Pediatrics Flashcards
Do simple febrile seizures require a workup?
No. patients can be discharged home from the emergency department with reassurance
AR deficiency of phenylalanine hydroxylase?
PKU - build up of phenylalanine. failure to convert phenylalanine to tyrosine
Clinical features of PKU?
intellectual disability, fair complexion, eczema, musty urine and body odor
Diagnosis of PKU?
newborn screening (mass spec) quantitative amino acid analysis
Aldolase B deficiency?
hereditary fructose intolerane
introducing veggies and fruits leads to accumulation of fructose-1-phosphate. affected infants present with vomiting, poor feeds, lethargy
Galactose-1-phosphate uridyl transferase
galactosemia: present with jaundice, hepatomegaly, failure to thrive the first few days after birth. After consumption of breast milk or formula
large fontanelles, failure to thrive, hypotonia?
hypothyroidism
After suspecting Turner syndrome, what should be your first step in completing a diagnosis or in management?
Pelvic ultrasound to evaluate internal female anatomy
First step in evaluation of primary amenorrhea?
Pelvic exam or ultrasound
definition of primary amenorrhea?
absence of menarche by age 15
When should you do a brain MRI in the evaluation of primary amenorrhea?
uterus is present on ultrasound and serum FSH is low or inapp normal. Need to rule in/out pituitary or hypothalamic tumors
why do prolactinomas cause amenorrhea?
they inhibit GnRH release
Gold standard for diagnosis of Turners?
Karyotype
treatment for OCD?
high-dose selective SSRIs and exposure/response prevention based psycotherapy
Fever, pharyngitis, gray vesicles/ulcers on posterior oropharynx?
Herpangina from Coxsackie A virus
How does presentation of herpetic gingivostomatitis and herpangina differ?
herpetic gingivostomatitis would be found on anterior pharynx whereas coxsackie is posterior. herpetic- erythematous gingiva whereas coxsackie is gray vesicles/ulcers. herpes has grouped vesicles not solitary vesicles.
most common congenital cyanotic heart defect to present in neonatal period
transposition of great vessels
how does transposition of great vessels present?
First few hours of life with cyanosis and a single, loud, second heart sound.
“egg on a string” heart
findings on x-ray for transposition of great vessel
Harsh pulmonic stenosis murmur and a VSD murmur are found in what congenital heart defect?
Tet of Fallot.
“Boot shaped” heart due to RVH is seen in?
Tet of Fallot
Single S2 heart sound, VSD murmur and minimal blood flow in pulmonary artery?
Tricuspid atresia
If transposition of great vessels is suspected, what should you give right away?
prostaglandins to keep ductus arteriosus patent to optimize inter-circulatory mixing. also obtain an Echo.
What do ASD, dextrocardia, PDA and VSD have in common?
All acyanotic congenital heart diseases
2-3 year old child with impaired visual adaptation to darkness, photophobia, dry skin, xerosis conjunctiva, xerosis cornea, keratomalacia, bitot spots, follicular hyperkeratosis of extensor surfaces
vitamin A deficiency
Patients with Tourette syndrome are at significant risk for what other psych comorbidities?
ADHD and/or OCD
selective mutism
verbal and talkative at home but refuse to speak in specific social settings- commonly at school. (considered an anxiety disorder)
life-threatening descending flaccid paralysis in an infant?
botulism. clostridium botulinum spores
treatment for botulism?
human derived botulism immune globulin
Other common cause of C. botulinum other than honey ingestion of the spores?
Spore inhalation from environmental dust
What is the treatment for ingestion of preformed C. botulinum in food?
Equine-derived botulism antitoxin
MOA of botulinum toxin
blocks Ach release at presynaptic neurons
Cephalohematoma
subperiosteal hemorrhage. presents a few hours after birth as scalp swelling limited to 1 cranial bone. no discoloration of scalp
treatment for cephalohematoma
most cases resorb spontaneously within 2 weeks - 3 months
caput succedaneum
diffuse, sometimes ecchymotic swelling of scalp. crosses suture lines.
cranial pulsations, increased pressure when crying, evidence of bony defects?
cranial meningocele
appearance of “pink stain” or “brick dust” in newborn diapers represents?
uric acid crystals
SCM muscle mass, ipsilateral head tilt, contralateral chin deviation?
Congenital muscular torticollis
Treatment strategies for congenital muscular torticollis?
increased tummy time, passive stretching, physical therapy
cystic hygroma
lymphatic system malformations located in posterior triangle of neck. often detected prenatally. high association with aneuploidy
physical exam of cystic hygroma would show
fluctuant mass that transilluminates
craniosyntosis
premature closure of cranial sutures
anemia of prematurity is caused by?
due to diminished epo levels, shortened RBC life span, blood loss (iatrogenic blood sampling)
Meconium ileus is virtually diagnostic for?
cystic fibrosis
congenital aganglionic megacolon?
Hirschsprung disease
99% of healthy, full-term infants pass stool within the first ____ hours of life
48
character of meconium in meconium ileus?
thick and inspissated
narrow and underdeveloped microcolon should make you think of?
meconium ileus
Hirshsprung disease is associated with?
down syndrome
“squirt sign?”
forceful expulsion of stool after rectal exam
X-linked agammaglobulinemia (Bruton agammaglobulinemia) results from?
impaired maturation of B cells. patients have small or absent lymphoid tissue. experience recurrent sinopulm and GI infections.
Patient with recurrent infections and “small tonsils” should make you think of?
x-linked agammaglobulinemia
adenosine deaminase deficiency
gene defect resulting in impaired T cell development- severe combined immunodeficiency.
Patients who have recurrent disseminated bacterial infections particularly with encapsulated bacteria may have what deficiency?
complement
recurrent skin and pulm infections wth catalase positive organisms and failure to thrive?
impaired oxidative burst
hypocalcemia, cardiac defects, failure to thrive, recurrent infections?
thymic hypoplasia. DiGeorge syndrome
cystathionine synthase deficiency
homocystinuria: errors in methionine metabolism
differential diagnosis of marfinoid body habitus?
marfan syndrome, homocystinuria, MEN syndrome
fair hair, fair eyes, developmental delay, cerebral vascular accident are pathognomonic for?
homocystinuria
Treatment for homocystinuria?
B6, folate, B12 to lower homocysteine levels and antiplatelet and anticoag to prevent stroke
some superficial infantile hemangiomas require treatment with _____ while most regress spontaneously
B-blockers
nevus simplex (macular stain, salmon patch, stork bite, angel kiss)
blanchable, pink-red patches, occur on eyelid, glabella, midline of nape of neck
post-exposure prophylaxis for rabies
rabies immune globulin and rabies vaccine immediately after exposure to high-risk wild animals
hydrophobia and aerophobia (feeling of water or air triggers involuntary muscle spasms) is present in?
human rabies
incubation period for rabies and prognosis?
1-3 month incubation. almost all patients die within weeks.
coins in the esophagus can be observed up to ___ hr after ingestion
24
Duchenne muscular dystrophy presents as
age 2-5 with bilateral calf pseudohypertrophy and Gower sign (using hands to push on legs to stand)
transmission of duchenne muscular dystrophy is?
X-linked recessive
gold standard for diagnostic testing of duchenne muscular dystrophy is?
genetic testing. deletion of dystrophin gene on Xp21
Serum creatinine phosphokinase and aldolase levels are elevated when?
screening for muscular dystrophies
congenitally absent or underdeveloped uterus, cervix, upper vagina in a patient with breast development, body hair growth? normal ovaries and external genitalia
mullerian agenesis
5-alpha reductase deficiency
cant convert testosterone to more potent DHT 46 XY genotype. male internal genitalia. female or undermasculinized external genitalia at birth. at puberty they experience masculinization
46 XY karyotye with defective androgen receptor and male internal genitalia. testicular testosterone is converted to estrogen-breast development
androgen insensitivity
cornell criteria
tall R wave in avL
Deep S wave in V3. characteristic for LVH
vomiting, encephalopathhy, hepatic dysfunction, abnormal behavior are presenting symptoms for?
reye syndrome
blue sclera, hearing loss, recurrent fractures, opalescent teeth
osteogenesis imperfecta
Vitamin D deficiency and pathologic fractures?
Rickets
blue-gray to yellow-brown discoloration of teeth should make you think of?
osteogenesis imperfecta (dentinogensis imperfecta)
4 main causes on differential diagnosis of stridor?
croup, foreign body (acute)
laryngomalacia, vascular ring (chronic)
when stridor improves with neck extension, think of ___ as the etiology?
vascular rings and slings
collapse of supraglottic structures during inspiration that presents with chronic inspiratory stridor (improves with prone positioning)
laryngomalacia
Infants with weight < 10th percentile may have complications such as?
hypoxia, polycythemia, hypothermia, hypoglycemia, hypocalcemia
most significant risk factor for ICH in an infant?
prematurity
chylothorax exudative or transudative effusion?
exudative
pleural effusion with high triglyceride count should make you think of?
chylothorax due to disruption of lymphatic flow
metatarsus adductus
congenital foot deformity where forefoot turns inward. foot is usually still flexible and this resolves spontaneously also normal neutral position of hindfoot in contrast to club foot.
how is measles spread?
infected droplets
prodrome of measles?
fever, cough, coryza, non-purulent conjunctivitis, koplik spots
describe the rash of measles
erythematous, sometimes puritic macular rash that starts on face and spreads in cephalocaudal direction
diagnosis of measles?
PCR
Roseola is caused by?
HHV6
When does rash in roseola appear?
when the fever resolves
“3 day measles”
Rubella (no koplik spots) lower fever
brief period of apnea, cyanosis triggered by emotional change
breath holding spell
left axis deviation on ECG and decreased pulm vascular markings should make you think of?
tricuspid atresia
3-4 months, hypoglycemia, seizure, lactic acidosis, hyperuricemia, hyperlipidemia, thin extremities, short stature, hepatomegaly, doll-like face with rounded cheeks
glucose 6 phos deficiency. von Gierke disease.
inability to break down glycogen into glucose
gold standard treatment for SCFE
immediate surgical screw fixation
idiopathic avascular necrosis of the hip that affects boys age 5-7 years old?
legg-calve perthes disease
risk factors for milk or soy protein induced colitis
FH of allergy, eczema, asthma
patient is well appearing 1 month old with consistent vomiting after feeds and painless bloody stools with eczema. think of?
milk-soy protein induced colitis
Trachoma
due to infection with chlamydia trachomatis serotypes A, B, C presenting with follicular conjunctivitis and inflammation
delayed umbilical cord separation, recurrent skin and mucosal bacterial infections, severe preidontal disease, leukocytosis with neutrophil predominance suggests? **lack of pus!!
leukocyte adhesion deficiency
defect in intracellular killing due to impaired respiratory burst from activated phagocytes
chronic granulomatous disease
catalase positive organisms (staph aureus, serratia)
ingestion of what drug would cause abdominal pain, hematemesis, metabolic acidosis?
iron intoxication
2 most common causes of acute bacterial sinusitis?
Strep pneumo and nontypeable Hflu
treatment of choice for sinusitis?
amoxicillin-clavulonic acid
venous lead level of 5-44 (mild) treat with?
no medication. repeat level in < 1 month
moderate venous lead level (45-69) treat with?
meso-2,3-dimercaptosuccinic acid (DMSA)
severe lead poison > 70 treat with?
dimercaprol british anti-lewis plus EDTA
what is the initial screen for blood lead levels? what do you do if initial screen is > 5 for lead?
finger stick
do venous lead
most common cause of vaginal bleeding in the neonatal period?
maternal withdrawal of hormonal estrogen
IUGR, microcephaly, closed fists with overlapping fingers, hypertonia, microagnothia, prominent occiput, rocker bottom feet, severe intellectual disability =
trisomy 18
gold standard for diagnosis of Hirshsprung
rectal suction biopsy
neurocutaneous syndrome characterized by congenital unilateral cavernous sinus hemangioma along trigem nerve distribution. radiographic evidence of intracranial calcifications resemble tramline
Sturge-Weber syndrome
Typical neuro presentation in Sturge-Weber syndrome?
seizure, hemianopia, hemiparesis, hemisensory, ipsilateral glaucoma
Levonorgestrel and Ulipristal
Plan B. oral emergency contraceptive options that prevent pregnancy by delaying ovulation. Its progestin (L) or antiprogestin (U) and can be given 72 (levonorgestrel) or 120 (ulipristal) hours after intercourse
treatment for idiopathic avascular necrosis of hip?
conservative with observation and bracing but may need surgery if femoral head is not contained in acetabulum
treatment for patient with congenital QT syndrome
beta blockers and pacemaker placement
All patients with central cause of precocious puberty (elevated LH and FSH) should have what test done?
head CT or MRI
How do you treat central precocious puberty?
GnRH analog
peripheral precocious puberty is caused by?
gonadal or adrenal release of excess sex hormone
blueberry muffin spots
finding of all congenital infections
copious rhinorrhea and a maculopapular rash that desquamates or becomes bullous in a newborn born to mom without prenatal care is concerning for ?
congenital syphilis
periventricular calcification suggests what congenital disease
CMV
diffuse intracerebral calcifications and severe chorioretinitis suggests what congenital disease?
toxo
cataracts and heart defects suggest what congenital disease?
rubella
microangiopathic hemolytic anemia, thrombocytopenia, acute kidney injury =
HUS
how can you differentiate DIC from HUS?
abnormal coag studies
which type of RTA has a basic urine?
distal RTA type 1. Defect in hydrogen secretion into the urine.
RTA where defect lies in inability to reabsorb bicard?
Type II (Proximal)
Fanconi syndrome
type II RTA (inability to reabsorb bicarb plus glucosuria, aminoaciduria, phosphaturia)
RTA with aldosterone resistance?
Type IV - results in high serum K (caused by obstructive uropathy, CAH)
Treatment for RTA?
give serum bicarb
most common heart defect with downs syndrome?
complete AV septal defect. failure of endocardial cushions to close results in ASD and VSD
Dihydrorhodamine 123 or nitroblue tetrazolium testing is used for?
chronic granulomatous disease (impaired intracellular killing by phagocytes)
recurrent pulm and skin infections. catalase + organisms
cafe-au-lait macules, tumors of skin and central and peripheral nervous systems, axillary, inguinal freckles and lisch nodules (iris hamartomas) and neurofibromas
NF1
optic glioma is the most common type of intracranial lesion in what disease?
NF1
bilateral acoustic neuromas (vestibular schwanomas)- cause sensorineural hearing loss and are found in?
NF2
hypopigmented macules (ash-leaf spots), facial andiofibromas, cardiac rhabdomyomas, renal angioleiomyomas, mental retardation, seizure
tuberous sclerosis
All patients with central precocious puberty (GnRH dependent) should have?
brian MRI with contrast
primary treatment option for idiopathic GDPP is?
GnRH agonist to maximize adult height potential
definition of neonatal polycythemia?
hematocrit > 65% in term infants
delayed clamping of umbilical cord is a risk for?
polycythemia
symptomatic infants with polycythemia require?
partial transfusion (where blood is removed in exchange for normal saline)
asymptomatic neonates with polycythemia require
hydration by feeding or parenteral fluids
therapy for cyclical vomiting syndrome?
anti-emetics and anti-migraine (as family history of migraine is often present)
abnormal acidified glycerol lysis test and eosin-5-maleimide binding test suggest?
Hereditary spherocytosis
AD mutation of ankyrin gene?
Hered sphero
cough, coryza, conjunctivitis is the typical prodrome for?
measles
maculopapular rash that spreads in cephalocaudal pattern suggests?
Measles
Transmission route of measles (rubeola)
airborne
What precautions should be taken for patients with known or suspected measles?
isolation, airborne precautions (negative pressure room), N95 facemask for health care personnel)
measles, varicella, TB are all spread?
airborne
influenza and RSV are spread?
droplet
Most common presenting symptom for patients with sickle cell trait?
painless hematuria or isothenuria (impaired concentrating ability) that can present as nocturia and polyuria
most common congenital cause of aplastic anemia?
Fanconi anemia
diagnosis of fanconi anemia is made by?
chromosomal breaks on genetic analysis
definitive treatment for aplastic anemia?
hematopoietic stem cell transplant
patient with aplastic anemia, short stature, microcephaly, abnormal thumbs, hypogonadism, cafe au lait spots, large freckles, low set ears, strabismus, middle ear abnormalities, deafness, chronic infection has?
Fanconi anemia
Name the 3 categories of muscular dystrophy
Duchenne
Becker
Myotonic
Duchenne and Becker muscular dystrophy are inherited?
X-linked recessive deletion of dystrophin gene on chromosome Xp21
mytonic dystrophy is inherited?
AD (CTG expansion)
2/3 year old with progressive weakness, gower maneuver, calf pseudohypertrophy
Duchenne muscular dystrophy
5-15 year old with mild weakness who shows up to cardiologist in his 50s with cardiomyopathy
Becker muscular dystrophy
15 year old with facial weakness, hand grip myotonia (slow relaxation) and dysphagia and testicular atrophy
myotonic dystrophy
Inspiratory stridor that worsens in supine position and improves with prone position
laryngomalacia
Increased laxity of supraglottic structures
laryngomalacia
omega shaped epiglottis?
laryngomalacia
first test to order for vascular ring? confirmation with?
barium swallow
MRI with angiography
before surgical correction in DS patients with duodenal atresia yu must?
preop cardiac assessment due to high occurance of VSD or ASD
sudden vasomotor collapse and skin rash in a patient with meningococcemia?
Waterhouse-Friderichsen syndrome
adrenal hemorrhage
2 main causes of acute severe anemia in sickle cell disease?
Aplastic crisis
Splenic sequestration
what is the cause of aplastic crisis in sickle cell disease
parvo B19 causes transient arrest of erythropoiesis with decreased retic count
Reticulocyte count during splenic sequestration crisis in sickle cell?
high
Absence seizures can be accompanied by
simple automatisms (eyelid fluttering, lip smacking)
first line treatment for absence seizures?
ethosuximide
gait ataxia, loss of reflexes, loss of vibratory sense should make you concerned for?
friedreich ataxia
GAA repeat AR condiation
friedreich ataxia
most common causes of meningitis in children 1?
strep pneumo and neisseria
in infants < 28 days with meningitis who have physiologic hyperbilirubinemia what abx should be used?
cefotaxime instead of ceftriaxone. because ceftriaxone displaces bilirubin from albumin and increases risk of kernicterus
when is dexamethasone indicated for meningitis?
reduce risk of sensorineural hearing loss with H. flu
hypertonia, hyperphagia, obesity?
Prader-Willi
Inheritance of prader willi?
loss of paternal copy of 15q11-q13
short stature, intellectual disability, smiling laughter, hand flapping, ataxia, seizures
Angelmann syndrome (deletion of maternal 15q11-q13)
most common sites for osteonecrosis in sickle cell patients?
humeral and femoral heads
chronic groin, butt, thigh pain that starts hurting only with activity but progresses to rest pain in an adolescent with sickle cell?
osteonecrosis/ avascular necrosis of hip
most common causes of meningitis is children < 3 months?
GBS
E.coli
Listeria
HSV
causes of meningitis in children 3mo-10 years?
strep pneumo
neisseria
> 11 year old child- most common cause of meningitis?
neisseria
classic injury caused by swinging or pulling child by their arms?
subluxation of radial head
how do you fix subluxation of radial head?
full recovery after closed reduction by hyperpronation of forearm OR
supination of forearm while flexing the elbow
common head complication in premature and underweight neonates?
interventricular hemorrhage
what should you think about if you see ventricles swollen with CSF on CT of neonate?
interventricular hemorrhage- impairing absorption of CSF
Rash after amoxicillin in a aptient with pharyngitis, fatigue, lymphadenopathy suggests?
Mono- EBV
Wiskott-Aldrich
X-linked disorder characterized by thrombocytopenia, eczema, recurrent infections
defect in cytoskeleton regulation leading to microthrombocytopenia?
wiskott-aldrich
atresia of jejunum or ileum is usually due to?
vascular accident in utero
triple bubble sign and gasless colon on abd x-ray =
gas trapping in stomach duodenum, jejunum
most common cause of breast mass in an adolescent?
fibroadenoma
how to manage adolescent with suspected fibroadenoma?
re-examine after next menstrual period for decrease in mass size or tenderness
Differentil for a solitary, painful, lytic bone lesion in a child with overlying swelling and hypercalcemia?
langerhans cell histiocytosis AND
neoplasm
What evaluation is imperitive in people with guillain-barre?
Serial spirometry measurements
CVID
B-cell differentiation is abnormal. Recurrent resp and GI infections
Traction apophysitis of tibial tubercle =
osgood-schlatter
defect in CD40 ligand characterized by high IgM, low IgG and IgA and normal lymphocyte populations
hyper IgM syndrome
posttussive emesis is characteristic of?
pertussis (whooping cough)
what will you see on liver biopsy in a patient with reyes syndrome?
microvesicular fatty infiltration
pediatric aspirin use during flu or varicella infection causes?
Reye syndrome
pubertal gynecomastia
seen in up to 2/3 of adolescent boys in mid-late puberty (can be unilateral, bilateral, painful or not). dont need treatment. it resolves in few months to 2 years
Trendelenburg sign
drooping of contralateral pelvis when patient stands on 1 foot. waddling gait. caused by weakness/paralysis of gluteus medius and minimus muscles (superior gluteal nerve)
First line pharmaceutical for enuresis? If patients dont respond to first line?
desmopressin
TCAs
two most common posterior fossa tumors in children?
cerebellar astrocytoma
medulloblastoma
patient with cystic fibrosis presents with mucosal bleeding, easy bruising, prolonged PT- what is going on?
Fat soluble vitamin deficiency
Vit K deficiency- leading to deficient factors II, 7, 9, 10, C, S
what is the mechanism of hematuria in sickle cell patients?
renal papillary necrosis
when infants or children are lifted/pulled by the hand or arm what injury can take place?
radial head subluxation
Erythromycin ophthalmic ointment is highly effective in treating?
gonococcal conjunctivitis
chemical conjunctivitis presents what timeline?
< 24 hours
Gonococcal conjunctivitis presents what timeline?
2-5 days
how do you treat gonococcal conjunctivitis?
Single IM dose of 3rd gen cephalosporin
timeline presentation of chlamydial conjunctivitis
5-14 days
how do you treat chlamydial conjunctivitis?
PO macrolide
complications of gonococcal conjunctivitis?
corneal scarring, ulceration, blindness
all infants should receive topical prophylaxis within an hour of birth for?
gonococcal conjunctivitis
what antibiotic is indicated for cat bite?
pasteurella multocida
sensorineural hearing loss, cardiac defects (PDA), cataracts (leukocoria- white pupillary reflex) =
congenital rubella
presentation of rubella in kids?
fever
cephalocaudal spread of maculopapular rash
limb hypoplasia, cataracts, distinctive skin lesions and scarrring = ?
congenital varicella
chorioretinitis, hydrocephalus, diffuse intracranial calcifications?
congenital toxo
IgA vasculitis, palpable purpura on lower extremities, abd pain, arthralgias, renal involvement
HSP
purpura with normal platelet count?
HSP (IgA vasculitis)
isolated thrombocytopenia and petechia presenting after a viral infection?
immune thrombocytopenia
Treatment for immune thrombocytopenia?
observation. typically self resolves.
IVIG and glucocorticoids if bleeding
what is a common way that sickle cell normocytic, hemolytic anemia might change to a macrocytic?
folate consumption due to increased reticulocyte count
pathophys of refeeding syndrome?
carb intake stimulates insulin which causes cellular uptake of phosphorus, potassium, magnesium
painless hematochezia in a young toddler is likely due to?
Meckel’s diverticulum
Diagnosis of Meckel’s diverticulum is best done with?
technetium-99m pertechnetate scan
craniotabes (softening or thinning of skull bones), rachitic rosary (costochondral bumps), genu varum
Vitamin D deficiency rickets
Recurrent cystitis in toddlers is often caused by?
constipation
cyanosis, dark chocolate colored blood and low pulse ox with normal PaO2 on ABG?
methemoglobinemia
antidote for methemoglobinemia?
methylene blue
Pralidoxime is antidote for?
cholinergics
glucagon is antidote for?
B-blocker, CCB
Fomepizole antidote for?
ethylene glycol, methanol ingestion
dimercaprol antidote for
lead
Treatment of choice for impetigo?
topical mupirocin
