Short Case Party! Flashcards
Ricky is a 15yo with poor vision and multiple birthmarks. Please examine him for a cause.
NF-1 SHORT CASE
IHUGVIDEP - BP for HTN 2 RAS, skin lesions
Head - slit lamp exam/fundo; mention hearing, sphenoid dysplasia
Chest - pacts excavatum, CoA
Abdo - mass (phaeo), RAS bruit
MSK - scoliosis, hemihypertrophy, tibial dysplasia
CNS - cognitive fn (low IQ), CN/UL/LL for peripheral neurofibromas/CNS tumours
Ix - slit lamp exam for lisch nodules (90% by age 5), XR spine
What is the diagnostic criteria for NF1?
What are the complications of NF1?
How would you manage these complications?
Sebastian is a 13yo w difficulty walking. Please examine his gait.
DMD SHORT CASE IHUGVIDEP - gait aids (scooter), growth (obesity/cushing/wasting/growth arrest/calf size inc), fasc/abn movements, spine scars, dysmorph, neurocut, posture inc feet. Gait & GOWERS Trendelenberg Toe touch - scoliosis ax LL tone LL power (proximal muscle weakness) LL reflexes (reduced but no absent) Coordination Sensation
Summarise your findings
Is the lesion UMN or LMN?
What are you differentials?
What investigations would you like to do to confirm your dx?
What complications need to be screened for in this condition?
What complications of treatment do you need to consider in this boy?
Sami is a 12mth old with a big head. Please examine.
MACROCEPHALY SHORT CASE
IHUGVIDEP - dysmorphism, head shape, growth & centiles, hydrocephalus (sunset, veins)
Measure the lead - largest measurement x3
Measure the parent’s head
Request HC centile chart
Palpate head, comment on sutures, shape, shunts
Examine eye movements & pupils, visual acuity, fundo (hydrocephalus, IC mass)
Auscultate bruits - temporal, eyes, retroauric (AVM)
Examine back for scars/abnormality, scoliosis
LL exam inc gait first then UL
Dev Ax
Abdo - organomegaly in storage disorders
Summarise you findings.
What is your differential diagnosis?
What is the most common cause of macrocephaly? (benign familial)
What investigations would you like to perform to confirm your diagnosis?
Sami is a 12mth old with a big head. Please examine.
MACROCEPHALY SHORT CASE
IHUGVIDEP - dysmorphism, head shape, growth & centiles, hydrocephalus (sunset, veins)
Measure the head - largest measurement x3
Measure the parent’s head
Request HC centile chart
Palpate head, comment on sutures, shape, shunts
Examine eye movements & pupils, visual acuity, fundo (hydrocephalus, IC mass)
Auscultate bruits - temporal, eyes, retroauric (AVM)
Examine back for scars/abnormality, scoliosis
LL exam inc gait first then UL
Dev Ax
Abdo - organomegaly in storage disorders
Summarise you findings.
What is your differential diagnosis?
What is the most common cause of macrocephaly? (benign familial)
What investigations would you like to perform to confirm your diagnosis?
Amy is a 3 years old. Please examine her cardiovascular system.
CARDIAC & T21 SHORT IHUGVIDEP - must perform HR & RR/comment on cyanosis - normal vitals & WOB, facial features in keeping with T21 Hands - no IE stigmata Radial pulse - normal, no R-R/R-F delay Normal JVP no neck scars Facial features T21, no central cyanosis Chest large sternotomy scar Undisplaced apex beat without heaves or thrills Auscultation pan systolic murmur at apex Abdo no organomegaly
Summarise your findings.
What is your differential diagnosis?
What are you looking for on ECG to differentiate these?
What are you looking for on CXR to differentiate these?
Is there a residual defect/lesion?
