JM Chapter 9 Flashcards
DxT angina + dyspnoea + blackouts
aortic stenosis
DXT menstrual dysfunction + obesity + hirsutism ->
polycystic ovarian
syndrome
DxT malaise + night sweats + pruritus -
Hodgkin lymphoma
DxT abdominal pain + diarrhoea + fever -
Crohn disease
DxT vertigo + vomiting + tinnitus ,
Ménière syndrome
DxT dizziness + hearing loss + tinnitus , ,
acoustic neuroma
DxT fatigue + muscle weakness + cramps -,
hypokalaemia
Complications of infarction (DIC)
including gangrene from meningococcaemia
Meningococcal infection:
DxT fever + rigors + hypotension
septicaemia
DXT fever + vomiting + headache
meningitis
DxT fatigue + dizziness syncope ,
cardiac arrhythmia
DxT fever + drooling + stridor (child)
epiglottitis
DxT headache + vomiting + altered consciousness
subarachnoid
haemorrhage (SAH)
DxT abdominal pain + amenorrhoea + abnormal vaginal bleeding
ectopic pregnancy
DxT fatigue + dyspnoea on exertion + dizziness
cardiomyopathy
DxT fatigue + weight loss + diarrhoea -,
coeliac disease
DxT anorexia/nausea + faecal leaking + abdominal bloating
faecal impaction
DxT abdominal cramps + flatulence + profuse diarrhoea
giardiasis
DXT lethargy + tiredness arthralgia
haemochromatosis
DxT lethargy + abdominal pains + irritability (in child) -,
lead
poisoning
DxT aching bones + waddling gait + deafness -
Paget disease
DxT malaise + cough + fever (+ erythema nodosum)
sarcoidosis
DxT (male child) snorting, blinking + oral noises (e.g. grunts) t loud
expletives ,
Tourette syndromeI
DxT malaise + fever + cough (# erythema nodosa)
TB or
sarcoidosis
DxT fever + sore throat + cervical lymphadenopathy
EB
mononucleosis
DxT fatigue + a/n/v + sallow skin - chronic
kidney failure
DxT polyuria + polydipsia + skin/orifice infections ,
diabetes mellitus
DXT FUO + cardiac murmur + embolic phenomena -
infective
endocarditis
DxT fatigue + polyarthritis + fever or skin lesions
SLE
DxT loin pain + haematuria + palpable loin mass -
kidney carcinoma
DxT malaise + weight loss + cough -
lung carcinoma
DxT fever + myalgia/headache + non-productive cough -
atypical
pneumonia
DxT malaise + night sweats + painless lymphadenopathy
non-
Hodgkin lymphoma
DXT arthralgia + Raynaud phenomenon + GORD (+ skin changes)
systemic sclerosis
DxT fatigue + headache + jaw claudication
temporal arteritis
DxT weakness + back pain + weight loss
multiple myeloma
DxT lethargy + physical/mental slowing + constipation
hypothyroidism
dysarthria + intention tremor + nystagmus
cerebellar disease
(typical of MS)
visual disturbance (blurred or transient loss)+
weakness in limbs t paraesthesia in limbs
multiple sclerosis
rigidity + bradykinesia + resting tremor
Parkinson disease
tremor (postural or action) + head tremor + absence of
Parkinsonian features
essential tremor
fatiguable and weakness of eyelids and eye
movements + limbs + bulbar muscles (speech and
swallowing)
myasthenia gravis
ascending weakness of limbs + of face + areflexia*
Guillain-Barré
syndrome (GBS)
(episodic) vertigo + tinnitus + hearing loss*
Ménière syndrome
dementia + myoclonus + ataxia
Creutzfeldt-Jakob
disease
drowsiness + vomiting + headache (waking)
intracerebral
pressure
enophthalmos + meiosis + ptosis + anhydrosis
Horner syndrome
blank spell + lip-smacking (or similar automation) +
olfactory/gustatory hallucination
complex partial
seizure
gradual spread (Jacksonian march) of focal jerking
(mouth, arm or leg) or sensory disturbance or (rarely)
visual field disturbance
simple partial
seizure
t intracranial pressure +/or focal signs +/or epilepsy
cerebral tumour
dysphagia + dysphonia/dysarthria + spastic tongue
pseudobulbar
palsy
recurrent: headache (often unilateral) + nausea (+
vomiting) + visual aura*
migraine with aura
(formerly ‘classical
recurrent: severe retro-orbital headache + rhinorrhoea
+ lacrimation*
migraine”)
cluster headache
instantaneous; headache # vomiting + neck stiffness
subarachnoid
haemorrhage until
disproven
headache + visual obscurations + papilloedema (often
in obese young female)
benign intracranial
hypertension
acute and transient; amaurosis fugax or dysphasia or
hemiplegia*
TIA (carotid)
typical facies (temporalis atropy and frontal balding) +
muscle weakness esp. hands (+ myotonia) + cataracts
dystrophia
myotonica (myotonic
dystrophy)
ataxias + Ophthalmoplegia + areflexia*
Miller-Fisher
variant of GBS
vertigo + provoked by movement (especially rolling in
bed) + Hallpike test +ve
BPPV
UMN signs + LMN signs + fasciculations
motor neurone
disease
leg weakness + ataxic gait + clumsiness (appears
about 12 years)
Friedreich ataxia
.limb weakness + flaccid paralysis (day after exercise in
a young person)
familial periodic
paralysis
DXT chorea + abnormal behaviour + dementia + family history
Huntington disease
DxT pallor + jaundice + hepatosplenomegaly -
thalassaemia major
Tx of thalassaemia major
Folate supplementation and a low-iron diet are advisable.
Splenomegaly is a feature
Hereditary spherocytosis
treatment of choice in severe cases.
Hereditary spherocytosis
splenectomy
.:episodic haemolytic anaemia because of the
decreased ability of red blood cells to cope with oxidative stresses. It is an X-linked recessive
inherited disorder with a high prevalence among people of African, Mediterranean or Asian
ancestry. In some countries such as Malaysia there is a national screening program
Glucose-6-phosphate dehydrogenase deficiency
inborn error of metabolism in which the body is unable to metabolise
galactose to glucose.
Galactosaemia
DXT typical facies + hypotonia + single palmar crease
Down syndrome
CHARGE syndrome
Coloboma, heart abnormalities, choanal atresia, development retardation, GU anomalies, ear
abnormalities
gene mutation on chromosome 8
Trisomy 18
Edward syndrome”
Trisomy 13
microcephaly
brain and heart malformation
cleft lip/palate
polydactyly
Patau syndrome’
large prominent ears, long narrow face,
macro-orchidism and intellectual disability.
Fragile X syndrome (FXS)”7
DXT characteristic facies + intellectual disability + large testes
FXS
DXT lanky men + small testes + infertility
Klinefelter syndrome
DxT short stature + webbed neck + facies ,
Turner syndrome
45 chromosomes of XO karyotype
DxT arthritis + pigmentation of ear cartilage + grey-black urine with
alkalisation -
alkaptonuria
Red urine on exposure
porphyria
Blue nappies/diapers
tryptophan malabsorption syndrome
Maple syrup odour (urine and perspiration)
maple syrup urine disease (AR)
DxT odour + hypertonicity + seizures (infancy)
maple syrup urine disease
Mousy body odour
phenylketonuria
Fish-like’ mouth with micrognathia
Turner syndrome
Chipmunk’ facies
thalassaemia maior
‘Doll-like’ facies
glycogen storage disease (G-6-P deficiency)
Elfin face
Williams syndrome
Butterfly-like facial rash in children
tuberous sclerosis
Weak suction + delayed sitting and crawling + hypotonia
Prader-Willi syndrome
Happy puppet’ features
Angelman syndrome
Characteristic eyes; wide-spaced, down-slanting openings, ptosis
Noonan syndrome
Long fingers and limbs
Marfan syndrome
High-pitched meowing cry, low-set ears, mental retardation
‘cat-cry` syndrome (maladie du
crì du chat)
Blue sclera
osteogenesis imperfecta
Colicky midline umbilical abdominal pain (severe) - vomiting - distension =
small bowel obstruction (SBO).
Midline lower abdominal pain - distension - vomiting
large bowel obstruction
(LBO).
DxT pale child + severe ‘colic’ + vomiting
acute intussusception
DXT intense abdominal pain + pale and shocked + back pain
ruptured AAA
DxT anxiety and prostration + intense central pain + profuse vomiting +
bloody diarrhoea -
mesenteric arterial occlusion
DxT localised RIF pain + a/n/v + guarding
acute appendicitis
DxT colicky central pain + vomiting + distension
SBO
DxT colicky pain + distension 4 vomiting
LBO
DxT sudden severe pain + anxious, still, ‘grey’, sweaty + deceptive
improvement -
perforated peptic ulcer
DxT intense pain (loin) - groin + microscopic haematuria
ureteric
colic
DxT severe pain + vomiting + pain radiation -
biliary colic
DxT severe pain + nausea and vomiting + relative lack of abdominal
signs -
acute pancreatitis
DXT acute pain + left-sided radiation + fever
acute diverticulitis
DXT urethritis + conjunctivitis + iritis + arthritis
reactive arthritis