STEP 1 FIRST AID RAPID REVIEW
QUESTIONS AND VERIFIED
DETAILED SOLUTIONS GRADED A+
Infant with "cherry-red" spot on macula, hepatosplenomegaly, and
neurodegeneration
Niemann-Pick disease (sphingomyelinase deficiency)
Foam cells
Infant with cleft lip/palate, microcephaly or holoprosencephaly (1 hemisphere),
polydactyly, cutis aplasia
Patau syndrome (Trisomy 13)
Mnemonic: P=puberty at 13
Infant with hypoglycemia, hepatomegaly (glycogen in liver), AR
Cori disease III (debranching enzyme deficiency)
Von Gierke disease IV (glucose-6-phosphate deficiency in ER, more severe with
increased blood lactate)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart
defect
Edwards Syndrome (trisomy 18)
Mnemonic: E=election age at 18
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
Large rash with bull's eye appearance
,Borrelia burgdorferi (Erythema migrans from Ixodes tic bite)
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
Male child, recurrent bacterial and enterovirus/giardia (lack of IgA) infections after
6 months of life, no mature B cells
Bruton tyrosine kinase disease (X-linked agammaglobulinemia)
Lack of immunoglobulin, Tx: IVIG
More than 10 mmHg fall in systolic blood pressure during inspiration
Pulsus paradoxus (seen in cardiac tamponade, asthma, obstructive sleep apnea,
pericarditis and croup)
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of
GpIIb/IIIa)
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
and pulsus paradoxus
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
, AR Pompe disease II (lysosomal alpha-1,4-glucosidase deficiency)
Can't breakdown lysosomes to release glycogen in liver or muscle (PAS+)
Sudden death in young athletes
Differential: Myocete disarray (B-myosin heavy chain or myosin-binding protein C
mutation)
Tx: replace enzyme
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
No lactation postpartum, absent menstruation, cold intolerance, loss of pubic hair
Sheehan syndrome (pituitary necrosis -- NOT hemorrhage)
Nystagmus, intention tremor, scanning speech, bilateral internucular
ophthalmoplegia
Muscular Sclerosis
Dx: Oligoclonal IgG bands and periventricular plaques on MRI
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma
pneumoniae, infectious mononucleosis, CLL)
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
Painful, raised red lesions on pads of fingers/toes
QUESTIONS AND VERIFIED
DETAILED SOLUTIONS GRADED A+
Infant with "cherry-red" spot on macula, hepatosplenomegaly, and
neurodegeneration
Niemann-Pick disease (sphingomyelinase deficiency)
Foam cells
Infant with cleft lip/palate, microcephaly or holoprosencephaly (1 hemisphere),
polydactyly, cutis aplasia
Patau syndrome (Trisomy 13)
Mnemonic: P=puberty at 13
Infant with hypoglycemia, hepatomegaly (glycogen in liver), AR
Cori disease III (debranching enzyme deficiency)
Von Gierke disease IV (glucose-6-phosphate deficiency in ER, more severe with
increased blood lactate)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart
defect
Edwards Syndrome (trisomy 18)
Mnemonic: E=election age at 18
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
Large rash with bull's eye appearance
,Borrelia burgdorferi (Erythema migrans from Ixodes tic bite)
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
Male child, recurrent bacterial and enterovirus/giardia (lack of IgA) infections after
6 months of life, no mature B cells
Bruton tyrosine kinase disease (X-linked agammaglobulinemia)
Lack of immunoglobulin, Tx: IVIG
More than 10 mmHg fall in systolic blood pressure during inspiration
Pulsus paradoxus (seen in cardiac tamponade, asthma, obstructive sleep apnea,
pericarditis and croup)
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of
GpIIb/IIIa)
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
and pulsus paradoxus
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
, AR Pompe disease II (lysosomal alpha-1,4-glucosidase deficiency)
Can't breakdown lysosomes to release glycogen in liver or muscle (PAS+)
Sudden death in young athletes
Differential: Myocete disarray (B-myosin heavy chain or myosin-binding protein C
mutation)
Tx: replace enzyme
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
No lactation postpartum, absent menstruation, cold intolerance, loss of pubic hair
Sheehan syndrome (pituitary necrosis -- NOT hemorrhage)
Nystagmus, intention tremor, scanning speech, bilateral internucular
ophthalmoplegia
Muscular Sclerosis
Dx: Oligoclonal IgG bands and periventricular plaques on MRI
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma
pneumoniae, infectious mononucleosis, CLL)
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
Painful, raised red lesions on pads of fingers/toes
