “The Anorexia”
- Privildge the family’s resourcefulness
- Hospital is temporary
- Target “THE ANOREXIA” not the other family conflicts, come together for this
- Structural CHANGE to defeat
- Therapist resists expert role, transfer to parents
- Medical needs> adolescent needs
Admission Criteria for AN?
HR< 50 or >30bpm increase postural BP <80mmhg or 20mmHg drop postural Weight <75%, or >10% in 3/12 HypoK <3.0 Hypothermia <35.5 QtC >0.45
Risk of vertical transmission in HBV?
If mum is HbE +ve (Or viral load high)
Then 90% untreated, 5% if HB-IG and HB-Vac
If HbE-Antigen -ve and treated then 1%
Rate of cCMV
congenital-CMV
1:500
Roughly equal contribution from 50% population seronegative who acquire (2%) and 50% population seropositive who reactivate (10%)
Antipsychotic Drugs - Which receptors?
Antidopaminergic - block D2 receptors
Causes parkinsonian symptoms
Anticholinergic ‘
Neuroleptic malignant
Haematological
Rashs
Skin Pigment
Risperidone?
Good to treat subacute aggression/irritability with psychotic symptoms
Olanzapine - good for use with?
Effects
Overt aggression with psychosis
Good for sedation and strong mood regulating
Also 1st line manic bipolar
AVOID in RENAL FAILURE
Quetiapine?
Second generation (Between SSRI and Antipsychotic) Antipsychotic with serotonin enhancing properties
Good for sleep
Good for anxiety
Bigger dose at night (sleep)
Smaller at day (anxiety)
Ziprasidone?
Second generation antipsychotic,
Not that effective but:
NO WEIGHT GAIN - doesn’t cause weight gain
Clozapine
Second Line (So if doesn’t improve with initial antipsychotic)- Second generation antipsychotic
Associated with CARDIOMYOPATHY
- So have to do an echo
Associated with agranulocytosis - 1%
Cf. Olaznapine 0.5%
Quetiapine 0.6%
Risperidone 0.3%
Aripiprazole
Prominent mood problem with pyschosis
ADHD + psychosis
Or for delerious PICU patient
“Third Generation Antipsychotic”
Treatment/Antidepressants for Depression?
Brief Intervention - works about 30%
CBT/IPT works about 55%
If inadequate response then intensify CBT/IPT
If no response then :Antidepressant - SSRI Fluoxetine - continue for 12/12 before
Vitamin E deficiency - symptoms?
Progressive Ataxia
Retininitis Pigmentosis
Spinocerebellar and dorsal columns (Mimics B12)
Loss of antioxidant function for RBC - haemolytic anaemia, ancanthocytes, bilirubin gallstones
Vitamin E = Tocopherols
Fat soluble vitamin
Vitamin E Excess - Excess Warfarin anticoagulation
Vitamin A deficiency?
Vitamin A excess
HAY (Vitamin A) Scene
DEFICIENT
Night Blindness
Conjuinctival “foamy” spots (due to specialised epithelial signalling)
Corneal liquifaction (Carrot - Cream)
Dry scaly skin - follicular hyperkeratosis and loss of sebaceous gland
Immunosuppression for T-cell maturation
EXCESS Raised ICP Papilloedma Teratogen ++ (Cleft, Cardiac - TGA/TOF) Dry skin ++ Hepatomegaly
Kleinfelters - Vmnemonic
What genes What cells What hormone What signalling What phenotype
Kleinfelters = Clean Filters
47 XX - Two X wrenches, BROKEN Bar (Barr body inactivation)
Sertoli (certificate), curled up tubes, seminiferous tubules (Hyalizined) and Leydig (ladybug) both less functional, may have leydig pseudoadeonmatous clusters
Low TESTOSTERONE (Aka Lestosterone from Leydig cells)
And
HIGH esTROJAN horse from Sertolis
High FSH (Fish) and High LH (Lute)from low T -> feedback
Tall, skinny/slender low muscle mass men, testicular atrophy, gynecomastia
Infertile, degenerative seminiferous and azoospermia
Osteo Sarcoma - Visual Menomic?
Bony Shark (OsetoSarcoma)
Bruce LI FRAUMENI kicking over a cement mixer (Osteoid Tumour)
Old man with a glass eye (Retinoblastoma) and a peg leg (Knee brace, knee predilection (Femur/Tibia) and metaphyseal (as in adjacent to the physeal line where bone growth happens)
Codman’s triangle on sailing ship - lifting periosteum
Sunburst pattern - Perpindicular rapid growth
Falling ESR despite cracking fever?
Consider low fibrinogen - consumed by HLH or DIC or Macrophage Activation Syndrome - as Fibrinogen required for ESR assay
Vignette: 4yo Boy Fever Splenomegaly Cytopaenias EBV Positive - big nodes LFT deranged
Consider HLH - Especially XLP - X-linked lymphoproliferative - Slam Associated Protein - SAP (Crucial to activate cytotoxic NK and CD8 cells)
Abberant IFN gamma signalling
Macrophages activated +++
What is primary HLH?
Haemophagocytic Lymphohistiocytosis
- Macrophages gone crazy due to failure of normal cytotoxic cells to clear a viral infection - That is failure of NK and CD8 cells
- Problems with granules - function, trafficking, delivery
Perforin UNIC13D STXBO2 STX11 Albinisms// Griscelli RAB 27a Chediak Higashi - LYST XLP1 - SAP - SH2D1A XIAP- XLP2 - BIRC4
Where does EBV lay dormant?
In B - cells
Its HHV4
The body needs the help of CD4 then cytotoxic function of CD8 and NK to clear the infected B cells
Erythema Toxicum
Which day
What does Bx show?
Day 2
Full of eosinophils
Rash at 6/52 of age?
Forehead
Looks like acne?
Called milk spot, or neonatal acne but:
Pityrosporum
Seborrheic folliculitis, sebaceous glands starting to settle - crisis for flora, pustules, symmetrical
Natural history - resolution
Dilute ketoconazol 2% 1:10 and apply daily
What is cradle cap?
What age makes you think of something else?
Greasy (Seborrhoeic) scale, not puruitic, analgous to dandruff
Use soap substitute, olive oil, bath oil,
DDx -Scalp ECZEMA if >3/12
Eczema scale is harsher, mor epuritic - dry harsh scale - use ointments - no role for anti yeast
Perineal protrusion in neonate?
IPPP - infantile perineal pyramid protrusion- resolves
Nappy rash that isn’t settling - what is best barrier cream?
COVITOL Cod liver oil in zinc cream
Bepanthan
Plain zinc
Also if cost barrier, can prescribe via olive oil 10% in zinc paste -1kg, 5x repeats.
Or 1% hydrocortisone ointment
Add in antifungal if suspicios - swab for growth
Nappy rash and flexure involvement
Napkin Psoriasis
Erytherma Multiforme?
Not urticaria
Needs a bullseye breaking the skin
Zinc deficiency in infants
A)Inherited - genetic = acrodermatitis enteropathica
Autosomal recessive, failure of absorption, breast milk protective, presents post weaning
B) Acquiried Multifactorial Prematuritis Malabsoprtion Some mums have low zinc in breast milk
// Sharply demarcated, eroded - peeling skin Around fingertips/nappy/lips Hair loss MISERABLE Immunosuppression Cognitive/motor delay
// No good Ix for Zinc stores (cf. ferritin) Low alk phos 1-2mg/kg/day DDx - metabolic conditions with acidosis
Perioral dermatitis?
Periorofacial rosacea
Spares immediately next to lips - pustular
Occurs on withdrawal/rebound from topical steroids
Drug eruption?
Widespread eruption, macular, diffuse, symmetrical
DDx viral exanthem
Not to be confused with ‘fixed drug eruption’ - circular, post inflammatory pigmentation, recurs/flares with medication
Erythroderma - how much of skin>
Complications
90% of skin Psoriasis Eczema Drug eruption Lymphoma/Leukaemia
Red all over is significant metabolic impact
Can High output cardiac failure
Can dehydrate
Can de-nutrition incl Fe, protein
Is erythema multiforme on the SJS-TEN Spectrum?
Not the same as
SJS/TEN worse
Erythema multiforme - which are targets with epidermal disruption/blister to central target - but won’t coalesce
May have a focal oral lesion “target lesion in mouth”
SJS/TEN?
Widespread detachement of full-thickness epidermis
Drugs - sulfonamides, anticonvulsants (Phenytoin, Phenobabitone, Carbemazepine)
Infection
Autoimmune
Prodrome - 2 days to 2/52
Fever, URTI, Milk to moderate skin tenderness
Conjunctivitis/mucositis
Signiifcant loss of skin
Differ TEN from Staph Scalded Skin?
No MUCOSAL lesions in SSSS
More superficial (Subcorneal) in SSSS rather than subepidermal
More tender in SSSS
Bullous impetigo vs. staph scalded skin
Bullous impetigo is local from toxin
Staph SS is Toxinemic
Think umbi stump first week
Parvo B 19
Can cause 3 rashes?
Slapped cheek first
Fine lacy reticular rash to arms - immune complex phenomenon - evanescent for 2/52
Purpuric glove + stocking
Hand foot and mouth
What does rash look like?
In what way is HSV different?
Classic” Oval grey blisters palm, soles, mouth,
CoxsackieA 16
SYMMETRICAL (cf. HSV)
Widespread brown scabbign to perioral extremeties and nappy
Polymorphic in nature (cf HSV)
Can be blistering, look purpuric
Manifest stronger where eczema present “eczema coxsackium”
Kawasaki Disease
Fever and rash relationship from dermatology lecture?
Fever stays high with rash unlike many milder viral which improve at time of rash apperance
Palms and sole involvement rare in normal virus
Eye redness spares RIM aroudn pupil - ocular injection
Eruption of skin non-specific but often accentuates perineal/groin
DRESS ?
Drug reaction Eoisonphils Syndrome
2-6/52 into Rx - ESPECIALLY ANTIEPELEPTICS
commencement
Fever
Lymphadenopathy
Variable rash
Commonly involves other organs - hepatitis/nephritis
FBE - atypical lymphocytosis that PROGRESSES TO EOSINOPHILLIA
Measles - which day does rash appear?
Measles rash on DAY 4 - T-Cell mediated
Kough, Koryza, Koryza with fever BEFORE Rash
Food allergy urticaria timecourse?
Less than a couple of hours
Starts on head and neck
Antihistamine - What ages are ok?
Best prophylactically
From 6/12 can use non-sedating
From 24/12 can use sedating
Antihistamines WON’T affect rash of urticaria - just itch and elevation of wheal
Vs.
PRED which will CLEAR urticaria if sufficient dose
Pityriasis Rosea?
Seasonal variations - therefore ?infectious trigger
Proximal joint
Herald patch in 80%
Long axis is “inverted christmas tree”
Free edge in internal - i.ie CENTRAL scale — cf. Fungal with scale at edge of lesion
Lasts 3-6/52
Rx
Topical steroids not very good
Sunlight/UVB very useful
?Erythyromycin
Unilateral laterothoracic exanthem// asymmetrical periflexural exanthem
?
Discrete erythematous in hip or axilla then spread ipsilateral or over trunk
Scaly eruptions
Lasts weeks
Giannotti-Crosti Syndrome
Or Papupal acrolocated syndrome
Age 6/12 to 12 yrs
Urticaria like papules on limbs/buttocks/face - outer cheeks
spares trunk
Monomorphic for patient “Papulo-vesicles”
Lasts weeks 6/52
No Rx required
Not contagious
Eczema?
is it chronic?
Patterns
Tendency to sensitive skin “degree of atopy”
Triggered - multifactorial, shouldn’t be “chronic” - aim is to have no eczema most days.
Triggers - heat, dry, irritants
Think environmental if age>2 , distributed with exposed areas, HDM< grass pollen, animal dander - SPT and RAST (as well as total IgE)
Food allergen <1yo, widespread, unsettled, associated GIT or FTT, reactions to food
Whats the relevance of total IgE in interpreting RAST testing?
An elevated total IgE in the thousands due to raging HDM allergy (for e.g.) will give moderate FALSE positives for anything you examine, due to non-specific binding nature of IgE
If negative total IgE then unlikey to have a type 1 allergy
Perioral dermatitis after eating favourite foods?
Food intolerance -
Salicylates/Amines
Delicious
Vasoreactive
Tomatoes/strawberries/cirtus/watermelon/soya/acidi preservaive
Natural Hx grows out of
Juicy plaques in non-atopic individual
Discoid/Nummular eczema?
Vicious cycles
Needs potent topical steroids and antibiotics
Wet dressing
Sunlight / UVB
MYTHS OF TOPICAL STEROIDS
- What things DOESN’t it cause?
1 Skin thinning
2 HPA Access
3 In setting of infection
4 Striae
5 Allergic contact dermaitits
6 Osteopaenia
7 Ocular effects - if eyelid hydrocortisone ok for long term, more potent for short burst
- Or pimecrolimus
Hypertrichosis - discoid eczema only, short term
Hypopigmentation - secondary to eczema/inflammatino
Purpura/telengectasia
DOSAGE is insufficient - i.e. a tube a week of methylpred in a 6/12 old is fine
DISEASE causes all this stuff
Or is TRANSIENT only
BUT:
CAN irritate periorifacial dermatitis/rosacea - rim sparing pallor, papules, rebound side effect - cortisone asthma spray/nasal if mask used
Rx with oral antibiotics - erythromycin, bactrim, or tetracyclines if oldre - may take years
PRESCRIBE AUTHORITY QUANTITY
do not write “sparingly”
Get it CLEAR
Azathioprine - MoA/commencement/side effects
- For eczema?
Purine inhibitor
Check Thiopurine MethylTransferase (TPMT) prior to start, as some people can’t metabolise
Start at 1/4 dose and get to full by 8/52, expect therapeutic effect at 12/52
GI - nausea/vomting
Bone marrow - lymphocytes - aim 1.0-1.5
Allergic contact dermatitits - what to treat it with?
Known trigger, unlikely to recur, antihistamines most helpful PRIOR to exposure/prophylaxsis
Therefore give steroids - ORALLY - but also throw in some topical
Ulcerated haemangioma Rx?
Bactroban/fucidin
Metronidazole
xylocaine jelly
Big mixed up dollop on top
Then occlusive dressing - like tegaderm,
Prevent with nappy rash cream +++
Haemangiomas to worry about?
PHACES
Posterior Fossa
Haemangioma - Big, segmental - i.e. stops at
Arterial anomalies
Cardiac + Coarct
Eye abnormalities/ endocrine abnormalities
BEARD distribution (2/3rd involve airway)
Visual field/periocular (refractive due to pressure)
Ulcerating/disfiguring
Advice with propanolol for haemangioma?
STOP WHEN FEEDING STOPS - PAUSE DURING ILLNESS - hypoglycaemia risk
Can start at 1mg/kg/day - then to 2mg/kg/day mostly, increase up to 3mg/kg/day if eye saving
Continue until achieve agenda
Don’t need to increase with weight or titration to 2mg/kg if having adequate effect
5% Sleep disturbance - +/- Atenolol
Time for skin prick testing after drug reaction?
At least 4-6/52 after last reaction as you may have depleted all the IgE specific on those mast cells and need to regenerate - risk of false NEGATIVE
Anti TNF Alpha drugs - Main thing to thing before commencing?
Screen for TB
In which pH do various urine stones form?
They form in acid excelpt for CALCIUM PHOSPHATE.
SO ALKALINIZE; unless CaPO4
Cortisol Levels - When highest, when lowest?
Highest at 0800 - screen for insufficiency - confirm with synACTHen
Lowest at 2400 - screen for excess with saliva - confirm with 24/24 urinary cortisol and/or Dexa suppression
Why risperidone in intellectual disability?
Injurious/aggresive behaviour
Why clonidine?
What is it?
Treats Tics
Treats hyperactivity/aggression/dyssomnias
Alpha2 adrenergic agnoist
Ossification centres of the elbow?
CRITOE, 1, 3 , 5, 7 ,9, 11 Capitellum Radial Internal epicondyle Trochlear Olectranon External epicondyle CRITOE
Pertussis Treatment -
Pertussis Prophylaxsis -
Macrolide (Azithro/Clarithro) - Bactim if CI
antibiotic for index with <14 day cough (<21day if <6 months)
Then ALL household if a <6/12
and ALL childcare if <6/12 in same room
Risk of Neural Tube Defects?
15: 10,000 conceptions, 2:10,000 live births
Risk 1:25 if parent has NTD, 1:50 if sibilng has NTD
Mother on antiepileptic - valproate and less so carbemazepine
Diabetes Mellitus in mother
Folic acid at 5mg
Symptoms of tethered cord?
Which age?
Which group of patients
Due to traction of nerves
In puberty due to growth
Neural tube defect patients
Bladder, bowel Sx
Foot position
Back or lower limb pain
Greatest historical risk of death in neural tube disorder?
Renal failure - obstructive due to neurogenic bladder
Now from birth daily or more CIC unless demonstrate non-contractile/high pressure system
Options to preserve renal function in neurogenic bladder
Rx
CIC (Risk of LATEX allergy)
anticholinergics (Oxybutynin/Ditropan) to reduce detrusor hyper-reflexia
Surg:
Botox
Vesicostomy/Urinary diversion
Mitoffanoff (appendix conduit bladder to umbilicus)
Precocious puberty - age definitions and risk of brain tumour
Girls, <8yo, 5% risk tumour
Boys, <9yo, 70% risk tumour
Puberty onset and timing of growth spurts
Male -from 9; average 13 - growth at 15
Girls from 8, average 11 - growth at 11
4 week old infant with hypocalcemic seizure?
Two differentials
Hypoparathyroidism
Infant of severe vitamin D def. mother
Scrotal pigmentation in a caucasian newborn?
Congenital Adrenal Hyperplasia. Expected vomiting/dehydration/collapse/death day 8-14
Noonans - physical characteristics:
“Male Turners”
Webbed neck, down turned palpebral fissures, wiry hair, down turned mouth
Autosomal Dominant
PTPN11 Mutation
Midline defects
Hypertelorism Dimpled nose Central cleft lip/palate Bifid uvula Central incisor in upper
Thyroid
Cardiac
Gonadal
Malrotation of gut
CHARGE
Phenotypic shape of coeliac disease in 2-3 year old?
Big abdomen, skinny arms and legs, short stature
Low grade glioma - Whats the prognosis Whats the treatment Whats the genetics Any novel Rx?
Cystic changes on MRI
Good prognosis - most common CNS tumour in kids, 90% survival
If resectable - cure
If unresectable, chronic disease
18/12 of gentle CTx (Vincristine/Carboplatin)
Often relapse and re-dose
Single pathway - MEK1/2 as final common
Therefore MEK inhibitors, orally active selumetinib, trametinib, cobimentinib
DIPG - tumour
Most common high grade brain tumour
Incurable
Diffuse - ill defined spreading mass around the pons -
Short duration prior to presentation 2-6/52 -cranial nerve or long tract signs
Dead within a year
Whats the relevance of small round blue cell tumours?
They are embryonal - so all the embryonal tumours “Blastomas”
Ewings
Neuroblastoma
Medulloblastoma
Medulloblastoma
Most common MALIGNANT CNS in paeds
20% of brain tumours
Peak at 4 years
“Dull appearance of MRI - densely packed, full of nuclei, not full of cysts, “
2-6/12 of signs
Obstructive hydrocephalus
Cerebellar dysfunction
Average risk - M0 and mostly resectable (<1.5cm^2) - 80% cure
High risk - M1-4 or big residual 70% cure
Group 3 is terrible
Post surgical - cerebellar mutism in 25%, irritable, emotional lability, cranial nerve, resolves in months
Chemo and radiation
Terrible if relapse
Plenty of side effects
What is Gorlin Syndrome?
Association with medulloblastomas and propensity to BCC - hugely so following craniospinal irradation
Also some bony/cartilage stuff - syndactyl, ears, calcified falx, palmar pits
Radiation therapy side effects?
Terrible if <3 years old due to poor future cognitive development
Otherwise: Endocrine - Growth Hormone Spinal growth less Secondary Malignancy - brain tumours IQ and learning (less if >10 years old) Vasculopathy and stroke
Hearing dysfunction - Tiers of investigation?
Tier 1 - MRI for uni/bilateral CMV Testing - urine/saliva if young, otherwise Guthrie Gene for Connexion26 Visual Acuity Family audiograms
Tier 2 Genetic WES/Micro ECG - for Long QT1 homozygote- Jervel Lange Nielsen Thyroid Fx - ?Pendred Urine micro - ?Alports Opthal - Usher Renal U/S - ?Branchio/oto/renal syndrome Metabolic if matrilineal inheritance/regression
Ritalin - MOA
Dopamine and Noradrenaline reuptake inhibitors
Atomoxitine (Strattera) MOA
Noradrenaline reuptake inhibitor
Steady state effect
