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Gen Paeds Flashcards

1
Q

You can be diagnosed with intellectual disability and a specific learning disability? (T/F)

A

False

Criterion for an SLD is to NOT have ID - i.e. IQ<70

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2
Q

You can be diagnosed with autism and a specific learning disability? (T/F)

A

True - SLD can co-exist with autism or ADHD, as long as IQ >70

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3
Q

What age range is the WPPSI appropriate for?

A

Wechsler preschool and primary scale of intelligence

2.5 - 7 years 7 month

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4
Q

Appropriate age range for the WISC?

A

Weschler Intelligence Scale for Children
Age 6 yr to 16 yr

$500-$1000 for psychometric testing?

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5
Q

Wechsler Individual Achievement Test

Whats it for?

A

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

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6
Q

Give examples of a specific learning disability?

A

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)

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7
Q

Describe the difference between disability and difficulty as it pertains to learning

A

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

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8
Q

A child presents as “clumsy” and you suspect Developmental Co-ordination Disorder - What DDx, What O/E to perform?

A

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

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9
Q

Perthes disease

Gender preference?

Age of pres?

Mx?

A

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

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10
Q

Rheumatic Fever - Joint Pain pattern?

A 
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
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11
Q

Rotavirus - Risk of Intuscception from vaccine?
Faecal lymphocytes?
Proteins involved

A

1:20,000 - 100,000
NO - Think bacterial if present
NSP 1, NSP 4

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12
Q

Perthes:
Typical age
Associations

A 
5-7 (but 3-12)
HIV
SLE
GCS
CKD
Gaucher

Bilateral in 10%

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13
Q

NAIT Anti Platelet antibodies?

A

Caucasians
HPA - 1A
HPA - 5B

Asian
HPA -4

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14
Q

T1DM Antibodies

A

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%

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15
Q

B12 Visual Mnemonic

A

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

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16
Q

Proprionic Acidemia Mnemonic

A

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

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17
Q

Xeroderma Pigmentosum - Mnemonic

A

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

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18
Q

Woods Lamp

A

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)

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19
Q

Eating Disorder - Criteria for AN?

A

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

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20
Q

Eating Disorder - Treatment for AN

A

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

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21
Q

Bulimia Nervosa - Prevalance/Dx

A

2-3%
Losing control with compensatory behaviours
Self evaluation

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22
Q

Causes of ARFID?

A

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
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23
Q

8 Core Principles of addressing anorexia?

A
  1. Agnostic to cause
  2. Separate client from “The Anorexia”
  3. Privildge the family’s resourcefulness
  4. Hospital is temporary
  5. Target “THE ANOREXIA” not the other family conflicts, come together for this
  6. Structural CHANGE to defeat
  7. Therapist resists expert role, transfer to parents
  8. Medical needs> adolescent needs
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24
Q

Admission Criteria for AN?

A 
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
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25
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%
26
Rate of cCMV
congenital-CMV 1:500 Roughly equal contribution from 50% population seronegative who acquire (2%) and 50% population seropositive who reactivate (10%)
27
Antipsychotic Drugs - Which receptors?
Antidopaminergic - block D2 receptors Causes parkinsonian symptoms Anticholinergic ‘ Neuroleptic malignant Haematological Rashs Skin Pigment
28
Risperidone?
Good to treat subacute aggression/irritability with psychotic symptoms
29
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
30
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)
31
Ziprasidone?
Second generation antipsychotic, Not that effective but: NO WEIGHT GAIN - doesn’t cause weight gain
32
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%
33
Aripiprazole
Prominent mood problem with pyschosis ADHD + psychosis Or for delerious PICU patient “Third Generation Antipsychotic”
34
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
35
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
36
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 ```
37
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
38
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
39
Falling ESR despite cracking fever?
Consider low fibrinogen - consumed by HLH or DIC or Macrophage Activation Syndrome - as Fibrinogen required for ESR assay
40
``` 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 +++
41
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 ```
42
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
43
Erythema Toxicum Which day What does Bx show?
Day 2 | Full of eosinophils
44
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
45
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
46
Perineal protrusion in neonate?
IPPP - infantile perineal pyramid protrusion- resolves
47
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
48
Nappy rash and flexure involvement
Napkin Psoriasis
49
Erytherma Multiforme?
Not urticaria | Needs a bullseye breaking the skin
50
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 ```
51
Perioral dermatitis?
Periorofacial rosacea Spares immediately next to lips - pustular Occurs on withdrawal/rebound from topical steroids
52
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
53
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
54
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”
55
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
56
Differ TEN from Staph Scalded Skin?
No MUCOSAL lesions in SSSS More superficial (Subcorneal) in SSSS rather than subepidermal More tender in SSSS
57
Bullous impetigo vs. staph scalded skin
Bullous impetigo is local from toxin Staph SS is Toxinemic Think umbi stump first week
58
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
59
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”
60
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
61
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
62
Measles - which day does rash appear?
Measles rash on DAY 4 - T-Cell mediated | Kough, Koryza, Koryza with fever BEFORE Rash
63
Food allergy urticaria timecourse?
Less than a couple of hours | Starts on head and neck
64
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
65
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
66
Unilateral laterothoracic exanthem// asymmetrical periflexural exanthem ?
Discrete erythematous in hip or axilla then spread ipsilateral or over trunk Scaly eruptions Lasts weeks
67
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
68
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
69
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
70
Perioral dermatitis after eating favourite foods?
Food intolerance - Salicylates/Amines Delicious Vasoreactive Tomatoes/strawberries/cirtus/watermelon/soya/acidi preservaive Natural Hx grows out of
71
Juicy plaques in non-atopic individual
Discoid/Nummular eczema? Vicious cycles Needs potent topical steroids and antibiotics Wet dressing Sunlight / UVB
72
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
73
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
74
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
75
Ulcerated haemangioma Rx?
Bactroban/fucidin Metronidazole xylocaine jelly Big mixed up dollop on top Then occlusive dressing - like tegaderm, Prevent with nappy rash cream +++
76
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
77
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
78
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
79
Anti TNF Alpha drugs - Main thing to thing before commencing?
Screen for TB
80
In which pH do various urine stones form?
They form in acid excelpt for CALCIUM PHOSPHATE. SO ALKALINIZE; unless CaPO4
81
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
82
Why risperidone in intellectual disability?
Injurious/aggresive behaviour
83
Why clonidine? | What is it?
Treats Tics Treats hyperactivity/aggression/dyssomnias Alpha2 adrenergic agnoist
84
Ossification centres of the elbow?
``` CRITOE, 1, 3 , 5, 7 ,9, 11 Capitellum Radial Internal epicondyle Trochlear Olectranon External epicondyle CRITOE ```
85
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
86
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
87
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
88
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
89
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)
90
Precocious puberty - age definitions and risk of brain tumour
Girls, <8yo, 5% risk tumour | Boys, <9yo, 70% risk tumour
91
Puberty onset and timing of growth spurts
Male -from 9; average 13 - growth at 15 | Girls from 8, average 11 - growth at 11
92
4 week old infant with hypocalcemic seizure? Two differentials
Hypoparathyroidism Infant of severe vitamin D def. mother
93
Scrotal pigmentation in a caucasian newborn?
Congenital Adrenal Hyperplasia. Expected vomiting/dehydration/collapse/death day 8-14
94
Noonans - physical characteristics:
“Male Turners” Webbed neck, down turned palpebral fissures, wiry hair, down turned mouth Autosomal Dominant PTPN11 Mutation
95
Midline defects
``` Hypertelorism Dimpled nose Central cleft lip/palate Bifid uvula Central incisor in upper ``` Thyroid Cardiac Gonadal Malrotation of gut CHARGE
96
Phenotypic shape of coeliac disease in 2-3 year old?
Big abdomen, skinny arms and legs, short stature
97
``` 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
98
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
99
Whats the relevance of small round blue cell tumours?
They are embryonal - so all the embryonal tumours “Blastomas” Ewings Neuroblastoma Medulloblastoma
100
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
101
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
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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 ```
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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 ```
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Ritalin - MOA
Dopamine and Noradrenaline reuptake inhibitors
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Atomoxitine (Strattera) MOA
Noradrenaline reuptake inhibitor | Steady state effect

RACP Gen Paeds (1 decks)

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