Pediatrics Boards Flashcards
1
Q
What tests should be ordered for a child with intellectual delay of unknown etiology?
A
- Fragile X testing
2. Microarray
2
Q
You are examining a patient’s skin lesions which are scaly and bleed where the scale is picked off. What is this sign called and what etiology does it indicate?
A
Auspitz sign
Psoriasis
3
Q
What is the treatment of a hemangioma? What hemangiomas warrant treatment?
A
Oral propranolol for 6 months.
Risk of complications from certain hemangiomas: eyelid hemangioma that can obscure vision or tracheal hemangioma which can cut off the airway
4
Q
What cardiac lesion is associated with tuberous sclerosis?
A
Cardiac rhabdomyoma
5
Q
What is the cause of Phenylketonuria and what is the treatment?
A
Accumulation of phenylalanine due to decreased phenylalanine hydroxylase activity.
Treatment:
Initiate low-protein diet with a phenylalanine-free medical formula as soon as possible after birth
Avoid the artificial sweetener aspartame, as it contains phenylalanine
6
Q
Marfan syndrome genetic defect
A
FBN1 mutation
7
Q
Most common cause of death in Marfan syndrome?
What are other characteristics commonly seen in Marfans?
A
Aortic root dilation –> dissection
Tall stature, joint hypermobility, skin hyper-elasticity, arachnodactyly (long fingers), pectus excavatum or carinatum, scoliosis/kyphosis, upward lens dislocation
8
Q
Fragile X syndrome mutation
A
Trinucleotide repeat disorder – X linked defect causing hypermethylation and inactivation of the FMR1 gene
9
Q
A patient with Down Syndrome (T21) presents to clinic with dizziness, fatigue, and behavioral changes. On exam you note increased tone and hyperreflexia only in the lower extremities. What do you suspect?
A
Atlantoaxial instability – seen in 10-15% of patients with T21
10
Q
What is stickler syndrome?
A
Pierre Robin sequence + severe myopia or other ocular abnormalities
Also have sensorineural hearing loss
11
Q
A patient with dysmorphic features has been pulling out his finger and toenails. What syndrome is this concerning for?
A
Smith Magenis
- Intellectual disability
- Physical: frontal prominence, hoarse/deep voice, coarse facial features
- Unusual behaviors: self-hugging, pulling out fingernails and toenails, insertion of foreign objects into their body
12
Q
Deceleration of head growth is concerning for what syndrome?
A
Rett Syndrome
Normal development in infancy slowed development regression at age 1-4
- Loss of motor and language skills and the development of stereotypic hand movement (hand wringing/clapping).
- Epilepsy, breathing disturbances, autistic features, sleep disturbances
13
Q
Differentiate between Duchenne and Becker muscular dystrophy
A
Both are X linked recessive (most in boys)
Duchenne is more severe (deletion of dystrophin gene) – early onset at age 2-3, death by age 20-30 from respiratory or heart failure (develop cardiomyopahty)
14
Q
Treatment of anaphylaxis
First line and second line
A
1st: Epinephrine in a 1:1000 dilution (0.01 mg/kg in children; maximum, 0.3 mg) intramuscularly
2nd: Benadryl, ranitidine, albuterol
15
Q
Stages of puberty
A
F: Boobs, Pubes, Grow, Flow
o Thelarche, pubarche, peak height velocity, menarche
M: Testicular enlargement, pubarche, peak height velocity, spermarche
16
Q
Electrolyte abnormalities in adrenal insufficiency
A
Hyponatremia
Hyperkalemia
Hypoglycemia
17
Q
First line treatment of hyperthyroidism in pediatrics
A
Methimazole
Bc propylthiouracil has risk of hepatic toxicity
18
Q
Diagnosis of cyclic vomiting syndrome and first line treatment in kids younger than 5
A
2 or more episodes in a 6 month period
Episodes are stereotypical to each patient: intense, unremitting nausea and paroxysmal vomiting that lasts for hours to days
Episodes are separated by weeks to months with return to baseline health in between episodes
Treatment: cyproheptadine
19
Q
Treatment of milk protein allergy
A
Suspect when a well-appearing neonate has painless bloody stools (age of onset ~2 months)
- Elimination of milk and soy from maternal diet of breast fed infants
- Initiation of hydrolyzed formula (amino acid based) in formula fed infants
20
Q
Most common age of intussusception
A
Typically occurs between 6-36 months of age
Very rare to occur in <3 months
21
Q
Four main features of nephrotic syndrome
A
- Proteinuria (Protein:Creatinine ratio of >2)
- Hypoalbuminemia
- Edema (periorbital, abdominal, scrotum/vulva, hands/feet)
- Hyperlipidemia
22
Q
What is the most common cause of nephrotic syndrome in pediatrics?
A
Minimal change disease
- No need for biopsy
- Treat with steroids
23
Q
Most common cause of epididymitis in prepubertal boys
A
most commonly due to a postviral infectious phenomenon (entero, adeno, mycoplasma)
24
Q
A patient with a history of hereditary spherocytosis presents with RUQ pain. What do you need to be concerned about?
A
Pigment gallstones
made by hemolysis of the RBCs
25
Triad of hemolytic uremic syndrome
1. Normocytic/hemolytic anemia
2. Thrombocytopenia
3. Acute renal insufficiency/Increased BUN (uremia)
26
What is the most common inherited coagulation disorder? What part of the coagulation cascade is affected?
Von Willbrand's
Intrinsic pathway (prolonged PTT) due to effects on F8
27
Typical clinical features of measles
Cough, coryza, conjunctivitis, and koplick spots
| Rash: Maculopapular exanthem (spreads from head downward) that spares palms and soles
28
What vitamin is important in reducing morbidity of measles infection?
- Acute measles infection depletes vitamin A stores, resulting in a risk of keratitis and corneal ulceration
Vitamin A supplementation can prevent and treat ocular complications and also reduces the risk of other comorbidities (pneumonia, encephalitis, recovery time, and length of hospital stay)
29
What is the intracranial abnormality associated with measles?
Subacute sclerosing panencephalitis
Persistent infection of the brain by measles virus that destroys grey and white matter – seen many years after initial infection.
30
Failure to pass meconium within what window of time is concerning? What do you need to consider at that time?
Within 48 hours of life
| Need to consider Hirschsprung's disease on the differential
31
Patient with recurrent sinopulmonary infections and on exam has very small tonsils. What do you supect?
X linked agammaglobulinemia (Bruton disease)
- Complete defect in B cell production with no antibody production
Clinical presentation
- Generally see symptoms start at around 6 months, when maternal antibodies begin to wane
- Recurrent sinopulmonary and GI infections with encapsulated bacteria
- Absence of lymphoid tissue on exam (tonsils, lymph nodes)
32
A child presents after an early morning seizure characterized by unilateral face twitching and arm shaking. The patient could not speak during the episode and was drooling. What do you suspect and what is the treatment?
Benign Rolandic Epilepsy (aka childhood epilepsy with centrotemporal spikes)
EEG shows perirolandic (centrotemporal) spikes: either unilateral or bilateral
AEDs are generally not needed (resolves in adolescence)
33
Antibiotics for retropharyngeal abscess
Cover aerobes and anaerobes
Unasyn or Clindamycin
34
An overgrowth disorder characterized by a predisposition to neoplasms.
Beckwith-Wiedemann Syndrome
macrosomia, macroglossia, hemihyperplasia (ex. Right upper and lower extremities are larger than left), and medial abdominal wall defects (umbilical hernia, omphalocele)
predisposed to Wilms tumor, hepatoblastoma
35
Causes of macrocytic anemia
Vitamin B12 deficiency
Folate deficiency
Fanconi anemia
Diamond Blackfan anemia
36
Pernicious anemia
Auto antibodies against parietal cells causes decreased intrinsic factor and impaired absorption of vitamin B12
Seen in autoimmune diseases or with gastrectomy
37
What is the most common cause of inherited aplastic anemia? What are some common findings with this?
Fanconi anemia:
defective DNA repair that results in inc chromosomal breakage, rearrangements, and deletions which causes bone marrow failure
Patients have short stature, inc incidence of tumors/leukemia, café au lait spots and thumb/radial defects
38
3 month old presenting with pallor and poor feeding. Has a cleft lip and web neck. CBC shows macrocytic anemia. What are you concerned for?
Diamond Blackfan Anemia: Congenital pure red cell aplasia
```
25% of patient have associated congenital abnormalities
Short stature
Web neck
Cleft lip
Shield chest
Triphalangeal thumb
```
39
Vitamin B12 deficiency leads to what neurologic syndrome? Why?
Subacute Combined Degeneration:
Ataxia, weakness, paresthesia, impaired position and vibration sense.
Demyelination of (SCD)
S: Spinocerebellar tracts
C: lateral Corticospinal tracts
D: Dorsal columns
*B12 is involved in myelin synthesis
Whippets (inhalants) cause a similar picture by inactivating vitamin B12
40
Alagille Syndrome
Autosomal Dominant
Liver: bile duct abnormalities
Cardiac: pulmonary stenosis
Characteristc facies: hypertelorism
41
Diabetic Ketoacidosis criteria
hyperglycemia (>200 mg/dL)
acidosis (pH <7.3 or bicarb <15) with elevated anion gap
Ketonemia/ketonuria (urine ketones or elevated beta hydroxybutyrate)
42
How long are ear tubes supposed to last?
12-18 months. If they fail to self-extrude after 3 years, need to be surgically removed by ENT because it could lead to chronic TM perforation
43
Post strep glomerulonephritis: labs
Low C3, normal C4
44
What are risk factors associated with IVH?
Prematurity
Pneumothorax
Male sex
Bolus administration
45
Cause of Wilson disease and symptoms.
Lab tests
Copper accumulation in the liver, brain and eyes
Liver dysfunction
Neuropsychiatric symptoms
Kayser-Fleischer rings
Labs: low serum ceruloplasmin, inc urinary copper excretion
46
Features of DiGeorge Syndrome
CATCH 22
Cardiac (interrupted aortic arch, tetralogy of fallot, truncus arteriosus)
Abnormal facies (low set ears, micrognathia)
Thymic Aplasia
Cleft palate
Hypocalcemia (parathyroid hypoplasia)
Chromosome 22q1 deletion
47
Why do kids with digeorge syndrome have hypocalcemia
Parathyroid Hypoplasia
48
Children with galactosemia are at increased risk of what?
E coli sepsis
49
What causes neonatal polycythemia in an infant of a diabetic mother?
Polycythemia: due to increased fetal O2 requirement and increased metabolic demand
• Fetal hypoxemia --> inc erythropoiesis
• Can lead to hyperviscosity syndrome with resultant venous thrombosis
• At risk for hyperbilirubinemia
50
What causes respiratory distress syndrome in an infant of a diabetic mother
Hyperinsulinemia has an antagonistic effect on surfactant production
51
If you suspect muscular dystrophy, what lab test should you get?
CK (will be elevated)
*Gold standard is genetic testing
52
Simple vs Complex febrile seizures
Simple febrile seizure
Generalized clinical features
Less than 15 minutes
Single seizure in 24 hour period
Complex febrile seizure
Focal clinical manifestation
Longer than 15 minutes
More than one in a 24 hour period
53
Conjunctivitis in newborns
```
Early onset (2-5 days) = gonorrhea
Treat with IV or IM ceftriaxone
```
```
Late onset (5-14 days) = chlamydia
Tx with oral erythromycin
```
54
Shwachman-Diamond syndrome
o Pancreatic exocrine insufficiency (with steatorrhea) with some degree of pancytopenia
o Usually present with short stature, skeletal abnormalities, diarrhea/steatorrhea, and recurrent infections, usually upper respiratory tract and skin
Differentiate from cystic fibrosis: Schwachman-Diamond syndrome has decreased cell lines (neutropenia, anemia, thrombocytopenia, normal electrolytes, normal sweat test
55
What is always seen in Guillain Barre Syndrome?
Arreflexia
56
What is seen in an LP for Guillain Bare
High protein with normal WBC count
| albuminocytologic dissociation
57
What should you measure in GBS to monitor breathing?
Vital capacity
or
Negative inspiratory force (NIF)
58
Inheritance of G6PD
X-linked
| glucose si"X" phosphate
59
An acute flare of G6PD leads to what?
Hemolysis! In response to a trigger that causes oxidative stress and hemolysis
60
Urine sodium in SIADH
High >40
61
What medication can be used to treat SIADH? When is it used?
If not responsive to fluid restriction, can treat with Demeclocycline (ADH antagonist)
• Only indicated for children older than 8: because it is a derivative of Doxycyline
62
What labs are typically negative in sJIA?
ANA and RF
63
Definition of polycythemia. When do you treat?
Central venous hct > 65%
Treat with partial exchange transfusion
If >65% and symptomatic
If >70% regardless of symptoms
64
CHARGE syndrome
```
o C: Coloboma
o H: heart defects
o A: atresia/stenosis (choanal)
o R: retarded growth and development
o G: Genitourinary abnormalities
o E: Ear anomalies (hearing loss)
```
65
What genetic condition is a complete contraindication to breast feeding?
Galactosemia
Treatment is a galactose-free diet (soy formula)
66
What genetic condition places infants at risk for E coli sepsis?
Galactosemia
67
At what age is strabismus pathologic?
After 4 months of age
Warrants referral to ophthalmologist
Untreated strabismus may result in amblyopia (loss of visual acuity due to active cortical suppression of the vision of one eye)
68
What's the problem in Hemophilia? What lab test is abnormal?
Factor 8 deficiency -- prolonged aPTT
69
If a baby presents with E coli sepsis, what metabolic disease should you think of?
Classic galactosemia
70
What should you consider in every female with short stature?
Turner Syndrome
71
When should hearing loss be identified in infants?
o 1/3/6 Rule!!
Universal screening by 1 month
Confirm hearing loss by 3 months
Receive early intervention by 6 months
72
Undescended testis management
Most descend in the 1st 3 months of life
If the testis does not descend by 6 months of life, it is unlikely to descend spontaneously
73
If middle ear wounds are contaminated in the setting of trauma, then what is indicated?
Tetanus ppx
74
Which neck mass consistently transilluminates? What is this lesion associated with?
Cystic hygroma (Lymphangioma)
- Noonan
- Turner
- Down
75
• Jervelle-Lange Nielsen Syndrome
Long QT and congenital hearing loss
76
What GI bug is associated with eating pork intestines? (Chitlins)
Yersenia enterolytica
| - Can lead to bacteremia
77
What electrolyte abnormality with dehydration are children with CF predisposed to?
Hyponatremic
Hypochloremic
Hypokalemia
78
In evaluating for PCOS, what is the most important lab to order?
Free and total testosterone
79
Treatment of hyperthyroidism
Methimazole
80
Inheritance of Adrenal Insensitivity Syndrome
X linked
| Genetically XY however there is androgen receptor resistance
81
Congenital Adrenal Hyperplasia
21-hydroxylase deficiency, leading to increased levels of 17-hydroxyprogesterone and testosterone (Virilization)
Decreased production of aldosterone and cortisol
82
Adrenal Insufficiency Labs
Low Na
High K
Low glucose
83
Classic feature in Cushing's syndrome
Growth arrest!
And delayed bone age
84
Infant with big tongue, umbilical hernia, and low blood sugar
Beckwith Wiedeman
85
Parathyroid hormone effects
Raises calcium
| Decreases phosphorus
86
What genetic condition is associated with hypercalcemia?
Williams syndrome
87
What electrolyte can lead to hypocalcemia?
o Hypomagnesemia can cause hypocalcemia by inducing resistance to PTH and by decreased PTH secretion
88
What genetic condition is associated with hypocalcemia?
Di George syndrome (lack of parathyroids)
89
High calcium
| Low phos
Hyperparathyroidism
90
Low Ca
| High phos
Hypoparathyroidism
91
Low Ca
| Low Phos
Vitamin D deficiency
92
What lab is elevated in ALL forms of rickets/vitamin D deficiency?
Alkaline phosphatase levels
93
What type of rickets is the only one where a 25-hydroxy vitamin D level is low?
Vitamin D deficiency
94
Growth velocity rule of 24
year x GV = 24
ex. 1st year is 24 cm/year
2nd year is 12 cm/y
3rd year is 8 cm/y
95
Child who is underweight and underheight, with a normal bone age
```
Nutritional deficiency
(think about Crohn's disease)
```
96
When is puberty considered delayed?
Boys: age 14
Girls: age 13
97
when is puberty considered precocious?
Boys: before age 9
Girls: before age 8
98
Precocious puberty should make you think of what syndrome?
McCune Albright Syndrome
Unilateral café au lait spots with jagged borders
Precocious puberty
Polyostotic fibrous dysplasia, (multiple osteolytic appearing lesions of the hip and pelvis)
99
Why do we care about precocious puberty?
Because the only significant consequence is short adult height
(and consider psychosocial implications)
100
Midfacial anomalies indicate a high risk of what endocrine abnormality
GH deficiency
101
Micropenis indicates what endocrine abnormality?
GH deficiency
102
Triad of GH deficiency
Micropenis
Hypoglycemia
Short stature
103
What is the most common cause of congenital hypothyroidism?
Sporadic due to thyroid dysgenesis
104
16 year old with
- T1DM
- Autoimmune thyroiditis
- Adrenal cortical insufficiency
Autoimmune polyglandular syndrome
105
Immobilization leads to what electrolyte abnormality?
Hypercalcemia! Because it results in stimulation of bone resorption
106
CAH: differentiate between 21-hydoxylase deficiency and 11B hydoxylase deficiency
21-hydoxylase deficiency: salt wasting + virilization (most common presentation)
11B hydoxylase: virilization, no salt wasting, HTN
107
What syndrome should be on your differential for neonatal hypotonia?
Prader Willi
108
What lab to order to evaluate for primary amenorrhea/
FSH
If low: indicates a central cause (pituitary?)
If high: indicates a peripheral cause (karyotype -- Turners?)
109
Key feature of bulimia
Binging!
110
What causes dysmenorrhea?
Prostaglandin production: vasoconstriction and muscle contraction (which is why we treat with NSAIDs -- prostaglandin inhibitors)
111
Treatment of gonorrhea infection
Ceftriaxone PLUS azithromycin or Doxy (to also cover chlamydia)
112
Treatment of syphillis
Standard-
If allergic to standard therapy -
Penicillin
If allergic -- treat with doxycycline
(If pregnant and allergic, then cannot do doxy. They must undergo desensitization and treatment with PCN)
113
What should you consider in an adolescent with RUQ abdominal pain and vaginal discharge?
Fitz Hugh Curtis syndrome (perihepatitis due to N gonorrhoeae or Chlamydia)
114
Pelvic Inflammatory Disease
- Standard tx
- If allergic
Standard: CTX x1 and Doxy (14 d)
Allergic: Clinda and gent
115
Rheumatic fever is a sequela of what
Recent group A strep pharyngitis infection
| NOT A SEQUELAE OF IMPETIGO
116
Treatment of acute rheumatic fever
Penicillin: to treat the strep
ASA: as an anti-inflammatory med
117
Why do we treat strep throat?
To prevent rheumatic fever (will not prevent PSGN)
118
Glomerulonephritis WITH a pharyngitis vs Glomerulonephritis AFTER a pharyngitis
Glomerulonephritis WITH a pharyngitis: IgA nephropathy
| Glomerulonephritis AFTER a pharyngitis: PSGN
119
A patient with cafe au lait spots and HTN -- what are you worried about?
Neurofibromatosis type 1 with a pheochromocytoma
120
Corneal clouding and coarse facies
Hurler syndrome
121
Overlapping fingers
Edward Syndrome (Trisomy 18)
122
Cutis aplasia
Trisomy 13
123
Cardiac finding in Williams
Supravalvular aortic stenosis
124
Cardiac finding in Noonans
Pulmonic stenosis
125
Cardiac finding in Turner syndrome
Left sided: coarctation of the aorta, bicuspid aortic valve
126
WAGR
Wilms tumor
Aniridia
Genitourinary malformation (hypospadias, cryptorchidism)
Reduced intellectual abilities
127
DiGeorge Syndrome
CATCH 22
o Cardiac defects (interrupted aortic arch, tetralogy of fallot, VSD, truncus arteriosus)
o Abnormal facies (low set ears, micrognathia)
o Thymic aplasia (cellular immune deficiency)
o Cleft palate
o Hypocalcemia (secondary to parathyroid hypoplasia)
o Chromosome 22q11 microdeletion
128
Infant with hyperammonemia without acidosis or ketosis
Urea cycle defect (ie OTC deficiency)
129
Infant with hyperammonemia with acidosis (+/- cytopenias due to bone marrow suppression from metabolic acidosis)
Organic acidemia
(typically presents as a septic appearing infant with sepsis ruled out) -- order an ammonia level!
130
Hypoglycemia, hyperlipidemia, and lactic acidosis with hepatosplenomegaly
Glycogen storage disease Type 1
131
Infant with hypoketotic hypoglycemia during an acute viral gastroenteritis. Otherwise has been fine.
Fatty acid oxidation defect
132
Cataracts is seen in which inborn error of metabolism?
Galactosemia (reversible with diet change)
133
Infant with easy startle and cherry red spot on the retina
Tay Sachs
134
Cherry red macular with hepatosplenomegaly
Niemann Pick Disease
135
Difference between Hunter and Hurler syndrome
Hurler: Corneal clouding
Hunter: X linked
Hunter and Hurler are associated with Hepatosplenomegaly and Hearing deficits
136
Mild form of osteogenesis and severe form
Mild: Type 1
Severe: Type 2
137
Cataract and tinnitus?
NF2
| Schwannoma and cataracts
138
Hemangioblastomas
von Hippel Lindau
139
Infant presents with hypoplastic thumb and radius and pancytopenia with macrocytic anemia
Fanconi Anemia
140
Green amniotic fluid -- think....
Listeria infection
141
Infant with chorioretinitis, intracranial calcifications, and hydrocephalus
Congenital toxo
142
Measles post exposure management
Use of MMR vaccine following exposure within 3 days (3 letters in MMR)
Immune globulin
• For select populations: pregnant women, infants younger than 6 months, and immunocompromised patients
• Administer within 6 days of exposure
143
3 most common causes of bacterial meningitis in neonates
GBS, E coli, listeria
144
Child with bloody diarrhea and convulsions
Shigella
145
Triad of HUS
• Hemolytic anemia
• Uremia (elevated BUN)/Acute Renal Insufficiency
• Thrombocytopenia
After a diarrheal illness
146
all babies receive erythromycin drops for prevention of what infection
Gonorrhea (not chlamydia)
147
What time frame determines which newborns should be given varicella immunoglobulin?
High fatality rate if infection occurs between 5 days before an 2 days following delivery
• Varicella: V = 5 days before
• 2 L’s = 2 days after
148
Age of presentation in TEC vs Diamond Blackfan
```
TEC = Toddlers
DBA = Babies
```
149
Type of anemia in TEC
Normocytic, low reticulocyte
| Seen in toddlers who are otherwise healthy and may have an antecedent infection
150
What is one of the first symptoms in a child with sickle cell disease?
Dactylitis
151
Management of hyphema
Eye shield
152
Inheritance of chronic granulomatous disease
X linked
153
delayed separation of umbilical cord should make you think of what? How would you diagnose it?
Leukocyte Adhesion Deficiency
Dx via flow cytometry
154
Immunodeficiency with partial albinism
Chediak-Higashi Syndrome
155
Child with no response to vaccines and absent lymphoid tissue....
X linked agammaglobulinemia (Bruton's disease)
156
Child with severely decreased immunoglobulins of all classes
X linked agammaglobulinemia (Bruton's disease) (no B cells --> no Igs)
157
How can you differentiate between X linked agammaglobulinemia and Common Variable Immunodeficiency
Both have decreased immunodeficiencies
X linked agamma has NO B CELLS
CVID has NORMAL B CELL COUNT
158
Triad of eczema, thrombocytopenia, and cellular immunodeficiency
Wiskott Aldrich Syndrome
WAS
• WBC problems
• Atopy (eczema)
• Small and few platelets
159
Male infant with eczema, recurrent sinopulmonary infections, and unusual bleeding
Wiskott Aldrich Syndrome
WAS
• WBC problems
• Atopy (eczema)
• Small and few platelets
160
Immunodeficiency with giant granules in neutrophils
Chediak Higashi
161
Which vaccines should be avoided in patients with SCID?
Live vaccines
162
Elevated alpha fetoprotein is characteristic of what immunodeficiency?
Ataxia Telangiectasia
IgA deficiency
163
Kids with oligoarticular JIA are at risk for development of what?
Uveitis
164
Wegener Granulomatosis aka Granulomatosis with polyangiitis affected which two systems?
“Pulmonary-Renal syndrome”
| c-ANCA
165
c-ANCA
Wegener Granulomatosis aka Granulomatosis with polyangiitis
166
Heinz bodies
G6PD deficiency
167
Pigmented penile lesions and hamatomatous intestinal polyps
Bannayan-Riley-Ruvalcaba Syndrome
168
Most common form of tracheo-esophageal fistula
Esophageal atresia with distal tracheoesophageal fistula is most common
169
Granulomas on biopsy: UC vs Crohns
Crohns
170
How does distribution change between UC and Crohns
UC: "Unanimously colon" -- continuous lesions, always involves rectum
Crohns: skip lesions, from mouth to anus (can have aphthous ulcers)
171
Infant with rectal prolapse should make you think of what?
Cystic fibrosis
| Shigella (if hx of infectious diarrhea)
172
Large facial hemangioma warrants work up of what syndrome?
PHACES
P: Posterior fossa abnormalities (Dady-Walker)
H: Hemangioma (generally large cervicofacial lesions)
A: Arterial anomalies (typically intracerebral)
C: Cardiac defects (coarct of the aorta)
E: Eye abnormalities (micopthalmia)
S: Sternal defects
173
Treatment of ichthyosis
Keratolytic agents like ammonium lactate creams, AHA, and urea containing emollients
174
Patterned blistering that follows the lines of Blaschko (the routes of embryonic cell migration)
Delayed eruption of teeth with peg or cone shaped teeth (often missing teeth)
Incontinentia pigmenti
o X linked dominant
o Lethal in males
175
Post strep glomerulonephritis is a sequela of what?
Strep pharyngitis and impetigo
176
Rheumatic fever is a sequela of what?
Strep pharyngitis
177
Treatment of methanol poisoning
IV Fomepizole
178
At what age do you start checking BP?
3 year old
179
What are major factors in the development and persistence of asthma?
Obesity and vitamin D deficiency
180
Rabies post exposure ppx
Rabies immune globulin and rabies vaccine immediately
181
Ethylene Glycol vs Methanol
Both ingestions cause high anion gap metabolic acidosis
EG: renal failure with calcium oxalate crystals
Methanol: visual disturbances
182
What mass can cause Horner syndrome? What labs would you get?
Neuroblastoma
| Homovanillic acid and vanillymandelic acid
183
Treatment of CMV
Asymptomatic: no treatment
Symptomatic: 6 months of oral valganciclovir
184
Orbital cellulitis often arises from where?
Ethmoid sinus
185
Features of constitutional growth delay?
Decreased growth rate in early teen years
Delayed onset of puberty
Bone age below chronological age
186
Delay in puberty
Puberty is considered delayed in boys when there is a lack of testicular growth = 4 mL in volume (or 2.5 cm in length) by age 14 years. In girls, puberty is delayed when there is a lack of breast development by age 13 years.
187
Bone pain that improves with NSAIDs
Osteoid osteoma
188
Types of bone cysts
```
o Unicameral (simple bone cysts)
Fluid filled
Noncancerous, typically solitart
Often resolve spontaneously
Restrict activity to prevent fracture
```
o Aneurysmal
Blood filled
Can be more aggressive in growth
Require surgical excision
189
Scoliosis management and degrees
<20: no restrictions
25-40: bracing to prevent or minimize curve progression
>45: surgery
190
Infant with acute respiratory distress in the setting of meconium stained amniotic fluid and on exam with a displaced point of maximal cardiac impulse
Pneumothorax!
Due to meconium aspiration
191
SGA and LGA
SGA <10%tile
| LGA >90%tile
192
Single umbilical artery should make you think of what?
Trisomy 18
193
Newborn with cyanosis that is aggravated by feeding and relieved by crying
choanal atresia
| pass tube into nasal passages and confirm with CT scan
194
Treatment of corneal abrasions
topical antibiotics
195
What should a baby with T21 have done before leaving the WBN?
Echo!
196
Calculating anion gap
Na - (Cl+HCO3)
197
What additional vaccine should all children with nephrotic disease receive?
PPSV23 (pneumococcal vaccine)
198
What other organ system is involved in ARPKD?
Liver
| Universally have hepatic fibrosis
199
IgA nephropathy vs PSGN
IgA: sore throat at the same time as hematuria
PSGN: 1-2 weeks AFTER pharyngitis
200
Low FeNa (<1)
Prerenal renal failure
201
High FeNa (>1)
Instrinsic renal failure
202
Friedrich ataxia
```
AR
Ataxia
Loss of DTRs
Diabetes Mellitus
Hypertrophic cardiomyopathy
```
203
Reversal of dystonic reaction
Benadryl (diphenhydramine)
204
Infant with tongue fasiculations
SMA
205
Rapid onset of Muscle flaccidity and hyporeflexia followed by spasticity and hyperreflexia
Transverse myelitis (usually following a URI)
206
Mother delivering with active herpes infection
Vaginal or C/S delivery
Mother with herpes lesions (vaginal or C/S delivery): perform a diagnostic eval and start empiric IV acyclovir at 24 hours of age (or sooner if baby becomes symptomatic!)
207
Ketones and glucose in fatty acid oxidation disorder
Hypoketotic hypoglycemia
208
Macrosomia, macroglossia, and omphalocele
Beckwith Wiedemann
209
When renal tubular defect causes HTN? What other features will you see?
```
Liddle Syndrome (ENaC gain of function)
HTN
Hypernatremia
Hypokalemua
Metabolic alkalosis
```
210
Labs in renal tubular acidosis
Normal anion gap metabolic acidosis
| High chloride level
211
Which heart sound is normal and which is pathologic in peds?
S3
S4
```
S3 = normal
S4 = always pathologic
```
212
Pneumatoceles on CXR
Staph aureus
213
Bacterial sinusitis
it is distinguished from a simple viral URI by at least 10 days of symptoms without improvement, a new or worsening fever (> 39°C), or worsening cough after initial improvement.
214
When can children switch to forward facing car seats?
Age 2, 20 lbs
215
MCHAT screening is done when
18-24 months
216
Calculating caloric requirements
100 kcal/kg for 1st 10 kg
50 kcal/kg for 2nd 10 kg
20 kcal/kg for any more kgs
217
Infant caloric requirements
100-120 kcal/kg/day
218
Eye issues in the following:
- NF type 1
- NF type 2
- Sturge Weber
- Galactosemia
- Congenital rubella
- Hurler
- Tay Sachs
- Nieman Pick
```
NF1- lisch nodules/optic gliomas
NF 2- cataracts
Sturge weber - glaucoma
Glactosemia - cataracts
Congenital rubella - cataractss
Hurler - corneal clouding
Tay Sachs - Cherry red macula
Nieman Pick- Cherry red macular
```
219
Management of:
hyphema
corneal abrasion
hyphema: eye shield
| corneal abrasion: topical antibx
220
Which disease: pain crises/peripheral neuropathy, doesn't sweat
Fabry
X linked
Can eventually progress to cardiomyopathy and renal failure
221
Features of Asthma Predictive Index
Major: 1 parent with asthma, child has eczema
Minor: allergic rhinitis, wheezing unrelated to colds/URIs, eosinophilia
Positive API is 1+ major criterion or 2+ minor
222
Immunodeficiency with susecptibility to PCP pneumonia
Hyper IgM
223
Immunodeficiency with eczema, diarrhea, and absence of thymic shadow on CXR
SCID
224
When should you introduce a cup and when should the child be fully weaned from the bottle?
Introduce at 6-9 months
| Wean by 12-15 months
