Peds Flashcards
1
Q
Most common complication of sickle cell trait….These patients generally live ___ lives
A
- Gross or microscopic hematuria
- isosthenuria (complications with urine concentration) presents as nocturia and polyuria
- UTI with pregnancy
….normal, healthy lives
2
Q
Laboratory abnormalities associated with infantile pyloric stenosis?
A
hypochloremic, hypokalemic metabolic alkalosis
3
Q
Treatment course of infant with pyloric stenosis showing signs of dehydration?
A
Although pyloromyotomy is treatment of choice, infants showing signs of dehydration or electrolyte imbalances should be admitted for IV rehydration and normalization of electrolytes prior to definitive surgical treatment.
4
Q
Infantile hypertrophic pyloric stenosis is most common in _____ an typically begins at age _____ with ____, ______ after every feed. Classic PE finding?
A
first born boys….3-5 weeks….projectile, non-bilious vomiting…..palpable olive shaped mass
5
Q
Mild Vs Moderate/severe croup? Treatment for both?
A
- Mild (no stridor at rest); tx = corticosteroids
- Moderate/severe (stridor at rest) ; tx = corticosteroids + nebulized epinephrine
6
Q
Tetralogy of Fallot
A
- Right ventricular outflow obstruction (pulomonary stenosis or atresia)
- Right Vent hypertrophy
- Overriding aorta
- Ventricular septal defect
7
Q
Patient position during a tet spell with Tetralogy of Fallot and what it results in
A
Placement of patients in knee-chest position during hypercyanotic spell increases systemic vascular resistance, increases pulmonary blood flow and improves symptoms as well as cyanosis
8
Q
Primary amenorrhea, delayed puberty, short stature, Square- shaped chest and bicuspid aortic valve are suggestive of
A
turner syndrome
9
Q
Initial work up for primary amenorrhea?
A
Pelvic exam and US to evaluate internal female anatomy
10
Q
US findings in turner syndrome?
A
“streak ovaries” due to primary ovarian failure from gonadal dysgenesis
11
Q
Turner syndrome is a sporadic chromosomal disorder which results from….
A
…a complete or partial deletion of the X chromosome; gold standard is karyotyping (45, XO)
12
Q
12 yo with back pain, neurologic dysfunction (urinary incontinence) and palpable step off at lumbo sacral region without fever
A
Spondylolisthesis
13
Q
Complications of Bronchiolitis
A
- Apnea (esp <2yo)
- Respiratory Failure
- recurrent wheezing through childhood
14
Q
Clinical presentation of Bronchiolitis and cause?
A
- Antecedent nasal congestion/discharge and cough
- Wheezing/crackles and respiratory distress
- Cause: RSV
15
Q
When to prophylax against RSV? (3)
What to use?
A
- preterm birth (<29 weeks)
- Chronic lung disease of prematurity
- Hemodynamically significant congenital heart disease
- Use Palivizumab
16
Q
Treatment of RSV?
A
Supportive care
17
Q
Treatment of infant born to mom with active Hep B
A
- Administration of Hep B immune globulin followed by hep B vaccine vaccination
18
Q
Hyposplenic patients are more susceptible to?
A
encapsulated organisms (s. pneumoniae, h. influenzae, n. meningitidis)
19
Q
common childhood vaccinations that are live attenuated?
A
measles, mumps, rubella, chicken pox
20
Q
common childhood vaccinations that are bacterial toxoids?
A
tetanus and diphtheria
21
Q
prophylaxis for sickle cell patients under 5
A
twice daily dose of PEN
22
Q
_____ should be suspected in infant with left axis deviation with small or absent R waves in the precordial leads
A
Tricuspid valve atresia
23
Q
_____ is an x-linked recessive disorder of migration of fetal gonadotropin releasing hormone and olfactory neurons resulting in _______.
A
- Kallmann Syndrome
- hypogonadotropic hypogonadism and rhinencephalon hypoplasia (difficulty with smell)
24
Q
Karyotype of Kallmann syndrome and PE findings?
A
- normal karyotype
- short stature, delayed/absent puberty, absent breast development, males - small external genitalia, lack of secondary sex characteristics, anosmia/hypomia (decreased sense of smell)
- low FSH and LH
25
ddx for decreased hemoglobin and decreased MCV (4)
- iron deficiency
- lead intoxication
- thalassemia
- sideroblastic anemia
26
ddx for decreased hemoglobin, normal MCV, and decreased retic count? (4)
- Leukemia
- aplastic anemia
- infection
- medication side effect
27
ddx for decreased hemoglobin, normal MCV and increased retic count? (3)
- hemorrhage
- Intrinsic hemolysis - inherited defects in RBC membrane (sickle cell) defects in hemoglobin, defect in enzymes
- extrinsic hemoglobin - autoimmune or paroxysmal nocturnal hemoglobinuria
28
ddx for decreased hemoglobin and increased MCV? (2)
- B12 def
| - folate def
29
Niacin deficiency leads to?
pellagra = diarrhea, dermatitis, dementia
30
Niacin Deficiency commonly presents in? and PE findings?
- people with bowel disease and 3rd world countries with corn/cereal diets
- GI complaints, glossitis, watery diarrhea, and dermatitis in skin exposed areas (resembling sunburn)
31
Key PE findings of Fetal EtOH syndrome? (4)
- Smooth philtrum
- thin vermillion border
- small palpebral fissures
- microcephaly
32
Key PE findings in Down syndrome? (3 in face, 4 in body)
Face:
- flat facial profile
- slanted palpebral fissures
- small, low set ears
Body
- excessive skin at nape of the neck
- single transverse palmar crease
- clinodactyly
- large space between the first two toes
33
Key PE findings in Fragile x syndrome? (4 in face, 1 in body)
Face
- long narrow face
- prominent forehead and chin
- large ears
- macrocephaly
Body - macroorchidism
34
Acute treatment for sickle cell pt who presents with stroke like symptoms? why won't fibrinolytic therapy work?
- exchange transfusion
| - fibrinolytic therapy will not work bc the stroke in these patients is not caused by a true thrombus
35
Easy bruising, mucosal bleeding and epistaxis in a CF patients in most likely due to?
Vit K def
36
Vit K is a cofactor for....?
factors 2,7,9, 10
37
Pateints with CF are at risk for ____ deficiency due to _____.
fat soluble vit def (A, D, E, K) deficiency due to poor absorption from pancreatic insufficiency
38
polymorphous and maculopapular rash after taking amoxicillin in the presence of viral symptoms is indicative of?
Epstein-Barr Virus; this is not a true drug allergy
39
Pt presents with severe and recurrent sinopulmonary infections and
- decreased/absent B cells
- Decreased immunoglobulins
x-linked agammaglobulinemia
40
Pt presents with severe and recurrent sinopulmonary infections and
- normal B cells
- decreased immunoglobulins
common variable immunodeficiency
41
Pt presents with severe and recurrent sinopulmonary infections and
- normal B cells
- decreased IgA
IgA deficiency
42
Pt presents with severe and recurrent sinopulmonary infections and
- normal b cells
- low IgG and low IgA
- high IgM
hyper IgM syndrome
43
Pt presents with severe and recurrent sinopulmonary infections and
- normal B cells
- low IgG
IgG subclass deficiency
44
comorbidities of absence seizures
- ADHD
| - Anxiety
45
treatment of absence seizures
ethosuximide
46
Acute: "Barky" cough, inspiratory stridor, fever, rhinorrhea, congestion - dx?
Croup
47
Acute onset of inspiratory stridor and/or wheeze without infectious symptoms - dx?
foreign body aspiration
48
Chronic: inspiratory stridor most prominent in infants, stridor is worse when supine and improves when prone - dx?
laryngomalacia
49
Chronic: presents in infants, biphasic stridor that improves with neck extension - dx?
vascular ring = results from abnormal development of the aortic arch causing tracheal, bronchial, and or esophageal compression
50
After a diagnosis of guillain barre syndrome is made, the most important next step is to assess.....
the pt's pulmonary function by serial spirometry for forced vital capacity
51
Continuous ear drainage despite abx therapy, new onset hearing loss, granulation and skin debris with retraction pockets of TM - dx?
cholesteatomas
52
the presence of Hollow Jolly bodies indicates?
absence of spleen or hyposplenism
53
first line treatment for pinworm?
albendazole or pyrantel pamoate
54
name of pinworm?
enterobius vermicularis
55
most common organism responsible for osteomyelitis in infants and children?
staph aureus
56
frequent cause of osteomyelitis in pts with sickle cell?
#1 salmonella #2 Staph aureus
57
bilateral calf pseudohypertrophy, gowers sign (walking on toes, using hands to push on legs to stand) - dx?
duchenne muscular dystrophy
58
gold standard for diagnosing duchenne muscular dystrophy? inheritance pattern?
genetic testing looking for dystrophin gene deletion on Xp21 ; x inked recessive inheritance
59
3-4 month old with hypoglycemia (ppting seizures), lactic acidosis, hyperuricemia, hyperlipidemia, doll-like face, hepatomegaly (protruding abdomen) thin extremities. dx?
glucose-6-phosphate deficiency/type I glycogen storage disease/von Gierke disease = impaired conversion of glycogen to glucose leading to glycogen accumulation in liver, kidneys, and intestinal mucosa
60
soft click, leg-length discrepancy, or asymmetric inguinal skin folds are indicative of? work up?
- developmental hip dysplasia
- <6 mo = BL US imaging of hips
- > 4-6 mo hip xray
61
Steps for pt presenting with primary amenorrhea with uterus?
- FSH measurement if breasts are absent
- Pit MRI if FSH decreased (sella turcica tumor)
- Karyotyping if FSH increased
62
Developmental age? gross motor
| Lifts head/chest in prone position
2 months
63
Developmental age? gross motor
sits with trunk support
begins rolling
primitive reflexes (except for babinski) begin to disappear
4 mo
64
Developmental age? gross motor
| sits momentarily propped up on hands (unsupported by age?)
- 6 mo
| - unsupported by 7mo
65
Developmental age? gross motor
pulls to a stand
cruises
9 mo
66
Developmental age? gross motor
stands well
walks first steps independently
throws ball
12 mo
67
Developmental age? Fine motor
hands unfisted 50% of the time
tracks past midline
2 mo
68
Developmental age? Fine motor
hands open mostly
reaches midline
4 mo
69
Developmental age? Fine motor
transfers objects from hand to hand
raking grasp
6 mo
70
Developmental age? Fine motor
3 finger pincer grasp
holds bottle or cup
9 mo
71
Developmental age? Fine motor
| 2 finger pincer grasp
12 mo
72
Developmental age? Language
alerts to voice and sound
coos
2 mo
73
Developmental age? Language
laughs
turns to voice
4 mo
74
Developmental age? Language
responds to name
babbles
6 mo
75
Developmental age? Language
| says dada and mama
9 mo
76
Developmental age? Language
| says first words
12 mo
77
Developmental age? Social/Cognitive
social smile
recognises parents
2 mo
78
Developmental age? Social/Cognitive
| enjoys looking around
4 mo
79
Developmental age? Social/Cognitive
| stranger anxiety
6 mo
80
Developmental age? Social/Cognitive
waves bye
plays pat-a-cake
9 mo
81
Developmental age? Social/Cognitive
separation anxiety
comes when called
12 mo
82
Drug exposure?
| jitteriness, excessive sucking, hyperactive moro reflex
cocain
83
Drug exposure?
irritability, high pitched cry, poor sleeping, tremor, seizure, sweating, sneezing, tachypnea, poor feeding, vomiting, diarrhea
opiates
84
ddx? Young girl presenting with ovarian mass and precocious puberty (onset of secondary sex characteristics <8 yo)
granulosa cell tumor (malignant)
85
most common causes of acute bacterial rhinosinusitis
Strep pneumo and H flu
86
most common causes of impetigo?
staph aureus and strep pyogenes
87
conjunctivitis in a 2-5 day old?
gonococcal conjunctivitis
88
Conjunctivitis in 5-14 day old?
chlamydia trachomatis conjunctivitis
89
Conjunctivitis in first 24 hours of birth?
chemical conjunctivitis often seen in babies who are given prophylactic silver nitrate drops (not in US)
90
Machine like murmur?
PDA
91
Cataracts, PDA and sensorineural hearing loss is indicative of?
congenital rubella syndrome
92
infants with ______ initially appear normal at birth but gradually develop apathy, weakness, large tongue, hypotonia, sluggish movements, abdominal bloating and umbilical hernia
congenital hypothyroidism
93
_____ should be suspected in a newborn with cyanosis that is aggravated by feeding and relieved by crying.
choanal atresia
94
Pathophysiology of Rye syndrome?
microvesicular fatty infiltration and hepatic mitochondrial dysfunction
95
Lab findings in Reye syndrome?
increased transaminases, increased PT/INR/PTT, increased ammonia
96
_____ is the most common cause of isolated proteinuria in children and should be _________ which requires futher evaluation for underlying renal disease
TRANSIENT PROTEINURIA
is the most common cause of isolated proteinuria in children and should be
REEVALUATED WITH A REPEAT URINE DIPSTICK TEST ON TWO SEPARATE OCCASIONS TO RULE OUT PERSISTENT PROTEINURIA
which requires further evaluation for underlying renal disease
97
IUGR, microcephaly, VSD, closed fists with overlapping fingers, micrognathia, prominent occiput, rocker bottom feet?
Edwards syndrome (trisomy 18)
98
risk factors for iron deficient anemia in infants
- maternal iron deficiency
- prematurity
- introduction to cows milk before 12 mo
99
supplementation with _____ is recommended for exclusively breast fed infants born to strict vegetarian mothers
vit B12
100
pts with rheumatic hx of rheumatic fever with or without current symptoms should be placed on?
prophylactic PEN therapy
101
____ should be suspected in patients with pancytopenia following drug intake, exposure to toxins or viral infections. Bone marrow BX shows?
aplastic anemia
| -profound hypocellularity with a decrease in all cell lines
102
increased gastric residual volume, vomiting, and abdominal distension in a preterm neonate are highly suspicious for? Hallmark x-ray findings?
- necrotizing enterocolitis
| - pneumatosis intestinalis (intramural air) and portal venous air
103
Most common type of spinocerebellar ataxia?
Friedreich ataxia
104
Clinical manifestation of Friedreich ataxia? age?
- Neurologic (ataxia and dysarthria)
- skeletal (scoliosis, feet deformities)
- cardiac (concentric hypertrophic cardiomyopathy)
- symptoms begin before age 22
105
The most common cause of death in Friedreich ataxia ?
cardiomyopathy and respiratory complications
106
dx? pt with fever and diffuse rash the began on the face and spread to the body; this occurs after a viral prodrome of cough, conjunctivitis, and coryza.
treatment?
- measles (rubeola)
| - supportive and vit A
107
signs of pancreatic insufficiency in CF pts?
poor growth, deficiency of fat soluble vitamins
108
difference between CF and primary ciliary dyskinesia?
- both have nasal polys, recurrent sinopulmonary infections, and digital clubbing
- CF also have pancreatic insufficiency
109
child presents with follicular conjunctivitis, neovascularization (pannus) and nasal discharge: dx? treatment?
- Trachoma caused by chlamydia trachomatis and is the leading cause of blindness world wide
- dx made by corneal scrapings and giemsa stain
- tx tropical tetracycline or oral azithromycin
110
Long term neurologic sequelae associated with bacterial meningitis? 5
1. hearin loss
2. loss of cognitive function (due to neuronal loss in the dentate gyrus of the hippocampus)
3. seizures
4. mental retardation
5. spasticity or paresis
111
earliest life-threatening manifestation of CF?
meconium ileus (virtually diagnostic of CF)
112
Hirschsprung's Disease:
- Associated Disorder?
- Typical level of obstruction?
- Meconium consistency?
- "Squirt sign"?
- Associated Disorder = Down Syndrome
- Typical level of obstruction = Rectosigmoid
- Meconium consistency = normal
- "Squirt sign" = positive
113
Meconium Ileus:
- Associated Disorder?
- Typical level of obstruction?
- Meconium consistency?
- "Squirt sign"?
- Associated Disorder = CF
- Typical level of obstruction = Ileum
- Meconium consistency = inspissated (viscous)
- "Squirt sign" = negative
114
squirt sign?
forceful expulsion of stool after rectal exam
115
jaundice, decreased activity, poor feeding, and hoarse cry are typical symptoms of? most common cause
- congenital hypothyroidism
| - common cause = thyroid dysgenesis
116
cyanosis and respiratory distress during feeding that improves when the infant cries?
bilateral choanal atresia
117
What is kartagener syndrome? radiographic findings? associated with?
- triad of situs inversus, recurrent sinusitis, and bronchiectasis
- dextrocardia
- primary ciliary dyskinesia
118
Enzyme deficiency and symptoms?
- Decreased cortisol & aldosterone
- increased Testosterone
- increased 17-hydroxyprogesterone
- 21-hydroxylase deficiency
- ambiguous genitalia in girls
- salt wasting (vomiting, hypotension, decreased Na, increased K)
119
Enzyme deficiency and symptoms?
- Decreased cortisol & aldosterone
- increased Testosterone
- increased 11-deoxycorticosterone (weak mineralocorticoid) and 11-deoxy cortisol
- 11B-hydroxylase deficiency
- ambiguous genitalia in girls
- fluid and salt retention, hypertension
120
Enzyme deficiency and symptoms?
- Decreased cortisol & aldosterone
- increased Mineralocorticoids
- increased corticosterone (weak glucocorticoid)
- 17a-hydroxylase deficiency
- all pts phenotypically female
- fluid and salt retention, hypertension
121
- ambiguous genitalia in girls
| - salt wasting (vomiting, hypotension, decreased Na, increased K)
- 21-hydroxylase deficiency
122
- ambiguous genitalia in girls
| - fluid and salt retention, hypertension
- 11B-hydroxylase deficiency
123
- all pts phenotypically female
| - fluid and salt retention, hypertension
- 17a-hydroxylase deficiency
124
Vomiting within 1-6 hours after ingesting dairy items, meats, eggs, produce, and salads. organism?
Staph aureus
125
Rapid onset vomiting after ingesting starch products (rice). Organism?
Bacillus cereus
126
Fever, pharyngitis, strawberry tongue, Sandpaper like rash with circumoral pallor (area around mouth appears pale compared to surrounding red/rash on face)
scarlet fever (group A strep)
127
Seizures, mental retardation, and port wine stain along the pattern of the trigem nerve? radiographic findings?
- sturge-weber syndrome
| - intracranial calcifications that resemble a tramline
128
triad of brain abscesses?
- fever, severe HA (morning or nocturnal) and focal neurologic changes
- seizures are also common
129
New born - failure to thrive, bilateral cataracts, jaundice, and hypoglycemia
- galactosemia caused by galactose-1-phosphate uridyl transferase deficiency
- Classic presentation = vomiting, poor weight gain, jaundice, hepatomegaly, convulsions, and cataracts
130
Erythromycin ophthalmic ointment is applied to prevent ____ but is not effective in treating or preventing _____.
to prevent gonococcal conjunctivitis but does not treat/prevent chlamydia
131
Cause and tx? marked eyelid swelling, profuse purulent discharge, corneal edema/ulceration presenting 2-5 days of life
- gonococcal conjunctivitis
| - IV/IV ceftriaxone or cefotaxime
132
Cause and tx? eyelid swelling, chemosis, watery, bloody or mucopurulent discharge
- chlamydia
| - oral erythromycin
133
universal maternal prenatal testing and treatment _____ are recommended to prevent neonatal infection
chlamydia
134
recurrent sinopulmonary and GI infections after age 6 months along with absence of lymphoid tissue on PE (small tonsils, lymph nodes) is suggestive of?
x-linked agammaglobulinemia (decreased B cells and immunoglobulins) also called Bruton agammaglobulinemia
135
xray findings of codman triangle and sunburst/spiculation?
osteosarcoma
136
xray finding of onion skin?
ewing sarcoma
137
xray finding of sclerotic, cortical lesion with a central nidus od lucency? pain is relieved with NSAIDS
osteoid osteoma
138
______ should be suspected in any down syndrome pt who presents with upper motor neuron findings.
Atlantoaxial instability
139
dx? acute onset of dysphagia, drooling, and respiratory distress. patients may hyperextend the neck and maintain a tripod position to maximize airway diameter.
epiglottitis
140
_______ are calcified intracranial tumors that occur in the suprasellar region. Presenting symptoms include bitemporal hemianopsia and pituitary hormonal deficiencies (diabetes insipidus, GH def)
craniopharyngiomas
141
Dx and tx? young child presents with edema, proteinuria without hematuria, and hypoalbuminema.
Minimal change disease
| - tx = corticosteroids
142
________ usually presents in neonates with bilious vomiting and abdominal distension. Untreated it can progress to ______. ______ is the gold standard for diagnosis.
MALROTATION WITH MIDGUT VOLVULUS
usually presents in neonates with bilious vomiting and abdominal distension. Untreated it can progress to
BOWEL ISCHEMIA, BLOODY STOOLS AND PERFORATION;
UPPER GI SERIES
is the gold standard for diagnosis.
143
______ presents with delayed umbilical cord separation, recurrent skin and mucosal bacterial infections (without purulence - bx would be void of neutrophils) and severe periodontal disease. Marked peripheral blood _____ is common.
- Leukocyte adhesion deficiency
| - leukocytosis and neutrophilia
144
Tourette syndrome comorbid conditions?
ADHD and OCD
145
inactivated immunizations (2)
- polio
| - Hep A
146
Toxoid (inactivated toxin) immunizations (2)
- diphtheria
| - tetanus
147
Subunit/conjugate immunizations (7)
- Pertussis
- Hep B
- HIB
- Pneumococcal
- Meningococcal
- HPV
- Influenza (IM)
148
Live Attenuated Vaccines (6)
- Rotavirus
- measles
- mumps
- rubella
- varicella
- influenza (intranasal)
149
Distinct findings of congenital CMV?
- periventricular calcifications
150
Distinct findings of congenital Toxoplasmosis?
- diffuse intracerebral calcifications
| - severe chorioretinitis
151
Distinct findings of congenital Syphilis?
- rhinorrhea
- abnormal long bone radiograph
- desquamating or bullous raish (can involve palms and soles)
152
Distinct findings of congenital Rubella?
- cataracts
- heart defects (ex PDA)
- sensorineural hearing loss
153
Short stature, primary amenorrhea, and absent thelarche are suggestive of? Hormone levels? Other findings?
- Turner syndrome
- High LH/FSH, Low Progesterone and estrogen
- webbed neck, broad chest with wide spaced nipples
- ovarian dysgenesis
154
Diagnostic test for Phenylketonuria (PKU)?
- Quantitation amino acid analysis (increased phenylalanine levels)
- Newborn screening (tandem mass spectrometry)
155
DX? Tx?
- severe intellectual disability
- seizures
- musty body odor
- hypopigmentation of skin, hair, eyes and brain nuclei
- Phenylketonuria
| - Dietary restriction
156
vomiting, poor feeding and lethargy after starting fruits?
- aldolase B deficiency
157
Initial test for symptomatic child presenting with rapidly increasing head circumference?
- CT scan of brain
158
nephrotic disease associated with Hep B?
membranous nephropathy
159
treatment for severe combined immunodeficiency
- stem cell transplant
160
CD 19+ cells =
B cells
161
CD 3+ cells =
t cells
162
Histologic starry sky appearance, neoplasm of mature B cells, mass involving the mandible or abdominal viscera
Burkitt lymphoma (EBV)
163
Aure rods
AML
164
predominantly children; periodic acid Schiff positive (PAS positive); Immunostaining deoxynucleotidyl transferase (TdT) positive.
ALL acute lymphoblastic leukemia
| TdT is expressed only in pre B and pre T lymphoblasts
165
Dx? Deficiency? Tx?
| infant presents with cherry red macula, hepatosplenomegaly, hypo/areflexia, protuberant abdomen.
- Niemann-Pick Disease
- Sphingomyelinase Def
- supportive care; death around age 3 if severe
166
Dx? Deficiency?
| infant presents with cherry red macula and hyperreflexia
- Tay-Sachs disease
| - B-hexosaminidase A def
167
most common bacterial causes of otitis media
- H flu
- Moraxella catarrhalis
- strep pneumo
168
most common bacterial cause of otitis externa
- pseudomonas aeruginosa
169
Lab findings of hereditary spherocytosis (5)
- increased osmotic fragility on acidified glycerol lysis test
- abnormal eosin-5-maleimide binding test
- negative coombs test
- increased MCHC
- spherocytes on smear
170
tx for hereditary spherocytosis
Folic acid supplementation
blood transfusions
splenectomy
171
_______ is an x linked disorder due to a CGG trinucleotide repeat expansion and is the most common cause of inherited intellectual disability. In addition to speech and motor delays, findings include _____.
- Fragile x syndrome
| - prominent jaw, large ears, and macroorchidism
172
______ is a subperiosteal hemorrhage and presents a few hours after birth as scalp swelling limited to one cranial bone. TX?
- Cephalohematoma
| - most cases do not require tx and will spontaneously reabsorb within 2ks to 3 mo.
173
______ typically occurs in a child who has recently recovered from a diarrheal illness and has acute renal injury, thrombocytopenia, and mictoangiopathinc hemolytic anemia with schistocytes on smear
hemolytic uremic syndrome
174
Dx?
| pt presents with multiple recurrent fractures, blue sclera, hearing loss, joint laxity, short stature, and scoliosis.
osteogenesis imperfecta = inherited type I collagen defect
175
mutation of fibrillin 1 gene is found in?
marfan syndrome
176
Most common congenital heart defect associated with edwards syndrome (trisomy 18)
VSD
177
congenital heart defects associated with digeorge
transposition of great arteries and truncus arteriosus
178
HUS triad
- microangiopathic hemolytic anemia
- thrombocytopenia
- acute kidney injury
179
DiGeorge CATCH22?
- Conotruncal cardiac defects
- Abnormal facies
- Thymic aplasia/hypoplasia
- Cleft palate
- Hypocalcemia
- Chrom 22 deletions
180
child with macrocytic anemia, low reticulocyte count and congenital anomalies
Suspect Diamond-Blackfan Syndrome also called congenital hypoplastic anemia
181
x linked disorder characterized by eczema, thrombocytopenia and hypogammaglobulinemia
Wiskott-Aldrich Syndrome
182
Normal saline percent?
0.9% saline
183
Marfan syndrome vs homocystinuria?
- both have marfanoid body habitus
- MS - aortic root dilation
- H - intellectual disability, thrombosis, fair complexion,
184
Dx and test of choice? tx?
| inspiratory stridor that worsens when supine and gets better when prone
- laryngomalacia = floppy supraglottic structures that collapse during inspiration
- dx is usually clinical but can be confirmed with flexible laryngoscopy
- spontaneous resolution by 18 mo
185
Define polycythemia of neonate?
- hematocrit >65%
- risk factors include delayed cord clamping, maternal htn, maternal DM.
- Symptomatic neonates generally have a combination of resp distress, hypoglycemia, and neurologic manifestations
186
Complications of mumps
- parotitis
- orchitis
- aseptic meningitis
187
Tx for abnormal uterine bleeding
- high dose estrogen therapy (first line) OR
- high dose progesterone therapy OR
- high does E/P combined therapy OR
- tranexamic acid
188
triad of microthrombocytopenia (small and low platelets), eczema, and recurrent infections. dx? tx?
- Wiskott-Aldrich Syndrome = gene defect that is responsible for cytoskeleton
- hematopoietic stem cell transplant
189
pt with limited upward gaze, upper eyelid retraction, and pupils not reactive light but reactive to accommodation
pineal gland tumor (parinaud syndrome)
190
Tx for venous lead levels 46-69 ug/dL
dimercaptosuccinic acid (DMSA, succimer)
191
tx for venous lead levels 70 ug/dl or greater?
dimercaprol (british anti-lewisite) plus calcium disodium edetate (EDTA)
192
tx for venous lead levels under 45 ug/dL?
no chelation therapy; correct exposure
193
precocious puberty, cafe au lait spots and multiple bone defects
dx?
McCune Albright syndrome
194
3 P's of McCune Albright syndrome
- Precocious Puberty
- Pigmentation
- polyostotic fibrous dysplasia (bone defects)
195
Crepitus over clavicle, asymmetric moro reflex, pain with passive motion of extremity.
dx? tx?
- dx - neonatal displaced clavicular fractures
- tx = reassurance, gentle handling, analgesics, place affected arm in long sleeved garment and oin sleeve to chest with elbow flexed an 90 deg
196
iron def anemia can be differentiated from thalassemia by an ____
elevated red cell distribution width (RDW) which is typically >20% in Fe def anemia
197
what are howell - jolly bodies? what do they indicate?
- nuclear remnants of RBCs
| - indicate functional asplenia (sickle cell) or lack of spleen
198
basophillic stippling is seen with
thalassemias and heavy metal poisoning
199
heinz bodies and bite cells are seen in
G6PD def and thalassemia
200
helmet cells or schistocytes indicate
DIC, traumatic microangiopathic hemolytic conditions, hemolytic uremic syndrome, thrombotic thrombocytopenic
201
the most common cause of vaginal bleeding and discharge in the neonatal period is ?
maternal withdrawal of estrogen
202
mechanism of action in osgood schlatters disease
traction apophysitis
203
______ presents with metabolic acidosis, polyuria, dehydration, decreased level of consciousness, and diffuse abdominal pain.
Diabetic ketoacidosis
204
Diabetic ketoacidosis is characterized by
osmotic diuresis that reduces total K body stores even tho the serum K levels may be elevated
205
2 year old with painless hematochezia (bright blood in stool)
dx? cause? diagnosis? tx?
- Meckel's diverticulum
- incomplete obliteration of the vitelline (omphalomesenteric duct)
- technetium-99m pertechnetate scan
- surgical resection
206
seizure type provoked by hyperventilation
absence seizures
207
pt with enterocolitis, diarrhea, lethargy, pallor, bruising, petechiae, and edema?
HUS
208
______ should be suspected in a child that develops isolated thrombocytopenia and petechiae after a viral infection. Children usually _______ regardless of platelet count. Children with bleeding should receive ______.
- Immune thrombocytopenia
- recover spontaneously within 6 mo and only require observation
- IV immunoglobulin or glucocorticoids
209
Important risk factors for respiratory distress (immature lungs dt decreased surfactant production)
prematurity and maternal DM
| hyperglycemia in infant --> hyperinsulinemia --> blocks cortisol --> decreased sphingomyelin production
210
PE of medulloblastoma
- HA
- signs of obstructive hydrocephalus
- increased intracranial pressure
- gait ataxia
211
Self mutilation with neurologic/dystonia features, gouty arthritis, and tophus formation. Dx? Cause?
- Lesch-Nyhan
- hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency
- suspect this if you see a young boy with gout
212
tx for lyme disease?
- doxycycline in individuals >8 and non pregnant women
| - amoxicillin or cefuroxime in children <8 and pregnant women
213
Bluish white lesions on the buccal mucosa are called _____ are pathognomonic for?
Koplik spots.....Measles
214
pts with HSP are at increased risk for?
ileo-ileal intussusception
