Examination Technique

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

Pale, jaundice

Asian/ Indian/ Meditarenean Afrocarribean

Splenomegaly +/- Hepatomegaly +/- Splenomegaly

Pale, jaundice

Small Doll-like facies No stigmata of chronic liver disease No evidence of portal hypertension Hepatomegaly Glikogen storage disease If splenomegaly present  glikogen disease type IV

Small Coarse facies No stigmata of chronic liver disease Hepatosplenomegaly Other storage diseases Gaucher Niemann Pick Mucopolysaccaridoses

Hereditary spherocytosis Thalassaemia Sickle cell

Normal size No stigmata of chronic liver disease No evidence of portal hypertension Hepatomegaly Hepatoblastoma Hepatocellular carcinoma

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