Clinical - Shorts Flashcards

Question

Long PR

Answer 1

Normal (Vagal) Rheumatic heart disease Myocarditis AVSD, ASD, Ebstein Compare to age matched table

Answer 2

WPW DMD Friedrichs ataxia Normal Compare to age matched tables

Answer 3

STE with upright T waves | STD with negative T waves

Answer 4

``` ASD/VSD/AVSD repair Tetralogy repair (likely PS murmur at ULSE) Arterial switch TAPVD repair Fontan no fenestration ```

Answer 5

Basically palliative procedure for complex congenital cyanotic disease. Shunt. ``` “Palliative surgery for cyanotic congenital heart disease, this may be a staged procedure and patient remains blue” Shunted circulations Tetralogy / Pulmonary atresia Single ventricle with PS Norwood procedure TGA / LVOTO Single ventricle lesions (no shunt) “Many complex heart lesions may lead to single ventricle physiology” “Palliative surgery in many stages” Bidirectional cavopulmonary shunt Fontan with fenestration ```

Answer 6

= staged palliation of a univentricular system (palliative as opposed to corrective) • 1 = modified BT shunt (3 days) • 2 = BCPC (SVC -> pulmonary artery) (3 months) • 3 = Fontan (3 years) - connect IVC to PA At 3 days get a BT shunt (pulmonary pressure too high to have a veno-PA shunt hence need an arterio-PA shunt until pulmonary pressures drop). These children are extremely fragile as high likelihood of shunt blockage. 20% mortality before 3 months. Hence very unlikely to be in the exam. • At 3 months get BCPC (AKA Glenn). Performed once pulmonary pressures drop. SVC to main PA. Can’t connect IVC at this point because there would be too much pulmonary blood flow. • 3 years get definitive Fontan (SVC and IVC now connected to PA) • In mid-late teen years get a transplant Complications of Fontan: • Chylothorax and pleural effusions are very common complications. • Protein losing enteropathy common (and is an indication for transplant) • Strokes – post-fontan all patients are on warfarin to prevent paradoxical embolus and stroke • Cerebral abscesses

Answer 7

Increased: VSD, TGA, TA, TAPVD o Decreased: ToF, PA, TA, critical PS, Ebsteins o (If the patient is blue they will have poor vascularity (dark lung fields) cf L-R shunt will have plethoric lung fields)

Answer 8

a) Birth → +60 to +180 degrees b) 1 year → +10 to + 100 degrees c) 10 years → +30 to +90 degrees d) Also check p-wave axis (should be ↑ or +ve in avF/II/III)

Answer 9

* MR or MS * Cardiomyopathy * Large VSD/PDA

Answer 10

ASD, TR, TA, PA, Pulm HTN, ToF, TAPVR/PAPVR, severe PS

Answer 11

``` ↑ LV overload Aortic stenosis Mitral insufficiency VSD PDA ```

Answer 12

``` ↑ RV over-load Pulmonary valve stenosis Tricuspid insufficiency Pulmonary HT VSD (L → R shunt) ```

Answer 13

``` Tricuspid atresia ASD (primum) PS in Noonan’s esp if HCM Endocardial cushion defect Single ventricle LVH esp with volume overload Ebsteins WPW L-TGA ```

Answer 14

ASD (secundum) | RBBB

Answer 15

``` L-TGA (corrected TGA) Polysplenia syndrome AVSD Ebstein’s Acute rheumatic fever Congenital heart block with maternal SLE ```

Answer 16

``` LBBB RVH L-TGA HOCM Infarction ```

Answer 17

Partial ASD Ebstein’s anomaly Complete Post right-ventriculotomy (repair of VSD, tetralogy of Fallot) Coarctation of the aorta (in infants<6mo) Endocardial cushion defects PAPVR Occasionally in normal children With left axis deviation → ostium primum ASD With R axis deviation → ostium secundum ASD With R atrial hypertrophy + delta waves → Ebstein’s Complete RBBB → post-ventriculotomy

Answer 18

Normal – I, V6 +ve | Dextrocardia – 1, V6 –ve with inverted QRS

Answer 19

Aorta connected to RV (for HLHS) so that RV becomes main systemic ventricle

Answer 20

``` 1. Static causes (No regression) o Cerebral Malformations o Chromosomal disorders o Intrauterine infection o Perinatal disorders o Antenatal toxins (alcohol, VPA, PHT) o Static encephalopathy with apparent regression (frequent seizures, AED side effects, depression, contractures, increased spasticity, progressive hydrocephalus) ``` ``` 2. Degenerative causes o Grey matter • Gangliosidoses (GM1, GM2 – i.e. Tay Sachs, Sandhoff) • Niemann-Pick o White matter • MLD • Krabbe (globoid cell leukodystrophy) • ALD ```

Answer 21

1. Hearing impairment 2. Infantile Autism 3. Bilateral hippocampal sclerosis

Answer 22

1. Ataxia 2. Hemiplegia 3. Paraplegia 4. Hypotonia 5. Neuromuscular disorders

Answer 23

``` Introduce Hands Unwell/well Growth Vitals Iatrogenic Dysmorphism Expose Pain ```

Answer 24

Birth-4mo Do: Light touch perioral area Reaction: Turn toward stimulation & mouth should open

Answer 25

Birth-4mo Do: gloved finger or nipple in infant’s mouth Reaction: coordinated, strong & symmetric suck

Answer 26

2-6mo Do: Rotate head to one side Reaction: Should adopt “fencing position” Reaction: Extension of ipsilateral limbs Reaction: Flexion of contralateral limbs

Answer 27

6mo-2yrs Do: Rotate head to one side Reaction: Trunk should rotate to same side

Answer 28

Birth-1.5mo Do: Touch feet to a flat surface Reaction: Alternating stepping motion

Answer 29

Birth-1.5mo Do: Contact dorsum of foot on edge of table Foot should lift & place on table’s surface

Answer 30

``` Stage 1 (4mo-2yrs) o Do: Lie prone o Reaction: Should extend head, trunk & hips Stage 2 (9mo-2yrs) o Do: Flex head & neck o Reaction: Should flex trunk & hips ```

Answer 31

Birth-4mo Position: Supine Do: Sudden downward mvmt of head & trunk Reaction: Symmetric extension & abduction of arms Reaction: Opening of hands Reaction: Then flexion of UL (embracing movement) Reaction: Then cries

Answer 32

9mo-persists Position: Prone Do: Move infant rapidly face downward Reaction: Extension of UL (to break fall) Look for asymmetry (hemiplegia)

Answer 33

BITCHM ``` B12 deficiency Infective -> post infectious e.g. GBS Tumour -> lymphoma, NF1 Chemotherapy -> vincristine Hereditary sensory motor disease (CMT) Metabolic -> diabetes ```

Answer 34

UMN - Brain (metabolic, genetic prematurity/PVL, stroke/vascular, infection, space occupying lesion) - Spine (spina bifida) LMN - Anterior horn (SMA - Peripheral nerve (B12, GBS, tumour, chemo, CMT, diabetes) - NMJ (myasthenia, botulism) - Muscle (congenital myopathy, muscular dystrophy)

Answer 35

``` C – congenital hepatic fibrosis H – haematological (thalassemia) I – infection (EBV, TORCH) M – malignancy (leukaemia, lymphoma) S – storage diseases (MPS) ```

Answer 36

``` Malignancy - primary hepatic - secondary deposit: neuroblastoma, Wilms, gonadal - vascular malformation (cavernous haemangioma) Infective - viral Hep A-E, echovirus - bacterial - parasitic (hydatid, schistosomiasis) Metabolic - CHO: GSD, HFI, galactosemia, Cushing syndrome - protein: tyrosinemia, UCD - fatty acid oxidation defect Inflammatory - chronic active hepatitis - IBD associated liver disease - A1AT Structural - EHBA, choledochal cyst, Alagille Cardiac - CCF, constrictive pericarditis, obstructued IVC Congenital - polycystic disease Copper - Wilson Malnutrition Trauma ```

Answer 37

``` Haem - hereditary spherocytosis, G6PD Bacterial - SBE - typhoid - septicaemia Portal HTN Masses - cyst - hamartoma - haematoma ``` Example spiel: H – haematological – such as HS, which is my leading differential as it causes splenomegaly in an otherwise well child I – infective such as EBV – however tends to cause hepatosplenomegaly and Matthew is afebrile and well in himself M – malignancy such as leukaemia however I’d expect to see other features to suggest thrombocytopenia or anemia P – Portal hypertension however there were no stimata of CLD today S – storage diseases such as MPS however Matthew does not have distinctive facial features

Answer 38

Hypersplenism -> thrombocytopenia Functional asplenism -> immunodeficiency, encapsulated organisms Splenic infarct -> tenderness Early satiety -> faltering growth

Answer 39

``` Primary biliary cirrhosis PSC (a/w IBD) AI hepatitis (ANA, anti smooth muscle antibodies, ANCA) Wilsons A1AT Congenital hepatic fibrosis (a/w PCKD) CF Chronic hep B/C ```

Answer 40

``` Tumour: Wilms, neuroblastoma, phaeochromocytoma Renal cyst RVT Hydronephrosis Hypertrophied solitary kidney ```

Answer 41

PCKD Metabolic: GSD, tyrosinaemia Hydronephrosis (PUV, VUR, neurogenic bladder) Tumour: Wilms, leukaemia, lymphoma, angiolipoma from TS

Answer 42

Infant - EHBA - A1AT - Alagille - Ex prem graduate of neonatal ICU (multiple mechanisms) - Endo/metabolic: panhypopituitarism, galactosemia, tyrosinaemia, HFI, CF, hypothyroidism - Structural: choledochal cyst - Infective: echovirus 11, TORCH Older child - Infective: Hep A-E, EBV, toxo, CMV - Metabolic: A1AT, HFI, CF, Wilson - Structural: Choledochal cyst - AI: CAH - Drugs/toxins - HLH

Answer 43

SHIRT Structural - EHBA, choledochal cyst, Alagille, polycystic disease, congenital hepatic fibrosis Storage/metabolic Haematologic - thalassaemia, SCD, leukarmia, CML Heart - CCF, constrictive pericarditis, obstructed IVC Infection - viral, bacterial, parasitic Inflammatory Infiltrative Rheumatologic - JIA, SLE Tumour/hamartoma - hepatic neoplasms, neuroblastoma, Wilms, gonadal, vascular malformations Trauma

Answer 44

CHIMPS Cardiac - SBE Connective tissue disease - sJIA, SLE Haematologic - chronic haemolytic anaemias (HS, G6PD, beta thal major) Infection - EBV, CMV, bacterial typhoid, protozoal Injury - haematoma Malignancy - leukaemia, lymphoma Portal HTN - extrahepatic, hepatic (cirrhosis), suprahepatic (Budd Chiari) Storage (Gaucher, NIemann-PIck) Splenic cyst of hamartoma

Answer 45

Hepatic (cirrhosis, portal HTN) Renal (nephrotic syndrome) GI (PLE, intestinal lymphangiectasia) CVS (right ventricular failure, constrictive pericarditis, IVC obstruction, hepativ vein obstruction (Budd Chiari)) Lymphatic (acquired chylous ascites) Infection (chronic tuberculous peritonitis)

Answer 46

Central vs peripheral (floppy strong vs floppy weak) 1. Hypotonic CP - most common central nervous system cause of hypotonia - central causes account for 60-80% of floppy infants - HIE, genetic/chromosomal (Downs, Prader Willi, DiGeorge, Williams, Sotos, Achondroplasia), brain malformations, intracranial haemorrhage, TORCH, metabolic (SLOS, Zellweger), maternal drugs 2. SMA 3. Neonatal myasthenia gravis 4. Congenital myopathies 5. Congenital myotonic dystrophy 6. Congenital muscular dystrophies 7. Prader Willi syndrome

Answer 47

1. 7 at birth 1. 3 at 3 1. 0 at 8 0. 9 at 18

Answer 48

Short lower limbs Skeletal dysplasia Hypothyroidism

Answer 49

``` Short trunk Scoliosis Spondylodysplasia Osteogenesis imperfecta Short neck ```

Answer 50

-3cm at birth-7yo 0cm 8-12yo +1cm in girls at +4cm in boys at 14 years

Answer 51

Asymmetry - palms together arms straight, feet together. Russel Silver. Carrying angle - increased in Turner or Noonan syndromes. - Elbow extension is restricted in hypochondroplasia. Tips of thumbs to tips of shoulder - overshoot = proximal (rhizomelic) shortening. - Undershoot = middle (mesomelic) or distal (acromelic) shortening. - Proximal segment shortening is seen in achondroplasia, middle and distal in other dysplasias. Palms up - Simian crease (Down syndrome) - Clinodactyly (Russel Silver) - short fingers = hypochondroplasia - Syndactyly (Apert syndrome) Palms down - hyperconvex nails in Turner Make a first - shortened fourth metacarpal in pseudohypoparathyroidism

Answer 52

Arms by side - prominent forehead (achondroplasia), flat occiput (Downs), proptosis (syndromes with craniosynostosis), micrognathia (Pierre Robin sequence), prognathism (achodroplasia) - note how far the arms/fingers reach - shape of back: lodrosis (achondroplasia), thoracolumbar kyphosis (achodroplasia), crouched posture (other dysplasia)

Answer 53

Scoliosis - bend forward to touch toes to determine if structural - many syndromes

Answer 54

At the end of the physical examination, request: - urinalysis (T1DM and CKD) - stool analysis (malabsorption, CF, coeliac, IBD) Depending on findings, specific investigations will vary. Bone age x-ray is usually most useful. Chromosomal analysis to exclude Turner syndrome. Others: - TFTs (hypothyroidism) - UEC (CKD) - Coeliac serology - GH provocation testing

Answer 55

Mnemonic: IS NICE I - idiopathic (constitutional delay in growth and puberty, familial short stature), intrauterine (SGA, TORCH, FAS) S - skeletal (dysplasia, OI), spinal (scoliosis/kyphosis), syndromes (Russel Silver, Kallman) N - nutritional (malabsorption), nurturing (Deprivation) I - iatrogenic (steroids, radiation) C - chronic diseases (CKD, CHD, CF, IBD), chromosomal (Turner, Down), craniopharyngioma or other central turmour E - endocrine (GH, hypopituitarism, hypothyroidism, Cushings, T1DM, pseudohypoparathyroidism)

Answer 56

Endocrine - hypothyroidism - hypopituitarism - GH deficiency - Cushing's syndrome - pseudohypoparthyroidism Syndromal - PWS - Bardet-Biedl - Asltrom - Down - Frohlich

Answer 57

Calculated over a 12 month period and requires at least 2 measurements. H1-H2/interval (years)

Answer 58

Normal variant - constitutional advancement of growth - familial tall stature Endocrine - hyperthydoisim - obesity Genetic/chromosomal - Klinefelter Syndromic - Marfan - BWS - Homocystinuria - Sotos - Proteus

Answer 59

Hands and feet together - hemihypertrophy (BWS, McCune Albright, Proteus) - unilateral growth arrest (homocystinuria after cerebrovascular accident) - genu valgum (homocystinuria) - gen recurvatum (Marfan) - pes planus (Marfan) Touch toes - scoliosis/kyphosis Beighton score for hypermobility (palms to floor, thumb to forearm, hyperextension fifth finger, hyperextended knees) - hypermobility -> Marfan - limited -> homocystinuria ``` Arachnodactyly tests (Steinberg = thumb past ulnar boder, Walker-Murdoch = wrist) - Marfan ``` Tremor - hyperthyroidism

Answer 60

Slit lamp ophthalmologic assessment (Marfan, homocystinuria) Urine homocystine and blood homocystine and methionine levels (homocystinuria) ECG, CXR, TTE -> Marfans IGF1 and CT/MRI if pituitary cause to be excluded Skeletal x-rays for McC-A (bony fibrous dysplasia) or for scoliosis/kyphosis

Answer 61

Chronic liver disease

Answer 62

Iron deficiency

Answer 63

Chronic liver disease

Answer 64

Iron deficiency

Answer 65

``` Friedreich ataxia Labyrinthitis Ataxia-telangiectasia Metabolic Oncologic (medulloblastoma, neuroblastoma) Infection (cerebellitis, meningitis, mastoiditis) Guillain-Barre syndrome Genetic Post-infectious cerebellitis Paroxysmal vertigo Psychogenic Intoxication/ingestion Nutritional (B12, E, other B vitamins) Neurodegenerative ```

Answer 66

AIS (arterial ischaemic stroke) - sickle cell anaemia, sepsis - cardiac, clotting tendancy - arteriopathies (50-80%) Haemorrhagic stroke - Cerebral vascular abnormalities (40-90%) e.g. AVM, aneurysm; coagulopathies - HTN, haemophilia - AVM/aneurysm - tumour, thrombocytopenia

Answer 67

Normal gait Heel-toe walking (cerebellar pathway) Walking on heels (strength of dorsiflexion L5 or contractures of calf muscles) Walking on toes (strength of plantar flexion S1) Walking on outside of feet (Fog test) (exacerbates subtle hemiplegia) Running Stand on each foot (Trendelenburgs sign) Hopping on each foot (unilateral weakness, balance) Stand with fee together (eyes open (cerebellar), eyes closed (Rombergs sign, proprioception)) Bend forward and touch toes (scoliosis) Squat and then rise from squat (strength) Lie on floor and rise from position (Gowers manoeuvre)

Answer 68

Adduction of the contralateral hip when the knee jerk is elicited. Indicates UMN lesion in children older than 8 months. Other spread of reflexes may occur.

Answer 69

Valvular repair VSD/septal defects Fontan

Answer 70

Right ventricle enlargement

Answer 71

``` Growth and development Cyanotic/acyanotic Surgery/no surgery Failure/no failure Dysmorphism ``` Specific cardiac findings: murmur plus details e.g. grade, site, radiation

Answer 72

``` T21 – AVSD, VSD, ASD Noonans – PS, ASD, HOCM DiGeorge- TA, TOF, VSD Williams- supravalvular AS, PPS Turners – CoA, bicuspid AV Alagille – TOF, PPS CHARGE – Conotruncal – TA/TOF/Arch VACTERL- VSD ```

Answer 73

IHUGVIDEP Head circumference (say you’d do it 3x) Hearing and vision Each developmental domain

Answer 74

Growth Global vs isolated delay/disability, and estimated developmental age * Acknowledge that if there is history of prematurity that would like to correct for gestational age ** Caveat: assessment of language and social skills difficult in artificial environment Hearing and vision Dysmorphism Additional findings (e.g. neurocutaneous stigmata)

Answer 75

Neurological exam Make sure you’ve had a good look at the skin Dysmorphism exam (hands, mouth, spine and feet) Cardiac GIT for HSM in metabolic disease

Answer 76

Birth history, family history and developmental history – specifically regression ``` Bloods: Karyotype Specific genetic testing for syndromes or whole exome sequencing TORCH screen Metabolic screen (VBG, ammonia, urine) ``` Imaging MRI brain/spine

Answer 77

``` Growth Dysmorphism Jaundice Abdo signs (scars, masses) Signs of CLD Nutritional status Cx of immunosuppression (e.g. if tx patient) ```

Answer 78

Biliary tree dysfunction Chronic hepatitis Metabolic/genetic – Wilsons, A1AT, CF

Answer 79

Glomerulonephritidies (IgA mediated) Structure malformation (PUV) Congenital nephropathies (FSGS) Infection (HUS)

Answer 80

Inspection- good look at the legs and back Ask can they walk unaided? Normal walk Walk on toes- asses plantar flexion (s1) – unable to do Walk on heels- dorsiflexion (L5), DMD, CP anterior horn, peripheral neuropathy, cant do Walk on outside of feet (frog test)- bring out hemiplegia Run Tandem gait Stand on each foot Squat Gower’s Romberg- +ve dorsal column loss(proprioception) if eye’s closed, if open cerebellar

Answer 81

``` Growth and cognition Gait specifics Lower limb neuro specifics Dysmorphism Other e.g. facial sparing, cardiac findings (e.g. murmur -> ?stroke), scars (e.g. shunt, tumour, haemorrhage) ```

Answer 82

Antalgic gait High stepping gait - Peripheral neuropathy Hemiplegic - Tumour, stroke, haemorrage Trendelenburg - Proximal weakness Spastic - CP Ataxic - Cerebellar - Peripheral neuropathy - Vestibular - Posterior column

Answer 83

V – vascular such as haemorrage or stroke I – infective such as post viral cerebellitis G – genetic such as Frederiech’s ataxia T – tumour such as medulloblastoma M – metabolic such as lysosomal storage disorder D – demyelinating process such as GBS or ADEM

Answer 84

``` B – B12 deficiency I – infective eg post infectious GBS T – tumour eg lymphoma or NF-1 C – chemotherapy such as vincristine H – hereditary sensory motor disease M – metabolic eg diabetes ```

Answer 85

``` Growth/cognition Gait Lower limb neuro findings Other e.g. UL, cranial nerves Dysmorphism Other e.g. possible causes (murmur, tumour, haemorrhage) -> stroke, shunt ```

Answer 86

Brain - Metabolic - Genetic - Prematurity/PVL - Stroke/vascular - Infection - Space occupying lesion Spinal cord

Answer 87

Anterior horn - SMA Peripheral nerve - CMT Neuromuscular junction - Myasthenia Muscle - Congenital myopathies - Muscular dystrophies

Answer 88

Medial longitudinal fasciculus

Answer 89

Loss of vertical gaze, (later also horizontal gaze). Both eyes affected and there is no diplopia. Classically associated with MS.

Answer 90

If ptosis apparent, the main question you need to answer is: Is the ptosis neurogenic or myogenic? (note, the muscle involved is levator palpebrae superioris, cf orbicularis oculi which is supplied by CN7) Neurogenic: CN 3 palsy, or Horner’s (look at the pupil! – ptosis + large pupil = CN3; ptosis + small pupil = horners; commonest cause = post-cardiac surgery) Myogenic: myasthenia (look for fatiguability), myotonic dystrophy, congenital ptosis. Note that you CAN have myasthenia with unilateral signs

Answer 91

- Supine: Note posture, abnormal ATNR (fencing reflex), involuntary movements with CP; paucity movements in LMN pathology, scarf sign - Pull to sit: comment on head lag. Comment head and trunk control, back is straight or rounded - Morrow reflex - Weight bear: scissoring, hypotonia, advanced weight bearing (CP) - Ventral suspension: describe posture, low tone, increased extensor tone - Prone: Observe ability to raise head, trunk above horizontal

Answer 92

Floppy strong = think central cause. (TFTs, urine metabolic screen, MRI brain, genetic testing) Floppy weak = think peripheral cause. (CK, EMG, Nerve conduction studies, muscle biopsy, microarray)

Answer 93

Central (most common) - HIE - Infection - Endocrine - Genetic/syndromic (T21, fragile X, PWS) - Cerebral malformations - Metabolic (Zellweger) Peripheral - Anterior horn (SMA) - Inherited neuropathies (infant neuroaxonal neuropathy etc) - NMJ (congenital myasthenia) - Muscle (congenital muscular dystrophy, congenital myopathy, metabolic myopathy, congenital myotonic dystrophy)

Answer 94

Short Macrocephaly (usually d/t large brain, may also be hydrocephalus, tumour) CALM: 6+, 5mm+ (present at birth, obvious by 1 year of age) Axillary/inguinal freckling (mid childhood) Neurofibroma: 2+, onset of puberty (look for scratch marks, neurofibromas have high mast cell content) Harris: growth (rapid weight loss d/t diencephalic syndrome with chiasmal glioma), eyes, BP, spine. Height and US:LS (?scoliosis) Manoeuvres - scoliosis - hemihypertrophy (plexiform neurofibroma) Eye (full) - visual fields - ptosis (droop)/proptosis (bulge) - ask to do slit lamp exam (Lisch nodules - 90% by 5 years) and fundoscopy (optic nerve hypoplasia) CVS - BP (HTN) - auscultate (CoA, PS) - pectus excavatum Abdo - masses (phaeochromocytoma) - renal bruits Neuro/limbs - gait (or developmental assessment if <2yo) - ?bowing (bony dysplasia) - full neuro exam if time Hearing at the end (make obvious that not expected with NF1) Ix - formal ophthal exam - cognitive and developmental exam - MRI brain

Answer 95

Congenital: - syndromic (trisomy's, Angelman, SLO, Cornelia De Lange, Aicardi, Fanconi); - brain malformations (holoprosencephaly, lissencephaly); - hereditary Acquired: - chemical (FASD); - hypoxic (HIE); - infection (TORCH); - endocrine (hypothyroidism/hypopituitarism), - malnutrition Craniosynostosis

Answer 96

Large bone: - achondroplasia, OI, - Rickets, - Hemolytic disease Large brain - megancephaly (sotos, NF, TS, SW; metabolic eg MPS); - localized large brain (cerebral abscess, tumor, subdural hematoma) Large fluid - hydrocephalus (obstructive in posterior fossa malformation; vein of Galen, aqueduct stenosis; non-obstructive such as infection, leukemic infiltration SAH)

Answer 97

IHUGVIDEP - growth - BP (?HTN with raised ICP) - iatrogenic: glasses and hearing aids - dysmorphic - neurocutaneous stigmata Head - HC x3 (or say x3) - shape, sutures, fontanelle, shunts - bruits Eye exam - TORCH, metabolic - General examination (glasses, proptosis, corneal opacity) - Acuity - Fields - Fundoscopy - Pupils and EOM Other - Back to look for scoliosis - Comment on dysmorphology including limbs (syndactyly/polydactyly in Aperts) - CVS (Peripheral PS, PDA for TORCH) - Abdominal (HSM, metabolic) - Comment on gait, quick UL and LL neuro if older child, if preschool and younger do quick developmental exam Ix - Imaging (skull XRAY/CT/MRI) - Bloods (TORCH serology, urine CMV, Genetic testing; TSH, metabolic tests)

Answer 98

Focus on skin and neurodevelopmental assessment including fundoscopy. HC (macrocephaly d/t hydrocephalus d/t subependymal nodules of subependymal giant cell astrocytomas) BP and urinalysis (renal manifestations, cysts, tumours e.g. angiomyolipomas) Skin - hypomelanotic macules, classic are ash leaf shaped - comment on need to re-examine with Woods light (UV light) for more accurate assessment - lesions appear at birth/infancy - depigmentation of hair/eyebrows/eyelashes (poliosis) or iris - fibrous plaque on forehead, facial angiofibromas (small flesh coloured papules cheeks and chin, usually 2-5 years, rare before 2) Fingers/toes - ungual fibromas (older children and adolescents, around time of puberty) Shagreen patch (leathery or orange peel yellowish plaques on trunk, predominantly lumbosacral, usually around time of puberty) Mouth - fibromas, pitting of teeth Neurodevelopmental assessment - HC - eyes (mention fundoscopy - retinal hamartomas) - vision and hearing (hearing usually normal) - neuro exam, LL then work up. Abnormal focal signs are rare. Heart for rhabdomyomas Lungs for lymphandioleiomyomatosis Abdo for nephromegaly from angiomyolipomas or cysts, hepatomegaly or splenomegaly from angiomyolipomas of these organs

Answer 99

``` Iatrogenic - long line, port, PEG Stigmata chronic liver disease Sputum - get patient to cough, ask to inspect BSL marks on fingers, insulin marks on abdomen Nicotine staining Palmar erythema Nutritional status Lymph nodes Nasal polyps Apex beat (PCD), signs of pulmonary HTN/cor pulmonale Abdo scars (mec ileus, DIOS), portal HTN HSM, liver ptosis Pubertal status ``` Ix Confirm: NST, Sweat test/genetic test Blood: LFTs, Nutritional bloods Others: CXR, Lung Function Test, CT (bronchiectasis and inflammation) Sputum culture Long term: HbA1c, DEXA scan

Answer 100

``` Post viral Immunodeficiency Ciliary dyskinesia including Kartegener’s syndrome Chronic inhaled foreign body Pulmonary interstitial fibrosis Alpha 1 anti-trpsin ``` CF - Nasal polyps, endo signs, may have hepatomegaly PCD - Signs of chronic OM, +/- situs inversus if Kartagener syndrome Primary immunodeficiency - Skin changes, hepatosplenomegaly, no tonsils

Answer 101

Resp - pulmonary HTN (mean survival 6 months) - lung Tx (75% 3 year mortality) Nutritional - malabsorption/malnutrition GI - CLD, portal HTN - mec ileus, DIOS - herniae - rectal prolapse (usually first few years of life) Anaemia Treatment - steroids - aminoglycosides -> hearing - immunosuppression with organ transplant - cx vascular access

Answer 102

``` Cobb angle Definition 0°–10° Spinal curve 10°–20° Mild scoliosis 20°–40° Moderate scoliosis >40° Severe scoliosis ```

Answer 103

Wrist: Swollen joints (Hypertrophic Pulmonary Osteoarthropathy; HPOA) CF, cyanotic HD ``` Respiratory cycle (insp vs exp time) Asterixis ``` ``` Micrognathia, retrognathia Sinus tenderness Nasal polyps (CF) Comment on otoscopy but leave til end in interest of time Palate ?cleft/scars Tonsils ``` ``` Harrisons sulci (linear depression of lower ribs just above costal margins) - Severe asthma in childhood, rickets ``` Additional - CVS: apex, parasternal heave, palpable P2, heart sounds and murmurs - Abdo: scars, HSM - LL: fat/muscle, oedema, toe clubbing - pubertal assessment - fundi - skin - neuro

Answer 104

``` Growth, pubertal status Macro/micro nutrient status Resp findings - cyanosis, scars, cough, auscultation Cardiac - pulmonary HTN, apex Abdo - scars, HSM Endo - BSL/insulin ```

Answer 105

Confirm diagnosis: - Sweat test, genetic testing for deltaF508 - Nasal brushings/nitrous oxide (PCD - low) - FBE looking at immunoglobulins and lymphocyte subsets Imaging: - CXR and CT chest Severity: - RFTs ``` IF CF is most likely diagnosis… Other clever things include: - Screening bloods such as HbA1c, LFTs - Sputum culture Nutritional screening bloods: - FBE, B12 and iron studies, UEC, CMP, fat soluble vitamins ```

Answer 106

Oropharynx obstruction (eg cystic hygroma) Larynx 🡪 bronchi obstruction - Stenosis (tends to be Swedish nose at baseline) - Intramural: subglottic stenosis (prev intubation, ex-prem, TOF-OA) - Extramural: vascular rings Malacia (tends to be connected to CPAP to overcome dynamic obstruction) - Tracheobronchomalacia

Answer 107

CXR - Hyperinflation - Increased bronchovascular markings from perihilar region extending out into the lung fields bilaterally - Tram tracking (This description applies to dilated airways seen in a horizontal orientation, thickened non-tapering (parallel) walls of cylindrical bronchiectasis) - Dilated bronchi - Lobar collapse CT - Definition: signet ring (airway>vessel with contrast) - Bronchial wall thickening - Tram tracking: used in CXR or CT to denote the thickened non-tapering (parallel) walls of cylindrical bronchiectasis. - Mucous plugging = white - Collapse - Mosaic attenation = cobblestoning (areas of light and dark = gas trapping)

Answer 108

Noonan, William

Answer 109

Noonan, William, Turner, Down

Answer 110

``` 3) Hands facing up Simian crease 🡪 Downs Clinodactyly 🡪 Russel-Silver, Down Syndactyly 🡪 Aperts Polydactyly 🡪 Bardet Beidl ``` 4) Hands facing down Trident deformity 🡪 achondroplasia Hyperconvexed nails 🡪 Turner

Answer 111

Pseudohypoparathyroidism, Turner, fetal alcohol

Answer 112

Palms of hands together, arms out straight, chin to chest and bend forward to try and touch your toes - Scoliosis

Answer 113

Weight < Length < Head circumference = NUTRITIONAL Head circumference < Weight < Length = NEUROLOGICAL Length < Weight ≤ Head circumference = ENDOCRINE Weight = Length = GENETIC or CONSTINUTIONAL 1. Genetic syndrome/constitutional: symmetrically small (T21, Turners, Noonan, Prader Willi, Bardet-Biedtl, Russel Silver) 2. Nutrition / chronic disease: heart, kidneys, GI, lung 3. Endocrine: (hypothyroid, Cushing, pseudohypoparathyroidism) 4. Skeletal dysplasia: abnormal UL:LL ratio or arm span (achondroplasia, OI, acro/mesomelic achondroplasia

Answer 114

``` Noonan Turner Russel-Silver Achondroplasia Osteogenesis imperfecta Prader-Willi Bardet-Biedl T21 ```

Answer 115

Delayed puberty: Constitutional delayed puberty Pituitary disorders Chronic disease Normal puberty: Familial short stature Advance puberty: Precocious puberty

Answer 116

ENDOCRINE - Hypothyroidism - Hypopituitarism - GH deficiency - Cushing syndrome - Pseudohypoparathyroidism Prader Willi syndrome Bardet Biedl syndrome (a genetic disorder in which ciliary functions are altered in the cells. Six major features are the hallmark of the disorder: obesity, retinal degeneration, hypogonadism, polydactyly, renal dysfunction and mental retardation)

Answer 117

Bloods - TFT 🡪 hypothyroidism - Growth hormone provocation tests - IGF-3/IGFBP-3 🡪 GH deficiency/resistance - Dexamethasone suppression test 🡪 Cushings Genetic - Microarray - WES - Targeted Imaging - Bone age 🡪 maturational delay, precocious puberty, hypothyroidism, hypopituitarism - Skeletal survey 🡪 skeletal dysplasia ‘ Other - Urinalysis: T1DM, kidney disease - Stool analysis: malabsorption 🡪 coeliac disease, cystic fibrosis, inflammatory bowel disease (fat globules = CF; fat crystals = coeliac) - UEC 🡪 CKD - TTA IgG + sweat test 🡪 Ceoliac - Nutritional bloods

Answer 118

``` Constitutional/familial Marfan syndrome Homocysteinuria Sotos syndrome Klinefelter Kallman Beckwith Weiderman syndrome ```

Answer 119

Pes planus also known as flat foot is the loss of the medial longitudinal arch of the foot, heel valgus deformity, and medial talar prominence.[1] In lay terms, it is a fallen arch of the foot that caused the whole foot to make contact with the surface the individual is standing on.

Answer 120

In pes equinus, the plantarflexor muscles and Achilles tendon are tightened, which limits dorsiflexion of the ankle and results in a plantarflexion deformity.

Answer 121

Pes cavus is a foot with an abnormally high plantar longitudinal arch.

Answer 122

Hypermobility 🡪 Marfans - Palms to floor - Thumb to forearm - Hyperextension fifth finger (Passive hyperextension of the fifth finger over 90° (Gorling’s sign)) - Hyperextended knees - Hyperextended elbows Arachnodactyly 🡪 Marfans - Steinberg sign: extension of whole distal phalanx of the thumb beyond the ulnar border. - Walker-Murdoch sign: overlapping of the distal phalanx of the thumb with the distal phalanx of the little finger when encircling the opposite wrist. Beighton Score 1. Passive hyperextension of the fifth finger over 90° (Gorling’s sign) 2. Apposing thumb to forearm with wrist flexed 3. Hyperextension of the elbow greater than or equal to 10° (apparently not useful as Marfan has paradoxically restricted elbow extension) 4. Hyperextension of the knees greater than or equal to 10° 5. Hands flat on floor while keeping knees straight and bending forward at waist. If the above tests for Beighton score demonstrate reduced mobility, then homocysteinuria is more likely. In short case, extra things to check/mention are eyes and heart.

Answer 123

``` Extra: Slit lamp/ophthalmological Cardiac Neurological GIT Developmental ``` Ix Bloods: - Baseline: TFTs, GH - Puberty: LH, FSH Imaging: - Bone age - MRI B - Skeletal survey Other: - Specific genetic - ECG/ECHO - Urine homocysteine + methionine - Alpha fetoprotein

Answer 124

Gender (haemophilia and G6PD are X-linked) Nationality (thalassaemia Asia/Mediterranean, SCA Africa) Dysmorphology (Fanconi, Blackfan Diamond, thrombocytopenia absent radius) ``` Visually scan the joints for swelling (haemophilia, SCA, HSP, ALL, IBD, JIA) Abdo distension (HSM) ``` Skin - petechiae, purpura, ecchymoses - raised/tender (vasculitic) versus flat and nontender (platelet issue) - jaundice, scratch marks (haemolysis) - haemangiomas (consumptive coagulopathy) - cutaneous manifestations of SLE - stigmata CLD Then hands -> head -> downwards - chest wall - spine - abdomen - gait - LL - heart Epitrochlear nodes bilaterally (just above medial epicondyle elbow). Axillary nodes. Ix - stool analysis - urinalysis - temperature chart

Answer 125

Ix - FBE with film is most useful - microcyticL iron, thalassaemia, chronic inflammation - normocytic: low retics (transient erythroblastopenia of childhood, aplastic crises, Diamond Blackfan anaemia), elevated retics (bleeding, haemolysis) - macrocytic: B12 and folate deficiencies

Answer 126

Extrinsic - mechanical (small vessel disease HUS, DIC, large vessel disease e.g. prosthetic cardiac valves) - CKD or CLD - haemolysis mediated by antibodies, AIHA and isoimmune haemolysis Intrinsic - membrane abnormalities (hereditary spherocytosis) - enzyme abnormalities (G6PD) - haemoglobin disorders (sickle cell anaemia)

Answer 127

Bloods vessels vs platelets vs coagulation system. Ix - FBE/film - platelet number and size, other cell lines ?aplastic anaemia or leukaemia - coagulation studies - platelet aggregation studies with ristocetin (assess vWF binding to platelets and activating them) - vWF antigen, activity, and multimer analysis

Answer 128

1. Thorough general inspection (Cushingoid, rash) 2. Systematic examination of all joints - inspection, palpation, movement (active then passive), measurement, functional ability 3. Examine for extra-articular manifestations of JIA and other disease affecting joints, plus detection of drug side effects - skin - hands - blood pressure - hair - eyes - mouth - neck - chest - abdo - lower limb neuro 4. Temp, urine, stool Tips - start with gait (?antalgia), take off jumper/shirt (upper limb function), write name (hand function) - position: confrontation/mirroring (sit directly opposite) - sequence: Inspect distribution of of involvement (?symmetry), swelling, loss of contours/angulation, deformity, redness, wasting. Feel joint/periarticular areas (tenderness, warmth, effusion, boggy, enthesitis, contractures). ROM (active then passive). Function. - order of joints: Hand to head then head to toe: hands, wrists, elbows, shoulders, temperomandibular joints, cervical spine, lumbar spine, hips, knees, ankles, feet.

Answer 129

Dermatomyositis

Answer 130

SLE Dermatomyositis MCTD (mixed)

Answer 131

``` Heliotrope eyelids Vasculitic rash Subcutaneous calcification Nail bed telangiectasia Gottron papules Dysphonia Proximal weakness PR blood ```

Answer 132

``` Tight skin Pigmentation and depigmentation Raynauds phenomenon Flexor tendon nodules Nodules over elbows Proteinuria ```

Answer 133

Gottron papules are red or violet bumps that form on the outside joints of the hand. They are caused by a rare inflammatory muscle disease called dermatomyositis.

Answer 134

Hands: grip strength, write, cutlery, cup, tootbrush, buttons, zips Elbows/shoulders: comb hair, answer telephone Thoracolumbar spine: pick object up off floor, socks/shoes Hips: gait

Answer 135

Mark 5cm below and 10cm above iliac crest Bend forward Measure distance - <5cm increase = restricted movement

Answer 136

True leg length is measured from ASIS to ipsilateral medial malleolus

Answer 137

Sit on foot, push/pull If movements forwards -> ruptured ACL If backwards -> PCL