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Examination technique

Hypomelanosis of Ito

Hypopigmented macules
In whorl like pattern on the trunk
And linear streak on the limbs
Along the blascko lines
Distributed over the left upper limbs and chest,
Abdomen and back
As well as the lateral right lower limb
No nails, hair, mucosal or teeth involvement.
(looking for dystrophic nails and alopecia)
The head looks big with wide fontanels
I would like to measure and plot his OFC
There is also left hemihypertrophy
I would like to measure objectively his limb length and muscle circumference
I would like to do a formal developmental assessment
I would also like to check his eyes for retinopathy
And examine his cardiac and abdominal system
(to look for associated cardiac abnormalities and organomegaly specifically for wilms)

Impression:
Pigmentary mosaicism (hypomelanosis of Ito)
Unlikely incontinentia pigmenti as he is a baby boy and the condition is lethal in male

Blascko lines is a embryological origin of the ectoderm from the neural crest

Abdominal examination

Dysmorphic
Jaundice, pale (to examine under natural light)
Well grown/ thriving (plot growth chart)
Nutrition
- nail, skin, hair
- iron def : koilonychias, glossitis, chelitis
- Vit K def: bruising
- Vit D def: rickets with widened wrist, rickety rosary ribs
Peripheral stigmata of chronic liver disease
Per abdomen fullness, dilated vein, scar, pigmentation
Hepatomegaly
Measuring ____ from subcostal midclavicular line
With the upper border at 5th intercostals space
It is firm in consistency, smooth surface with a regular margin
Associated portal hypertension
With splenomegaly
Ascites
The hernia orifices are intact.
Complete examination by examine genitalia and do per rectal

Pale, jaundice Northern European Splenomegaly Hereditary


spherocytosis
Pale, jaundice Asian/ Indian/ Splenomegaly Thalassaemia
Meditarenean +/- Hepatomegaly
Pale, jaundice Afrocarribean +/- Splenomegaly Sickle cell

Small Small Normal size


Doll-like facies Coarse facies
No stigmata of chronic liver No stigmata of chronic liver No stigmata of chronic liver
disease disease disease
No evidence of portal No evidence of portal
hypertension hypertension
Hepatomegaly Hepatosplenomegaly Hepatomegaly
Glikogen storage disease Other storage diseases Hepatoblastoma
Gaucher Hepatocellular carcinoma
If splenomegaly present Niemann Pick
 glikogen disease type IV Mucopolysaccaridoses

Proceed to examine
Heart (cardiomyopathy)
Developmental/ intellectual

Postoperative liver cirrhosis

Looks tall but wasted


Like to plot her on the growth chart
And assess her pubertal status
She had a tinge of jaundice
I would like to confirm this under natural light
She is clubbed
But there is no palmar erythema/ spider naevi/ bruises on the the body
Per abdomen there is a roof top well healed surgical scar
The liver edge 1 cm palpable
There is a splenomegaly of 3cm on the longitudinal axis
But no associated ascites or pedal oedema

Impression of post-operative liver cirrhosis


Possibly post-Kasai (porto-enterostomy)
Or excision of choledochal cyst (caroli’s disease)
Unlikely liver transplant as the surgical scar is usually Mercedes Benz type
Fatty Liver from steroid

Looks small, I will like to plot him on an appropriate growth chart


He appears cushingnoid and hirsute
He is not jaundice or pale
On peripheral examination, there is no stigmata of chronic liver disease
There is also no bruises or oedema seen
Per abdomen, the abdomen appears full over the upper quadrant
The umbilicus is inverted and the hernia orifices is intact
There is no surgical scar or dilated veins seen
The abdomen is soft and non tender on palpation
There is a hepatomegaly measuring 4cm below the subcostal
It is firm in consistency with a smooth surface and regular margin
The upper border of the liver is at the 5th intercostals space
There is no associated splenomegaly or ascites
The kidneys are not ballotable
The bowel sounds are normal and there is no bruit over the liver
I will like to complete my examination by examining the genitalia
And do a urine dipstick

Impression:
Cushingnoid with hepatomegaly with no evidence of chronic liver disease or portal
hypertension most probably due to fatty liver from steroid toxicity

Acute leukaemia

Well grown Cambodian boy


Looks ill
Pale but not jaundice
There are multiple bruises over his limbs
But there is no peripheral stigmata of chronic liver disease
There are shotty cervical lympadenopathy
But no lympadenopathy elsewhere
Per abdomen, the abdomen is distended over the upper quadrant
The umbilicus is inverted and hernia orifices are intact
There is no surgical scar or dilated veins seen
The abdomen is soft and non tender on palpation
There is moderate hepatosplenomegaly
With the liver palpable 5 cm below the subcostal
It is firm in consistency with a smooth surface and a regular margin
The upper border is at 5th intercostals space
The spleen is palpable 4 cm in its longitudinal axis
It is also firm in consistency with a smooth surface and regular margin
There is no associate ascites

Impression:
pallor with multiple bruises and hepatosplenomegaly would make acute leukaemia a
strong possibility

Cardiovascular examination

Cyanotic/ acyanotic
Lesion
- septal
- valvular
Site
- supravalvular (radiate to carotid/ back)
- valvular (click)
- subvalvular
Severity
- displaced AB (cardiomegaly)
- MDM
- Loud P2
- Palpable liver
- Clinical signs of failure
Aetiology
- isolated
- associated with congenital abnormalies

Lovely girl
Appears developmentally delayed
With features of Down’s syndrome
Appears thriving
Not in cardiorespiratory distress
Pink on air
Not clubbed
NO peripheral stigmata of infective endocarditis
Pulses are normal
With good volume, regular rhythm and a heart rate of ___
Non collapsible
No radio-radial or radio-femoral delay
No chest deformity
Hyperdynamic praecordium
Apex beat is not displaced
No parasternal heave or palpable thrill or heart sound
On ausculatation the first and second heart sound is heard
With a systolic murmur grade ___
Loudest over ____
Radiating towards _____
accentuated by _____
The lung field is clear
No associated hepatomegaly
Or peripheral oedema

Congenital rubella

Hearing aid
Pulmonary stenosis
- click
- radiation
Severity
- parasternal heave
- palpable liver

RESPIRATORY

Well grown but looks thin


I will like to plot him on an appropriate growth chart
He is slightly pale but not cyanosed
He is not clubbed
He is comfortable and not in respiratory distress
His respiratory rate is 24 breaths per minute
On examination of the chest
He has thoracic kyphoscoliosis
With prominent left chest wall and flattened right chest wall
There is no obvious scar
His trachea is deviated to the left
And his apex beat is displaced
There is reduced chest expansion on the right
The percussion is resonant and equal thoughout
On auscultation, there is reduced air entry on the right
But the breath sound is vesicular throughout
With no adventitious sound
And normal vocal resonance
There is cervical lympadenopathy

Impression:
Thoracic kyphoscoliosis with restrictive lung function
I would like to request for a lung function test (spirometry) to assess the function

Macrocephaly
Macrocephaly
With ventriculo-peritoneal shunt in-situ
Dilated veins over scalp
With open fontanelles
No sun-setting eyes
I would like to measure his OFC and plot it on an appropriate chart
No stigmata of prematurity
Such as old venepuncture marks/ scaphocephaly/ hyperinflated chest/ chest wall scar
His spine is normal
He is moving all his limbs
He is fixing and following
Making noises but no discrete words
He looks upset
I would like to do a full neurodevelopmental assessment

Craniosynostosis

Looks dysmorphic
With proptosis and midfacial hypoplasia with beak like nose
The anterior fontanelle is still open
But there is ridging of the sutures
There are surgical scars over the scalp
With a VP shunt in-situ
Which is functioning well
I would like to measure his OFC and plot in on an appropriate chart
He is able to fix
But has limited lateral tracking
I would like to do a fundoscopy to look for any optic atrophy
He is actively moving all his limbs equally
His spine is normal
He appears delayed
I would like to do a full neurodevelopmental assessment

Dyskinesia and spasticity

Hypotonic posturing
With frog like leg posture
There is paucity of movement
With occasional choreoathetoid movement of the hands
She is not fixing or following my face
Not turning to voices
Drooling of saliva
With gastrostomy tube in-situ
Surrounding area looks clean
Her ankle is tight
With increase in tone
I am unable to elicit her ankle reflexes probably due to the tight Achilles tendon
There is occasional movement on the horizontal plane
But not against gravity

Impression is that she has dyskinesia and spasticity of indeterminate cause


In view of her developmental regression
Need to exclude IEM
Need to do IEM work up with MRI brain

Hemiplegia

Well grown girl, generally looks well


On walking she has a left hemiplegic gait
With circumduction of her lower limb and flexion of her upper limb
Which is exaggerated on running and walking with eversion of her feet
She is also noted to have facial asymmetry with loss of nasolabial fold on the left
On examination of her lower limb
There is good muscle bulk and no obvious scar seen
My findings in the lower limb is consistent with an acute UMN lesion of the left lower
limb as evidenced by
Hypotonia, clonus, upgoing plantar and increased reflexes in the knee and ankle jerk
The power is generally reduced on the left
With the extensor stronger than the flexor
The sensation is intact
I did not proceed with coordination as that would be hampered by the weakness
I would like to proceed to examine the upper limb and cranial nerves
To confirm the left hemiplegia with left UMN facial nerve palsy
And to look for any associated homonymous hemianopia
The likely site of the lesion is the right internal capsule
As the involvement is mainly motor
I would like to look for possible etiology
Specifically examining the cardiovascular system
For any arrhythmia and murmur for possible source of emboli
Other possible causes include
Trauma, infection, vasculitis, bleed

Duchenne muscular dystrophy

Well grown and well looking boy


There is no obvious dysmorphism or facial rash
He is brought in by his father on a wheelchair
He has difficulty walking
He is only able to walk a few paces with support
He has a high stepping gait
On standing, there is marked lumbar lordosis
But no scoliosis noted
He is unable to get up from squatting position
Despite trying to climb over himself
On examination of his lower limb
There is wasting of his quadriceps muscle
With hypertrophy of his calves muscle
There is a muscle biopsy scar seen on his thigh
He has a tight Achilles tendon bilaterally
With limited ankle dorsiflexion
The knee reflexes are absent but the ankle reflexes are present
He has weakness over both lower limbs
Distributed mainly proximally
With the hip flexion/extension being 2/5
Knee flexion/ extension 3/5
And ankle dorsiflexion/ plantarflexion 4/5
I am unable to test for his sensation and coordination
As he has problem following my instruction
I suspect that he might have some learning difficulties
I would like to examine the upper limb to look for associated proximal myopathy
I would also like to examine his cardiovascular system to look for cardiomyopathy
My impression is that he has Duchenne muscular dystrophy
I would like to confirm this
By doing requesting for a CK and a muscle biopsy
It would also be important to screen the family

Spinal muscular atrophy

Looks small
I would like to plot him on an appropriate growth chart
He appears to be wheelchair bound
He has marked wasting over his limbs
He has a poor sitting posture crouching forward
He has a marked kyphoscoliosis with chest deformity
The chest appears bell shape
And he has an abdominal breathing pattern
However he appears bright with no facial muscle involvement
No obvious tongue fasciculation seen
On examination of his peripheral limbs
There is general wasting with hypotonia
There are flexion contractures over knees with tight Achilles tendon
The reflexes are absent
The power is generally reduced
With proximal weakness more pronounced than distal weakness
Functionally he has difficulty combing his hair
But he is still able to write
I would like to proceed to examine his respiratory and cardiovascular system
To look for respiratory compromise, chest infection and associated cor pulmonale
My impression is that he has spinal muscular atrophy type 2 complicating with spinal
deformity with a possibility of obstructive respiratory problems of which I would like to
enquire from the parents any obstructive sleep pattern regarding
Hypoventilation, apnoea, snoring, interrupted sleep, difficulty waking in the morning,
early morning headache, somnolences, and recurrent chest infection
Which would all indicate a need for further investigation with sleep study
While to confirm the diagnosis of SMA, I would like to request for an electromyography,
DNA analysis for the SMN gene deletion and muscle biopsy.
The parents would also need to be screened and counseled on recurrence on subsequent
pregnancy as it is inherited as autosomal recessive.

LMN facial nerve palsy

Well looking
Small for age
On general inspection she has facial asymmetry
With loss of left nasolabial fold
Which is exaggerated while smiling with deviation of her mouth to the right
She is unable to close her left eyes fully
Upon looking upwards, she has loss of wrinkle on the left forehead
All of this signifies a left lower motor neuron facial nerve palsy
As for the aetiology of the left LMN facial nerve palsy
She has a cotton plug in her left ear which is draining purulent discharge
She also has loss of hearing on her left
There is scar behind her left ear which is presumably a mastoidectomy scar
So she probably has a chronic discharging left otitis media complicating with a
mastoiditis and had underwent a mastoidectomy resulting in a left LMN facial nerve
palsy.
All her other cranial nerves are intact.
There is no cerebellar signs.
There is no complication of exposure keratitis.

Course of facial nerve


Facial nerve nucleus originate at pons (in close association with 6th nerve)
Came out from cerebellopontine angle (together with 5,7,8)
Enter middle ear
Going through the stilomastoid foramen
Entering into parotid gland
And branches into 5 division

Juvenile idiopathic arthritis

LOOK
FEEL
MOVE
- active
- passive
FUNCTIONAL

Small
Cushingnoid
No obvious facial rashes
Symmetrical deformity of the hands
Involving the MCP and PIP
With buttoneire deformity of the 2nd to 4th digits
There are some erythema over the PIP
No nail changes (pitting/ ridging)
Wasting of the hypothenar and thenar muscles
Tenderness over the 2nd to 4th MCP and PIP
No tenderness over the wrist
No subluxation detected
The deformity is not fixed as I am able to straighten it passively
She is unable to make a full fist
With limited flexion of her index finger
There is also limited flexion and extension of her wrist
Functionally
She is able to use a pen and write her name
She is able to undo and do her button
However she is unable to open the cap of the bottle due to weakness
And have difficulty turning the key
I would like to proceed to examine her other joints to determined the extent of her disease
She is able to flex her elbow but unable to extend it fully
She had difficulty lifting her hands above her head touching her ears
Put her hands behind her back
Hug herself
Open her mouth as wide as possible
Try to insert in 3 fingers
Feeling for crepitus
Look down touching your chin on the chest
Look up to the ceiling
Turn to the side
Put your ears on your shoulder
Look and feel the spine
Bend forward
Bend to the side
Turn to the side (hip rotation)
Pelvic spring (sacroilitis)
Squat-stand
Stand on toes
Trendelenburg
Walk
Systemic Lupus Erythematosus

Short
Cushingnoid
No obvious facial rashes
On examination of the lower limb
There is good muscle bulk
There are no nails or vasculitic changes noted
There is synovial swelling noted over the medial maleoulus bilaterally
With injection marks over the ankle on the left
There is no increase in warmth over the joints
There is no tenderness elicited over the joints
There is no effusion noted on bulge test and patella tap
On passive movement of the joints
Midtarsal
Subtalar
Ankle dorsi/plantar flexion
Knee flexion/ extension
Hip flexion/ extension
Hip internal / external rotation
Hip abduction/ adduction
Pelvic spring
There is limited abduction of the right hip joint
Suggestive of possibly of avascular necrosis of the femoral hip
Either secondary to the disease process or steroid

EYE EXAMINATION

Nystagmus

On general examination
Well grown but wasted
Alopecia
With mild facial asymmetry
Chemoport on the right anterior chest wall
VP shunt in situ
With craniectomy scars
On examination of the eyes
There is no ptosis
The anterior chamber is clear
Pupils are equal and reactive to light and accommodation
Visual acuity appears intact
And confrontational visual field appears normal
Although I will like to formally test it
There is no opthalmoplegia
But there is nystagmus noted on right lateral gaze
On fundoscopy
Bilateral red reflexes are seen
The fundus appears normal
I will like to test for the cerebellar function
Although the findings might be limited by the weakness
I will also like to check the ears

Impression:
Right lateral gaze nystagmus most probably due to a cerebellar lesion which after taking
into account the general condition is likely to be a brain tumour possibly a
meduloblastoma

Acute visual loss

On general examination
Well looking
There is no facial asymmetry
On examination of the eyes
There is no bruises or scars
There is no ptosis
The anterior chamber is clear
The eyes are red and teary
There is no photophobia
Pupils are dilated and sluggish to light and accommodation
Visual acuity severely impaired especially in the right eye
Which is limited to light perception
While the left eye is limited to counting fingers at about 1 feet
I am unable to do the confrontational visual field as the visual acuity is severely impaired
The eyes movements are normal
There is no opthalmoplegia
On fundoscopy
Bilateral red reflexes are seen
The optic disc margin is blurred and appears hyperaemic bilaterally
The vessels appears normal
There is no exudate or haemorrhage

Impression:
Bilateral optic neuritis
TRO multiple sclerosis
Differential of acute glaucoma
But the eyes are usually red, teary with photophobia

Strabismus

On general examination
She appears small for age
I will like to plot her on an appropriate growth chart
There are stigmata of prematurity
With scaphalocephaly and old venepuncture scars on the dorsum of her hands
On examination of her eyes
There is obvious strabismus demonstrated on light reflection
The right eye is deviated laterally
She is able to fix on the red ball
And follow the red ball in all direction
While maintaining the same angle of strabismus
Indicating that the strabismus is non-paralytic
On the cover and uncover test
She dislike to have her left eye covered
While the right eye does not move on fixation with the left eye covered
The pupils are equal and reactive to light and accommodation
On fundoscopy
The red reflexes are present bilaterally
I have difficulty visualizing the fundus
Preferably I will like to have the room darken and dilate the pupils

Impression:
Small for age with stigmata of prematurity presenting with non-paralytic right exotropia
strabismus and possibility of ambylopia
The strabismus is most probably due to retinopathy of prematurity
She would need a formal eye assessment