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RACP Clinical Exam > Short Cases > Flashcards

Short Cases Flashcards

1
Q

Causes of hepatomegaly (SHIRT)

A
  • Structural:
    • biliary atresia, choledochal cyst, Alagille, polycystic disease, congenital hepatic fibrosis
  • Storage/metabolic:
    • GSD type 1, 3, 4, 6, lipid errors, carbohydrate errors, amino acid errors, Wilson’s disease, cystic fibrosis, alpha-1 antitrypsin deficiency, TPN
  • Haematological:
    • Thalassaemia, sickle cell, ALL, hodgkins
  • Infection:
    • EBV, CMV, hepatitis, TB, syphilis, parasitic infections
  • Rheumatological:
    - SLE, sJIA
  • Trauma:
    - Hepatic haematoma
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2
Q

Causes of splenomegaly (CHIMPS)

A
  • Cardiac - subacute bacterial endocarditis, connective tissue (sJIA, SLE)
  • Haematological - hereditary spherocytosis, G6PD deficiency, beta thalassemia major
  • Infection - EBV, CMV, bacterial, SBE, typhoid
  • Malignancy - leukaemia, lymphoma
  • Portal hypertension
  • Storage disease - Gaucher, Niemann-Pick
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3
Q

Causes of hepatosplenomegaly

A
  • Congenital hepatic fibrosis
  • Thalassaemia
  • Infection: EBV and TORCH
  • Malignancy: leukaemia and lymphoma
  • Storage diseases: Gaucher (long term), Niemann-Pick, MPSs
  • Chronic hepatic disease leading to portal hypertension
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4
Q

Causes of unilateral renal flank mass

A
  • Tumour e.g. Wilm’s, neuroblastoma, adrenal cell carcinoma
  • Hydronephrosis
  • Hypertrophied solitary kidney
  • Renal cyst
  • Renal vein thrombosis
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5
Q

Causes of bilateral renal flank masses

A
  • Polycystic kidney disease (AR or ADPKD)
  • Hydronephrosis: posterior urethral valves, VUR, neurogenic bladder
  • Tumour: WIlms, leukaemia, lymphoma, tuberous sclerosis complex
  • Metabolic: GSD type 1 (A+B), tyrosinaemia type 1
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6
Q

Causes of ascites

A
  • Hepatic - liver failure, portal HTN
  • Renal - nephrotic syndrome, CKD
  • Cardiac - cardiac failure, IVC obstruction, Budd-Chiari syndrome
  • Gastrointestinal - protein-losing enteropathy (coeliac, IBD), intestinal lymphaengectasis
  • Lymphatic - acquired chylous ascites (thoracic duct obstruction)
  • Infection - chronic TB peritonitis
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7
Q

Causes of conjugated hyperbilirubinaemia

A
  • Sick child: inborn errors of metabolism, sepsis, liver failure
  • Well child: biliary disease and hepatocellular disease
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8
Q

Causes of obstructive jaundice with hepatomegaly

A
  • Biliary atresia
  • Alagille syndrome
  • Alpha 1 antitrypsin deficiency
  • Ex-prem eg IFALD, TPN use
  • Endocrine/metabolic: panhypopituitarism, galactosemia, tyrosinaemia, cystic fibrosis
  • Choledochal cyst
  • Infection: echovirus 11, TORCH
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9
Q

Jaundice and cardiac issues are associated in …?

A
  • Alagille: PIBD and pulmonary artery stenosis
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10
Q

Dysmorphology: causes of short stature

A
  • Turners - female, webbed neck, widely spaced nipples, increased carrying angle
  • Noonans - male or female, low-set ears, pulmonary stenosis, webbed neck
  • Williams - elfin-like facies, wide mouth, cocktail personality, supravalvular aortic stenosis
  • Russell Silver syndrome - petite, elf-like features
  • Fanconi anaemia - thumb/radial abnormality, short stature
  • Skeletal dysplasias
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11
Q

Dysmorphology: causes of tall stature

A
  • Marfan’s - hyperextensibility, pes cavus, aortic root dilation, increased LS ratio, long arms, lens dislocation up
  • Homocysteinuria - stiff, lens dislocation down, low IQ
  • Klinefelter’s - tall stature, euchnoid habitus, hypogonadism
  • Sotos syndrome - coarse facial features
  • Beckwith-Wiedemann - hemihypertrophy, large tongue, overgrowth, umbilical hernia
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12
Q

Dysmorphology: causes of obesity

A
  • Prader-Willi

- Bardet Biedl - renal issues, polydactyl, low IQ

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13
Q

Dysmorphology: causes of pubertal delay

A
  • Klinefelter’s - tall stature, euchnoid habitus, hypogonadism
  • Prader-Willi - obesity, hypotonic infant, hypogonadism
  • Turner’s - ovarian dysgenesis, short stature, webbed neck, wide carrying angle, widely spaced nipples
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14
Q

Dysmorphology: causes of aortic stenosis

A
  • William’s - supravalvular aortic stenosis, elfin-facies, short stature, wide mouth, cocktail personality
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15
Q

Dysmorphology: causes of pulmonary stenosis

A
  • Noonan’s - pulmonary stenosis
  • Alagille - peripheral pulmonary stenosis, small triangular face, pointed chin, jaundice, abnormal intrahepatic bile ducts
  • William’s - elfin facies, supravalvular aortic stenosis, pulmonary stenosis, wide mouth, cocktail personality
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16
Q

Dysmorphology: causes of conotruncal/AVSD

A
  • 22q11 - conotruncal, cleft palate, learning difficulties
  • Down syndrome - epicanthic folds, flattened nasal bridge, upturned nose, upslanting palpebral fissures, single palmar crease, AVSD/VSD, duodenal atresia
  • Turners - coarctation of the aorta, short stature, webbed neck, widely spaced nipples, increased carrying angle
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17
Q

Dysmorphology: causes of aortic dilation

A
  • Marfan’s - tall stature, hypermobility, chest wall abnorm, high arched palate, increased LS ratio and arm span, lens dislocation upwards
  • Homocysteinuria - tall stature, stiff, low IQ, lens dislocation downwards, aortic root dilation
  • Ehler’s Danlos - aortic root dilation, hypermobility, increased Beighton score, subluxation/dislocation, skin issues
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18
Q

Dysmorphology: causes of radial ray abnormalities

A
  • Fanconi anaemia - short stature, cafe au lait, thumb/radial abnormalities
  • VACTERL
  • Thrombocytopenia absent radius (TAR) syndrome
  • Blackfan Diamond
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19
Q

Dysmorphology: causes of deafness

A
  • Goldenhar
  • CHARGE
  • Waardenburg
  • Treacher Collins
  • Alport - haematuria, renal failure
  • NF-2 - acoustic schwannoma
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20
Q

Dysmorphology: causes of cleft lip and palate

A
  • 22q11 - clef palate (not lip), conotruncal abnormalities
  • Isolated anomaly
  • Stickler syndrome
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21
Q

Dysmorphology: causes of cafe au lait macules

A
  • NF1 - cafe au lait, neurofibromas, plexiform fibroma, scoliosis, lisch nodules, axillary freckling, orbital glioma
  • Noonan
  • LEOPARD syndrome - now called Noonans with multiple lentigines
  • Legius syndrome
  • Fanconi anaemia
  • Isolated/normal population
  • Mc-Cune Albright - large “Coast of Maine” cafe au lait, precocious puberty in females due to ovarian tumour, polyostotic fibrous dysplasia, facial asymmetry, scoliosis
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22
Q

Causes of right thorcotomy scars

A
  • Shunts (e.g. BT shunt if absent pulses same side)
  • Chest drain
  • Lung operations
  • Tracheoesophageal repairs
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23
Q

Causes of left thoracotomy scars

A
  • Coarctation repairs
  • Shunts (modified BT)
  • PDA repair/ligation
  • Pulmonary artery banding
  • Lung operations
  • Chest drain
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24
Q

Causes of central sternotomy scars

A
  • All repairs/any bypass surgery: palliative, corrective, non-bypass, tracheoesophageal fistula
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25
Q

Discuss maneuvers for cardiac murmurs

A
  • Left lateral: increases mitral murmurs
  • Sitting forwards: increases aortic murmurs
  • Inspiration: increases right sided lesion murmurs
  • Expiration: increases left sided lesion murmurs
  • Valsalva: increases HOCM murmur
  • Neck and arm extension: flow murmurs disappear
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26
Q

Causes of collapsing pulse

A
  • Aortic regurgitation
  • PDA
  • large AV fistula
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27
Q

Causes of asymmetric brachial pulse

A

Post coarctation repair (using L subclavian flap) or absent R pulse post BT shunt

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28
Q

Cause of slow-rising pulse

A

Suggests flattened pulse amplitude, impaired ejection from left ventricle e.g. aortic stenosis

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29
Q

Definition and cause of pulsus paradoxus

A
  • Decrease in systolic BP >10mmHg in inspiration
  • Cardiac tamponade
  • Pericarditis
  • Severe asthma
  • High intrathoracic pressures
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30
Q

Causes of congenital cyanotic heart disease

A
  • 6 x Ts, 1 x P, 1 x H
  • Transposition GA, ToF, truncus arteriosus, tricuspid atresia, Ebstein’s anomaly, TAPVD
  • Pulmonary atresia
  • Hypoplastic left heart
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31
Q

Findings in transposition of the great arteries

A
  • Cyanotic
  • Isolated TGA has no murmur (would have murmur if associated ASD or VSD)
  • May have loud S2 as anterior aortic valve
  • CXR: egg on a string, narrow pedicle, normal or increased pulm vasculature
  • ECG: may be normal
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32
Q

Treatment of transposition of the great arteries

A
  • Prostaglandin infusion
  • Initial balloon atrial septostomy
  • Then arterial switch operation
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33
Q

Findings in tetralogy of fallot

A
  • Cyanotic
  • RVOT obstruction (pulm stenosis), RVH, VSD, overriding aorta
  • Ejection systolic murmur over LUSE (pulm stenosis)
  • Loud single S2 (no P2)
  • If severe: RV heave, left sternal edge thrill, aortic click
  • May have continuous murmur with collaterals
  • CXR: boot-shaped, oligaemia
  • ECG may be normal, or upright T in V1, tall R in V1 and deep S V5-V6
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34
Q

Management of tetralogy of fallot

A
  • Treatment of tet spells: squatting, knees to chest, oxygen, morphine, may need IVF
  • Beta-blockers to treat spells (decr HR and systemic vascular resistance)
  • Primary surgical repair age 6-24 months (could have BT shunt first if not stable for full repair)
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35
Q

Cyanosis plus LAD on ECG

A

Usually tricuspid atresia

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36
Q

What is the Fontan procedure?

A

Diverts all blood from IVC and SVC directly into the pulmonary arteries, bypassing right ventricle

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37
Q

What is the Glenn procedure?

A

The superior vena cava (SVC) is disconnected from the heart and connected directly to the pulmonary artery. Same as bidirectional cavopulmonary shunt.

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38
Q

Treatment of tricupsid atresia

A
  1. BT shunt (shunt between branch of aorta and pulmonary artery)
  2. Glenn procedure (SVC connection to R pulmonary artery)
  3. Fontan ~age 2y - definitive procedure. Diverts all blood (SVC and IVC) to pulmonary artery, bypassing R ventricle
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39
Q

Findings in Ebstein’s anomaly

A
  • Have associated PFO or ASD
  • Small volume pulse, loud S1 (thickened valve leaflets), systolic murmur (tricuspid regurg), scratchy diastolic murmur (tricuspid stenosis)
  • CXR: wall to wall cardiomegaly in neonate
  • ECG: tall p waves lead II. May have prolonged PR, delta waves (WPW), RBBB
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40
Q

Treatment of Ebstein’s anomaly

A
  • Palliation with Norwood repair
  • Closure of ASD
  • Tricuspid valve replacement
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41
Q

What investigations would you like after seeing a child with cerebral palsy?

A
  • Brain MRI (major malform, hydrocephalus, calcifications, PVL, cortical dysplasia, atrophy, leukodystrophy)
  • TORCH screen
  • Urine metabolic screen (IEoM)
  • Chromosomes
  • Lumbar puncture in dyskinetic CP (glucose transporter 1 deficiency syndrome - treatable)
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42
Q

What are the complications of cerebral palsy?

A
  • Intellectual disability, communication issues, inability to complete ADLs
  • Mobility issues
  • Vision and hearing loss
  • Contractures
  • Hip dislocation due to spasticity
  • Epilepsy
  • Constipation
  • Aspiration, reflux
  • Chest infections, sleep apnoea
  • Pressure sores
  • Urinary incontinence
  • Feeding difficulties - PEG, failure to thrive
  • Mental health - depression
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43
Q

What are the notable rare CP mimics?

A
  • Metabolic - glutaric acidemia type 1, Lesch-Nyhan syndrome
  • Muscular dystrophies - eg BMD
  • Mitochondrial - Leigh syndrome
  • Malformation syndromes - Miller-Dieker lissencephaly syndrome, Rett syndrome
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44
Q

Discuss the GMFCS classification

A
  • Gross motor functional classification system
  • 1 - ambulatory in all settings
  • 2 - walks without aids but has limitations in community settings
  • 3 - walks with aids
  • 4 - mobility requires wheelchair or adult assist
  • 5 - dependant for mobility
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45
Q

What condition do you need to consider in dyskinetic CP?

A

Glucose transporter 1 deficiency syndrome - as this is a treatable neurometabolic condition (responds to ketogenic diet). Consider if refractory seizure disorder and developmental delay. CSF glucose <2.2, CSF:plasma glucose ratio <0.4

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46
Q

Causes of proximal muscle weakness

A
  • Duchenne or Becker muscular dystrophy
  • Myopathy
  • Anterior horn cell disorders e.g. SMA
  • Steroids
  • Need to look for myotonia and fasciculations
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47
Q

Causes of distal muscle weakness

A
  • Neuropathy e.g. Charcot Marie Tooth
  • Need to assess sensation, proprioception, vibration, 2-point discrimination
  • Thickened ulnar and common peroneal nerves (at fibular neck)
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48
Q

Pathognomic feature of neuromuscular junction disorders

A
  • Fatigability
  • E.g. autoimmune or congenital myasthenia gravis
  • Examine child following exercise e.g. star jumps or stairs, ask child to sustain upwards gaze >3min leads to ptosis
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49
Q

What are the side effects of long term steroid use?

A
  • Weight gain and increased appetite
  • Reduced height
  • Pubertal delay
  • Muscle weakness
  • Reduced bone density/osteoporosis - long bone and vertebral compression fractures
  • Gastric ulcers (need omeprazole)
  • Mood changes
  • Hyperglycemia and diabetes
  • Effects on sleep
  • Easy bruising, thinning of the skin
  • Cushingoid features (moon face, buffalo hump, central obesity)
  • Hypertension
  • Immunosuppression
  • Adrenal crisis risk
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50
Q

What are the benefits of deflazacort treatment in DMD?

A

Enhances cardiac (LV systolic function) and pulmonary function and attenuates development of scoliosis. Is a derivative of prednisone.

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51
Q

Why do DMD patients have increased risk of bone fractures?

A

Weakness, decreased mobility, steroid therapy

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52
Q

What are the indications for NIV in DMD?

A
  • Symptoms: fatigue, morning headache, restless sleep
  • PaCO2 >45mmHg
  • Nocturnal O2 desaturation under 88% for >5min
  • Max inspiratory pressure <60 cm H20
  • FVC <50% predicted
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53
Q

What are the six categories of causes of epilepsy?

A

Genetic (e.g. SCN1A), structural, metabolic (e.g, GLUT1 deficiency), infectious, (e.g. meningitis, encephalitis), immune (e.g. Rasmussen), unknown (e.g. FIRES)

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54
Q

What are the structural causes of epilepsy?

A
  • Malformations of cortical development or focal cortical dysplasia
  • Tuberous sclerosis, tumours, trauma
  • Vascular malformations or accidents (stroke)
  • Hippocampal sclerosis, hypothalamic hamartoma, HIE
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55
Q

Causes of seizures in neonates (OBE)

A
  • Ohtahara syndrome
  • BFNS - benign familial neonatal seizures
  • EME - early myoclonic encephalopathy
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56
Q

Causes of seizures in infancy (MB, MB, MD, W)

A
  • Malignant migrating partial seizures
  • Benign familial infantile seizures
  • Myoclonic epilepsy of infancy
  • Benign familial neonatal-infantile seizures
  • Myoclonic encephalopathy in non familial disorders
  • Dravet syndrome
  • West syndrome
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57
Q

What is the Rastelli procedure?

A
  • For truncus arteriosus repair

- Right ventricle to pulmonary artery conduit, and closure of VSD with a patch

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58
Q

Discuss the fundings in truncus arteriosus

A
  • Presents with cyanosis and heart failure once pulmonary pressures drop and pulmonary blood flow increases
  • Bounding pulses/water-hammer pulse due to truncus valve insufficiency. Active precordium
  • Systolic murmur with thrill, diastolic murmur due to incompetence
  • Single S2 with systolic ejection click
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59
Q

Discuss the findings in pulmonary atresia

A
  • PA with VSD or with intact VS
  • Even with VSD need PDA or collaterals
  • Without VSD need PDA or ASD
  • PAVSD presents similar to ToF but earlier and no tet spells - very active precordium, continuous murmurs ant + post due to collateral vessels. CXR - boot shaped, oligaemia. ECG - RAD, RAH, RVH
  • PAIVS - cyanosis at birth, tachypnoea, heart failure. Systolic murmur due to PDA or tricuspid regurg. CXR prominent RA, oligaemia. ECG: peaked P waves (RAH), V1 and B2 low RV activity
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60
Q

Treatment of truncus arteriosus

A
  • Rastelli procedure (right ventricle to pulmonary artery conduit, and closure of VSD with a patch)
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61
Q

Treatment of pulmonary atresia

A
  • PA with VSD - initial prostaglandin, then BT shunt, then full repair after 12 months with Rastelli (RV to PA conduit and closure VSD with patch)
  • PA with IVS - prostaglandin and BT shunt
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62
Q

What is the Norwood procedure?

A
  • 3 steps. For repair of HLHS
  • RV becomes main pump and PA becomes new aorta
  • Step 1 = BT shunt (aorta/subclavian to PA) + PA disconnected from pulmonary trunk, trunk attached to aorta and RV becomes main pump
  • Step 2 = Bidirectional Glenn (SVC to PA), take down BT shunt. Age 3m
  • Step 3 = Fontan (SVC and IVC into PA). Age 3-4y
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63
Q

Discuss the findings in hypoplastic left heart syndrome

A
  • Heart failure day 2-3 with cardiac shock.Cyanosis, pulm oedema, hepatomegaly, cool and pallor, lack of peripheral pulses as duct closes.
  • Loud single S2, no murmur
  • CXR - enlarged heart, pulm plethora and oedema
  • ECG: RAD, RVH, minimal LV activity
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64
Q

Treatment of HLHS?

A
  • Norwood procedure -> Glenn procedure -> Fontan procedure
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65
Q

Presentation of obstructed TAPVD

A
  • Usually infracardiac
  • Cyanosis, tachypnoea, cough, loud S2, may be no murmur
  • CXR: pulmonary oedema
  • ECG: RVH or normal
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66
Q

Presentation of non-obstructed TAVPD

A
  • Usually supracardiac or cardiac
  • Resp symptoms, lack of weight gain, RV heave, loud S1, clearly split S2 with loud P2, gallop rhythm, ejection systolic murmur RVOT due to high pulmonary flow, can be diastolic due to high tricuspid flow
  • CXR: snowman sign, right A + V enlargement, pulmonary plethora
  • ECG: RAD, RAH and RVH
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67
Q

Treatment of TAVPD

A
  • Usually prostaglandin
  • Surgery to connect pulmonary venous trunk to LA, division of anomalous connections, closure of ASD
  • Can be complicated by residual pulmonary hypertension
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68
Q

Key features of transposition of the great arteries

A
  • Loud S2, no murmur
  • CXR: egg on a string
  • ECG: may be normal
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69
Q

Key features of ToF

A
  • Ejection systolic murmur (RVOT), RV heave, continuous murmur with collaterals
  • CXR: boot shaped, reduced pulm markings
  • ECG: RVH, T+ve V1
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70
Q

Key features of tricuspid atresia

A
  • Single S2, VSD murmur
  • CXR: pulmonary oligaemia (unless large VSD)
  • ECG: LAD
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71
Q

Key features of Ebstein’s anomaly

A
  • Systolic murmur tricuspid incompetence
  • CXR: wall to wall cardiomegaly
  • ECG: superior axis, delta waves, large p waves > QRS
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72
Q

Key features of truncus arteriosus

A
  • Active precordium, systolic murmur, diastolic due to incompetent valve, systolic ejection click, collapsing pulse
  • CXR: pulm plethora
  • ECG: RVH + LVH (biventricular), may have ischaemia
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73
Q

Key features of TAPVD

A
  • Loud S1, split S2, systolic flow murmur RVOT and diastolic flow murmur tricuspid
  • CXR: snowman (infracardiac)
  • ECG: RAD
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74
Q

Key features of pulmonary atresia

A
  • PA with VSD - like a ToF
    • RVOT murmur or continuous murmur (PDA+ collaterals)
    • CXR: oligaemia
    • ECG: RAD, RVH
  • PA with IVS
    • Systolic murmur PDA + tricuspid incompetence
    • CXR: big RA, oligaemia
    • ECG: peaked p waves
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75
Q

Key features of hypoplastic left heart syndrome

A
  • Loud single S2, may be no murmur
  • CXR: pulmonary oedema and plethora, cardiomegaly
  • ECG: absent L sided voltages, RAD, RVH
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76
Q

What conditions are associated with aortic dilation/aneurysm/dissection?

A
  • Bicuspid aortic valve
  • Marfan’s syndrome
  • Ehlers Danlos (vascular type)
  • Loeys Dietz
  • Turner’s syndrome
  • NF1, tuberous sclerosis, Noonan’s
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77
Q

What does VACTERL stand for?

A
  • Vertebral
  • Anal atresia/distula
  • Cardiac anomalies
  • Tracheo..
  • Eosophageal fistula with oesophageal atresia
  • Renal anomalies (urethral atresia and hydronephrosis)
  • Limb anomalies (polydactyly, humeral hypoplasia, radial aplasia, proximally placed thumb)
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78
Q

What are the normal US:LS ratios at:

  • Birth
  • 3 years
  • 8 years
  • 18 years
A
  • Birth = 1.7
  • 3 years = 1.3
  • 8 years = 1
  • 18 years = 0.9
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79
Q

What does LEOPARD syndrome stand for?

A 
Lentigines
ECG
Ocular hypertelorism
Pulmonary stenosis
Abnormal genitalia
Retardation of growth
Deafness

(now called Noonan syndrome with multiple lentigines)

80
Q

Causes of hemihypertrophy

A

Beckwith Wiedemann
Isolated hemihypertrophy
Proteus syndrome
McCune Albright

81
Q

Causes of webbed neck

A

Turner syndrome

Noonan syndrome

82
Q

Causes of epicanthic folds

A

Noonan
Williams
Turner
Down

83
Q

Causes of hypertelorism

A

Noonan

William

84
Q

Causes of micropthalmia

A

CHARGE

Fetal rubella effects

85
Q

What does CHARGE syndrome stand for?

A 
Coloboma
Heart defects
Atresia choanae
Retardation of growth
Genital abnormalities
Ear abnormalities
86
Q

Brushfield spots are most commonly found in which patients?

A

Down syndrome

87
Q

What does CATCH-22 stand for?

A 
Cardiac defects
Abnormal facies
Thymic aplasia and T cell deficiency
Cleft palate
Hypocalcaemia, hypoparathyroidism 
22q11 deletion
(also get renal anomalies, developmental delay, late-onset psychiatric problems)
88
Q

What cardiac defects are most commonly seen in 22q11 deletion?

A

Conotruncal defects, most common:

Tetralogy of Fallot, interrupted aortic arch, VSD, truncus arteriosus

89
Q

What facial features are found in 22q11?

A

Long face
Ear anomalies (pits, overfolded, microtic)
Hypertelorism + hooded eyelids
Prominent nasal root/broad bridge, bulbous nasal tip
Small mouth
Micrognathia
Cleft or high palate

90
Q

Causes of LUSE murmurs

A
  • Ejection systolic: pulm stenosis, ASD, coarctation of the aorta
  • Innocent murmurs
91
Q

Causes of RUSE murmurs

A
  • Ejection systolic: aortic stenosis
  • Continuous: R BT shunt
  • Venous hum
92
Q

Causes of apex murmurs

A
  • Pansystolic: VSD, mitral regurg
  • Late systolic: mitral valve prolapse (Marfans)
  • Ejection systolic: aortic stenosis
  • Mid diastolic: mitral stenosis
93
Q

Causes of LLSE murmurs

A
  • Pansystolic: VSD or tricuspid regurgitation
  • Diastolic: aortic regurgitation or tricuspid stenosis
  • Still’s murmur
94
Q

Causes of murmurs in the back

A
  • Systolic: coarctation (between scapulae), peripheral pulmonary stenosis
  • Continuous: PDA
95
Q

Cardiac disease in Williams

A

Supravalvular aortic stenosis, pulmonary stenosis

96
Q

Cardiac disease in VACTERL

A

VSD

97
Q

Cardiac disease in Turners

A

Coarctation aorta, bicuspid aortic valve, aortic stenosis, hypertension, aortic dissection

98
Q

Cardiac disease in Tuberous Sclerosis

A

Rhabdomyoma

99
Q

Cardiac disease in Rubella

A

PDA,pulmonary stenosis

100
Q

Cardiac disease in Noonans

A

Pulmonary stenosis, hypertrophic cardiomyopathy

101
Q

Cardiac disease in Marfans

A

Aortic root dilatation and aneurysm, aortic or mitral regurgitation

102
Q

Cardiac disease in Homocystinuria

A

Medial degeneration of aorta and carotids, atrial or venous thrombosis

103
Q

Cardiac disease in Fetal Alcohol Syndrome

A

VSD, PDA, ASD, ToF

104
Q

Cardiac disease in Patau and Edwards

A

VSD, PDA

105
Q

Cardiac disease in Down Syndrome

A

AVSD, VSD, ASD

106
Q

Cardiac disease in 22q11

A

Interrupted aortic arch, truncus arteriosus, VSD, PDA, ToF

107
Q

Cardiac disease in CHARGE

A

ToF, truncus arteriosus, aortic arch anomalies

108
Q

Cardiac disease in Alagille Syndrome

A

Peripheral pulmonary stenosis

109
Q

Pneumonic for cerebellar exam

A

DANISH

- Dysdiadochokinesia
- Ataxia and rhombergs 
- Nystagmus
- Intention tremor
- Slurred speech (dysarthria)
    - Hypotonia
110
Q

Causes of right axis devation on ECG

A
  • Pulmonary stenosis, VSD, pulmonary hypertension, pulmonary regurg, RBBB, ostium secundum ASD
111
Q

Causes of left axis deviation on ECG

A
  • AVSD (endocardial cushion defects), tricuspid atresia, LBBB, ostium primum ASD, HOCM
112
Q

Causes of prolonged PR interval (1st degree HB) on ECG

A
  • Endocardial cushion defect eg AVSD
  • Ebstein’s anomaly
  • Acute rheumatic fever
  • Congenital block (maternal SLE)
113
Q

Complete RBBB on ECG

A

Post ventriculotomy

114
Q

ECG with RAH and delta waves

A

Ebstein’s anomaly

115
Q

How do you tell if there is LVH on an ECG

A

Tall R waves V5 and V6, deep S waves V1

116
Q

How do you tell if there is RVH on an ECG

A

Tall R waves V1 and V2, deep S waves V6
R Wave > S wave V1
Upright T wave in V1 (4d-6y)
RAD

117
Q

Loud S1 indicates..

A

Mitral stenosis or tricuspid stenosis

118
Q

Increased S2 splitting is heard in?

A

RBBB, pulmonary stenosis, pulmonary hypertension

(anything that delays closure of the pulmonary valve), ASD

119
Q

Reversed S2 splitting is heard in?

A

LBBB, severe aortic stenosis, coarctation of the aorta, large PDA

120
Q

Loud A2 is heard in?

A

Hypertension and aortic stenosis

121
Q

Loud P2 is heard in?

A

Pulmonary stenosis and pulmonary hypertension

122
Q

Single S2 is heard in?

A

Pulmonary or aortic atresia or severe stenosis, pulmonary hypertension, truncus arteriosus

123
Q

P2 may not be audible in?

A

Tetralogy of fallot, transposition, pulmonary stenosis, hypertension

124
Q

S3 is due to?

A

Rapid diastolic filling of ventricle

  • Young people, pregnancy
  • Pathological: heart failure, AR, MR, VSD, PDA
125
Q

S4 is due to?

A

Atrial contraction against a poorly compliant ventricle

- AS, MR, pulmonary stenosis

126
Q

What are the causes of a goitre?

A 
Autoimmune thyroiditis
Grave’s disease
Simple goitre – normal TFTs and no antibodies in peripubertal girls
Hyperplasia
Diffuse nodular non-toxic goitre
Subacute thyroiditis (inflamed gland)
Carcinoma
Infiltration (Langerhan cell histiocytosis)
Euthyroid causes of goitre

Commonest causes world wide – dietary iodine deficiency as compensatory hypertrophy

In exam - autoimmune thyroiditis (thyroid antibodies)

Multinodular goitre is rare and you would need to exclude malignancy

127
Q

What are the causes of hyperthyroidism?

A

Inherited - activation (McCune-Albright)

Acquired:
Grave’s
Drugs (thyroxine)
Iodine deficiency
Thyroiditis
128
Q

What are the causes of hypothyroidism?

A

Inherited:
Thyroid aplasia
Lingual thyroid
Dyshormogenesis

Acquired:
Hashimoto’s
Drugs (lithium, amiodarone)
Iodine deficiency
Radiation
Trauma
Thyroiditis
Removal of thyroid due to previous hyperthyroidism
129
Q

Causes of an anterior neck lump

A

Thyroglossal cyst

Branchial cyst

Cystic hygroma

Lymph node

Haemangioma

Sternocleidomastoid tumour

130
Q

Describe chorea and it’s causes

A
  • Occurs secondary to pathology affecting corpus striatum. Rapid movements, jerky
Occurs in: 
- cerebral palsy
- Sydenham’s Chorea
- Wilson’s Disease
- SLE
- Moyamoya disease. 
Also degenerative conditions such as: 
- Ataxia telangiectasia
- Huntington’s Chorea
- Lesch Nyhan syndrome
- PKU
131
Q

Describe athetosis and it’s causes

A
  • Occurs secondary to pathology affecting the outer putamen
  • Slow writhing movements of proximal extremities
  • Can accompany chorea in dyskinetic CP, Wilson’s disease, Lesch-Nyhan, ataxia telangiectasia
132
Q

Describe dystonia and it’s causes

A
  • Sustained abnormal posturing
  • Can be brought on by dystonic spasms
  • Causes include: drugs (tardive dystonia e.g. anti psychotics), degenerative disorders such as Wilson’s, Hallervorden–Spatz diseases and hemiplegia
133
Q

Causes of postural tremor

A
  • Most notable when arms outstretched in front of the body (but can occur through a range of movement).
  • Causes: thyrotoxicosis, phaeochromocytoma, familial tremor, physiological tremor, Wilson’s disease
134
Q

Causes of intention tremor

A
  • Marked at the end points of movement.

- Causes include cerebellar pathology (and Wilson’s disease)

135
Q

Describe myoclonus and it’s causes

A
  • Sudden, disorganised, irregular contraction of a muscle or muscle group.

Causes include:

  • seizure disorder (infantile spasms, benign juvenile myoclonic epilepsy)
  • degenerative conditions (neurocutaneous syndromes, Menkes, TaySachs, Wilson’s)
  • structural brain anomalies (Aicardi syndrome, porencephaly)
  • CVA
  • infections
  • metabolic disorders
136
Q

How to test visual acuity at different ages

A

Visual acuity (with glasses)

< 3 months – face – fix and follow 90 degrees by six weeks, 180 degrees by 3 months

< 6 months - watch a red ball drop by 6 months

9 months – pick up a raisin

12 months – pick up 100s and 1000s

2-3 years – naming pictures

5 years – Snellen chart

137
Q

Causes of facial nerve palsy

A

Unilateral:
Pontine lesion - tumour/CVA/infectionPosterior fossa - tumour/meningitisPeripheral nerve – GBS, Bell’s palsy, Ramsay Hunt, parotid gland tumour, petrous temporal fractureRamsay Hunt – check ears for vesicles

Bilateral:

  • Moebius (absent CN VII +/- CN VI, Poland syndrome)
  • Cerebral palsy
  • Neuromuscular junction: Myasthenia gravis, infant botulism (ptosis + opthalmoplegia).

Dystrophy:
- Muscle – myotonic dystrophy (ptosis, distal weakness, myotonia > 5 years, myopathic facies, cataracts), facial-scapular-humeral dystrophy

138
Q

Discuss the primitive reflexes and the ages they appear and a re incorporated/disappear

A
  • Stepping/placing - birth to 6 weeks
  • Sucking and rooting - birth to 4m (awake) and 6m (asleep)
  • Palmar grasp - birth to 3 months
  • Moro reflex - birth to 4 months
  • ATNR - 2 to 6 months
  • Galant reflex - until 9 months
  • Landau reflex - 1st stage 4m, 2nd stage 6m, gone by 2 years
  • Neck-righting reflex - 6m to 2 years
  • Parachute reflex - usually by 9 months, doesn’t disappear
139
Q

What investigations would you request for developmental delay?

A
  • Microarray
  • Fragile X analysis
  • TFTs
  • CK (DMD)
  • U+Es, calcium (Di George, Williams)
  • Lead and biotinidase
  • Ophthalmology and audiology assessment

Second line:

  • Metabolic work up (if regression, organomegaly, coarse facies, family history)
  • MRI head (if micro/macrocephaly, focal neurology, seizures)
  • EEG (seizures, neurodegenerative, regression)
140
Q

Testing visual acuity at different ages

A
  • 12 weeks: fix and follow 180 degrees horizontal and vertical plains
  • 10 months: pick up small raisin
  • 2-3 years: picture book close up and further away to identify simple objects
  • 4 years: letters/ Snellen chart

Test each eye separately (usually only tolerated over age 2-3y)

141
Q

Methods of testing hearing

A
  • Evoked otoacoustic emissions - sound stimulus produces an acoustic emission from the cochlea
  • Distraction testing <15m - baby turns to look for sound
  • Co-operative tests
  • Speech discrimination tests
  • Performance test
  • Pure tone audiometry age 4+
  • Electrical response audiometry
  • Brainstem auditory evoked responses - newborn screening in NZ. 3 electrodes on head which pick up transmission of auditory signal from cochlea to brain stem
142
Q

Pathological causes of bottom shuffling

A
  • Spinal pathology e.g. spina bifida
  • Neuromuscular problem e.g. muscular dystrophy, spastic diplegia
  • Bone/joint problems e.g. DDH, OI
  • Hypotonia

Therefore with bottom shufflers always need full neuro exam of limbs and hips/spine

143
Q

Pathological causes of early handedness

A

Handedness usually fully appears by 3 year.
Red flag = handedness before 18m

  • LMN lesions: brachial plexus palsy (birth trauma)
  • UMN lesions: hemiplegia
  • Visual field problems
  • Congenital abnormalities/MSK problems/trauma

Need detailed history including birth history + full neuro exam + vision

144
Q

Discuss the causes of facial weakness

A
  • Bilateral facial involvement with ptosis or ophthalmoplegia: Myasthenia Gravis, Moebius syndrome, infantile botulism, myotonic dystrophy
  • Bilateral facial involvement without ptosis: bilateral VII palsy UMN (CP) or LMN (Guillain-Barre), facioscapulohumeral dystrophy
  • Unilateral facial involvement - unilateral LMN VII palsy (Bell’s palsy) or UMN (hemiplegia), or asymmetric crying facies (hypoplasia not palsy)
145
Q

Differential diagnosis for autism spectrum disorder (DIFFERENT CHILD)

A

D - deafness, Down syndrome, disordered mood
I - intellectual impairment
F - Fragile X syndrome
F - Fetal alcohol syndrome, fetal TORCH infection
E - Expressive language disorder
R - Retts syndrome (girls)
E - Elective mutism
N - neurodegenerative, neurocutaneous (NF1), neglect
T - tuberous sclerosis
C - cerebral palsy, cerebral tumour, chromosomal
H - hyperactivity ADHD, happy puppet (Angelman)
I - inborn errors of metabolism
L - Laundau-Kleffner (acquired aphasia), lead intoxication
D - disintegrative disorder

146
Q

Causes of lymphadenopathy, cervical or generalised (MATCHESK)

A

M - malignancy (neuroblastoma, leukaemia, lymphoma, rhabdo), mycobacterium avium, measles, medications (phenytoin, isoniazid, allopurinol)
A - atopic dermatitis, adenovirus, autoimmune (JIA, SLE)
T - toxoplasma gondii, typhoid (salmonella typhoid), TB, teeth caries
C - CMV, cat scratch disease, chlamydia, coxsackie virus
H - HIV, herpes, HSV, Hep A/B/C, Hodgkins lymphoma, histiocytosis
E - EBV, enterovirus, exanthemata (rubella, roseola, measles), endocrinopathies (Graves, Addison), endocarditis
S - streptococcus A, staph, systemic viral infections, sarcoidosis, storage diseases (Gaucher, Niemann-Pick), serum sickness, sepsis, syphilis
K - Kawasaki disease

147
Q

What is triple P?

A

Online parenting course/ behaviour programme

148
Q

What are the side effects of aripiprazole?

A

(and other antipsychotics)

  • Weight gain
  • Acute dystonia
  • Tardive dyskinesia
149
Q

What is a normal US:LS ratio, and what are causes of abnormalities?

A

At birth, the ratio should be 1.7; at 3 years, it should be 1.3; at 8+ years, it should be 1.0

If the US:LS is increased (meaning short limbs) - consider skeletal dysplasia, hypothyroidism

If the US:LS is decreased (meaning short trunk) - consider vertebral irradiation, scoliosis, or a short neck (Klippel Feil syndrome)

150
Q

What is dilated cardiomyopathy?

A

The presence of LV dilatation and LV systolic dysfunction in the absence of abnormal loading conditions (i.e. hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment

151
Q

What are the causes of dilated cardiomyopathy?

A
  • Idiopathic
  • familial/genetic
  • viral and/or immune
  • alcoholic/toxic
  • post myocarditis
  • endocrine (acquired DCM)
  • nutritional deficiencies (acquired DCM)
  • combined skeletal and cardiac myopathy (eg Becker/Duchenne, Emory Dreifuss syndrome, end-stage Infantile Pompe disease).
152
Q

What are the causes of restrictive cardiomyopathy?

A
  • idiopathic
  • familial (usually AD)
  • result from other systemic disorders (i.e. amyloidosis, sarcoidosis, anthracycline toxicity)⁴.
153
Q

What are the causes of hypertrophic obstructive cardiomyopathy?

A
  • The aetiology is heterogeneous, usually familial, with autosomal dominant inheritance predominating
  • Infantile Pompe Disease (associated hypotonia)
  • Fatty acid oxidation defects
  • Associated with arrhythmias and sudden premature death
154
Q

What are the causes of short stature (IS NICE)

A 
I
Idiopathic (constitutional)Intrauterine (small for gestational age, TORCH, foetal alcohol syndrome)
S
Skeletal cause (dysplasias, OI)Spinal defects (scoliosis, kyphosis)

N
Nutritional (malabsorption)Nurturing deprivation

I - iatrogenic (steroids, radiation)

C
Chronic disease (CRF, CF, CHD, IBD) - often thin
Chromosomal (Turner, Downs)

E - endocrine
Hypopituitarism
Growth hormone deficiency
Hypothyroidism
Cushing’s
IDDM
Pseudo-hypoparathyroidism
155
Q

Causes of obesity and short stature

A 
Endocrine:
Hypothyroidism
Hypopituitarism
Growth hormone deficiency
Cushing’s
Pseudohypoparathyroidism

Syndromes:
Prader Willi
Down’s
Bardet-Biedl

156
Q

Indications for and use of growth hormone and when to stop

A

Indications:

  • Height <1st centile or growth velocity <25th centile over one year
  • Specifically: chronic renal failure/Turner’s/growth hormone deficiency (especially if hypoglycaemic)
  • Need to have excluded sex steroid/adrenal/thyroid abnormality/chronic disease
  • Need bone age to demonstrate not yet fused

Give as daily subcutaneous injections (approximately six times per week). Monitor - three monthly to check growth parameters

Contraindications:
- Fanconi’s/Down’s/Bloom/malignancy/type I DM (GH is insulin antagonist)

Stop once:

  • Bone age is >13.5 years in girls, 15.5yrs in boys
  • Height is >10th centile for adult height
  • No response (growth velocity <50% for bone age or <4 cm/yr)

Side effects: benign intracranial hypertension
SUFE/gynaecomastia

157
Q

What are the stages of puberty in males/females

A 
For females:
Breast development
Pubic hair development
Height spurt (breast stage 4, pubic hair stage 3)
Menarche
For males:
Testicular and scrotal enlargement
Pubic hair development
Penile growth
Height spurt (pubic hair stage 4)
158
Q

Discuss the Tanner Stages

A

Breast development:

Preadolescent
Breast bud
Breast and areolae enlarged and elevated, but no separation of contours
Areola and papilla form mound above contour of breast
Mature

Pubic hair development:

Preadolescent
Long, fair, straight hair - sparse, mainly labia/base of penis
Darker, coarser, curlier - sparse
Adult-type hair - smaller area covered than in adults
Adult - spread to medial surface of thighs

Genital development (boys):

Preadolescent
Enlargement of scrotum, with reddening and thickening of the scrotal skin
Enlargement of the penis and further growth of the scrotum
Further growth of the penis and scrotum - darker scrotal skin
Adult

159
Q

What are the causes of pubertal delay

A

Constitutional delayed puberty (and growth) - familial or idiopathic

Gonadotrophin deficiency (hypogonadotropic hypogonadism) - FSH/LH low:

  • Severe and chronic malnutrition
  • Chronic diseases – thalassaemia, sickle cell anaemia, CKD, CHD, JIA, connective tissue diseases, CF, IBD
  • Endocrine – hypothyroidism, growth hormone deficiency, hypopituitarism
  • Syndromes – Kallmann’s, Prader-Willi
  • Hypothalamic/pituitary damage – trauma, infection, irradiation, tumours, congenital malformations, surgery
  • Hormones e.g. leptin (synthesised in fat)

Primary gonadal failure (hypergonadotropic hypogonadism) - FSH/LH high:

Boys:

  • Syndromal – Klinefelter’s syndrome (47, XXY)
  • Surgical – cryptorchidism/post-surgery for cryptorchidism, previous testicular torsion, post-radiation testes for malignancy

Girls:

  • Syndromal – Turner’s syndrome (primary ovarian failure)
  • Autoimmune damage to ovaries (especially if associated autoimmune conditions)
  • Iatrogenic – Total body irradiation/chemotherapy for malignancy
160
Q

What are the complications of Turner’s syndrome?

A
  • Chronic OM, sensorineural hearing loss
  • Coeliac, IBD, hypothyroidism, T2DM, obesity
  • Bicuspid aortic valve (50%), coarctation aorta (30%), aortic root dilation, hypertension
  • Horseshoe kidney or bilateral drainage
  • Scoliosis, congenital hip dysplasia, osteoporosis
  • Spatial awareness and maths difficulties, normal IQ
161
Q

What are the management principles in Turners syndrome?

A

Growth:

  • GH increases height velocity and ultimate stature in most, up to +10cm
  • Require high dose
  • GH also improves osteoporosis

Pubertal induction and HRT:

  • Psychological impact of delayed puberty vs early oestrogen which reduces final height
  • Premarin or estrace is given daily for 3-6 months to induce puberty. Start at 12-15 years of age
  • Then oestrogen is given on days 1-23 and progesterone is added on days 10-23 so that withdrawal bleeding occurs
  • Patients must have life-long oestrogen for bone health – but it must be given with progesterone to minimise risk of endometrial cancer

Fertility:

  • Patients have low fertility but should not rely on this as method of birth control
  • They may require a donor oocyte
  • There is a mortality risk during pregnancy (aortic dissection)
162
Q

Short stature exam, causes of:

  • Increased US:LS ratio
  • Decreased US:LS ratio
A
  • Increased = short limbs e.g. skeletal dysplasia, hypothyroidism
  • Decreased: = short trunk e.g. scoliosis, OI, spondylodysplasia, or short neck (Klippel-Feil sequence)
163
Q

What are the normal arm span measurements at:

  • Birth to 7 years
  • 8-12 years
  • 14 years
A
  • Birth to 7 years: -3cm
  • 8-12 years: 0cm
  • 14 years: +1cm (girls), +4cm (boys)
164
Q

What are the causes of a positive Gower’s?

A
  • Muscular dystrophy - examine lung, cardiac, scoliosis
  • Myopathy
  • SMA - fasciculations
  • NMJ - fatigability
  • Metabolic/endocrine - Cushing’s, steroid use
  • Inflammatory - dermatomyositis
165
Q

What are the side effects of cyclosporine?

A
  • Gum hypertrophy
  • Hirsutism
  • Tremor
  • Hypertension
166
Q

When would you do a neurological examination in a gastrointestinal exam?

A
  • Jaundice or liver disease in > 5 year old (ataxia, dysarthria or dystonia in Wilson’s, ataxia or peripheral neuropathy in Vitamin E deficiency
  • Malabsorption or pigementary retinopathy (e.g. abetalipoproteinemia and Vit E def)
  • Microcephaly (congenital TORCH with develop delay)
  • In older children assess gait and then lower limbs
  • In infants do a gross motor developmental approach and then lower limb assessment
167
Q

When would you do a respiratory examination in a gastrointestinal exam?

A

If any suggestion of liver disease, respiratory distress, or diabetes (think CF). Full respiratory assessment + cough + sputum sample

168
Q

When would you do a cardiac examination in a gastrointestinal exam?

A

Any evidence of jaundice or hepatomegaly in an infant (PPS in Alagille) or cystic fibrosis (cor pulmonale), then a full cardiac exam is warranted

169
Q

Features of achondroplasia

A
  • AD, FGFR3 gene
  • Risk sudden death from cervical cord compression due to small foramen magnum
  • Hydrocephalus may require shunting
  • Spirometry for reduced lung function
  • Increased risk of OSA and pulmonary hypertension - do cardiac exam
  • Rhizomelic shortening, frontal bossing, flattened nasal bridge, short and broad hands with trident appearance, laxity of the ligaments
  • Proximal tibial bowing
  • Spine gibbus in infancy (structural kyphosis) then lumbar lordosis and scoliosis in adolescent
  • Chronic otitis media, dental malocclusion
  • Plot on special achondroplasia charts
  • Examine lower limb reflexes for evidence of spinal cord compression
170
Q

Associations with aortic stenosis

A
  • Turner syndrome
  • Williams syndrome
  • Coarctation of the aorta (particularly valvular stenosis with bicuspid aortic valve)
  • Other cardiac anomalies e.g. HLHS, mitral valve abnormalities, HOCM
171
Q

Clinical and investigation findings in aortic stenosis

A
  • Usually asymptomatic
  • May have collapsing pulse if associated incompetence, may have narrow pulse pressure or weak peripheral pulses if severe AS
  • If severe may have higher BP in right arm than left
  • Ejection systolic murmur RUSE and LLSE, harsh, radiating into neck, may have early diastolic murmur of AR
  • Ejection click LLSE and apex
  • In seere have quiet A2
  • Suprasternal and carotid thrill
  • Apex beat may be displaced and forceful
  • CXR: may have cardiomegaly with prominent LV
  • ECG: may have LVH (tall R waves V5 and V6), inverted T waves V5+V6. If severe may have signs of ischaemia
172
Q

Causes of a collapsing pulse

A
  • Aortic regurgitation
  • PDA
  • Large AV fistula
173
Q

Causes of slow rising pulse

A

Aortic stenosis

174
Q

Causes of continuous murmurs

A
  • PDA
  • ASD
  • BT shunt
  • AV malformation
  • Collateral vessels
  • Venous hum
  • Peripheral pulmonary stenosis
175
Q

Indication for closure of VSD?

A
  • Symptomatic - may need diuretic or ACE inhibitors

- Or Qp:Qs ratio > 2 (indicates high pulmonary flow)

176
Q

Causes of raised JVP

A
  • Right heart failure
  • Pulmonary hypertension
  • Tricuspid regurgitation
  • Constrictive pericarditis/cardiac tamponade
177
Q

Investigations in a child with cerebral palsy

A
  • MRI head - may show abnormalities in up to 90%(malform, calcifications, hydrocephalus, PVL, cortical dysplasias)
  • TORCH screen in infants
  • Urinary metabolic screen
  • Chromosomal abnormalities
  • Lumbar puncture in dyskinetic CP (glut 1 transport deficiency is treatable)
178
Q

Seizures associated with SCN1A mutations

A
  • Febrile seizures
  • Generalised epilepsy with febrile seizures +
  • Dravet syndrome
  • Intractable childhood epilepsy with GTCS
  • Lennox-Gastaut
  • Vaccine related encephalopathy and seizures
179
Q

Causes of neural tube defects

A
  • Nutritional: folate deficiency, high BMI
  • Temperature elevation (fever, sauna)
  • Diabetes, drugs (sodium valproate, carbamazepine)
  • Genetic causes including trisomies 13,18,21
180
Q

What are the causes of micropthalmia

A
  • Usually congenital, can be associated with other eye problems such as colobomas or cataracts
  • Often part of a syndrome: trisomy 13, Wolf-Hirschhorn, Triploidy, Pierre-Robin sequence, Treacher-Collins
  • Congenital infections (e.g. rubella)
  • Vitamin A deficiency in pregnancy
  • Radiation exposure in pregnancy
181
Q

Investigations for precocious puberty

A

Blood tests:
- LH, FSH, morning testosterone, oestradiol
- GnRH stimulation test (LH and FSH responses)
Adult response = true, prepubertal response = pseudopuberty
- DHEAS (dehydroepiandrosterone sulphate) – high in adrenal tumours
- HCG – produced by tumours
- TFTs

Imaging:
- Bone age (most important)
Normal – premature adrenarche, premature thelarche, ingestion of exogenous sex steroids
Accelerated – central precocity, adrenal/ovarian pathology (tumour), McCune-Albright syndrome
- Skeletal survey – suspected McCune-Albright syndrome (polyostotic fibrous dysplasia)
- Ultrasound – pelvis, testes, adrenal glands - tumours
- Brain MRI – intracranial pathologies e.g. hypothalamic hamartoma, pinealoma, hydrocephalus, third ventricular cysts

182
Q

Causes of precocious puberty

A

Premature adrenarche, premature thelarche

True/central precocity:

  • More common in girls - can be idiopathic in girls. Always abnormal in boys
  • Synchronous, suggests intact HPA axis
  • FSH/LH high
  • Idiopathic
  • Syndromes - McCune-Albright syndrome, NF1, Russell-Silver syndrome
  • Severe hypothyroidism
  • Intracranial – trauma, tumours, haemorrhage, hydrocephalus

Peripheral precocity:

  • Not synchronous, pituitary independent
  • FSH/LH low
  • Adrenal: Cushing syndrome, Congenital adrenal hyperplasia, Tumours
  • Gonadal: Ovarian cyst/tumour (e.g. granulosa cell); testicular tumour (eg Leydig cell tumour), McCune-Albright syndrome
  • Ectopic: Gonadotropin secreting tumour HCG e.g. hepatoblastoma, dysgerminoma, Exogenous hormone administration e.g. ingestion of OCP
183
Q

Investigations in T1DM

A
  • HbA1c
  • BP + Urine albumin:creatinine ratio to look for microalbuminuria, U+Es
  • Ophthalmological fundoscopy - diabetic retinopathy
  • Lipid profile
  • Thyroid function tests
  • Coeliac screen
  • Anti-adrenal antibodies
184
Q

Causes of diabetes mellitus

A

Autoimmune - IDDM/NIDDM/DIDMOAD (DI, DM, optic atrophy, deafness)

Syndromes:

  • Shwachman-Diamond syndrome
  • Pearson syndrome
  • Friedreich’s ataxia

Cystic fibrosis
Infiltrative - haemosiderosis
Endocrine - Cushing’s

185
Q

Autoimmune associations of T1DM

A

Thyroid disease
Coeliac disease
Addison’s disease
Vitiligo

186
Q

Causes of anaemia

A

Microcytic causes

  • Iron deficiency: Leuconychia, Angular stomatitis
  • Thalassaemia: Chip-munk facies, Jaundice, Hepatosplenomegaly, Desferoxamine signs (scars, retinopathy, cataracts)
  • Chronic disease

Macrocytic causes

  • Folate/B12: Glossitis, Peripheral neuropathy (absent knee, present ankle, vibration/position loss)
  • Chronic liver disease

Normocytic causes:

Low reticulocyte count

  • Diamond Blackfan (abnormal morphology in some)
  • Transient erythroblastosis of childhood

High reticulocyte count

  • Bleeding - nose, urine, bowels
  • Haemolysis (instrinsic or extrinsic)
  • Infiltrative - bone marrow infiltration
187
Q

Causes of hypopituitarism (CRASH)

A

Craniopharyngioma, CHARGE syndrome, combined pituitary hormone deficiency

Radiotherapy

Acquired brain injury, asphyxia/neonatal encephalopathy

Septo-optic dysplasia

Holoprosencephaly, Histiocytosis (Langerhan’s cell)

188
Q

Radiation effect on pituitary hormones

A
  • 18Gy - GH deficiency
  • 30-50Gy - GH, TSH, ACTH deficiency
  • <30Gy causes precocious puberty, >30Gy causes delayed puberty
  • > 60Gy - ACTH, TSH, LH/FSH deficiency
  • All are irreversible and progressive
189
Q

Features of holoprosencephaly (HPE FUSED)

A
  • Hypotonia, hypothalamic dysfunction, head microcephaly, hydrocephalus
  • Pituitary abnormalities
  • Epilepsy
  • Feeding difficulties
  • Uncoordinated oral-sensory function
  • Spina bifida, sleep disturbance
  • Esophageal reflux
  • Developmental delay
190
Q

Causes of peripheral neuropathy

A

Peripheral neuropathy (DAM IT BICH)

D = Drugs - isoniazid, vincristine, phenytoin, nitrofurantoin, cisplatin, heavy metals, amiodarone

A = Alcohol

M = Metabolic – diabetes, CRF

I = Infective – GBS but usually predominantly motor

T = Tumour (leukaemia, lymphoma)

B = B12 deficiency

I = Idiopathic

C = Connective tissue disorder – SLE, PAN

H = Hereditary – HSMN

191
Q

Rasopathies

A

NF1
Noonans
Legius

192
Q

Measurement and causes of pulmonary hypertension

A

Mean PA pressure >25mmHg (use RV systolic pressure as surrogate marker)

Idiopathic
Medications
Secondary to congenital heart disease
Secondary to L heart issues (systolic or diastolic dysfunction)
Hypoxaemia (lung disease)
Thromboembolic
Multifactorial (e.g. sarcoidosis)
193
Q

Issues post Fontan

A
  • Cardiac failure (esp if RV as main ventricle pumping systemic circulation) - no evidence ACE - or B-blockers work
  • Thromboembolism - stroke or PE. Aspirin or warfarin prophylaxis
  • Arrhythmias and heart block - treat to maintain sinus rhythm
  • Valvular dysfunction - replace valves and fix stenosis as needed
  • Hypoxia (should have near normal saturations) - veno-venous collaterals, AVM, patent fenestration
194
Q

What are the causes of CKD in children?

A
  • Glomerulonephritis 30% esp FSGS, SLE, RPGN, IgA nephropathy, HSP, mesangiocapillary GN
  • CAKUT 30%
  • Hereditary nephropathies (nephronophthisis, cystinosis) 20%
  • Other (HUS, nephrotoxins) 20%
195
Q

Discuss GFR in CKD

A

> 30: monitor (stage 1-3),prevent + manage complications
15-30: medical manipulation (stage 4), symptomatic
<15: dialysis imminent/commenced (stage 5-5D), waiting for transplant

196
Q

Management of CKD (URAEMIAS)

A
  • Uremic complications - neuropathy, encephalopathy
  • Renal replacement therapy - dialysis and transplant
  • Acid-base status
  • Electrolyte and fluid management including hypertension
  • Mineral and bone disease
  • Intake (diet, nutrition), immunisations, immunosuppressants
  • Anaemia + EPO
  • Stature (growth +/- GH)
197
Q

Systems review in relation to CKD

A
  • General health - energy, school, exercise tolerance
  • Urinary - polyuria, anuria, nocturia, bedwetting
  • Gastrointestinal - N+V, abdo pain, diarrhoea, anorexia
  • Cardiac - hypertension, oedema, SOB
  • Neurological - neuropathy, encephalopathy, seizures, paresthesia
  • Growth - weight, height, GH
  • Skin - itching, bruising
  • Skeletal - bone pain, muscle cramps, weakness
  • Fluid intake - inc overnight

RACP Clinical Exam (2 decks)

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