Pediatrics Flashcards
APGAR scoring is a method of assessing newborn infants at ——— and ——— minutes of life with a scale of ————
1
5
0–10
(Further assessments are recorded at 5-minute intervals until a score of at least 7 is achieved)
Apgar scores do not predict the
overall infant outcome, nor are they diagnostic
Apgar scoring scale:
Apgar score is based on appearance, pulse, grimace, activity, and respiration
Pulse of 130, acrocyanotic, grimaces to stimulation, moving all extremities and crying. Apgar Score?
8
Note: 2pts for pulse, 1 for color, 1 for irritability (to get full points for withdraw, they have to withdraw from stimulus), 2 for tone, and 2 for respiration)
What does the APGAR tell you at each time point?
General info about how the newborn tolerated labor (1min) and the newborn’s response to resuscitation (5min)
What does the APGAR not tell you?
What to do next (does not guide therapy) OR
How the baby will turn out (does NOT predict neurologic outcome)
When assessing Moro on an LGA newborn, the right arm remains extended and medially rotated: Dx and Next step?
Dx: Erb-Duchenne C5-C6 (upper trunk).
(Klumpke is C8-T1 (lower trunk))
Next step: Refer if not better by 3- 6mo for neuroplasty
Erb-Duchenne Palsy: Cause? Appearance?
Cause: Most common brachial plexus injury, caused by lateral traction (on neck during delivery) of the C5 and C6 nerve roots (upper trunk)
Apperence: The arm is adducted and internally rotated, but the grasp reflex is intact (If C7 is involved, the wrist is held in a flexed position (waiter’s tip))
Brachial plexus injuries can occur during birth when traction is used with
shoulder dystocia
Klumpke Palsy: Cause? Appearance?
Cause: Traction or tear of lower trunk C8-T1 roots (upward force on arm during delivery; Least frequent brachial plexus injury)
Appearance: The wrist and hand are weak (claw-hand) and lack a grasp reflex. If sympathetic nerves are involved, unilateral miosis (Horner syndrome) may result.
When palpating the clavicles on a LGA newborn, you feel crepitus and discontinuity on the left: Dx?
Dx: Clavicular Fracture.
Tx: Will form a callus in 1wk. No tx needed. Can use figure of 8 splint.
(Different from adult med; newborns bones more apt for remodeling)
Complete clavicular fracture may diminish the ——— reflex.
ipsilateral Moro
All macrosomic infants should be examined for signs of —(2)—
birth trauma and hypoglycemia
A medical student rotating in the nursery notices severe scalp swelling in a newborn male. The edema from the lesion crosses suture lines. What is the Dx and NBSIM?
Caput Succedaneum. Is simply a swelling of the scalp secondary to “barotrauma” from going through the birth canal. Completely benign and resolves within days.
A medical student rotating in the nursery notices severe scalp swelling in a newborn female. The edema from the lesion does not cross suture lines. What is the Dx and NBSIM?
Cephalohematoma. Is a subperiosteal bleed. Resolves in weeks-months. Increased risk for anemia/jaundice as the blood resorbs.
A medical student rotating in the nursery notices streaks of blood emanating from the vagina of a 3 day old newborn female. What is the Dx and NBSIM?
Normal/reassure the parents. Arises secondary to withdrawal of maternal hormones (uterus shedding).
Caput succedaneum vs cephalohematoma: Presentation and location?
Caput succedaneum is external to the periosteum. Caput crosses the midline of the skull and suture lines, unlike a cephalohematoma, which is below the periosteum and does not cross suture line
Caput succedaneum: Cause? Presentation? Prognosis?
Cephalohematoma: Cause? Presentation? Prognosis?
See pic: Edema. Crosses suture lines.
Note: pitting edema
See pic: “Fluctuance. Doesn’t cross suture lines.”
Maternal diabetes can lead to what in newborn after placental supply of glucose is removed?
Elevation of maternal glucose
causes elevated fetal glucose, leading to fetal hyperinsulinism, which can result in hypoglycemia in the newborn after placental supply of glucose is removed.
Mothers with pre-existing diabetes (esp type 1): important management steps
Control glc in the 1st trimester & take 4mg folate/day
Mothers with pre-existing diabetes (esp type 1): important associated birth defects
Placental insufficiency/IUGR, Congenital heart dz, NTD, Caudal regression syndrome, Small left colon syndrome
Umbilical vein vs artery: oxygenation of blood
Umbilical vein = oxygenated blood
Umbilical artery = deoxygenated blood
2 y/o M w/ multiple ear infxns, diarrheal episodes & pneumonias. No tonsils seen on exam. Dx? Time course? Labs?
Dx: Bruton agammaglobulinemia -x-linked
(No tonsils=b cell problem)
Time course: infx start @ 6-9mo (why?)
Labs: Absence of B cells on flow cytometry, low levels of all Igs
Define X-linked (Bruton) agammaglobulinemia
Defect in BTK, a tyrosine kinase gene, no B-cell maturation; X-linked recessive (increased in Boys)
Key findings X-linked (Bruton) agammaglobulinemia
■ Male
■ No palpable lymph nodes
■ No tonsil
■ Respiratory and gastrointestinal infections (Recurrent/chronic sinopulmonary infections with encapsulated organisms
(Haemophilus influenzae, Streptococcus pneumoniae); Severe/chronic gastrointestinal infections due to lack of IgA (Giardia))
B cell, IgG, IgM, IgA, IgE for X-linked (Bruton) agammaglobulinemia:
All decreased
Diagnosing X-linked (Bruton) agammaglobulinemia:
Look for very low or absent mature B lymphocytes and all immunoglobulin classes. No production of protective antibodies occurs.
Infants with Bruton’s agammaglobulinemia remain well for the first ——— due to ———
6 months
the presence of maternal IgG antibodies
Treating X-linked (Bruton) agammaglobulinemia:
Monthly IV immunoglobulin. (Immunoglobulin infusions confer passive immunity.) Prophylactic antibiotics if immunoglobulin treatment alone fails. Live vaccines are contraindicated; other vaccines lack an appreciable antibody response
X-linked (Bruton) agammaglobulinemia: Defecit, B cells, T cells, Ig, Clinical, Infections, TX
Deficit: X-linked arrest of B-cell
maturation
B cells: no
T cells: normal
Ig: no/low titer
Clinical: no palpable lymph nodes, no tonsils
Infections: Pneumococcal, Rotaviral, Giardia
Tx: IVIG
17 y/o F with decreased levels of IgG, IgM, IgE, and IgA but normal numbers of B cells. Dx? Complications?
Dx: CVID (acquired) (note: adolescent or young adult, b cells normal, but immunoglobulins are low) (less severe and comes on later than Bruton agammaglobulinemia)
Complications: Increased lymphoid tissue —> increased risk for lymphoma
Define Common Variable Immunodeficiency (CVID)
Group of B cell disorders with Defect in B-cell differentiation
CVID most commonly presents when?
in second decade of life
Key features CVID
■ Lymphadenopathy, splenomegaly.
■ Association with autoimmune diseases: RA, lupus, idiopathic thrombocytopenia.
■ Lymphoid interstitial pneumonitis, granulomas on various organs.
■ Increased risk of malignancies: lymphoma.
■ Sinopulmonary infections: encapsulated organisms.
■ Gastrointestinal (GI) infections: Giardia.
B cell, IgG, IgM, IgA, IgE for CVID:
All decreased except B cells normal
CVID: Defecit, B cells, T cells, Ig, Clinical, Infections, TX
Deficit: Dysfunctional B-cells
Can be familial
B cells: normal
T cells: normal
Ig: Low IgA, IgG, and/or IgM. Low titers
Clinical: Lymphadenopathy, autoimmune lymphomas
Infections: Pneumococcal,
Giardia, sinusitis
Tx: IVIG
Most common B-cell defect. Recurrent URIs, diarrhea.
Dx? Complication?
Dx: Selective IgA deficiency
Complication: Anaphylaxis reaction if given blood containing IgA
Selective IgA deficiency: Define
Deficiency of IgA-predominant immunoglobulin on mucosal surfaces due to failure of B cells to differentiate into IgA-secreting plasma cells
(This is the most common of the primary antibody deficiencies, occurring in 1 in 600 persons)
Selective IgA deficiency: signs and syptoms
Usually asymptomatic, but may have recurrent respiratory or GI infections; Allergies; Associated with autoimmune diseases: celiac disease
IgA is the major immunoglobulin within the
upper airway
Patients with selective IgA deficiency can develop ——— with blood product exposure that may lead to ———
anti-IgA antibodies
fatal anaphylaxis with blood or IVIG infusion (IVIG should be used with caution in patients with IgA deficiency)
B cell, IgG, IgM, IgA, IgE for selective IgA deficiency:
All normal except IgA low
Selective IgA deficiency: Defecit, B cells, T cells, Ig, Clinical, Infections, TX
Deficit: No switch to IgA
B cells: normal
T cells: normal
Ig: No IgA; Normal IgM, IgG, and titers
Clinical: Allergies, celiac disease
Infections: Mostly respiratory or gastrointestinal
Tx: IVIG is contraindicated
A 2-month-old infant with a heart defect and cleft palate has cough and tachypnea. He has a history of seizures. Chest x-ray shows diffuse infiltrates and no thymic shadow. Serum calcium is 6.5 mg/dL. Think?
DiGeorge syndrome
DiGeorge syndrome is a ———deficiency that results from failure of development of the ———, which are responsible for ——— development. These result in what presentation clinically? ———
T-cell
third and fourth pharyngeal pouches (due to deletion on chromosome 22)
thymus and parathyroid gland
lack of T-cell-mediated immunity, tetany, and congenital defects of the heart and great vessels (Without treatment, the condition is fatal)
Signs and sxs of DiGeorge syndrome:
■ Dysmorphic features: hypertelorism, cleft palate.
■ Congenital heart disease: truncus arteriosus, interrupted aortic arch.
■ Hypoparathyroidism presents as hypocalcemic seizures (“tetany”).
■ Recurrent infections: opportunistic infections when T-lymphocyte counts
are low.
DiGeorge Syndrome = Catch 22
Cardiac abnormality
Abnormal facies
Thymic hypoplasia
Cleft palate
Hypocalcemia
22 (abnormality on chromosome 22)
——— is the diagnostic test of choice for all microdeletion/ duplication syndromes. ——— does not have a high enough resolution to detect all of them. ——— is a screening test and should only be used to test family members after the breakpoints of the deletion have already been determined.
Chromosomal microarray
Karyotype
FISH
3wk old M with seizure, truncus arteriosus, micrognathia. Dx?
DiGeorge Syndrome
(“And no thymus - I couldn’t give u no thymus, that would give it away”; truncus arteriosus tightly linked with DiGeorge)
Genetic defect DiGeorge Syndrome
Microdeletion on Chr22
What types of infxns in childhood in DiGeorge Syndrome?
Candida, viruses, PCP pneumonia
(“Funguses, viruses- things T cells usually take care of”)
Truncus arteriosus definition:
A single arterial trunk that emerges from the ventricles, supplying the coronary, pulmonary, and systemic circulations (truncus overrides a VSD)
Truncus arteriosus association:
DiGeorge syndrome
Sign and sxs of Truncus arteriosus:
CXR shows cardiomegaly and increased pulmonary vascular markings.
CHF and cyanosis in the first week
Initial left-to-right shunt symptoms include: Dyspnea, Frequent respiratory infections, FTT
The second heart sound is prominent and single due to the single semilunar valve.
Peripheral pulses are strong, often bounding.
Often, a systolic ejection click can be appreciated.
——— account for most cases of failure to thrive (FTT) in the United States.
Psychosocial reasons
(FTT is caused by inadequate nutrition. It is defined as a weight below the third percentile with a decreased rate of weight gain, or a fall off the growth chart by two percentiles.)
Heart defect associated with DiGeorge syndrome. CXR shows ↑pulm blood flow and bi-ventricular hypertrophy. Dx? Tx?
Dx: Truncus arteriosis. Eisenmenger develops early.
Tx: Do surg in 1st few weeks of life
Define Eisenmenger syndrome
This syndrome can occur in unrepaired left-to-right shunts (i.e., VSD) that cause an increased pressure load on the pulmonary vasculature; Pulmonary vasculature pressure overload can result in irreversible arteri- ole changes; Pulmonary vascular obstructive disease may develop over several years; The pulmonary HTN reverses the left-to-right shunt; Persistent HTN maintains an enlarged right ventricle and can dilate the main pulmonary segment (evident on CXR)
Infant w/ severe infxns, no thymus or tonsils. Severe lymphopenia. Dx?
SCID. (“This kids is really screwed. No thymus=problem with T cells; no tonsils=problem with B cells; put them together- that’s SCID”)
See infxns w/ bacterial, viral and opportunistic bugs.
A 4-month-old female with FTT presents with respiratory distress. She has a temperature of 101°F (38.3°C), RR 70 breaths/min, and oxygen saturation of 91% (on room air). Thrush and bilateral rhonchi are present but no lymphadenopathy. Her white blood cell count is 16.2/mm3, 83% neutrophils, 11% monocytes. Chest x-ray shows diffuse bilateral interstitial infiltrates. Think:
Pneumocystis jirovecii pneumonia (PCP)
Infection with opportunistic organisms such as PCP is common in infants with SCID. Absence of lymph nodes in an infant with FTT is suggestive of SCID. Thrush, extensive diaper rash, and FTT are the prominent features.
Define SCID
Abnormalities of both humoral and cellular immunity
Onset of SCID at ——— months of age, with key sxs of:
3
No palpable lymph nodes, Opportunistic infections, Failure to thrive
Causes of SCID:
X-linked SCID most common form
Adenosine deaminase deficiency: about 15% of all SCID cases
Signs and sxs SCID
■ Presents within first 3 months with diarrhea, pneumonia, otitis, sepsis, FTT, and skin rashes
■ Increased frequency and/or severity of infections
■ Persistent infection with opportunistic organisms (Candida, mycobacteria,
herpes viruses, CMV, PCP)
■ Absent lymph nodes, hypoplastic thymus
Lab findings SCID:
■ Lymphopenia
■ Decreased serum IgG, IgA, and IgM.
■ Low or no T and B cells.
Inheritance of SCID
MC is XLR.
AR is an ADA deficiency
Tx SCID
Pediatric emergency! Need bone marrow transplant by age 1 or death.
Protective Measures to be taken in SCID:
■ Protective isolation
■ Irradiation of all blood products
■ Avoidance of live vaccines
Tx SCID
■ Aggressive antimicrobial treatment of even mild infections.
■ Recombinant adenosine deaminase replacement
■ Stem cell transplantation or gene therapy.
(Death within first year if untreated.)
A 10-month-old male presents with a temperature of 101.6°F (38.7°C) and a 3 × 4-cm abscess of the left buttock. His WBC count is 19.9/mm3, 77% neutrophils. At the age of 5 months, he had staphylococcal cervical lymphadenitis that required drainage. His uncle also had recurrent abscesses. Think:
CGD.
3 y/o M child w/ recurrent swollen, infected lymph nodes in groin and staph aureus skin abscesses
Dx: Chronic granulomatous disease
Cause: XLR. PMNs can ingest but not kill catalase + bugs. (Why they get recurrent Staph abscesses)
CGD Definition
Most common inherited phagocyte disorder; 70% X-linked, 30% autosomal recessive; NADPH oxidase complex defect leads to defective production of reactive oxygen species in neutrophils and macrophages; Susceptibility to catalase-positive microorganisms; Granulomatous inflammatory responses occur due to macrophage functional impairment.
CGD sxs:
■ Recurrent bacterial and fungal infections that begin in the first year of life: pneumonia, abscesses of the skin, soft tissue, organs (perianal/perirectal, liver, lung), lymphadenitis, osteomyelitis, bacteremia/fungemia, superficial skin infections (cellulitis/impetigo).
■ Growth failure, abnormal wound healing, diarrhea.
■ Hepatomegaly, splenomegaly, lymphadenopathy (enlarged by granulomas).
Catalase-positive infections in CGD include:
Aspergillus, S. aureus, Burkholderia, Serratia, Nocardia, Candida, Salmonella.
(SPACE- Staphylococcus aureus, Pseudomonas, Aspergillus, Candida, Enterobacter)
Dx of CGD with?
Nitrotetrazolium blue (yellow means they have the dz)
New test is Flow cytometry w/ DHR-123 (Dihydrorhodamine oxidation test (preferred))
A 10-month-old boy presents with thrush despite 10 days of nystatin. He had four episodes of otitis media. Physical examination shows thrush and multiple eczema patches. Both tympanic membranes are dull. His WBC is 7.6/mm3, Hb 11.3 g/dL, platelet count 97/mm3. His uncle died in infancy of infection. Think:
Wiskott-Aldrich syndrome.
Wiskott-Aldrich syndrome is an X-linked recessive syndrome characterized by the classic presentation of eczema, thrombocytopenia, and otitis media (immunodeficiency). The initial manifestation usually is petechiae or bleeding in the first few months of life.
An 18 mo male is brought to the ED with shortness of breath. A CXR on admission is notable for a well defined consolidation in the left upper lung lobe. This is the child’s 6th episode of pneumonia in the past 9 mo. He was recently placed on a course of high dose amoxicillin and clavulanate for a severe ear infection. His vital signs include a temperature of 102.9, HR 170 bpm, RR 30 bpm (so severely tachycardic and tachypneic). There is no cervical lymphadenopathy or evidence of reactive hyperplasia in the back of his throat. His mom’s brother died last year from a severe Strep Pneumo infection. What is the most likely cause of this patient’s presentation?
a. Failed development of the 3rd and 4th pharyngeal pouches.
b. Failed differentiation of CD19 and 20+ cells.
c. Deficiency of a dimeric immunoglobulin.
d. Deficiency of an enzyme that deaminates adenosine.
e. X linked mutation in the WASP gene.
The best answer here is B. This child has Bruton’s agammaglobulinemia.
(From btk gene mutation; recurrent bacterial infections)
Note: B cells are CD19 and CD20 positive.
(Hypoplasia of lymphoid tissue classic clue; no tonsils seen)
For Bruton’s agammaglobulinemia, why is sex of the child relevant?
-Consider this diagnosis if you get a history of a boy (it should 100% not be a girl on the NBME)
with recurrent sinopulmonary infections.
-Since the disorder is X linked, you should have a family history of men having this disorder.
For Bruton’s agammaglobulinemia, diagnosis is with?
a simple CBC
For Bruton’s agammaglobulinemia, tx?
Consider giving regular IVIG injections.
Kids w/SCID often present with:
FTT, recurrent opportunistic infections (e.g Candida), and a chronic diarrhea (exams almost always mention diarrhea)
In SCID, you should not find a ——— on a CXR
thymic shadow (just like DiGeorge Syndrome)
In SCID, need to avoid
live attenuated vaccines
Definition Ataxia-telangiectasia
This autosomal-recessive disorder of DNA repair presents as telangiectasias, ataxia, and variable extent of T-cell deficiency, with progressive loss of T helpers. Both humoral and cellular immunodeficiency occur.
Patients with ataxia telangiectasia have ——— deficiencies.
IgA and T Cell
Key features of selective IgA deficiency:
Note: Older kids
Key features of Wiskott-Aldrich syndrome:
Thrombocytopenia, eczema, X linked (so expect to see on test in boys)
Key features of ataxia telangiectasia:
Ataxia before telangiectasia (a before t)
Key features of SCID:
B cell problems (so recurrent bacterial infections) and T cell problems (so recurrent viral and fungal infx)
Multiple causes but big one for exams is adenosine delaminate deficiency; il2 receptor defect can also cause (Remember, IL-2 receptor you find it on essentially every T cell; il2 secreted by T cells: Stimulates growth of helper, cytotoxic, and regulatory T cells, and NK cells)
Sxs tend to show up very early in life before 6mo (compared to Bruton’s agammaglobulinemia showing up after 6 mo)
Sxs leukocyte adhesion deficiency
■ Neutrophilia without inflection
■ Failure of separation of umbilical cord, with secondary omphalitis and sepsis.
■ Poor wound healing.
■ Bacterial infections without pus.
■ Severe gingivitis.
Key points leukocyte adhesion deficiency:
Kid has all these Dz where they form abcesses but there is no pus; or delayed separation of umbilical cord; integrin defect (cd18)
Key points CVID:
See bruton like presentation but in older kid (like teenager); have low levels of most immunoglobulins (give away vs bruton is age range: teenager=cvid; vs <1yo but>6mo=bruton)
Croup: most common pathogen and key sxs/signs
most common pathogen: Parainfluenza virus
key sxs/signs: Barking cough, steeple sign
Epiglottitis: most common pathogen and key sxs/signs
most common pathogen: H. influenzae type B
key sxs/signs: Tripod position, thumb sign
Pulmonary abscess: most common pathogen and key sxs/signs
most common pathogen: S. aureus, group A strep, anaerobes
key sxs/signs: Cavity with air-fluid level
Key diagnostic sign for croup
Steeple sign—narrowing of tracheal air column just below the vocal cords
Dx Epiglottitis
■ Laryngoscopy—swollen, cherry-red epiglottis.
■ Lateral neck x-ray to confirm (obtain portable x-ray): Swollen epiglottis (thumbprint sign)
Cephalosporins coverage by generation:
1st Generation: Good Gram-Positive; Poor Gram-Negative
2nd Generation: OK Gram-Positive; OK Gram-Negative
3rd Generation: Poor Gram-Positive; Good Gram-Negative
4th Generation: Pseudomonas + Good gram-positive and negative
5th Generation: MRSA + Good gram-positive and negative
Cephalosporins drugs in each generation:
First Generation = “FA/PHA”
Second Generation = “Everything Else”
Third Generation = “ONE/TEN/IME”
Fourth Generation = “PI”
Fifth Generation = “ROL”
Croup: X-ray buzzword?
“steeple sign”
Epiglottitis: X-raybuzzword?
“thumbprint sign”
Contrast normal vs consolidated vs atelectatic lung:
Question 1:
Question 2:
