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BPT Clinical exam > Short case > Flashcards

Short case Flashcards

1
Q

CXR with egg on a string is associated with ______

A

TGA

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2
Q

Truncus arteriosus is associated with _____ pulses

A

Bounding pulses

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3
Q

What kind of murmur is associated with pulmonary atresia?

A

Continuous murmur

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4
Q

Hypertrophic cardiomyopathy can be associated with which conditions?

A

Errors of metabolism (Pompe), Noonan’s, Neuromuscular disorder (Fredreichs ataxia)

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5
Q

What medications would you avoid in WPW?

A

Digoxin or CCBs

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6
Q

What is the UL:LL ratio at birth?

A

1.7

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7
Q

What is the UL:LL ratio at age 3?

A

1.3

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8
Q

When does the UL:LL ratio become close to 1?

A

At about age 8

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9
Q

A higher US:LS ratio (short limbs) might indicate?

A

Skeletal dysplasia, hypothyroidism

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10
Q

A lower US:LS ratio (short trunk) might indicate?

A

Vertebral irradiation, scoliosis, or alternatively due to a short neck (Klippel Fiel syndrome)

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11
Q

In a short stature exam; you ask them to put thumbs to shoulders -> this overshoots.

What does this mean?

A

It means, proximal limb shortening (rhizomelic)

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12
Q

What does Rhizomelic mean and what can it be associated with?

A

Proximal limb shortening

Associated with achondroplasia, hypochondroplasia

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13
Q

In a short stature exam; you ask them to put thumbs to shoulders -> this does not reach shoulder.

What does this mean?

A

Middle segment (mesomelic) or distal segment shortening (acromelic)

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14
Q

What is clinodactyly?

A

Curved pinky finger

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15
Q

A shortened fourth metacarpal may be indicative of?

A

Pseudohypoparathyroidism, Turner’s Foetal ETOH

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16
Q

Short stature differential can be broken down into ISNICE. What does this stand for?

A 
I - Iatrgogenic and Idiopathic
S - Skeletal and spine
N - Nutritional and nurturing
I -  Intrauterine
C - Chronic disease or Chromosomal
E - Endocrine causes
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17
Q

What are some endocrine causes for short stature?

A

Hypopituitarism, GH deficiency, Cushings, Hypothyrodism, IDDM, Pseudohypoparathyroidism

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18
Q

7 common syndromes for short stature?

A 
PWS
Bardet Biedel
Russell Silver
Fetal alcohol syndrome
Turners syndrome
McCune Albright syndrome
Alstrom syndrome
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19
Q

Hyperconvex nails can be seen in which syndrome?

A

Turners

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20
Q

Koilynchia is seen with?

A

Fe deficiency

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21
Q

Leukonychia is assoc with?

A

Hypoalbuminism and CLD

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22
Q

________ head shape is seen with Russel silver syndrome?

A

Traingle

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23
Q

Frontal bossing is seen with?

A

Rickets and thalassemia

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24
Q

A large fontanelle is seen with? (3)

A

Hypothyroidism, russell silver and rickets

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25
Q

Dry hair is seen with?

A

Hypothyroidism

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26
Q

Hypertelorism is seen with? (2)

A

Noonan and William syndrome

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27
Q

Epicanthic folds seen in? (4)

A

Williams, Noonan, Turners and Down syndrome

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28
Q

Ptosis is seen with which syndrome?

A

Noonan and pseudohypoparathyroidism

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29
Q

Nystagmus is seen with which short stature syndrome?

A

Septo-optic dysplasia

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30
Q

Upward gaze palsy is associated with which tumour?

A

Pineal tumour

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31
Q

Midface hypoplasia is seen with?

A

FAS

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32
Q

What investigations/Ax for a child with primary amenorrhea?

A
  • Tanner staging and ax for features of Turners
  • Bloods - FSH, TSH, Prolactin, LH; consider CAH screening, testosterone, consider genetics (testosterone), if malnourished - consider HbA1C/fasting BGL, coeliac serology
  • Imagining: MRI/US of pelvis, pituitary MRI if low LH
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33
Q

How do you investigate for delayed puberty?

A
  • Parental age of puberty
  • Assessment - growth and weight and nutrition, underlying chronic disease, sense of smell, Tanner staging
  • Bloods - TSH, LH, FSH, sex hormones, prolactin and KARYOPTYPE
  • Consider nutritional bloods and chronic illness screen?
  • Imaging - bone age, consider pelvic US,
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34
Q

What is delayed puberty defined as?

A

Absence of breast development (breast buds) by age 12-13 in girls or absence of testicular enlargement (>4mL or 2-3cm
length) by age 13-14 in boys

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35
Q

What is precocious puberty defined as?

A

Onset before 8 years in girls, and before 9 years in boys

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36
Q

Cafe aut lait spots + precocious puberty =. ?DDX

A

NF1, Mc-A, Russell-Silver

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37
Q

Definition of short stature?

A

Height is >2 SD below mean

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38
Q

What investigations should you consider in short stature?

A 
FBC, UEC, LFT, CMP, CRP
TFTS, Coeliac serology, 
Karyotype
Bone age
Consider MRI B
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39
Q

When do you consider supplementing with GH?

A

If GH deficiency

OR if short stature is interfering with psychosocial wellbeing

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40
Q

Side effects of GH?

A
  • Most common: Headaches
  • Slightly higher risk of IIH, increased intraocular pressure, SCFE, worsening of existing scoliosis
  • PWS: risk of OSA
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41
Q

Indication for GH in Turners syndrome?

A

GH therapy as soon as height falls below 5th centile (on Turner specific charts)

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42
Q

Which myotome is responsible for shoulder abduction?

A

C5

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43
Q

Which myotome is responsible for shoulder adduction?

A

C5-C8

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44
Q

Which myotome is responsible for elbow flexion?

A

C5, C6

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45
Q

Which myotome is responsible for elbow extension?

A

C7, C8

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46
Q

Which myotome is responsible for is responsible for wrist flexion?

A

C6, C7

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47
Q

Which myotome is responsible for wrist extension?

A

C6, C7

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48
Q

Which myotome is responsible for hand movements?

A

C8, T1

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49
Q

Biceps reflex correlates to?

A

Musculocutaneous branch - C5

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50
Q

The Brachioradialus reflex correlates to ?

A

C6 - radial nerve

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51
Q

The triceps reflex correlates to ?

A

Radial nerve - C7 C8

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52
Q

How do you test coordination with upper limbs? (3)

A

Cerebellar reboud
FInger nose test
Dysdiadochinesia

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53
Q

What are the four functional movements to test for?

A

Buttons/laces?
Writing?
Threading beads?
Using comb

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54
Q

List 5 upper motor neuron signs?

A 
Hypertonia
Clonus
Hyperreflexia
Wasting
Reduced power
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55
Q

List 5 lower motor neuron signs

A 
Hypotonia
Hyporeflexia
Fasciculations
Wasting
Reduced power
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56
Q

4 differentials for upper motor neuron lesion?

A
  • Hemiplegia
  • Cerebral palsy
  • Spinal cord lesions
  • Bilateral stroke/tumoour
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57
Q

4 differentials for LMN lesions?

A
  • SMA
  • Peripheral neuropathy
  • Muscle - myopathy, dermatomyositis
  • Cerebellar lesion
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58
Q

Angular chelitis is a sign of ?

A

Iron deficiency

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59
Q

Differentials for a large spleen?

A

Haematological
Infective - bacterial endocarditis
Portal hypertension

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60
Q

DDx for Hepatomegaly?

SHIRT

A
  • Structural and Storage/Metabolic
  • Haeamtological
  • Infection and infiltrative
  • Rheumatological
  • Tumour/haemartomas/Trauma
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61
Q

Angular chelitis is a sign of ?

A

Iron deficiency

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62
Q

Causes of enlarged kidneys?

A 
Cystic
Hydronephrosis
Adrenal - Phaeocytoma
Renal vein thrombosis
Tumour
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63
Q

DDx for Hepatomegaly?

A
  • Structural and Storage/Metabolic
    (Fat, lipid, carbohydrates, protein, wilson’s, CF)
  • Haeamtological
    (Thal, sickle cell, ALL, Hodgkins)
  • Infection and infiltrative
    (CCF, obstructed IVC), ( Viral, bacterial, parasitic)
  • Rheumatological
    (SLE, Sarcoidosis)
  • Tumour/haemartomas/Trauma
    (HCC, hepatoblastoma, neuroblastoma, haemangioma, cyst)
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64
Q

What are four acquired causes for a floppy strong baby?

A

1) Infection (TORCH, meningitis, encephalitis)
2) Ischaemia
3) Traumatic
4) Endocrine - hypothyroidism, hypopituitarism

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65
Q

Causes of enlarged kidneys?

CHART

A 
Cystic
Hydronephrosis
Adrenal - Phaeocytoma
Renal vein thrombosis
Tumour
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66
Q

What are 5 inherited causes for a central - floppy strong baby?

A

1) Genetic - Prader-Willi syndrome, Down syndrome
2) Structural - e.g. lissencephalyNeuro-degenerative e.g. Tay-Sachs, MPS
3) Neurocutaneous e.g. Sturge-Weber syndrome
4) Metabolic disorder e.g. amino-acidopathies

67
Q

What are four acquired causes for a floppy strong baby?

A

1) Infection (TORCH, meningitis, encephalitis)
2) Ischaemia
3) Traumatic
4) Endocrine - hypothyroidism, hypopituitarism

68
Q

Five overarching differentials for macrocephaly?

A

1) Too much bone
- Achondroplasia, chronic haemolysis
2) Too much fluid
- Hydrocephalus: obstructive, or communicating (failure of CSF absorption)
3) Too much brain
- Generalised;
- Syndrome (NF1, TS, Sturge weber)
- Tumour or abscess?
4) Too much blood
- Subdurals
5) Familial

69
Q

What investigations do children with NF-1 need?

A

1) opthal assessment: Lisch nodules
2) Genetic testing
3) MRI orbits +/- brain
4) If Htn consider catecholamines for phaeochromomyctoma

70
Q

Features of NF-1?

CAFE SPO

A 
Cafe au lait
Axillary freckling
Fibromas
Eye - Lisch nodules
Skeletal - sphenoid dysplasia, 
P - pseudoarthrosis
Optic glimoa

+ First degree related with NF-1

71
Q

What are four skin/nail lesions of TB

A

Shagreen patch
Ash leaf patched
Angiofibromas
Ungal fibromas

72
Q

What investigations do you need for TB?

A

1) Genetic test
2) Bloods - FBC, UEC< LFT, Fasting lipis (everolimus)
3) MRI brain
4) MRI abdomen - every 1-3 years
5) ECHO - 1-3 yearly until cardiac rhabdomyomas regress
6) EEG; 1-2 monthly or if sudden change in behaviour/sleep
7) ECG for conduction defects

73
Q

Common side effects of Sirolimus and Everolimus?

A

Transmanitis, leucopenia, apthous ulcers

74
Q

What brain tumour is seen in TB?

A

Subependymal giant cell astrocytomas

75
Q

What are the four basic medical complications of SWS?

A

Hemiparesis + Epilepsy + DD + Glaucoma

76
Q

In detail what are the medical issues with SWS?

A

1) Seizures - focal often
2) Hemiparesis and heminopia
3) Glaucoma
4) intellectual impairment
5) Headache - migraine, hemiplegic migraine
6) Body asymmetry
7) Central endocrine complications

77
Q

What might a right lateral thoracotomy scar indicate?

A

Modified BT shunt, lobectomy, TOF repair

78
Q

What might a median sternotomy indicate?

A

Open heart surgery requiring a cardiopulmonary bypass

79
Q

What is a BT shunt?

A

Connection between the subclavian or cardiac artery to the pulmonary flow

80
Q

What is the Norwood procedure?

A

Right heart is connected to the Aorta (used for hypoplastic left heart).

After the right heart is connected to aorta a shunt is placed to provide pulmonary flow.

81
Q

What is Fontan procedure?

A

IVC connected to pulmonary vasculature

82
Q

What is the Glenn procedure?

A

SVC connected to pulmonary vasculature

83
Q

Which murmurs increase with Valsalva?

A

HOCM or mitral valve prolapse

84
Q

Differentials for a right upper sternal edge murmur?

A

Valvular or supravalvular aortic stenosis

BT shunt

85
Q

Difference in murmur between a muscular or perimembranous VSD?

A

Muscular VSD murmur - Ejection systolic

Membronous VSD murmur - Pansystolic

86
Q

Differentials for a left lower sternal edge murmur?

A

VSD, AVSD, MR, TR, HOCM

87
Q

6 facial features of down syndrome?

A 
Upslanting palpebral fissures
Epicanthic folds
Small nose/flat nasal bridge
large tongue
Brachycephaly or microcephaly
small ears
88
Q

Describe 3 facial features of Noonan syndrome?

A

Hypertelorism, Epicanthic folds, micrognathia

89
Q

Most common heart lesion with Turners Syndrome?

A

Aortic stenosis
Coarctation
Bicuspid aortic valve

90
Q

Most common heart lesion with Noonan syndrome?

A

Pulmonary stenosis

91
Q

Common cardiac complications of William syndrome?

Other medical complications?

A

Supravalvular aortic stenosis, PP stenosis

Hypothyroidism, renal artery stenosis

92
Q

Facial features of DiGeorge syndrome?

A

Hypertelorism, short philtrum, narrow palpebral fissues, broad high bridge of nose

93
Q

CKD + hearing impairment + visual impairment =

A

Alport syndrome

94
Q

What are three endocrine causes of hypertension?

A
  • Cushing syndrome
  • Hyperthyroidism or hyperparathyroidism
  • Adrenal causes -> hyperaldosteronism or CAH (11-b-hydroxylase) or Phaeochromocytoma
95
Q

What are three Renal causes of hypertension?

A

1) Nephritis - PSGN, IgA nephropathy, SLE, HSP, SBE, HUS
2) Congenital renal anomalies - PCKD, hydronephrosis
3) Reflux nephropathy, nephrotic syndrome

96
Q

What are three cardiac or vascular causes of hypertension?

A

1) Renal artery stenosis

2) Coarctation of the aorta, PDA, SV AS, AV fistula

97
Q

Causes of hypertension:

  • Drugs:
  • Syndrome:
  • Tumour:
  • Psychological:
A
  • Drugs: Steroids, stimulants
  • Syndrome: Turner syndrome
  • Tumour: Phaeo, neuroblastoma
  • Psychological: Stress, anxiety
98
Q

What “special” blood tests might you do to investigate hypertension? (3)

A

Bloods

1) Cortisol (Cushing’s)
2) PTH (hyperparathyroidism)
3) 17-OH progesterone (CAH)

99
Q

Difference between Mobitz I and Mobitz II? (both second degree heart block)

A

Mobitz 1 -lengthening PR

Mobitz 2 - Dropped beats

100
Q

What are ddx for continuous murmur?

A

Patent ductus arteriosus – with bounding pulses
Arteriovenous fistula
BT Shunt – check for scars

101
Q

What are some complications of cyanosis?

A

1) Poor growth, nutrition and delayed puberty
2) Acne
3) Reduced exercise tolerance
4) Renal impairment

102
Q

Patient with stridor.

Ex-prem –
Capillary haemangioma –
Posture hyperextended –
Paucity of movement -

A

Ex-prem – subglottic stenosis
Capillary haemangioma – subglottic haemangioma
Posture hyperextended – cerebral palsy/pseudobulbar palsy
Paucity of movement - neurological cause

103
Q

Complications of splenomegaly?

A

1) Hypersplenism - thrombocytopenia
2) Functional asplenism - infection
3) Splenic infarction
4) Early satiety - growth charts

104
Q

Causes of hepatosplenomgealy?

A

CHIMP

Connective tissue (SLE, SJI)
Haematological (Thal, SCD, Leukaemia)
Infective (EBV, CMV, malaria)
Metabolic (Lysosomal)
Portal hypertension
105
Q

Causes of portal hypertension?

A

1) Prehepatic - portal vein thrombosis
2) Hepatic - anything that causes cirrhosis, or cyst or neoplasma, or VO
3) Post hepatic - obstructive, RHF, Budd chiari

106
Q

Milk maid grip indicates _____

A

Chorea

107
Q

Chorea increases with _____ and ______ and goes away with ______

A

Chorea increases with excitement and stress and goes away with sleep

108
Q

4 signs of chorea?

A

Milkmaids signs
Tongue in mouth sign
Spooning sign
Pronator signs (arms turn outwards when above head)

109
Q

Name 6 conditions that can have chorea?

A 
Cerebral palsy
Sydenhams chorea
Wilson's disease
SLE
Ataxia Telengectasia
Huntington's chorea
110
Q

Slow writhing movements of the hand are called _____ and are associated with which part of the brain?

A

Athetosis - associated with basal ganglia

111
Q

Intentional tremor are associated with _____ disorder

A

Cerebellar disorder

112
Q

What should the arm span - height be?

A

At birth = -3cm
At 8-12yr = 0cm
At 14+ years = +1 cm for girls, +4cm for boys

113
Q

Hemihypertrophy + short stature =

A

Russell-Silver syndrome

114
Q

Low hairline can be seen with … (3)

A

Turner syndrom, Klippel-Fiel syndrome, Noonan syndrome

115
Q

Neck webbing is seen with … (2)

A

Noonan and Turner Syndrome

116
Q

Hypertelorism is seen with ___ (2)

A

Noonan and William syndrome

117
Q

What are the indications for GH?

A

1) Growth velocity reduced <25th centile?
2) chronic renal failure/Turner’s/growth hormone deficiency
3) Need to have fixed reversible causes
4) Need bone age to demonstrate not yet fused

118
Q

GH is contraindicated in ____ (4)

A 
Fanconi's
Down's
Bloom
malignancy
type I DM (GH is insulin antagonist)
119
Q

Differentials for Pes Cavus ______

A

Secondary to spinal cord compression from neurofibroma
Untreated kyphoscoliosis
Spinal cord injury

120
Q

List 4 causes of hypertension with NF-1?

A

Renal artery stenosis,
phaeochromocytoma,
coarctation of the aorta
Essential hypertension

121
Q

When do neurofibromas typically appear?

A

At onset of puberty

122
Q

5 differentials for tall stature?

A 
Marfans
Homocystinuria
MEN-2
Kleinfelters
Kallmans
123
Q

What are the three hypermobility tests you should do when testing for Marfans?

A

Thumb (steinberg sign) - extension of the whole distal phalanx of thumb beyond the ulnar border of palm
Flex thumb to the radius
Wrist (Walker-Murdoch sign) - overlapping of pinky when encircling the wrist

124
Q

Tall + small head =

A

Beckwith Weideman

125
Q

Bluish sclerae is seen with ____

A

Marfan Syndrome

126
Q

Tall stature:

Proportionate and decreased IQ =

A 
Beckwith Weideman syndrome (smaller head)
Sotos syndrome (big head)
127
Q

Tall stature:

Disproportionate and normal IQ =

A

Marfans syndrome

Kallman syndrome

128
Q

Tall stature

Disproportionate and decreased IQ =

A

Kleinfelters syndrome

Homocystinuria

129
Q

Tall stature

Proportionate and normal IQ =

A

Familail

Obesity

130
Q

4 causes of secondary tall stature =

A

Precocious puberty - central or peripheral causes
Growth hormone excess - pituitary gigantism
Thyrotoxicosis
NF-1

131
Q

Apart from hypogonadotrophic hypogonadism list 3 other clinical features of Kallman syndrome?

A

Anosmia, Cleft palate, deafness

and colour blindness!

132
Q

What investigations help diagnose Homocystinuria?

A

Urine Methione levels

133
Q

What invetsigations might be helpful in a floppy infant?

A

Creatinine kinase
EMG
Nerve conduction studies
Muscle biopsy

134
Q

Name 5 complications of extrameduallary haematopoeisis?

A

1) Bone changes to the face - maxillary overgrowth, protrusion of teeth, separation of orbits, frontal bossing, chronic sinusitis, impaired hearing
2) Spinal cord compression
3) Lymphadenopathy
4) Hepatosplenomegaly
5) Gallstones

135
Q

Name 3 Endocrine complications of iron overload?

A

1) Short stature
2) Delayed puberty - hypogonadism, oestrogen/testosterone def
3) Hypothyroidism, hypoparathyroidism, DM

136
Q

Name 2 cardiac complications of Fe Overload?

A

Cardiomyopathy, pericarditis, arrhythmias

Congestive cardiac failure (90% 18-month mortality)

137
Q

Which organisms are susceptible to infection in Fe overload?

A

Yersinia

138
Q

Name 4 complications of Desferrioxamine?

A

1) Local irritation
2) Hypotension
3) vision - cataracts, night blindedness, reduced visual fields, decreased VA
4) SNHL
5) Bone abnormalitis - rickets

139
Q

Name three complications of oral iron chelator - deferiprone -

A

Neutropenia/agranulocytosis – idiosyncratic, but reversible

Arthropathy – usually large joints

Zinc deficiency
Gut symptoms

140
Q

In a gait exam - walking on toes tests for ______ (__)

A

Plantar flexion (S1)

141
Q

In a gait exam - walking on heels tests for _______ (__)

A

Dorsiflexion (L5)

142
Q

What three manoevres should be performed on the gait exam?

A

1) Bend forward and touch toes (look for scoliosis)
2) Squatting and then rising
3) Lying on the floor then rising

143
Q

Which myotome?

Hip flexion?

A

L1, L2, L3

144
Q

Which myotome?

Hip extension?

A

L5, S1, S2

145
Q

Which myotome?

Hip abduction

A

L4, L5, S1

146
Q

Which myotome?

Hip adduction

A

L2, L3, L4

147
Q

Which myotome

Knee flexion

A

L5, S1

148
Q

Which myotome

Knee extension

A

L3, L4

149
Q

Which myotome

Ankle plantar plexion

A

S1

150
Q

Which myotome:

Ankle dorsiflexion?

A

L4, L5

151
Q

Knee reflex tests?

A

L3, L4

152
Q

Ankle reflex tests?

A

S1, S2

153
Q

What are the neurological features of hypothyroidism?

A

Hyporeflexia, Proximal myopathy, peripheral neuropathy, cerebellar ataxia

154
Q

What eye signs are seen with hyperthyroidism?

A

Exopthalmos/Proptosis`
Lid lag
Lid retraction
External opthalmoplegia

155
Q

5 differentials for cause of Goitre?

A 
Autoimmune thyroiditis
Graves disease
Hyperplasia
Diffuse nodular non-toxic goitre
Subacute thyroiditis
Simple goite - normal bloods, sometimes seen in prepubertal girls

Tumour

156
Q

DDx for Global developmental delay?

A

Structural - Cerebral malformations, hydrocephalus
Genetics - syndromic causes
Infection - TORCH infections
Endocrine - Hypothyroidism
Toxins - alcohol, VPA, phenytoin
Neurology - Encephalopathy or seizure disorder
Metabolic - (more degenerative), Gangliosidoses, Neimann pick, White matter, leukodystrophy

157
Q

3 differentials for isolated speech delay?

A

Hearing impairment
Infantile autism
Bilateral hippocampal sclerosis

158
Q

What are some differentials for isolated motor delay? (5)

A 
Ataxia
Hemiplegia
Paraplegia
Hypotonia
Neuromuscular disorder
159
Q

Please discuss the causes of normocytic anaemia:

Low retic count (2):

High retic count (3):

A

Diamond Blackfan
Transient erythroblastosis of childhood

Bleeding
Haemolysis
Infiltrative

160
Q

Polycadtyly + obesity =

A

Bardet Biedl

161
Q

List 5 syndromes associated with obesity?

A 
Prader Willi Syndrome
Laurence Moond Biedl syndrome
Down sydnrome
Turner syndrome
Alstrom syndrome
162
Q

4 main causes of obesity?

A

Genetic
Endocrine
Nutritional
Drugs

163
Q

Differentials for poor IQ may be:

GET DA SHIP

A

Genetic
Expansions -> Fragile X
Trisomies

Deletions - Williams syndrome, CATCH 22, TS
Angelman (and Prader Willi)

Structural - NT defects, agenesis of corpus collosum
Hypothyroidism
Inborn errors of metabolism
Post and perinatal - Infection, Ischaemia (HIE) and injury

BPT Clinical exam (3 decks)

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