Short case Flashcards
1
Q
CXR with egg on a string is associated with ______
A
TGA
2
Q
Truncus arteriosus is associated with _____ pulses
A
Bounding pulses
3
Q
What kind of murmur is associated with pulmonary atresia?
A
Continuous murmur
4
Q
Hypertrophic cardiomyopathy can be associated with which conditions?
A
Errors of metabolism (Pompe), Noonan’s, Neuromuscular disorder (Fredreichs ataxia)
5
Q
What medications would you avoid in WPW?
A
Digoxin or CCBs
6
Q
What is the UL:LL ratio at birth?
A
1.7
7
Q
What is the UL:LL ratio at age 3?
A
1.3
8
Q
When does the UL:LL ratio become close to 1?
A
At about age 8
9
Q
A higher US:LS ratio (short limbs) might indicate?
A
Skeletal dysplasia, hypothyroidism
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)
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)
12
Q
What does Rhizomelic mean and what can it be associated with?
A
Proximal limb shortening
Associated with achondroplasia, hypochondroplasia
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)
14
Q
What is clinodactyly?
A
Curved pinky finger
15
Q
A shortened fourth metacarpal may be indicative of?
A
Pseudohypoparathyroidism, Turner’s Foetal ETOH
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
17
Q
What are some endocrine causes for short stature?
A
Hypopituitarism, GH deficiency, Cushings, Hypothyrodism, IDDM, Pseudohypoparathyroidism
18
Q
7 common syndromes for short stature?
A
PWS Bardet Biedel Russell Silver Fetal alcohol syndrome Turners syndrome McCune Albright syndrome Alstrom syndrome
19
Q
Hyperconvex nails can be seen in which syndrome?
A
Turners
20
Q
Koilynchia is seen with?
A
Fe deficiency
21
Q
Leukonychia is assoc with?
A
Hypoalbuminism and CLD
22
Q
________ head shape is seen with Russel silver syndrome?
A
Traingle
23
Q
Frontal bossing is seen with?
A
Rickets and thalassemia
24
Q
A large fontanelle is seen with? (3)
A
Hypothyroidism, russell silver and rickets
25
Dry hair is seen with?
Hypothyroidism
26
Hypertelorism is seen with? (2)
Noonan and William syndrome
27
Epicanthic folds seen in? (4)
Williams, Noonan, Turners and Down syndrome
28
Ptosis is seen with which syndrome?
Noonan and pseudohypoparathyroidism
29
Nystagmus is seen with which short stature syndrome?
Septo-optic dysplasia
30
Upward gaze palsy is associated with which tumour?
Pineal tumour
31
Midface hypoplasia is seen with?
FAS
32
What investigations/Ax for a child with primary amenorrhea?
- 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
33
How do you investigate for delayed puberty?
- 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,
34
What is delayed puberty defined as?
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
35
What is precocious puberty defined as?
Onset before 8 years in girls, and before 9 years in boys
36
Cafe aut lait spots + precocious puberty =. ?DDX
NF1, Mc-A, Russell-Silver
37
Definition of short stature?
Height is >2 SD below mean
38
What investigations should you consider in short stature?
```
FBC, UEC, LFT, CMP, CRP
TFTS, Coeliac serology,
Karyotype
Bone age
Consider MRI B
```
39
When do you consider supplementing with GH?
If GH deficiency
| OR if short stature is interfering with psychosocial wellbeing
40
Side effects of GH?
- Most common: Headaches
- Slightly higher risk of IIH, increased intraocular pressure, SCFE, worsening of existing scoliosis
- PWS: risk of OSA
41
Indication for GH in Turners syndrome?
GH therapy as soon as height falls below 5th centile (on Turner specific charts)
42
Which myotome is responsible for shoulder abduction?
C5
43
Which myotome is responsible for shoulder adduction?
C5-C8
44
Which myotome is responsible for elbow flexion?
C5, C6
45
Which myotome is responsible for elbow extension?
C7, C8
46
Which myotome is responsible for is responsible for wrist flexion?
C6, C7
47
Which myotome is responsible for wrist extension?
C6, C7
48
Which myotome is responsible for hand movements?
C8, T1
49
Biceps reflex correlates to?
Musculocutaneous branch - C5
50
The Brachioradialus reflex correlates to ?
C6 - radial nerve
51
The triceps reflex correlates to ?
Radial nerve - C7 C8
52
How do you test coordination with upper limbs? (3)
Cerebellar reboud
FInger nose test
Dysdiadochinesia
53
What are the four functional movements to test for?
Buttons/laces?
Writing?
Threading beads?
Using comb
54
List 5 upper motor neuron signs?
```
Hypertonia
Clonus
Hyperreflexia
Wasting
Reduced power
```
55
List 5 lower motor neuron signs
```
Hypotonia
Hyporeflexia
Fasciculations
Wasting
Reduced power
```
56
4 differentials for upper motor neuron lesion?
- Hemiplegia
- Cerebral palsy
- Spinal cord lesions
- Bilateral stroke/tumoour
57
4 differentials for LMN lesions?
- SMA
- Peripheral neuropathy
- Muscle - myopathy, dermatomyositis
- Cerebellar lesion
58
Angular chelitis is a sign of ?
Iron deficiency
59
Differentials for a large spleen?
Haematological
Infective - bacterial endocarditis
Portal hypertension
60
DDx for Hepatomegaly?
| SHIRT
- Structural and Storage/Metabolic
- Haeamtological
- Infection and infiltrative
- Rheumatological
- Tumour/haemartomas/Trauma
61
Angular chelitis is a sign of ?
Iron deficiency
62
Causes of enlarged kidneys?
```
Cystic
Hydronephrosis
Adrenal - Phaeocytoma
Renal vein thrombosis
Tumour
```
63
DDx for Hepatomegaly?
- 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)
64
What are four acquired causes for a floppy strong baby?
1) Infection (TORCH, meningitis, encephalitis)
2) Ischaemia
3) Traumatic
4) Endocrine - hypothyroidism, hypopituitarism
65
Causes of enlarged kidneys?
| CHART
```
Cystic
Hydronephrosis
Adrenal - Phaeocytoma
Renal vein thrombosis
Tumour
```
66
What are 5 inherited causes for a central - floppy strong baby?
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
What are four acquired causes for a floppy strong baby?
1) Infection (TORCH, meningitis, encephalitis)
2) Ischaemia
3) Traumatic
4) Endocrine - hypothyroidism, hypopituitarism
68
Five overarching differentials for macrocephaly?
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
What investigations do children with NF-1 need?
1) opthal assessment: Lisch nodules
2) Genetic testing
3) MRI orbits +/- brain
4) If Htn consider catecholamines for phaeochromomyctoma
70
Features of NF-1?
CAFE SPO
```
Cafe au lait
Axillary freckling
Fibromas
Eye - Lisch nodules
Skeletal - sphenoid dysplasia,
P - pseudoarthrosis
Optic glimoa
```
+ First degree related with NF-1
71
What are four skin/nail lesions of TB
Shagreen patch
Ash leaf patched
Angiofibromas
Ungal fibromas
72
What investigations do you need for TB?
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
Common side effects of Sirolimus and Everolimus?
Transmanitis, leucopenia, apthous ulcers
74
What brain tumour is seen in TB?
Subependymal giant cell astrocytomas
75
What are the four basic medical complications of SWS?
Hemiparesis + Epilepsy + DD + Glaucoma
76
In detail what are the medical issues with SWS?
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
What might a right lateral thoracotomy scar indicate?
Modified BT shunt, lobectomy, TOF repair
78
What might a median sternotomy indicate?
Open heart surgery requiring a cardiopulmonary bypass
79
What is a BT shunt?
Connection between the subclavian or cardiac artery to the pulmonary flow
80
What is the Norwood procedure?
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
What is Fontan procedure?
IVC connected to pulmonary vasculature
82
What is the Glenn procedure?
SVC connected to pulmonary vasculature
83
Which murmurs increase with Valsalva?
HOCM or mitral valve prolapse
84
Differentials for a right upper sternal edge murmur?
Valvular or supravalvular aortic stenosis
| BT shunt
85
Difference in murmur between a muscular or perimembranous VSD?
Muscular VSD murmur - Ejection systolic
| Membronous VSD murmur - Pansystolic
86
Differentials for a left lower sternal edge murmur?
VSD, AVSD, MR, TR, HOCM
87
6 facial features of down syndrome?
```
Upslanting palpebral fissures
Epicanthic folds
Small nose/flat nasal bridge
large tongue
Brachycephaly or microcephaly
small ears
```
88
Describe 3 facial features of Noonan syndrome?
Hypertelorism, Epicanthic folds, micrognathia
89
Most common heart lesion with Turners Syndrome?
Aortic stenosis
Coarctation
Bicuspid aortic valve
90
Most common heart lesion with Noonan syndrome?
Pulmonary stenosis
91
Common cardiac complications of William syndrome?
Other medical complications?
Supravalvular aortic stenosis, PP stenosis
Hypothyroidism, renal artery stenosis
92
Facial features of DiGeorge syndrome?
Hypertelorism, short philtrum, narrow palpebral fissues, broad high bridge of nose
93
CKD + hearing impairment + visual impairment =
Alport syndrome
94
What are three endocrine causes of hypertension?
- Cushing syndrome
- Hyperthyroidism or hyperparathyroidism
- Adrenal causes -> hyperaldosteronism or CAH (11-b-hydroxylase) or Phaeochromocytoma
95
What are three Renal causes of hypertension?
1) Nephritis - PSGN, IgA nephropathy, SLE, HSP, SBE, HUS
2) Congenital renal anomalies - PCKD, hydronephrosis
3) Reflux nephropathy, nephrotic syndrome
96
What are three cardiac or vascular causes of hypertension?
1) Renal artery stenosis
| 2) Coarctation of the aorta, PDA, SV AS, AV fistula
97
Causes of hypertension:
- Drugs:
- Syndrome:
- Tumour:
- Psychological:
- Drugs: Steroids, stimulants
- Syndrome: Turner syndrome
- Tumour: Phaeo, neuroblastoma
- Psychological: Stress, anxiety
98
What "special" blood tests might you do to investigate hypertension? (3)
Bloods
1) Cortisol (Cushing’s)
2) PTH (hyperparathyroidism)
3) 17-OH progesterone (CAH)
99
Difference between Mobitz I and Mobitz II? (both second degree heart block)
Mobitz 1 -lengthening PR
| Mobitz 2 - Dropped beats
100
What are ddx for continuous murmur?
Patent ductus arteriosus – with bounding pulses
Arteriovenous fistula
BT Shunt – check for scars
101
What are some complications of cyanosis?
1) Poor growth, nutrition and delayed puberty
2) Acne
3) Reduced exercise tolerance
4) Renal impairment
102
Patient with stridor.
Ex-prem –
Capillary haemangioma –
Posture hyperextended –
Paucity of movement -
Ex-prem – subglottic stenosis
Capillary haemangioma – subglottic haemangioma
Posture hyperextended – cerebral palsy/pseudobulbar palsy
Paucity of movement - neurological cause
103
Complications of splenomegaly?
1) Hypersplenism - thrombocytopenia
2) Functional asplenism - infection
3) Splenic infarction
4) Early satiety - growth charts
104
Causes of hepatosplenomgealy?
CHIMP
```
Connective tissue (SLE, SJI)
Haematological (Thal, SCD, Leukaemia)
Infective (EBV, CMV, malaria)
Metabolic (Lysosomal)
Portal hypertension
```
105
Causes of portal hypertension?
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
Milk maid grip indicates _____
Chorea
107
Chorea increases with _____ and ______ and goes away with ______
Chorea increases with excitement and stress and goes away with sleep
108
4 signs of chorea?
Milkmaids signs
Tongue in mouth sign
Spooning sign
Pronator signs (arms turn outwards when above head)
109
Name 6 conditions that can have chorea?
```
Cerebral palsy
Sydenhams chorea
Wilson's disease
SLE
Ataxia Telengectasia
Huntington's chorea
```
110
Slow writhing movements of the hand are called _____ and are associated with which part of the brain?
Athetosis - associated with basal ganglia
111
Intentional tremor are associated with _____ disorder
Cerebellar disorder
112
What should the arm span - height be?
At birth = -3cm
At 8-12yr = 0cm
At 14+ years = +1 cm for girls, +4cm for boys
113
Hemihypertrophy + short stature =
Russell-Silver syndrome
114
Low hairline can be seen with ... (3)
Turner syndrom, Klippel-Fiel syndrome, Noonan syndrome
115
Neck webbing is seen with ... (2)
Noonan and Turner Syndrome
116
Hypertelorism is seen with ___ (2)
Noonan and William syndrome
117
What are the indications for GH?
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
GH is contraindicated in ____ (4)
```
Fanconi's
Down's
Bloom
malignancy
type I DM (GH is insulin antagonist)
```
119
Differentials for Pes Cavus ______
Secondary to spinal cord compression from neurofibroma
Untreated kyphoscoliosis
Spinal cord injury
120
List 4 causes of hypertension with NF-1?
Renal artery stenosis,
phaeochromocytoma,
coarctation of the aorta
Essential hypertension
121
When do neurofibromas typically appear?
At onset of puberty
122
5 differentials for tall stature?
```
Marfans
Homocystinuria
MEN-2
Kleinfelters
Kallmans
```
123
What are the three hypermobility tests you should do when testing for Marfans?
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
Tall + small head =
Beckwith Weideman
125
Bluish sclerae is seen with ____
Marfan Syndrome
126
Tall stature:
Proportionate and decreased IQ =
```
Beckwith Weideman syndrome (smaller head)
Sotos syndrome (big head)
```
127
Tall stature:
Disproportionate and normal IQ =
Marfans syndrome
| Kallman syndrome
128
Tall stature
Disproportionate and decreased IQ =
Kleinfelters syndrome
| Homocystinuria
129
Tall stature
Proportionate and normal IQ =
Familail
| Obesity
130
4 causes of secondary tall stature =
Precocious puberty - central or peripheral causes
Growth hormone excess - pituitary gigantism
Thyrotoxicosis
NF-1
131
Apart from hypogonadotrophic hypogonadism list 3 other clinical features of Kallman syndrome?
Anosmia, Cleft palate, deafness
and colour blindness!
132
What investigations help diagnose Homocystinuria?
Urine Methione levels
133
What invetsigations might be helpful in a floppy infant?
Creatinine kinase
EMG
Nerve conduction studies
Muscle biopsy
134
Name 5 complications of extrameduallary haematopoeisis?
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
Name 3 Endocrine complications of iron overload?
1) Short stature
2) Delayed puberty - hypogonadism, oestrogen/testosterone def
3) Hypothyroidism, hypoparathyroidism, DM
136
Name 2 cardiac complications of Fe Overload?
Cardiomyopathy, pericarditis, arrhythmias
Congestive cardiac failure (90% 18-month mortality)
137
Which organisms are susceptible to infection in Fe overload?
Yersinia
138
Name 4 complications of Desferrioxamine?
1) Local irritation
2) Hypotension
3) vision - cataracts, night blindedness, reduced visual fields, decreased VA
4) SNHL
5) Bone abnormalitis - rickets
139
Name three complications of oral iron chelator - deferiprone -
Neutropenia/agranulocytosis – idiosyncratic, but reversible
Arthropathy – usually large joints
Zinc deficiency
Gut symptoms
140
In a gait exam - walking on toes tests for ______ (__)
Plantar flexion (S1)
141
In a gait exam - walking on heels tests for _______ (__)
Dorsiflexion (L5)
142
What three manoevres should be performed on the gait exam?
1) Bend forward and touch toes (look for scoliosis)
2) Squatting and then rising
3) Lying on the floor then rising
143
Which myotome?
Hip flexion?
L1, L2, L3
144
Which myotome?
Hip extension?
L5, S1, S2
145
Which myotome?
Hip abduction
L4, L5, S1
146
Which myotome?
Hip adduction
L2, L3, L4
147
Which myotome
Knee flexion
L5, S1
148
Which myotome
Knee extension
L3, L4
149
Which myotome
Ankle plantar plexion
S1
150
Which myotome:
Ankle dorsiflexion?
L4, L5
151
Knee reflex tests?
L3, L4
152
Ankle reflex tests?
S1, S2
153
What are the neurological features of hypothyroidism?
Hyporeflexia, Proximal myopathy, peripheral neuropathy, cerebellar ataxia
154
What eye signs are seen with hyperthyroidism?
Exopthalmos/Proptosis`
Lid lag
Lid retraction
External opthalmoplegia
155
5 differentials for cause of Goitre?
```
Autoimmune thyroiditis
Graves disease
Hyperplasia
Diffuse nodular non-toxic goitre
Subacute thyroiditis
Simple goite - normal bloods, sometimes seen in prepubertal girls
```
Tumour
156
DDx for Global developmental delay?
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
3 differentials for isolated speech delay?
Hearing impairment
Infantile autism
Bilateral hippocampal sclerosis
158
What are some differentials for isolated motor delay? (5)
```
Ataxia
Hemiplegia
Paraplegia
Hypotonia
Neuromuscular disorder
```
159
Please discuss the causes of normocytic anaemia:
Low retic count (2):
High retic count (3):
Diamond Blackfan
Transient erythroblastosis of childhood
Bleeding
Haemolysis
Infiltrative
160
Polycadtyly + obesity =
Bardet Biedl
161
List 5 syndromes associated with obesity?
```
Prader Willi Syndrome
Laurence Moond Biedl syndrome
Down sydnrome
Turner syndrome
Alstrom syndrome
```
162
4 main causes of obesity?
Genetic
Endocrine
Nutritional
Drugs
163
Differentials for poor IQ may be:
GET DA SHIP
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
