Clinical 1 Flashcards
Prolonged PR on ECG is associated with:
Endocardial cushion defects (e.g. AVSD, ASD - or cardiac surgery in this area)
Ebstein’s
Acute rheumatic fever (carditis)
Congenital heart block (e.g. maternal lupus)
What are the biochemical abnormalities causing prolonged QRS?
Hyperkalemia
Hypothyroidism
Digoxin
What are the main medical things to think about with management of DMD?
- Medical treatment - STEROIDS
Surveillance and management of complications:
- mood and behaviour
- Cognitive impairment slightly more common - Wisckott score to identify areas requiring assistance and strengths, individualised learning plan for appropriate assistance with educational and physical needs
- CVS: cardiomyopathy - regular echo, treat if failure
- Resp: nocturnal failue - PSG + BiPAP. Don’t smoke, treat infections aggressively
- Ortho: Contractures/scoliosis - passive and active exercises, PT assisted programmes
OT for assisted supports, equipment, suitable home environment
Orthotist for orthotics, ortho for surgery
- Nutrition: diet/exercise
- Many will transition to adult services (get to 20s)
What are the social issues that are common in management of DMD?
Family support:
- end of life and palliative (life limiting illness) support from MDA for coping grief and loss
- Steroid side effects - behaviour - handling
- Avoid patronising and overprotective
- Workbridge - vocation planning
- Resources: Parent Project muscular dystrophy (int) or nzord.org.nz (NZ)
- Support with long-term goals (dating, work, etc)
What are the syndromes associated with dextrocardia?
Situs solitus or inversus (midline liver indicates situs ambiguous or heterotaxy)
Primary ciliary dyskinesia (Kartagener syndrome)
Heterotaxy: asplenia (Ivemarks) and polysplenia syndrome
What investigations do you want for dextrocardia and why?
ECG to review atria and ventricle orientation - needs to be reverse positions!
- normal lead placement leads to no R waves
- p axis and SA node in RA position
- q waves in V1/2 if L-TGA
- D-TGA associated with arrhythmia
Echo to review IVC and great vessels
AXR to determine situs
What are the corticosteroid side effects?
CUSHINGOID MAP
Cataract/cushingoid face – moon face/interscapular adiposity Ulcer Striae/skin thinning Hypertension Infection – thrush Necrosis of bone (avascular) Growth - short stature Osteoporosis/obesity Intracerebral pressure elevation (pseudotumour cerebri) Diabetes mellitus - glucose intolerance Myopathy(proximal)/moon face/mood Adipose tissue hypertrophy/acne Pancreatitis/psychosis – behavioural problems
What are the (non-cardiac) causes of hypertension?
MONSTER
Medications
Obesity (steroids/Cushing syndrome/phaeo)
Neonatal history
Symptoms / signs / syndromes (collagen, neurofibromatosis, tuberous sclerosis, SLE)
Trends in family (idiopathic)
Endocrine
Renal
White coat HTN
What causes isolated splenomegaly?
Remember “HIP”
Haematological
- Hereditary spherocytosis (autosomal dominant)
- G6PD deficiency (X-linked recessive)
Infective
- Typhoid
- Subacute bacterial endocarditis
Portal hypertension
What are the complications of splenomegaly?
Hypersplenism – thrombocytopenia
Functional asplenism – immunodeficiency and infection by encapsulated organisms
Splenic infarction
Early satiety (mass effect) causing poor growth
What is chorea caused by and what part of the brain is affected?
Occurs secondary to pathology affecting corpus striatum
Rapid movements: Occurs in: cerebral palsy, Sydenham’s Chorea, Wilson’s Disease, SLE, Moyamoya disease.
Also degenerative conditions such as: Ataxia telangiectasia, Huntington’s Chorea, Lesch Nyhan syndrome, PKU
What is athetosis caused by and what part of the brain is affected?
Athetosis (slow writhing movements, proximal extremeities)
Occurs secondary to pathology affecting the outer putamen
Can accompany chorea in dyskinetic CP, Wilson’s disease, Lesch-Nyhan, ataxia telangiectasia
What are the causes of dystonia?
Drugs (tardive dystonia), degenerative disorders such as Wilson’s, Hallervorden–Spatz diseases and hemiplegia
What are the causes of myoclonus?
Seizure disorder (infantile spasms, benign juvenile myoclonic epilepsy), degenerative conditions (neurocutaneous syndromes, Menkes, TaySachs, Wilson’s), structural brain anomalies (Aicardi syndrome, porencephaly), CVA, infections, and metabolic disorders
What is hemiballismus?
Unilateral random gross throwing movements of the proximal portion of the limb. Caused by contralateral subthalamic pathology
What are the causes of static tremor?
Wilson’s, Parkinson’s, Huntington’s, and Hallervorden-Spatz (pantothenate kinase disorder)
What are the causes of postural tremor?
Postural: most notable when arms outstretched in front of the body
Causes: thyrotoxicosis, phaeo, familial tremor, physiological tremor, Wilson’s
What are the causes of intention tremor?
Marked at the end points of movement. Causes include cerebellar pathology (and Wilson’s disease)
Hemiballismus
What are the causes of unilateral facial palsy?
- Pontine lesion - tumour/CVA/infection
- Posterior fossa - tumour/meningitis
- Peripheral nerve – GBS, Bell’s palsy, Ramsay Hunt, parotid gland tumour, petrous temporal fracture
- Ramsay Hunt – check ears for vesicles
What are the causes of bilateral facial palsy?
Moebius (absent CN VII +/- CN VI, can be unilateral, associated with Poland syndrome, intellectual disability, hypogonads)
Cerebral palsy
Neuromuscular junction (Myasthenia gravis, infant botulism (ptosis + opthalmoplegia)
Dystrophy - myotonic dystrophy (ptosis, distal weakness, myotonia > 5 years, myopathic facies, cataracts), facial-scapular-humeral dystrophy
What investigations might you ask for if a child has bilateral facial palsy?
If you suspect NMJ - ACh receptor antibodies for myasthena gravis, ANA, TFT, EMG
If you suspect dystrophy - CK, DNA for triplet repeat expansions, TFT, BSL
SMA may not show facial weakness (classically ‘bright’ child)
What does lid lag suggest?
Thyrotoxicosis
What does fatiguability on upward gaze suggest and what else might you see?
Myasthenia gravis – particularly if bilateral ptosis or myopathic facies
What findings suggest Horner’s syndrome?
Ptosis Smaller pupil on affected side Lack of sweating on the forehead Light reflex is maintained Impaired sympathetic pathway Heterochromia if early onset
What other areas would you like to examine (aside from face/eyes) if a child has Horner’s syndrome?
Horner’s syndrome can result from a lesion anywhere along the pathway from the posterior hypothalamus, down to the brain stem, lateral column of the spinal cord to C8/ T1 and with the internal carotid artery to the cavernous sinus.
Neck, heart and lungs
What are the possible causes of Horner’s?
Disrupted sympathetic nervous system anywhere from hypothalamus to eye
Brachial plexus, neuroblastoma, tumours/ injuries affecting superior cervical chain or carotid artery
Commonest = post-cardiac surgery
Brain stem (lateral medullary syndrome)
Vascular
Tumour
Syringobulbia/myelia - can result in bilateral Horner’s
Neck
Thyroid mass
Trauma
Carotid
Carotid aneurysm
Carotid dissection
Lung - lung mass
What are the causes of bilateral ptosis?
Myopathy is more likely than myasthenia in the younger age group.
Myopathies: nemaline rod myopathy, centronuclear myopathy, congenital myotonic dystrophy.
What are the causes of unilateral ptosis?
Horner’s syndrome – associated with constriction of the pupil. Most likely congenital due to shoulder traction at birth damaging sympathetic chain – may have hypochromia of affected iris also if congenital. Differential diagnosis - neoplastic lesions along sympathetic chain/apical lung.
CN III nerve lesions – pupil dilated and paralytic squint. Pupil dilatation happens FIRST before ptosis
Facial nerve palsy
What clinical signs should you look for if a child has bilateral ptosis?
Myopathic facies - restricted eye movement, long thin face, drooping mouth, lack of expression, breathlessness.
What would cause binocular diplopia?
Binocular diplopia: Palsies of CN III, IV or VI; ptosis, pupil changes or abnormal eye movements
Thyroid ophthalmopathy causes – proptosis, lid lag, chemosis
Trauma to orbit
What causes a ‘down and out’ eye?
Complete CN III palsy:
Pupils rest down and out.
Paralysis of most eye movement except the lateral rectus and superior abduction (abduction-nerve VI and depression-nerve IV) with a dilated pupil.
Cause: tumour, vascular lesions, arteritis, demyelination.
If you see a head tilt what cranial nerve may be affected?
CN IV lesion:
Paralysis of the superior oblique= diplopia on adducting and looking down.
Head tilt is OPPOSITE. Asking them to tilt their head the other way causes worsening of the diplopia.
What cranial nerve might cause horizontal diplopia?
CN VI:
Failure of abduction.
Covering the eye on the AFFECTED/SAME side causes the outer image to disappear.
Cause: Duane syndrome (limited abduction of the affected eye with retraction of the eyeball into the socket on adduction, which causes eye closure - affects one eye in 80%), tumour, vascular lesions, mononeuritis multiplex.
What are the complications of CF?
Respiratory
Pulmonary hypertension (six month median survival)
Pneumothorax (75% - three year mortality)
Musculoskeletal (HPOA, kyphosis in 25%)
Anaemia
Chronic disease, variceal bleed and poor clotting function, thrombocytopenia from hypersplenism, haemoptysis
Malabsorption and malnutrition (macronutrient and ADEK - unlikely to be clinically evident as most on supplements)
Intestinal obstruction
Diabetes
Chronic liver disease and portal hypertension
Delayed puberty (30%)
Mental state (modulation of affect/self harm)
Hernia (from coughing)
Rectal prolapse (usually in first few years of life)
If a patient has a RIGHT head tilt what CN may be affected?
Left CN IV
What happens to the FEF50%:FIF50% with
- variable extra-thoracic lesions
- variable intra-thoracic lesions
- fixed obstruction
- variable extrathoracic lesions INCREASE ratio (>1)
- variable intrathoracic lesions DECREASE ratio (<0.2)
- fixed obstructions (intrathoracic or extrathoracic) ratio ~1
Pulmonary function tests in diffuse interstitial
pulmonary fibrosis typically show:
- Increased FEV1/FVC %
- FEV, FVC and TLC decrease
- FRC increases due to air trapping
What symptoms would you expect from someone with a flattened/rectangular inspiratory curve?
Extra-thoracic obstruction:
- Bi/unilateral vocal cord paralysis (weak cry, aspiration, resp distress)
- Tracheomalacia (cough, stridor)
- Airway burns
Worse on inspiration because negative pressure narrows/collapses airway inwards; PEEP reduces the obstruction
If you see someone with possible tracheomalacia what might you see on the flow-volume loop?
Flattened/rectangular inspiratory curve
What are the cutoffs for respiratory failure?
The definition of respiratory failure is PaO2 <8
kPa (60mmHg) or PaCO2 >7 kPa (55mmHg)
What happens to FEV1/FVC in restrictive and obstructive lung disease?
- Normal in restrictive, may be increased (normal 75-80%)
- Decreased if obstructive
Describe what happens to the flow-volume loop in restrictive and obstructive lung disease:
- Restrictive - flow less affected, narrow oblong. May be smaller overall
- Obstructive - volume less affected, concave expiratory loop
What diseases lead to decreased FRC?
- Alveolar interstitial diseases
- Thoracic deformities
- Restrictive lung diseases
examples: scoliosis, neuromuscular diseases
Where are the mutations causing cystic fibrosis and what are the most common ones?
- CFTR protein on Chromosome 7
- Commonest is deletion F508 (class 2, protein transport problems) In Australia/NZ - Gly551Asp/G551D (defective regulation of CFTR, class 3) - Gly542X (no CFTR, class 1)
What are the complications of CF treatments?
Aminoglycosides (hearing)
Ciprofloxacin (skin sensitivity, tendinopathy, arthralgia)
Steroids
Previous vascular access
Lung/liver transplantation and immunosuppression
Ejection systolic murmur:
Loudest ABOVE NIPPLE LINE
With a carotid thrill = left ventricular outflow tract obstruction
Without a carotid thrill = right ventricular outflow tract obstruction
PSM:
Loudest BELOW NIPPLE LINE
Mitral regurgitation
Tricuspid regurgitation
Ventricular septal defect
Murmurs at the LEFT upper sternal edge:
Pulmonary area
PS: – harsh, radiates to back, systolic click (variable i.e. decreases with inspiration), soft P2, fixed widened splitting of S2
ASD: Harsh, fixed widened splitting of S2 and systolic pulmonary flow murmur
Coarctation - radiates to the back (left interscapular area); decrescendo diastolic murmur at the third left intercostal space (aortic regurgitation from a bicuspid aortic valve), thrill at the suprasternal notch, ejection click at the apex. Innocent pulmonary flow murmur
Murmur at RIGHT upper sternal edge:
Valvular AS – radiates to carotids, ejection systolic click; decrescendo diastolic murmur at the third left intercostal space (aortic regurgitation from a bicuspid aortic valve or in discrete subvalvular stenosis)
Supravalvular AS - radiation to the neck/apex, right arm blood pressure is greater than the left arm blood pressure, no ejection click
Right BT shunt
Murmur LLSE:
Ventricular septal defect - early systolic murmur (if muscular) or pansystolic (if perimembranous)
Still’s murmur - musical, quieter when sits up
Atrioventricular septal defect – superior axis
Hypertrophic obstructive cardiomyopathy – cardiomegaly, deep Q waves
Tricuspid regurgitation
