Pediatric Disorders Flashcards
cutis marmorata
lacy, reticulated vascular pattern over most of body when baby is cooled, improves after first month, can be associated with some syndromes, non-concerning
milia
firm, white papules, inclusion cyst, on palate midline; epstein pearls, spontaneous resolution
caused by accumulation of sweat beneath eccrine sweat ducts
salmon patch (nevus simplex)
pale, pink vascular macules found in nuchal area, glabella, eyelids, usually symmetric, facial ones disappear, posterior ones persist
mongolian spots
blue or slate-gray macules, seen on presacral, back, posterior thighs, arrest melanocytes, usually fade over first few years
differential: child abuse
erythema toxicum
firm, yellow-white papules/pustules with erythematous base, peaks on second day of life, contain eosinophils, self-limited
differential: staphylococcal scalded skin syndrome
port wine stain (nevus flammeus)
vascular malformation, permanent defect, unilateral, most on head and neck, rule out sturge-weber syndrome
treat with pulsed laser
hemangioma
superficial: bright red, protuberant, appear in first 2 months, involution by 5-9 years of age
deeper: bluish hue, firm, less likely to regress, treat with steroids or pulsed laser if huge and interfering with function
neonatal acne
erythematous papules on face, caused by maternal androgens, no treatment
preauricular tags/pits
look for hearing loss and genitourinary anomalies
nevus sebaceous
alopecia of orange-colored, nodular skin, possible malignant degeneration, remove before adolescence
coloboma of iris
cleft at “6 o’ clock” position, associated with CHARGE syndrome
aniridia
hypoplasia of iris, defect usually through to retina, associated with wilms tumor
branchial clef cyst
mass arising laterally, infections common, requires surgical removal
thyroglossal duct cyst
mass arising midline, moves with swallowing
hypospadias
urethral opening on ventral surface (under surface), common with other anomalies, no cricumcision
epispadias
urethral opening on dorsal surface (top surface)
phenylketonuria diagnosis and management
phenylalanine hydroxylase accumulation
mental retardation, vomiting, growth retardation, hyperactive, purposeless movements, athetosis, seizures
fair hair, fair skin, blue eyes, tooth abnormalities, microcephaly
MR occurs gradually over first few months
treatment: low phenylalanine diet for life
classic galactosemia diagnosis and management
G-1-P uridylyltransferase deficiency, accumulation of G-1-P with injury to kidney, liver, and brain
jaundice, hepatomegaly, hypoglycemia, cataracts, seizures, MR
predisposition to e. coli sepsis
may begin prenatally
treatment: no lactose reverses growth failure and cataracts but not neurodevelopmental problems
symmetric IUGR
early, in utero insult
genetic syndromes, chromosomal abnormalities, congenital infections, teratogens, toxins
asymmetric IUGR (head bigger than body)
relatively late onset after fetal organ development, abnormal delivery of nutritional substances and oxygen to the fetus
uteroplacental insufficiency secondary to maternal diseases, risk of neurologic asphyxia
characteristics of post-term infants
increased birth weight absence of lanugo decreased/absent vermix desquamating, pale, loose skin abundant hair, long nails meconium staining
transient tachypnea of the newborn
slow absorption of fetal lung fluid, decreased pulmonary compliance
tachypnea after birth, common in term infant delivered by c-section or rapid second stage of labor
rapid improvemen within hours or days
meconium aspiration
meconium passed from hypoxia or fetal distress can be aspirated, causing respiratory distress and hypoxemia, overdistention of chest, patchy infiltrates, increased AP diameter
treatment: positive pressure ventilation, nitric oxide, ECMO
diaphragmaic hernia
failure of diaphragm to develop, abdominal contents enter chest causing pulmonary hypoplasia
bowel sounds easily heard in chest
treatment: immediate intubation, ECMO, followed by surgical correction
meconium ileus
associated with cystic fibrosis, hirschsprung disease
treatment: high gastrografin enema
necrotizing enteroclitis
transmural intestinal necrosis caused by prematurity, introduction of feeds
treatment: cessation of feeds, gut decompression, systemic antibiotics, surgical resection of necrotic bowel if necessary
duodenal atresia
bilious vomiting from first feeding sign, AXR shows double-bubble sign
treatment: surgical correction
imperforate anus
failure to pass stool after birth, no anal opening visible
treatment: surgical correction
breast-feeding jaundice
jaundice that occurs in the first days of life, baby does not nurse adequately, becomes dehydrated, lack of calories causes jaundice
treatment: rehydrate baby
breast-milk jaundice
jaundice occurs in second week of life, occurs due to glucuronidase present in some breast milk
treatment: stop breast feeding for 1-2 days, bilirubin should fall significantly, although it will rise again, it will not rise to previous level, baby may then be safely breast fed
toxoplasmosis diagnosis and management
jaundice, hepatosplenomegaly, thrombocytopenia, anemia, microcephaly, chroioretinitis, hydrocephalus, intracranial calcifications, seizures
treatment: maternal treatment during pregnancy with spiramycin, infants treated with sulfonamide or pyrimethamine for first 6 months of life
congenital rubella
blueberry muffin rash, PDA, peripheral pulmonary artery stenosis, cataracts, congenital hearing loss, hepatosplenomegaly, thrombocytopenia
babies lose weight in the first few days after birth, when is original birth weight regained by
2 weeks of age
when does birth weight double by
4 months
what does birth weight triple by
12 months
when does birth weight quadruple by
24 months
birth height increases by 50% by this time
1 year
birth height doubles by this time
4 years
birth height triples by this time
13 years
how much does head circumference grow by during 0-3 months
5 cm
how much does head circumference grow by during 3-6 months
4 cm
how much does head circumference grow by during 6-9 months
2 cm
how much does head circumference grow by during 9-12 months
1 cm
car seat guidelines
< 1 year and < 20 pounds: face backward in the middle seat
> 1 year AND > 20 pounds: may face forward
> 40 pounds: move into booster seat until seatbelt still functions properly (4’ 9”)
how much calories are in breast milk and formula?
20 kcal/ounce for both
what is the caloric requirements in babies younger than 6 months
100-120 kcal/kg/day
what workup should be performed in infant with single umbilical artery
obtain renal sonogram to check for anomalies
caput v. cephalohematoma
caput: diffuse swelling/edema of the scalp that crosses suture lines and resolves within a few days
cephalohematoma: does not cross suture lines, resolves within weeks-months, increases likelihood of jaundice, more common with vacuum deliveries
harlequin color change
intense reddening of gravity dependent side, may be due to immature autonomic system, completely benign and will resolve in days-weeks
macular stains (stork bites)
permanent vascular malformations on nape of neck, upper eyelids, and middle of forehead, benign but permanent
SIDS
usually occurs 2-4 months of age
associated with low birth weight, prone sleeping position, sleeping on soft surface, overheating
prevention methods: supine position, pacifier use
when does anterior fontanelle close
96% by 24 months
if delayed, consider down sydrome, rickets, achondroplasia, congenital hypothyroidism
if closes too early, monitor for craniosynostosis
PFAPA syndrome
benign 4-5 day syndrome consisting of periodic fever, aphthous ulcers, pharyngitis, and adenitis, occurs monthly, usually affects preschool-aged children
treatment: glucocorticoides, maybe cimetidine
pertussis
7-10 days incubation period
mild URI symptoms precede paroxysmal cough, inspiratory whoop, and post-tussive emesis (can go on for weeks)
treatment: erythromycin/azithromycin, TMP-SMX
additional work-up in child diagnosed with UTI
voiding cystourethrogram and renal U/S in boys all ages or girls younger than 3, children with febrile or recurrent UTIs
2-3 mm yellow pustules with red base arising in first 24-72 hours after birth, pustular contents reveal numerous eosinophils
erythema toxicum
spider-webbing/marbling of the skin, benign condition
cutis marmorata
intense redding of gravity dependent side and blanching of the nondependent side with a line of demarcation between the two, lasting seconds-minutes
harlequin color change
due to accumulation of sweat beneath eccrine sweat ducts that are obstructed by keratin at the stratum corneum
milia
what medication is used for measles
vitamin A, possibly ribavirin
treatment for roseola infantum
anti-pyretics
etiology of delayed closure of the anterior fontanelle
down syndrome, rickets, achnodroplasia, congenital hypothryoidism
how would you expect weight to increase in the first 2 years of life
quadruple from birth weight
when do children first exhibit stranger anxiety
6 months
when is gender identity typically formed
2 years
when can children begin to eat solid foods
4-6 months
when can children drink cow’s milk
12 months
what interventions have been shown to reduce the incidence of SIDS
supine sleeping, pacifier, fan on in the room, no smoking, no toys in bed
when can a child convert from rear-facing to front-facing car seats
must be > 1 year AND > 20 pounds
how many total doses of DTaP vaccine should a 6-year-old have received
5 doses
what age is meningococcal vaccine indicated
after 11 years
bruton’s agammaglobulinemia
X-linked, B cell deficiency, defective tyrosine kinase gene
low levels of all IgGs, recurrent bacterial infections after 6 months
digeorge syndrome (thymic aplasia)
3rd and 4th pouches fail to develop, no thymus or parathyroid, no T cells, hypocalcemia and tetany
congenital defects in heart/great vessels
recurrent viral, fungal, and protozoal infections
associated with 22q11 deletion
severe combined immunodeficiency
severe recurrent infections, chronic mucocutaneous candidiasis, chronic diarrhea, failure to thrive, no thymic shadow
do not give live vaccines
chronic mucocutaneous candidiasis
T cell dysfunction, treat with anti-fungals
wiskott-aldrich immunodeficiency
thrombocytopenia, purpura, eczema, recurrent pyogenic infections
ataxia-telangiectasia
IgA deficiency
cerebellar ataxia, poor smooth pursuit of moving target with eyes, elevated AFP after 8 months, telangiectasias of face, increased risk of lymhomas and leukemias
radiation sensitivity
glycogen storage disease: lactic acidosis, hyperlipidemia, hyperuricemia
von gierk’s disease
liver cannot perform gluconeogenesis
glycogen storage disease: diaphragm weakness, respiratory failure
pompe’s disease (adult form)
glycogen storage disease: increased glycogen in liver, severe fasting hypoglycemia
von gierk’s disease
liver cannot perform gluconeogenesis
glycogen storage disease: hepatomegaly, hypoglycemia, hyperlipidemia (normal kidneys, lactate, and uric acid)
cori’s disease
glycogen storage disease: painful muscle cramps, myoglobinuria with strenuous exercise
mcardle’s disease
glycogen storage disease: severe hepatosplenomegaly, enlarged kidneys
von gierk’s disease
liver cannot perform gluconeogenesis
congenital heart defect, low calcium, recurrent infections
digeorge syndrome
chronic mucocutaneous candidiasis, chronic diarrhea, failure to thrive
SCID
trombocytopenia, eczema, and recurrent infections
wiskott-aldrich
poor smooth pursuit of eyes, elevated AFP after 8 months
ataxia-telangiectasia
partial albinism, recurrent URIs, neurological disorders
chediak-higashi disease
cleft lip/palate, life expectancy less than 1 year, polydactyly
trisomy 13
high-pitched cat-like cry
cri-du-chat
elfin facial features, cardiac defects
william’s syndrome
congenital anomaly with obesity and over eating
prader-willi syndrome
micrognathia, life expectancy less than 1 year, rocker-bottom feet
trisomy 18
happy mood, inappropriate laughter, ataxic gait
angelman syndrome
large ears, MR, macroorchidism
fragile X syndrome
MR, simian crease, GI and cardiac defects
trisomy 21
short stature, infertility, coarctation of aorta
turner syndrome
when do infections typically begin in children with immune disorders
after the first 3 months of life
