MSK And Other Flashcards
How does ulnar nerve palsy present?
Sensory - medial 1 1/2 fingers
Motor - claw hand, sparing of the air eminence
How does median nerve palsy present?
Sensory - thumb and lateral fingers
Motor - unable to bring thumb and lateral fingers in
How does radial nerve palsy present?
Sensory - anatomical snuffbox
Motor - wrist drop
How does Erbs palsy present?
C5/6 nerve injury
90% completely recover within a year
Asymmetrical Moro
Elbow extension, forearm pronation, wrist flexion
What is Klumpke’s paralysis?
C8/T1 injury
Claw hand
can be associated with Horner syndrome
How does hyper mobility present?
Arthralgia - strengthen muscles around joint, footwear and posture
Delayed walking and clumsiness
How does Ehlers-Danlos present?
Paper like scars
Skin hyper-elasticity
Joint hyper-elasticity
Classical - severe, associated with PPROM and preterm delivery
Vascular - fragile blood vessels
How does polyarticular JIA present?
> 5 joints within 6 months
RF -ve
- 25% ANA positive
- if you get, worse outcome
RF +ve
- 75% ANA positive
- symmetrical, typically hands and feet
- 50% destructive
How does oligoarticular JIA present?
Most common
Typically large joints, swollen +/- pain
ANA positivity correlates with chronic uveitis
Good improvement with methotrexate and infliximab
Most resolve within 6 months, some have a relapse within first year or become polyarticular
How does systemic onset JIA present?
Fever >6 weeks
Macular, salmon pink non pruritic rash - worse with heat
Polyarticular loss, anorexia
Lymphadenopathy, hepatosplenomegaly
Pericarditis, pleural effusions
Anaemia, leukocytosis, thrombocytosis
How is JIA managed?
Pharmacological
- NSAIDS + omeprazole
- intra-articular steroids
- systemic steroids
- DMARDs - methotrexate
- monoclonal antibodies
Non pharmacological
- PT/OT
- hydrotherapy, splints
How is psoriatic arthritis diagnosed?
Chronic inflammatory arthritis <16yrs followed by psoriasis within 15yrs
Dactyl it is
Nail pitting
Rash
FH
How does dermatomyositis present?
Muscle weakness - proximal shoulder and limb girdle
Lethargy
Rash - purple over eyes lids and cheeks, also extensors
What are signs of rickets?
Delayed dentition, dental caries Delayed closure of anterior fontanelle Bow legs Swelling of epiphyses of wrists and ankles Long bone curving Pathological #
What foot deformities can be seen?
Toe walking - normal until 3. CP, DMD, leg length discrepancy, ASD
Flat feet - resolves around 6
Intoeing
Foot drop
Talipes - parental PT, casting
How is HSP managed?
Urine dip - haematuria +/- proteinuria
Blood pressure
FBC/U&E/clotting
NSAID only if normal renal function
Severe abdo pain, arthritis - consider PO pred
If HTN, macroscopic haematuria or proteinuria - weight, height, BP, PCR, throat swab, bloods
How is HSP monitored?
Initial weekly urine dip
Review at 3 months and 6 months with BP
Discuss with nephrologist if:
- hypertension
- abnormal renal function
- nephritic syndrome: haematuria, proteinuria, oedema, HTN, renal impairment, oliguria
- nephrotic syndrome: urine PCR raised, low plasma urine
- macroscopic haematuria for >5 days
How does HSP present?
Skin
- erythematous, macular —> purpuric rash over extensors and buttocks
- can be associated with oedema
GI
- abdo pain
- D+V, bloody stools, upper GI haemorrhage
- can be associated with intussusception
Articular
- arthralgia, no effusions
Renal
- haematuria, proteinuria
- nephrotic syndrome
How does ITP present?
Autoimmune - triggered by viral illness
Petechia and purpura with falling platelet count
Usually self limiting and benign - might need IVIG if severe disease. Can be associated with ICH
What are clinical features of anaemia?
Jaundiced
Koilonychia
Pallor of nail beds and mucus membranes
Flow murmur
What causes anaemia?
Defective production/maturation
- iron deficiency
- chronic disease, decreased erythropoietin production
- prematurity
- vitamin B12/folate deficiency
- marrow failure: aplastic anaemia, infiltration, drugs
Loss of red cells
- menstruation
- NSAIDs
- IBD
- CMPA
Excessive destruction
- haemolytic anaemia
How does hereditary spherocytosis present?
Northern European
Pallor
Jaundice
Splenomegaly or splenectomy/cholecystectomy scar
Pigmented gallstones
FBC shows raised reticulocytes and spherocytes
How is hereditary spherocytosis managed?
Folic acid
May require splenectomy - then pneumococcal, meningococcal and HiB vaccinations
What clinical findings are seen in thalassaemia?
Mild jaundice and pallor
Palpable spleen
Can have hypopigmented papules on abdomen from SC desferrioxamine
Extramedullary haemopoiesis
- frontal bossing
- malar hyperplasia
- hepatosplenomegaly
- long bone #
How is thalassaemia managed?
Transfuse >100
Chelation therapy to remove iron - given as 8-12hr SC infusion
Folic acid
Bone marrow transplant
Can have problems with growth and puberty, liver cirrhosis and cardiac problems
What clinical findings are seen with sickle cell disease?
Mild jaundice and pallor
?cholecystectomy scar
Infant splenomegaly, none palpable in older children
Acutely
- infection
- dehydration
- chest sequestration
- abdominal enlarged spleen
- joints dactylitis
How is sickle cell managed?
Asymptomatic until 5-6 months - HbF to HbA
Chronic anaemia - only transfused if chronic pain
May require hydroxyurea
Jaundice - raised unconjugated bilirubin
Aplastic crisis - typically secondary to parvovirus
Acute painful crises - dactylitis, abdo pain, bone pain
Tx: warmth, hydration, oxygen, analgesia
Splenic sequestration - rapid enlargement, blood pools in spleen and causes circulatory collapse
Tx: blood transfusion
Functional asplenia - secondary to autosplenectomy (multiple infarcts), at risk of infection from encapsulated organisms
Tx: full immunisation and Pen V
Acute chest syndrome: acute resp illness with new chest x-ray findings, drop in Hb, pain
Tx: abx, oxygen, transfusion
Stroke: exchange transfusion, annual screening of transcranial Doppler
What is haemophilia A?
Reduced factor VIII
Raised APTT, otherwise normal clotting
May have severe bruising at birth/post imms
Otherwise when crawling - typically bleeding into joints (haemarthroses)
Joint swollen and warm - may cause degenerative changes or fixed joint
How is haemophilia managed?
Mild - vasopressin (releases endogenous factor VIII)
Tranexamic acid
Avoid NSAIDs
Recombinant factor VIII - can develop inhibitors
PT
What is haemophilia B?
Low factor IX
What is Von Willebrand disease?
Carrier protein to protect factor VII from enzymes and mediate platelet adhesions
nosebleed and easy bruising
Tx: vasopressin and tranexamic acid
How is eczema treated?
EDUCATION (application of emollients/recognition of infection) Avoid allergens and exacerbating factors Nail care - keep short Emollients (E45, cetraben) Topical steroids (hydrocortisone, eumovate, betnovate, dermovate) Tacrolimus Occlusive bandaging PTx Antibiotics/antivirals
How does psoriasis present?
Well demarcated, red plaques over extensor surfaces
How do infantile haemangiomas present?
Appear at 1-2 months
Rapid expansion in first year, then stationary for another year and then slowly involute.
50% gone at 5yrs, 90% gone at 9yrs
Complications: ulceration, infection, haemorrhage
May interfere with vision, urination or airway
Can involve liver and be fatal in untreated
Tx: propranolol, corticosteroids, laser therapy
Kasabach Merrit syndrome - enlarging haemangioma causing platelet, clotting factor and red cell consumption
How does generalised lipodystrophy present?
Tall, advanced skeletal maturation, prominent muscles, cliteromegaly/penilemegaly
Acanthosis nigricans, hirsutism, hepatomegaly, insulin resistant diabetes
Can cause systemic symptoms: renal, cardiac, neuro, seizures, developmental delay, hyperinsulinaemia/hypertriglyceridaemia
What causes molluscum contagiosum?
Poxvirus
Most resolve within 18 months
How does ichthyosis present?
Dry, thickened skin
Can present at birth as a collodion baby
Complications: corneal dystrophy, infection, faltering growth
Treat with emollients, PO retinoids, abx
How does ectodermal dysplasia present?
Usually X-linked
Unable to sweat - can lead to hyperthermia
Nails: thick, fragile, dysmorphic
Skin: dry, atrophic, wrinkled
Hair: sparse
Facies: thick lips, saddle nose, frontal bossing, maxillary hypoplasia, cleft lip/palate
Eye: dry, corneal ulcers
Teeth: early use of prosthesis
Mucosa: dry mouth, thick nasal secretions
Can lead to recurrent chest infections, otitis media and dysphagia
Faltering growth
How does epidermolysis bullosa present?
Development of vesicles, bullae or erosions in response to trauma
Varies in severity
Can cause oesophageal strictures, anaemia, secondary infection, joint contractions, skin cancer
What causes erythema multiforme?
Infection: herpes simplex, mycoplasma, EBV
Infiltration: leukaemia, lymphoma
Inflammation: SLE
Iatrogenic: penicillin, NSAIDS
Can have mucosal involvement
What is Stevens-Johnson syndrome?
Prodromal illness
Severe erosion of >2 mucosal surfaces
Can lead to high fluid loss
If >30% involvement is TEN
How are preterm babies plotted on growth charts?
If 32-36+6 plot on preterm bit
Then plot with cGA until 1yr if >32 or 2yrs if <32
How do you calculate mid parental height?
(Dad’s height + mum’s height) / 2
+/- 7cm
Should be within 8.5cm
What is the normal pattern of growth of children?
Infancy - nutrition
Childhood - GH + IGF-1
Puberty - sex steroids
Catch-up growth - infants born IUGR/SGA who catch up centiles, usually happens by 4yrs
Catch-down growth - infants born LGA who fall through the centiles and then follow a lower centile
What is constitutional delay in growth/puberty and what needs to be ruled out?
Slowed height velocity just before puberty therefore crosses down centiles
Check when parents went through puberty
Ix may show low LH/FSH and young bone age
Check no chronic disease/endocrine condition
Rule out Turners
What is precocious puberty?
Breast development <8yrs
Testicular volume 4ml <9yrs
May be tall for familial height
What causes delayed bone age?
High cortisol Emotional deprivation Delayed puberty (low androgens/oestrogen) Poor nutrition GH deficiency Chronic disease Turner syndrome Constitutional delay
What causes advanced bone age?
Increased androgens/oestrogen (precocious puberty)
Hyperthyroidism
Sotos syndrome (cerebral gigantism)
Weaver syndrome
What are causes of tall stature?
Familial
Obesity
Syndromes: Marfan Homocystinuria Sotos Kleinfelters Beckwith-Wiedemann
Endocrine:
Hyperthyroidism
Precocious puberty - brain tumour, CAH, adrenal tumour
GH excess
What examination findings are seen in Marfan?
Tall for family size (but one parent may have it)
Hands - arachnodactyly (ask to encircle little finger and thumb around wrist), thumb adducts across palm
Head - long, thin face, high arched palate, dental crowding
- lens dislocation, up and in
Chest - pectus excavatum/carinatum
- aortic root dilation (diastolic murmur)
- mitral valve prolapse (late systolic murmur at apex)
Back - scoliosis/kyphosis
Hands to floor
Pes planus
How is Marfans managed?
Yearly echo to assess aortic root dimensions
Opthalmology
Regular BP
How does homocystinuria present?
Similar to Marfan but Joint contracture Ruddy complexion IQ affected Osteoporosis No cardiac involvement Thromboembolic risk
How does Klinefelter present?
Male XXY Tall Small testes Delayed puberty Poor facial/pubic hair growth Low IQ Breast cancer risk
How does XYY present?
Tall
Normal IQ
Behavioural problems
How does Sotos present?
Born LGA with macrocephaly
Face - hypertelorism, prominent forehead and chin
Large hands/feet/ears/nose/genitalia
Hypotonia +/- dyspraxia
Normal final adult height
What are causes of short stature?
Familial short stature
Constitutional delay of growth and puberty
IUGR –> chronic disease process
Endocrine
- GH deficiency
- hypothyroidism
- Cushing syndrome
Syndrome
- Turner
- Noonan
- Russell-Silver
- Prader-Willi
- Cornelia de Lange
Skeletal dysplasia
- achondroplasia
- hypochondroplasia
Emotional deprivation/neglect
How is GH deficiency diagnosed?
Midfacial hypoplasia
Excess subcutaneous fat
Check IGF-1 level
Insulin tolerance test - give a dose of insulin and then measure GH levels every 15 mins
What are indications for GH treatment?
GH deficiency
Turner
SHOX deficiency
Prader-Willi
Chronic renal insufficiency
SGA without catchup at 4yrs
What are side effects of GH treatment?
SC injection
Given every day
Lipoatrophy/hypertrophy Transient headache Oedema Hypothyroidism Scoliosis - in patients who were always going to develop it Arthralgia SUFE Insulin resistance - if diabetic
How does Turners present?
Short stature - plot growth on specific chart
ARMS
- oedema of hands
- hypoplastic nails
- short 4th/5th metacarpal
- wide carrying angle
HEAD/NECK
- recurrent otitis media
- webbed neck
- high arched palate
CHEST
- wide spaced nipples
- Coarc, bicuspid aortic valve, aortic dissection
- ?breast development
ABDOMEN
- primary amenorrhoea, delayed puberty, streak ovaries
- hyperlipidaemia
- T2DM
- HTN
What screening is done in Turner syndrome?
Cardiac screen GH replacement Oestrogen/progesterone replacement Educational needs Audiology HTN Coeliac
How does Noonan present?
Short stature
HANDS
- cubitus valgus
FACE
- hypertelorism
- epicathic folds
- ptosis
- micrognathia
- low set eaars
- deep philtrum
ABDO
- hernia
- crypto-orchidm
How does Russell-Silver present?
Short stature
Normal head circumference - but looks big
ARMS
- hemi-hypertrophy
- clinodactyly
- camptodactyly (fixed flexion)
HEAD
- small, triangular face with micrognathia
- blue sclerae
- prominent nasal bridge and downturned mouth
ABDO
- hypospadius/undescended testes
- feeding difficulties
How does mucopolysaccharidoses present?
Short stature
ARMS
- carpal tunnel
HEAD
- coarse facial features (thick lips, frontal bossing, broad nose)
- cornea ?clouding
- cherry red spot
- nasal discharge and upper airway obstruction
CHEST
- congestive heart failure
ABDO
- umbilical hernia
- hepatosplenomegaly
OTHER
- joint stiffness
- kyphosis/scoliosis
- developmental examination
What are types of MPS?
Hunters - no corneal clouding, GDD
Hurlers - corneal clouding, GDD
Morquio - corneal clouding, normal intelligence
Sanfillipo - less physical but severe GDD
How does achondroplasia present?
Short stature - has specific growth chart
LIMBS
- short, broad hands with trident appearance
- ligamental laxity
- rhizomelic limb shortening
- tibial bowing
- evidence of spinal cord compression
FACE
- frontal bossing
- flat nasal bridge
- large head
- chronic otitis media
- dental malocclusion
CHEST
- pulmonary hypertension secondary to recurrent sleep apnoea
- spirometry - reduced lung capacity
What causes cushingoid appearance?
ACTH dependent
- Cushing’s disease (pituitary tumour causing ACTH release)
- ectopic ACTH releasing tumour
ACTH independent
- excess steroids
- adrenal tumour
- McCune Albright syndrome
How is a cushingoid child examined?
Small stature - plot on height/weight chart
Features - moon face, thin skin with striae, hump back
?Cause of steroid requirement
HANDS
- check BP - may be raised
- proximal myopathy
- axillary hair
FACE
- facial features
- acne
ABDO
- scars from abdominal surgery
TO COMPLETE
- pubertal stages
- fundoscopy: pituitary tumour causing papilloedema
- full examine of system causing disease
How to examine thyroid?
GENERAL
- cachexic/overweight
HANDS
- tremor (hyper)
- cool/warm peripheries
- pulse rate and rhythm
- clubbing
- measure BP
- proximal myopathy
- REFLEXES (slow in hypo)
HEAD
- exophthalmos/ptosis
- ophthalmoplegia
- lid oedema/lag
NECK Inspection - goitre - if scar ?hoarse voicce - take a drink, thyroid moves up stick tongue out - thyroglossal cyst moves up - examine tongue for thyroglossal cyst
Palpation
- stand behind, size, shape, consistency
- drink
- lymphadenopathy
Percussion
- sternum for retrosternal extension
Auscultation
- mass for bruit
TO COMPLETE
- plot growth
- stage puberty
- euthyroid/hyper/hypo
- other signs of autoimmunity
What are thyroid symptoms?
Energy levels School performance Heat/cold intolerance Sweatiness Constipation/diarrhoea Appetite, weight loss/gain Muscle weakness
Causes of goitre?
Autoimmune thyroiditis - Hashimoto
Graves
Simple - normal function
Hyperplasia - iodine deficiency
Diffuse nodular - thyroiditis, carcinoma, Langerhan’s cell histiocytosis
If euthyroid - don’t treat, check antibodies
What causes neck lumps?
Infection
- reactive after oral infection can last months
- TB/EBV/CMV/Bartonella/toxoplasmosis
Infiltration
- thyroid malignancy
- sternomastoid tumour
- goitre
Idiopathic
- thyroglossal cyst
- haemangioma
- branchial cyst
