Presentations Flashcards
target like mass abdo scan
intussception
A 10-month-old infant, 3 day history of fever and a new onset rash affecting the arms, legs and abdomen that began today. Despite this fever the child has been his usual self and does not seem to be irritated by the rash.
On closer inspection, the rash appears erythematous with small bumps that are merging together. None of the lesions have scabbed over. The rash is predominantly on the limbs and there are no signs of excoriation. The child is now afebrile at 36.9ºC.
Roseola infantum caused by human herpes virus 6
acute cyclical colicky abdominal pain and ‘currant jelly” stools. It may also present with vomiting, which in later stages may become bilious, but this is a rare and late feature
intussception
Contralateral hemiparesis and sensory loss, lower extremity > upper
Anterior cerebral artery
Contralateral hemiparesis and sensory loss, upper extremity > lower, Contralateral homonymous hemianopia, Aphasia
Middle cerebral artery
Contralateral homonymous hemianopia with macular sparing, Visual agnosia
Posterior cerebral artery
Ipsilateral CN III palsy, Contralateral weakness of upper and lower extremity
Weber’s syndrome (branches of the posterior cerebral artery that supply the midbrain)
Ipsilateral: facial pain and temperature loss, Contralateral: limb/torso pain and temperature loss, Ataxia, nystagmus
Posterior inferior cerebellar artery (lateral medullary syndrome, Wallenberg syndrome)
Symptoms are similar to Wallenberg’s (see above), but: Ipsilateral: facial paralysis and deafness {vertigo and vomiting, ipsilateral facial paralysis and deafness }
Anterior inferior cerebellar artery (lateral pontine syndrome)
a curtain coming down over their vision and episodes often recur.
Retinal/ophthalmic artery- Amaurosis fugax is a term used to describe transient monocular visual loss due to atherosclerosis of the ipsilateral internal carotid artery which causes lack of blood flow to central retinal artery
complete paralysis of voluntary muscles, very low GCS
Basilar artery- locked in syndrome
contralteral symptoms: either isolated hemiparesis, hemisensory loss or hemiparesis with limb ataxia
“Lacunar strokes - common sites include the basal ganglia, thalamus and internal capsule
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contralateral hemiparesis/hemisensory loss of face arma dn leg, higher cog dysfunction such as aphasia, homonymous hemianopia
total anteroir ciruclation infact, if only 2 = partial
A 3-year-old boy is brought into the emergency department with cough and noisy breathing following a 3-day history of coryzal symptoms. On examination, he is afebrile but has harsh vibrating noise on inspiration, intercostal recession and a cough. He is systemically well
croup
A 5 month old baby, fever 38.2, coroyzal, struggling to feed< 75% of normal, RR of 70,
bronchiolitis
A 9-day-old pre-term neonate stops tolerating his cow’s milk feeds given by the nurses in the special care baby unit. He vomited after the most recent feed and the nurse noticed bile in the vomit. Stools are normal consistency but the last stool contained fresh red blood. On examination he is well hydrated but his abdomen is grossly distended and an urgent abdominal x-ray is requested. X-ray shows distended loops of bowel with thickening of the bowel wall
NEC
A father brings his 16-day old baby presents to the emergency department. The baby is visibly jaundiced and distressed, and the father explains the baby has not been feeding well since yesterday. Examination reveals hepatomegaly and splenomegaly. A newborn jaundice screen indicates no infection, normal thyroid function tests, raised conjugated bilirubin, liver transaminases and bile acids. The urine is negative for reducing substances
biliary atresia
a baby with a history of untreated prolonged jaundice becomes less responsive, floppy, drowsy, poor feeding
kernicterus
murmur continuous blowing noise heard just below the clavicles
venous hum (innocent murmur)
Low-pitched sound heard at the lower left sternal edge
stills murmur (innocenct) - consider other things
normal first heart sound with a continuous crescendo-decrescendo “machinery” murmur that may continue during the second heart sound, making the second heart sound difficult to hear.
PDA
mid-systolic, crescendo-decrescendo murmur loudest at the upper left sternal border with a fixed split second heart sound
atrial septal defect
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Learning disability
Edward’s syndrome - trisomy 18
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Also rocker-bottom feet
Patau syndrome - trisomy 13
Short stature
Broad forehead
Downward sloping eyes with ptosis
Hypertelorism (wide space between the eyes)
Prominent nasolabial folds
Low set ears
Webbed neck
Widely spaced nipples
Noonan syndrome
‘male turners’
autosomal dominant
defect on chromosome 12
pulmonary valve stenosis, hypertrophic cardiomyopathy, ASD
cryptochordism
factor XI deficiency (coagulation)
Tall stature
Long neck
Long limbs
Long fingers (arachnodactyly)
High arch palate
Hypermobility
Pectus carinatum or pectus excavatum
Downward sloping palpable fissures
Marfan’s syndrome
autosomal dominant connective tissue disorder
FBN1 gene on chromosome 15 that codes for protein fibrillin-1
mitral and aortic valve prolapse, aortic aneurysm
ACE inhibitors and beta blockers to reduce strain on heart
Constant insatiable hunger that leads to obesity
Poor muscle tone as an infant (hypotonia)
Mild-moderate learning disability
Hypogonadism
Dysmorphic features
Narrow forehead
Almond shaped eyes
Strabismus
prader-willi
loss of functioning genes on proximal arm of chromosome 15 (deletion from father or both from mother)
growth hormone to improve muscle development and body composition
Delayed development and learning disability
Severe delay or absence of speech development
Coordination and balance problems (ataxia)
Fascination with water
Happy demeanour
Inappropriate laughter
Hand flapping
Abnormal sleep patterns
Epilepsy
Attention-deficit hyperactivity disorder
Dysmorphic features
Microcephaly
Fair skin, light hair and blue eyes
angelman
loss of function of the UBE3A gene, specifically the copy of the gene that is inherited from the mother. This can be caused by a deletion on chromosome 15, a specific mutation in this gene or where two copies of chromosome 15 are contributed by the father, with no copy from the mother.
Broad forehead
Starburst eyes (a star-like pattern on the iris)
Flattened nasal bridge
Long philtrum
Wide mouth with widely spaced teeth
Small chin
Very sociable trusting personality
Mild learning disability
elfin-like facies
characteristic like affect - very friendly and social
learning difficulties
William syndrome
deletion of genetic material on one copy of chromosome 7
Supravalvular aortic stenosis (narrowing just above the aortic valve)
Attention-deficit hyperactivity disorder
Hypertension
transient neonatal hypercalcaemia
FISH studies
Travellers diarrhoea
Develops 2 to 5 days after:
Raw or improperly cooked poultry
Untreated water
Unpasteurised milk
Abdominal cramps
Diarrhoea often with blood
Vomiting
Fever
Cambylobacter jejuni
Abx if rf such as heart failure or HIV:
azithromycin or ciprofloxacin
Gastroenteritis symptoms soon after eating leftover fried rice that has been left at room temperature. It has a short incubation period after eating the rice before symptoms occur, and they recover within 24 hours.
Bacillus cereus
eating raw or undercooked pork can cause this infection. It is also spread through contamination with the urine or faeces of other mammal such as rats and rabbits.
watery or bloody diarrhoea, abdominal pain, fever and lymphadenopathy. Incubation is 4 to 7 days and the illness can last longer than other causes of enteritis with symptoms lasting 3 weeks or more.
Yersinia Enterocolitica
Infection may not cause any symptoms, or it may cause chronic diarrhoea.
Giardiasis
Metronidazole
Gastroenteritis spread through contact with infected faeces, unwashed salads or contaminated water.
E.coli 0157
Shigella
Both produce shiga toxin which can cause haemolytic uraemic syndrome
Gastroenteritis spread by eating raw eggs or poultry, or food contaminated with the infected faeces of small animals.
Salmonella
Parkinsonism
Autonomic disturbance : erectile dysfunction often early feature, postural hypotension, atonic bladder
Cerebellar signs eg ataxia
multi-system atrophy
MSA-P - Predominant Parkinsonian features
MSA-C - Predominant Cerebellar features
Parkinsonism: bradykinesia prominent
Postural instability and falls
Stiff, broad-based gait
Impairment of vertical gaze (down gaze worse than up gaze - patients may complain of difficulty reading or descending stairs)
Cognitive impairment, primarily frontal lobe dysfunction
Supranucelar palsy / steele-richardson-olszewski syndrome
poor response to l-dopa
Urinary incontinence
Gait abnormality (shuffling and freezing)
Dementia and bradyphrenia (slowness of thought)
Normal pressure hydrocephalus
ventriculoperitoneal shunting (VP shunt)
progressive cognitive impairment (early impairments in attention and executive function rather than just memory loss)
cognition may be fluctuating, in contrast to other forms of dementia
visual hallucinations (other features such as delusions and non-visual hallucinations may also be seen)
later develops parkinsonism
Lewy body dementia
SPECT/DaTSCAN
Both acetylcholinesterase inhibitors (e.g. donepezil, rivastigmine) and memantine can be used as they are in Alzheimer’s
Neuroleptics are contraindicated
May use levodopa for parkinsonism
A 19-year-old man is referred to the general medical clinic. For the past six months his family have noted increasing behavioural and speech problems. He himself has noticed that he is more clumsy than normal and reports excessive salivation. His older brother died of liver disease.
disease
inheritance
investigations
management
Wilsons disease
autosomal recessive
Defect in ATP7B gene located on chromosome 13
Excessive copper deposition in the tissues (increased copper absorption from SI and decreased hepatic copper excretion
Investigations:
- Slit lamp examination for Kayser-Fleischer rings
- Increased 24hr urinary copper excretion
- Reduced serum ceruloplasmin
- Reduced total serum copper
- Free serum copper is increased
Diagnostic : genetic analysis of ATP7B gene
Penicillamine (chelates copper)
Bitemporal hemianopia
Midline lesion at chiasm
upper quadrant defect > lower quadrant defect = inferior chiasmal compression, commonly a pituitary tumour
lower quadrant defect > upper quadrant defect = superior chiasmal compression, commonly a craniopharyngioma
Right nasal hemianopia
Lesion involving right perichaismal area
Left homonymous hemianopia
Lesion or pressure on right optic tract (posterior to chiasm, before optic radiations)
Lesion or pressure across all right optic radiations
Left homonymous hemianopia with macular sparing
Lesion in right occipital lobe (both banks of calcarine fissure)
Left superior homonymous quadrantanopia
PITS = parietal inferior, temporal superior therefore;
Temporal as superior
Right sided tract
Lesion to the right inferior optic radiations in the temporal lobe (meyer’s loop)
Right inferior homonymous quadrantanopia
PITS = parietal inferior, temporal superior therefore;
Parietal as inferior
Right visual field so left optic tract
Lesion to the left superior optic radiations in the parietal lobe
“neonate Evidence of heart failure (e.g. oedema), Gallop rhythm heard on auscultation characterised by the addition of the third and fourth heart sounds, Cyanosis, Shortness of breath and tachypnoea, Poor feeding
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ebsteins anomaly
neonate a pan-systolic murmur more prominently heard at the left lower sternal border in the third and fourth intercostal spaces. There may be a systolic thrill on palpation.
VSD
