Emma Holiday Review II Flashcards
7 yo M w/ recurrent bruising, hematuria, and hemarthroses.
-prolonged PTT corrected w/ mixing studies
= Hemophilia = congenital clotting factor deficiency
-hemarthroses = characteristic of hemophilia, bleeding into joint space
Heart defect associated w/ DiGeorge Syndrome
Truncus arteriosis = single vessel coming out of both RV and LV instead of separate aorta and pulmonary artery
MR yet friendly and loquacious
Williams
= microdeletion of chr7
- heart defects: supravalvular aortic stenosis
- echolalia
- developmental delay
Differentiate Blackfan-Diamond and Fanconi Anemia
Blackfan-Diamond = abnormal red count w/ normal white and platelet count
Fanconi Anemia = see pancytopenia (white and platelet counts are also low)
-both are genetic causes of anemia
4 yo w/ jerky mov’ts of eyes and legs, bluish skin nodules, and tender abdominal mass
Neuroblastoma
Hematuria + Deafness
Hematuria + Deafness- think Alport Syndrome
-X linked recessive mutation to collagen IV
- severe eczema
- petechiae
- recurrent ear infxn
= Wisckott-Aldrich syndrome = X-linked d/o
- immune deficiency
- eczema
- thrombocytopenia => petechiae, bloody diarrhea
What is the most common B-cell defect?
(a) Complication
Selective IgA deficiency
(a) Anaphylaxis if given blood containing IgA
2 yo w/ hypertension and asymptomatic abdominal mass
Wilm’s tumor
DiGeorge Triad
DiGeorge Syndrome
- conotruncal cardiac anomalies
- hypoplastic thymus => immune deficiency
- hypocalcemia
Common to also have
- palatal abnormalities
- developmental delay
Which clotting factors may a CF pt be deficiency in?
CF pts often have malabsorption of fat-soluble vitamins => vitamin K deficiency => deficient in factors II, VII, IX, X (1972)
Describe the murmur seen in HOCM
Reaction to the following maneuvers
(a) squat
(b) valsalva
(c) exercise
(d) hand grip
HOCM = systolic ejection murmur
(a) better w/ increased preload => improves w/ squat or handgrip
(b) louder w/ decreased preload => louder w/ valsalva, standing, exercise
Describe a Still’s murmur
Systolic vibratory murmur
- below II/VI
- soft
- heart best at lower mid-sternum
7 yo girl w/ non-productive cough and large anterior mediastinal mass on CXR
Non-Hodkin Lymphoma
14 yo boy w/ enlarged, painless, rubbery nodes
- drenching fevers
- 10% weght loss
Hodgkin Lymphoma
15 yo F w/ recurrent epistaxis, heavy menses, and petechiae
- normal platelet count
- increased bleeding time and PTT
= Von Willebrand disease = hereditary coagulation abnormality
-deficient vWF = factor needed for platelet adhesion
Hematuria + hemoptysis
Hematuria + hemoptysis- think Goodpasture’s syndrome
-antibodies
Tx of child w/ HOCM
- Beta blockers or CCB
- ablation or surgical myotomy
- no sports or heavy exercise
W/ a simple test how can you distinguish Wilm’s tumor and neuroblastoma
Urine analysis
-increased HV (homovanillic) or VMA (vanillylmandelic acid) (catecholamine metabolites) in urine of Neuroblastoma
-
14 yo girl w/ no breast development, short stature, high FSH
Turner’s syndrome (XO)
Diagnostic criteria for diabetes
(a) fasting glucose
(b) 2 hr OGTT
(c) Any glucose
Diabetes criteria
(a) fasting glucose > 125 twice
(b) 2hr OGTT > 200
(c) Any glucose > 200 + symptoms
Meds to avoid in children w/ Wisckott-Aldrich syndrome
Wischkott-Aldrich characterized by thrombocytopenia => problems clotting => avoid NSAIDs/aspirin (interfere w/ paltelet fxn)
SCD treatment
(a) Stimulate HbF production
(b) Supportive
(c) Possible cure
(d) Prophylaxis
SCD treatment
(a) Stimulate HbF production w/ hydroxyurea
(b) Aggressively treat infections, manage pain appropriately
(c) Bone marrow transplant cures, but has 10% post op mortality
(d) Prophylactic penicillin to SCD pts 2-6 yoa to prevent infxn w/ encapsulated organisms
Cafe-au-lait spots
Macrocephaly
Seizures
Neurofibromatosis
What additional med to give to kids who get frequent blood transfusions
Deferoxamine = iron chelating agent
-remove excess iron from the body
Anomalies associated w/ Turner’s syndrome
(a) Renal
(b) Vascular
(c) Cardiac
Anomalies associated w/ Turner’s syndrome
(a) Horseshoe kidney
(b) Coarctation of the aortave
(c) Bicuspid aortic valve
-Broad, square face
-Short stature
-Self injurious behavior
Deletion on Chr 17
= Smith Magenis syndrome = complex genetic developmental d/o characterized by intellectual disability + distinct facial features
-due to microdeletion on chromosome 17
Associated murmur of
(a) Transposition of the Great Arteries
(b) Tetralogy of Fallot
(c) Ebstein anomaly
(d) VSD
(e) Endocardial cushion defect
(f) PDA
Murmurs
(a) TGA- none! (unless concurrent PDA or VSD)
(b) Tetralogy of Fallot- harsh SEM and single S2
(c) Ebstein anomaly- holosystolic murmur worse on inspiration
(d) VSD- harsh holosystolic murmur over LL sternal border, loud P2
(e) Endocardial cushion defect- fixed and split S2 + SEM w/ diastolic rumble
(f) PDA- continuous, machine-like murmur w/ bounding pulses (continuous flow murmur)
What is the most common microdeletion in humans?
DiGeorge syndrome
-microdeletion of chr22
Management if II/VI VSD detected in a 2 mo old
If not symptomatic (no FTT, no pHTN), watch and wait
-most close by 1-2 yr
Tetrad of Tetralogy of Fallot
- VSD
- RVH
- Overriding aorta: aorta connected to both LV and RV
- degree of override = degree to which aorta is attached to RV - Pulmonary stenosis: narrowing of RVOT
Infant w/ severe infxns, no thymus or tonsils, severe lymphophenia
SCID
VSD: is louder murmur better or worse
Louder murmur is better- means the defect is small and probably membraneous => more likely to spontaneously close
Tx for Turner’s syndrome
Estrogen replacement for secondary sex characteristics and to avoid osteoporosis
Endocardial cushion defect
(a) Why is surgery urgent
(b) Describe the murmur/heart sound pattern
Endocardial cushion defect
(a) Surgery before pulmonary HTN develops at 6-12 mo
(b) Fixed and split S2 + SEM w/ diastolic rumble
What kind of infections do children w/ DiGeorge syndrome get?
Candida, viruses, PCP pneumonia
15 yo F w/ recurrent epistaxis, heavy menses, and petechiae
-low platelets only on CBC
= ITP = idiopathic thrombocytopenic purpura = autoimmune destruction of platelets
- F > M
- low platelet count w/ normal BM
- presents w/ purpuritic (non blanching) rash + increased tendency to bleed (epistaxis = nose bleeds)
Most common cause of proteinuria in children
Minimal change disease = fusion of the foot processes in the glomerulus
Tx = prednisone for 4-6 weeks
-hypotonia
-hypogonadism
-hyperphagia
-skin picking
-aggression
Deletion on paternal Chr15
= Prader-Willi syndrome = complex genetic syndrome
- unrelenting hunger, never feel full => obesity
- ID
- short stature
SCD pt presenting w/ fatigue and megaloblastic anemia
Most likely folate deficiency
-SCD pts have higher folate needs due to high retic count
17 yo F w/ decreased IgG, IgM, IgE, and IgG but normal B cell count
Combined variable immune deficiency (acquired)
General population risk of Down’s syndrome
1 in 600-700 births
Poor prognosis congenital syndrome associated w/ midline defects
Midline defects: Trisomy 13
- omphalocele
- cleft lip/palate
- holoprosencephaly
- eyes far apart
- heart defects
What are kids w/ Fanconi Anemia at an increased risk for
Increased risk for cancers, especially AML
-b/c the defect is a mutation in DNA repair enzymes
3 yo w/ limp and left leg pain
99.9 F, petechiae, pallor
= Acute Lymphocytic Leukemia
Dx: bone marrow biopsy
18 yo tall lanky boy w/ mild MR, gynecomastia, hypogonadism
Kleinfelter’s syndrome
Complication of combined variable immune deficiency
Increased lymphoid tissue => increased risk of lymphoma
Most common congenital heart defect in Down Syndrome baby
Endocardial cushion defect
Prognosis for Trisomy 18 and Trisomy 13
Prognosis: very poor
-most dont live past 1 yoa, and if do have severe MR
Features of Turner’s
(a) Learning development
(b) Good prognostic indicator
Turner’s (XO)
- hypogonadism => no ovaries
- web neck
- small stature
- shield chest
- heart defect: coarctation of aorta, bicuspid aortic valve
- horseshoe kidney
(a) No delay in development, no learning problems
- so gonadal agenesis is similar to Kleinfelter’s, but not the learning difficulties
(b) Mosaicism = good prognostic features
- some may even have ovaries
Cyanosis at birth w/ holosystolic murmur
-EKG shows LVH
Tricuspid atresia = no connection btwn RA and RV
Most common congenital heart lesion
VSD
Tx for
(a) ITP
(b) VWD
Treatments
(a) ITP: IVIG for 1-2 days, then prednisone. Splenectomy if refractory
- thought that spleen is sight of platelet auto-antibody production
(b) VWD: replace factor VIII (contains vWF) if bleeding continues
- DDAVP for bleeding or pre-op
Describe behaviors of FAS kids
ADHD-like behavior
8 mo w/ glossitis and FTT
- picky eater
- drinks lots of goat’s milk
Folate deficiency
- glossitis = tongue swelling
- goats milk lacks folate
18 mo w/ lot plateletes, WBCs, and profound anemia
- cafe au lait spots
- microcephaly
- absent thumbs
Fanconi anemia = rare genetic d/o, mutation in DNA repair enzyme => pancytopenia (from bone marrow hypoplasia)
Bruton agammaglobulinemia
(a) Blood test results
(b) Mode of inheritance
(c) Common presentation
(d) Explain age of presentation
Bruton agammaglobulinemia = genetic (X-linked) inability to generate mature B-cells
(a) lack of antibodies in circulation
(b) X linked
(c) Presents w/ recurrent infections
ex: 2 yo M w/ multiple ear infxns, diarrheal episodes, and pneumonias
Especially extracellular, encapsulated bacteria
(d) 6-9 mo (when maternal antibodies are gone)
3 yo w/ petechiae, abdominal pain, vomiting and lethargy
- blood diarrhea 5 days ago
- Labs: thrombocytopenia and increased creatinine
HUS = hemolytic uremic syndrome
-follows infxn (most likely E. Coli O157H7), usually w/ bloody diarrhea
- hemolytic anemia
- thrombocytopenia
- acute renal failure
Better prognostic factor for Trisomy 18 and 13
Mosaicism: not all cells have the trisomy feature
Older child w/ exercise tolerance
Loud S1 w/ fixed and split S2
ASD
18 mo old not pick eater w/ Italian mom
- low Hct and Hgb
- MCV 60
(a) Expected RDW
(b) Tx
Thalassemia
(a) Expect low RDS
(b) Tx w/ transfusion and deferoxamine
- deferoxamine = iron chelating agent, binds to free iron in blood stream and enhances it’s excretion
One lab test that can distinguish iron vs. folate deficiency anemia
MCV
- folate deficiency causes megaloblastic anemia
- iron deficiency => microcytic anemia
5 yo w/ purpura, abdominal pain, joint pain
-IgA and C3 deposited in skin
HSP = Henoch Schonlein Purpura
-would also see current jelly stool
What congenital d/o may present w/ joint effusion?
Hemophilia
-X-linked recessive
Common presentation = bleeding into a joint
Ig makeup of Wisckott-Aldrich syndrome
- low IgM
- high IgA and IgE
- slightly low IgG
2 yo child who gets cyanotic and hyperpnea while playing, improves when squats down
Tetralogy of Fallot = cyanotic and hyperpnea (labored breathing) while playing, improves w/ knee-chest position
- VSD
- RA hypertrophy
- over-riding aorta
- pulmonary stenosis
3 week old M w/ seizure, trucus arteriosus, micrognathia
= DiGeorge Syndrome: genetic (deletion)
-heart defects, poor immune fxn, cleft palate, complications of low serum calcium, delayed development
-Elfin-appearance
-friendly
-increased empathy and verbal reasoning ability
Del Chr 7
= Williams syndrome = neurodevelopmental d/o characterized by unusually cheerful children w/ developmental delay but strong language skills
- strong association w/ heart defects
- characteristic facial features: appearance
Trisomy 18
-two most specific findings
Trisomy 18 almost pathognomonic when find SGA + hand finding
Hand finding = 2nd and 5th fingers over 3rd and 4th
Tx for Blackfan-Diamond Anemia
- corticosteroids
- transfusions
- stem cell transplant: thought to be defective stem cell early in RBC lineage
Presentation of Transposition of the great arteries
(a) Increased risk in mothers w/ what
(b) Immediate tx
Cyanotic newborn
-O2 doesn’t improve
(a) Transposition of the great arteries most common in infants of diabetic murmurs
(b) Give PGE1 to keep PDA patent
Physical characteristics of Fragile X syndrome
- macrocephaly
- macroorhidism: unusually large testicles
- large ears
Diagnostic test for ALL
Bone marrow biopsy w/ > 30% lymphoblasts
Current jelly stool
Buzzword for HSP = Henoch Schonlein Purpura
2 associations of PDA
- prematurity
- congenital rubella syndrome
At what age is Kleinfelter’s usually diagnosed
(a) Diagnostic features
(b) Other associated features
Kleinfelter’s (XXY) usually diagnosed at puberty (aka when its delayed)
(a) Diagnostic: features: hypogonadism + small testes
(b) ADHD, learning disability
Flank pain radiating to groin + hematuria
Flank pain radiating to groin + hematuria- think kidney stones
-CT
Serious complication of food poisoning w/ E. Coli O157H7
HUS = Hemolytic Uremic Syndrome
- medical emergency: 5-10% mortality
- hemolysis following blood diarrhea = give away clinical presentation
Triad of findings
- microangiophatic hemolytic anemia
- thrombocytopenia
- acute renal failure
18 mo old picky eater, drinks lots of cow’s milk
- low Hct and Hgb
- MCV 75 w/ low ferritin
(a) Expected TIBC
(b) Tx
Iron deficiency
(a) Expect high TIBC
- low iron around so lots of binding sits open
(b) Tx = oral ferrous salts
Tx for Fanconi Anemia
- corticosteroids
- androgens
- bone marrow transplant
- Mandibular hypoplasia = micrognathia/retrognathia
- Glossoptosis
- Cleft soft palate
Pierre Robin Sequence = developmental sequenced characterized by
-cleft palate
-retrognathia = abnormal jaw/maxilla positioning
micrognathia = unusually small mandible
-glossoptosis = tongue blocking airway
What is a craniopharyngioma?
(a) Cell of origin
Craniopharyngioma = brain tumor from pituitary gland embryonic tissue
Develops from Rathke’s pouch = embryonic precursor to pituitary gland
Tx for SCID
Pediatric emergency- need bone marrow by age 1 or death
What is the cause of the most common type of MR in boys?
Fragile X syndrome
-CGG repeats on the X chrom
Signs of lead poisoning
(a) Behavioral
(b) Location of pain
(c) GI complaints
(d) Constitutional
(e) Development
Lead poisoning
(a) Hyperactivity or irritability
(b) Pain in abdomen or joints
(c) GI: constipation, nausea, vomiting
(d) Fatigue
(e) Developmental delay, impaired growth
SCD pt presents w/ fever, cough, CP, chills, SOB
Acute chest syndrome
- pulmonary infarction
- most common cause of death
HA worse in morning + seizure, ataxia, vomiting
Brain tumor
-most likely infratentorial (kids more likely to get infratentorial tumors)
Hematuria
(a) 1-2 days after runny nose, sore throat, cough
(b) 1-2 weeks after sore throat or skin infxn
Hematuria
(a) 1-2 days after runny nose, sore throat, cough- think Bergers disease (IgA nephropathy)
(b) 1-2 weeks after sore throat or skin infxn- think Post Strep glomerulonephritis
- test = ASO titer
Explain the pathophysiology of a SCD kid coming in w/
(a) swollen, painful hands and feet
(b) excruciating pain in extremities, ulcers, hip pain
(c) Acute drop in hematocrit w/ very low retic count
(d) Proteinuria, high creatinine
(e) Point tenderness of femur, fever, and malaise
Sickle cel disease
(a) Swollen, painful hands and feet: dactylitis secondary to necrosis of small bones
(b) Excruciating pain: pain crisis, ischemic damage secondary to sickling
(c) Acute drop in Hct w/ low retic: aplastic crisis (parvo B19 virus)
(d) Kidney infarcts due to sickles RBC
(e) Point tenderness: osteomyelitis, most common bug is salmonella
Most common heart defect in a Turner’s baby
Coarctation of the Aorta
Definition of
(a) Nephritic syndrome
(b) Nephrotic
Definitions
(a) Nephritic syndrome- proteinuria (but 3.5g/24hr), hypoalbuminemia, edema, hyperlipidemia
Describe the facial features of FAS
Fetal alcohol syndrome characteristic facies
- microcephaly
- smooth philtrum (vertical grove btwn nose and lips)
- thin upper lip
Common medical complications of Downs
(a) Heart
(b) GI
(c) Endocrine
(d) Msk
(e) Neuro
(f) Cancer
Medical complications associated w/ Downs syndrome
(a) Endocardial cushion defect, VSD
- 50% of Down’s pts have heart defect
(b) GI: Hirschsprung’s (lack of innervation to intestines), intestinal (specifically duodenal) atresia
(c) Hypothyroidism
(d) MSK: atlanto-axial instability: excessive mov’t btwn atlas (C1) and C2)l
(e) 30-35x increased risk of Alzheimer’s
(f) 10x increased risk of ALL
Deletion on
(a) Paternal chr15
(b) Maternal ch15
(c) Ch17
(d) Chr7
Deletion on
(a) Paternal chr15 = Prader-Willi
(b) Maternal chr15 = Angelman
(c) Chr17 = Smith Magenis
(d) Chr7 = Williams
What is the most common cause of
(a) sepsis in sickle cell pts
(b) death in sickle cell pts
SCD
(a) Strep pneumo = most common cause of sepsis
(b) Acute chest syndrome due to pulmonary infarction = most common cause of death
Features of Downs syndrome
(a) Eyes
(b) Hands
(c) Tongue
(d) Iris
(e) Mental ability
Downs syndrome (trisomy 21)
(a) Slanted/oblique palpebrae fissures
(b) Single palmar crease = simean crease
(c) Large tongue
(d) White spots on iris
(e) MR, developmental delays
What are the vitamin-K dependent clotting factors
1972
X, IX, VII, II
3 organ systems affected in Marfan’s syndrome
Marfan’s Syndrome
(1) Cardiac: dilated aortic root in children => aneurysm/dissection in adults
(2) MSK: arachrodactyly- long thin tubular bones w/ prominent joints
- arm span > height
(3) Eyes: dislocated lenses
Tetraology of Fallot
(a) What factor dictates degree of symptoms
(b) Mechanism by which knee-chest improves symptoms of hypercyanotic spells
(c) Is O2 therapy helpful?
Tetralogy of Fallot
(a) Degree of pulmonary stenosis dictates symptoms- b/c problem is really the lack of pulmonary blood flow
(b) Knee-chest increases SVR which increases blood flow from the RV into pulm circulation
(c) O2 won’t help b/c problem is lack of pulm blood flow, not oxygenation
Tx for HUS
Treating hemolytic uremic syndrome:
-DONT GIVE PLATELETS
Tx w/ aggressive nutrition (TPN = total parenteral nutrition) + early peritoneal dialysis
Complication of acute rheumatic fever
-mitral stenosis
How to treat a CF pt w/ pneumonia
Most often pseudomonas or colonized w/ b. cepacia =>
Tx w/ piperacillin + tobramycin or ceftazidime
Most common brain tumor in kids
(a) 2nd most common
(b) Which has a better prognosis
Pilocystic astrocytoma of cerebellum
(a) Medulloblastoma
(b) Pilocystic astrocytoma has better prognosis
7 yo F w/ vague CP, pain in several joints, and rash
-EKG shows PR interval prolongation
Acute Rheumatic fever
What are the following features of
(a) rocker-bottom feet
(b) severe MR
(c) microcephaly
(d) Cleft lip/palate
(e) holoprosencephaly
(f) omphalocele
(g) hammer toe
Trisomy syndromes: trisomy 13 (Patau’s) vs. trisomy 18 (Edward’s)
Patau’s: severe MR, microcephaly, cleft lip/palate, holoprosencephaly (cyclops)
Edward’s: rocker bottom feet, microcephaly (both), omphalocele, hammer toe
4 yo w/ normal platelets and WBCs
- Hgb 4
- increased RBC ADA, low retics
- triphalangeal thumbs
= Blackfan-Diamond Anemia = inherited pure red cell aplasia
- associated w/ elevated ADA = adenosine deaminase activity
- BM disease of defective RBC production, other cell lines remain normal
Function of hydroxyurea in SCD
Hydroxyurea stimulants HbF production => diluting the number of sickled RBCs in circulation
-reduces vaso-occlusive episodes
Tx for Tetralogy of Fallot
(a) Immediate
(b) Long term
Tx for Tetralogy of Fallot
(a) Immediate: O2 and knee-chest position
(b) Surgical correction
Bipolar F gives birth to child w/ holosystolic murmur worse on inspiration
Ebstein anomaly
- tricuspid insufficiency
- TV displacement into RV
Kleinfelter’s pts have an increased risk of what cancer?
Gonadal malignancy
Which neonates should be worked up for DiGeorge syndrome?
Any neonate w/ conotruncal heart lesion, hypocalcemia, and/or cleft palate
CF
(a) signs at birth
(b) signs during early childhood
(c) location of mutation
(d) diagnostic sweat test value
CF
(a) Meconium ileus = pathognomonic
- dilated loops, ‘ground glass’
(b) Early childhood: FTT, foul smelling bulky stools, recurrent respiratory infxns and nasal polyps
(c) Chromosome 7- CFTR protein
(d) > 60 mEq/L chloride is diagnostic
Clinical features of selective IgA deficiency
Recurrent URIs, diarrhea
14 yo- 5th percentile in height
- bitemporal hemianopsia
- calcifications in the sella turcica
= Craniopharyngioma = brain tumor from Rathke’s pouch (embryonic pituitary gland tissue)
-bitemporal hemianopsia = loss of peripheral vision due to tumor compressing on optic chiasm (where optic nerves cross near the pituitary)
-Seizures
-Strabismus
-Sociable w/ episodic laughter
Deletion on maternal Chr15
Angelman syndrome = complex genetic syndrome affecting mainly the nervous system, charactrized by frequent smiling and laughter
- epilepsy, ataxia
- MR, severe speech impairment
- strabismus = crossed eye
Percent of kids w/ benign murmers
(a) What types of murmurs are never benign
30% of kids have benign murmurs
ex: stills murmur
(a) Diastolic, or > II/VI are never normal
Tx for PDA
If not closed by week 1: give indomethacin or surgically close
