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
“
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
“
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
A 5-day old infant presents to the paediatric assessment unit with poor feeding, tachypnoea and drowsiness.He was born at 38 weeks via normal vaginal delivery and was discharged within 24 hours after a newborn check was normal.On examination, he was also tachycardic with weak femoral pulses bilaterally. The lungs were clear and the liver was enlarged by 2cm.
coarctation of the aorta
neonate ejection systolic murmur heard loudest at the aortic area, which is the second intercostal space, right sternal border. It has a crescendo-decrescendo character and radiates to the carotids.
congenital aortic stenosis
neonate Ejection systolic murmur heard loudest at the pulmonary area
congenital pulmonary stenosis
A 39 hour old neonate is brought to their GP by their parents. The child has not passed stool since being birthed at home and has started vomiting yellow/green liquid after feeding. On examination the childs stomach is grossly distended but with no palpable masses.
hirschsprung’s disease
2-4 weeks of birth with fever, abdominal distention, diarrhoea (often with blood) and features of sepsis.
Hirschsprung-Associated Enterocolitis
A 4-day-old girl who was diagnosed prenatally with Down’s syndrome and born at 38 weeks gestation presents with bilious vomiting and abdominal distension. She is yet to pass meconium.
hirchsprungs disease
A 5-week-old infant is brought into the emergency department by his mother with vomiting after every feed. The vomit is non-bilious, large volume and projectile. His mother reports this was initially small amounts of vomit and infrequent, but has increased in volume and regularity over the past week. The infant appears keen to try feeding again after each vomiting episode
pyloric stenosis
5 year old boy, refusing to weight bear, low grade/absent fever, groin/hip pain
transient synovitis
9 year old child, refusing to weight bear, pain, lethargic, swollen red joint, fever
septic arthritis
“6 year old boy, slow onset hip/groin pain, no trauma, Limp, Restricted hip movements
“
perthes
12 year old obese male undergoing a growth spurt. There may be a history of minor trauma that triggers the onset of symptoms. Suspect SUFE if the pain is disproportionate to the severity of the trauma. Hip, groin, thigh or knee pain, Restricted range of hip movement, Painful limp, When examining the patient, they will prefer to keep the hip in external rotation.
SUFE
A 3-year-old girl is brought to her general practitioner by her mother. She has had a dry cough and runny nose for the last 7 days, with a 6-day history of fevers up to 38.7ºC that have been resistant to paracetamol and ibuprofen. On examination, she appears miserable and generally unwell. Her tongue appears bright red and there is a maculopapular rash on her trunk. There is bilateral conjunctival injection with no obvious discharge. There is palpable submandibular lymphadenopathy.
kawasaki
A 3-year-old child presents to the general practitioner accompanied by his mother. He has been suffering from a high fever in the past 24 hours, accompanied by a throat ache. On examination, the child looks feverish but comfortable. You can notice a rash on both his arms which is more intense in the cubital fossas. The lesions are erythematous and rough in texture. The throat looks red and the tongue appears crimson red in colour too.
scarlet fever
You are called to see a 91-year-old woman due to a skin rash. She has had a long admission following a fall and clavicular fracture. Her rehabilitation has been limited due to symptomatic postural hypotension and she is on day 5 of a course of pivmecillinam for a urinary tract infection. On examination there are large, flaccid, blisters over her arms and trunk with an erythematous macular rash. There are purpuric areas over her chest. In some areas, there is desquamation of the blisters exposing red dermis. She has red, crusted lips with multiple deep ulcers inside her mouth.
steven-johnsons
frequent respiratory infections in a child with parents who are related
Primary ciliary dyskinesia (PCD)
12 year old joint inflammation, salmon pink rash, enlarged lymph nodes, splenomegaly, muscle pain, high swining fevers
systemic JIA/stills
child with arthritis in more than 5 joints, occasional fever
polyarticular arthritis
female < 6 years, 4 or less joints, affects knees, elbows etc, uveitis
oligoarticular/pauarticular arthritis -
MC JIA, ANA +ve
male > 6 years tenderness on wrists, ankles, hips
enthesitis JIA,
HLA B27 positive MRI
“Diarrhoea usually non-bloody, Weight loss more prominent, Upper gastrointestinal symptoms, mouth ulcers, perianal disease, Abdominal mass palpable in the right iliac fossa”
crohns
“Bloody diarrhoea more common, Abdominal pain in the left lower quadrant, Tenesmus”
ulcerative colitis
“abdo pain relieved by defecation, change in bowel habit, bloating, mucus”
IBS
“A 23-year-old man was driving a car at high speed whilst intoxicated, he was wearing a seat belt. The car collides with a brick wall at around 140km/h. When he arrives in the emergency department he is comatose. His CT scan appears to be normal. He remains in a persistent vegetative state.”
diffuse axonal injury
if they also have a bleed it will be subdural
About 90% of survivors with severe diffuse axonal injury remain unconscious. The 10% that regain consciousness are often severely impaired.
Management
Preventing secondary brain injury eg swelling etc.
“A 25-year-old male is brought to the emergency department after being struck on the side of the head with a bottle in a nightclub. According to one of his accompanying friends, he was knocked unconscious initially but then regained consciousness. An ambulance was called after the patient lost consciousness again. The admission CT head scan shows an intracranial haemorrhage.”
extradural hematoma
hypersensitive in bi-convex/lentiform brain ct
extradural hematoma
lemon shape (lemon thrown at head)
bi-convex - if youre vexxed you puff out in anger
“A 59-year-old man attends his GP with increasing mild confusion. This came on 2 weeks ago and has been getting progressively worse, both in his and his husband’s opinion. His past medical history is significant for being in a road traffic collision 6 weeks prior. At the time, he was discharged from the emergency department with no injuries but did suffer a head injury. Since then, he reports no headache, nausea or changes in vision.”
subdural hematoma
slow onset, fluctuating conscioussness/confusion
Sudden onset occipital headache (‘thunderclap’ or ‘baseball bat’), severe (‘worst of my life’
Nausea and vomiting
Meningism (photophobia, neck stiffness)
subarachnoid haemorrhage
A 54-year-old man attends the GP complaining of double vision. He says it is worse when he walks down the stairs.
On inspection, he is sitting with his head tilted towards the right. The left eye deviates supero-laterally.
left trochlear never palsy
head tilt away from lesion.
Palsy results in defective downward gaze → vertical diplopia.
Palsy results in defective abduction → horizontal diplopia
abducens (6th) nerve palsy
uvula deviation and loss of gag reflex
vagus nerve
uvula deviates away from lesion
tounge deviation
cranial nerve 12
tounge deviates towards lesion
isolated foot drop and may have sensory loss on dorusm of foot
common peroneal nerve palsy
conservative management is appropriate. Leg crossing, squatting and kneeling should be avoided. Symptoms typically improve over 2-3 months.*
Sensory loss dorsum of foot
Weakness in foot and big toe dorsiflexion (foot drop)
Reflexes intact
Positive sciatic nerve stretch test
Hip abductors are also likely to be weak (superior gluteal nerve).
L5 radiculopathy
Sensory loss over anterior thigh
Weak quadriceps
Reduced knee reflex
Positive femoral stretch test
L3 radiculopathy
Sensory loss anterior aspect of knee
Weak quadriceps
Reduced knee reflex
Positive femoral stretch test
L4 radiculopathy
Sensory loss posterolateral aspect of leg and lateral aspect of foot
Weakness in plantar flexion of foot
Reduced ankle reflex
Positive sciatic nerve stretch test
S1 radiculopathy
“A 16 year old girl presents to her GP with abdominal pain which occurs at the end of each month. She has not started her periods yet, but has secondary sexual characteristics. Pregnancy test is negative and she is not sexually active.”
imperforate hymen
“A 15-year-old teenage girl presents with delayed puberty, having not commenced her menses. She is well in her self generally, with no significant medical history.
On examination, she is of slim build, with small breasts. There is no pubic hair present. Her abdomen is soft and non-tender, though there are marble-sized groin swellings bilaterally”
androgen insensitivity syndrome
Intellectual disability
Long, narrow face
Large ears
Large testicles after puberty
Hypermobile joints (particularly in the hands)
Attention deficit hyperactivity disorder (ADHD)
Autism
Seizures
Fragile X syndrome
mutation in the FMR1 (fragile X mental retardation 1) gene on the X chromosome
speech and language delay
It is X-linked, but it is unclear whether it is dominant or recessive. Males are always affected, but females can vary in how much they are affected.
Taller height
Wider hips
Gynaecomastia
Weaker muscles
Small testicles
Reduced libido
Shyness
Infertility
Subtle learning difficulties (particularly affecting speech and language)
Klinefelter syndrome
additional X chromosome, making them 47 XXY
Testosterone injections improve many of the symptoms
Advanced IVF techniques have the potential to allow fertility
Breast reduction surgery for cosmetic purposes
There is a slight increased risk of:
Breast cancer compared with other males (but still less than females)
Osteoporosis
Diabetes
Anxiety and depression
gradual onset
Visible or palpable hard and tender lump at the tibial tuberosity
Pain in the anterior aspect of the knee
The pain is exacerbated by physical activity, kneeling and on extension of the knee
Osgood-Schlatter disease
A rare complication is a full avulsion fracture (would need surgery)
out of g6pd and spherocytosis, which is x linked? which is autosomal dominant
g6pd - X linked
spherocytosis - autosomal dominant
out of g6pd and spherocytosis, which affects people of northen european descent, which affects people of african and mediterranean descent?
g6pd - african and med
spherocytosis - north europe
neonatal jaundice is often seen
intravascular haemolysis
gallstones are common
splenomegaly may be present
Heinz bodies on blood films. Bite and blister cells may also be seen
gdpd deficiency
failure to thrive
jaundice, gallstones
splenomegaly
aplastic crisis precipitated by parvovirus infection
degree of haemolysis variable
MCHC elevated
spherocytes on blood film
spherocytosis
bite and blister cells on blood film
g6pd deficiency
Thick, white discharge that does not typically smell
Vulval and vaginal itching, irritation or discomfort
thrush
Candida albicans
Female
Odourless purulent discharge, possibly green or yellow
Dysuria
Pelvic pain
Gonorrhoea
Male
Odourless purulent discharge, possibly green or yellow
Dysuria
Testicular pain or swelling (epididymo-orchitis)
Gonorrhoea
Vaginal discharge
Itching
Dysuria (painful urination)
Dyspareunia (painful sex)
Balanitis (inflammation to the glans penis)
The typical description of the vaginal discharge is frothy and yellow-green, although this can vary significantly. It may have a fishy smell.
Examination of the cervix can reveal a characteristic “strawberry cervix”
trichomonas
Ulcers or blistering lesions affecting the genital area
Neuropathic type pain (tingling, burning or shooting)
Flu-like symptoms (e.g. fatigue and headaches)
Dysuria (painful urination)
Inguinal lymphadenopathy
Symptoms can last three weeks in a primary infection. Recurrent episodes are usually milder and resolve more quickly.
herpes-2
A painless genital ulcer (chancre). This tends to resolve over 3 – 8 weeks.
Local lymphadenopathy
primary syphillis
Chancre has healed, with symptoms of:
Maculopapular rash
Condylomata lata (grey wart-like lesions around the genitals and anus)
Low-grade fever
Lymphadenopathy
Alopecia (localised hair loss)
Oral lesions
secondary syphillis
These symptoms can resolve after 3 – 12 weeks and the patient can enter the latent stage
presentations tertiary syphillis
Gummatous lesions (gummas are granulomatous lesions that can affect the skin, organs and bones)
Aortic aneurysms
Neurosyphilis
Headache
Altered behaviour
Dementia
Tabes dorsalis (demyelination affecting the spinal cord posterior columns)
Ocular syphilis (affecting the eyes)
Paralysis
Sensory impairment
pupils that accomodate but don’t react
neurosyphillis
Argyll-Robertson pupil
fishy-smelling watery grey or white vaginal discharge
not itchy
bacterial vaginosis
“clue cells” on microscopy
bacterial vaginosis
Pelvic or lower abdominal pain
Abnormal vaginal discharge
Abnormal bleeding (intermenstrual or postcoital)
Pain during sex (dyspareunia)
Fever
Dysuria
Examination findings may reveal:
Pelvic tenderness
Cervical motion tenderness (cervical excitation)
Inflamed cervix (cervicitis)
Purulent discharge
Patients may have a fever and other signs of sepsis.
PID
on genitals/anus
small (2 - 5 mm) fleshy protuberances which are slightly pigmented
may bleed or itch
genital warts (condylomata accuminata)
HPV 6 and 11
third trimester, itching hands and feet
obstetric cholestasis
post menopausal bleeding
endometrial cancer until proven otherwise
60 year old female
abdominal distension and bloating
abdominal and pelvic pain
urinary symptoms e.g. Urgency
early satiety
Diarrhoea
Abdominal mass
ovarian cancer
“signet-ring” cells on histology gynae
Krukenberg tumours (metastasis in the ovary, usually from a gastrointestinal tract cancer, particularly the stomach)
lump or ulcer on the labia majora
inguinal lymphadenopathy
?vulval cancer
white patches on vulva that may scar
itch is prominent
may result in pain during intercourse or urination
Lichen sclerosus
A 30-year-old woman at 32 weeks gestation presents to the Emergency Department with a small amount of painless vaginal bleeding that came on spontaneously. Obstetric examination finds a cephalic presentation with high presenting part. The uterus is non-tender. The cervical os is closed and the cervix appears normal.
placenta praevia
A 6-month-old boy is brought to the GP with his mother with failure to appropriately gain weight despite exclusive breastfeeding. He has met the developmental milestones but appears small for his age. Vaccinations are up-to-date.
He was born in Nigeria via spontaneous vaginal delivery and the family moved to the UK a month ago.
On examination, he appears well and his vitals are within normal limits. He is yet to develop any teeth. He has a slightly prominent forehead and swelling of both wrists.
rickets
A 2-month-old boy is brought to the general practitioner by his mother. Since birth he has been feeding poorly, is often agitated and has a blue-tinge to his lips after prolonged episodes of crying. He was born at term, weighing 2400 grams at delivery. Examination reveals an ejection systolic murmur at the left sternal edge.
tetralogy of fallot
Microcytic anaemia (low mean corpuscular volume)
Fatigue
Pallor
Jaundice
Gallstones
Splenomegaly
Poor growth and development
Pronounced forehead and malar eminences
thalassemia
Pathophysiology thalassameia
Defects in alpha-globin chains leads to alpha thalassaemia. Defects in the beta-globin chains leads to beta thalassaemia.
red blood cells are more fragile and break down more easily
Why do you need to check iron levels in thalassemia
Due to risk of iron overload from transfusions etc.
Fatigue
Liver cirrhosis
Infertility and impotence
Heart failure
Arthritis
Diabetes
Osteoporosis and joint pain
intracranial haemorrhage
haematomas
cord bleeding in neonates.
Spontaneous bleeding into joints (haemoathrosis) and muscles
haemophilia
Pain after exercise
Intermittent swelling and locking
Osteochondritis dissecans
