Bronchiolitis pathopysiology

viral induced inflammation of small, distal airways; bronchiolar obstruction from sloughed epithelial cells, leukocytes and mucus; RSV most common cause

Bronchiolitis clinica presentation

Age <2; antecedent nasal congestion, rhinorrhea, cough, wheezing and crackles, tachypnea, retractions (peak severity days 3-5)

Bronchiolitis radiographic findings

bilateral hyperinflation, increased interstitial markings and peribronchial cuffing

Bronchiolitis treatment

supportive

Bronchiolitis complications

apnea (<2 months old), resp failure

Bronchiolitis prevention

nirsevimab for all children under 8 months old

Transposition of great vessels is

a congenital defect that typically presents within the first 24 hrs of life w/ cyanosis and a single loud S2

Hypertrophic cardiomyopathy in infants of diabetic mothers pathogenesis

maternal hyperglycemia leading to fetal hyperglycemia and hyperinsulinemia; increased glycogen and fat deposition in interventricular septum leading to LVOT obstruction

Hypertrophic cardiomyopathy in infants of diabetic mothers clinical findings

often asymptomatic but may have resp distress and/or hypotension; systolic ejection murmur

Hypertrophic cardiomyopathy in infants of diabetic mothers imaging

CXR: cardiomegaly

ECHO: increased thickness of interventricular septum and decreased LV chamber size

Hypertrophic cardiomyopathy in infants of diabetic mothers treatment

IV fluids and beta blockers to increase LV blood volume

Hypertrophic cardiomyopathy in infants of diabetic mothers prognosis

spontaneous regression age 1

Psychogenic pseudosyncope

a type of conversion disorder characterized by an apparent loss of consciousness w/o impaired cerebral perfusion. Prolonged duration of unconsciousness, absence of objective physical findings, and high frequency of episodes are common.

They'll say stuff like "I felt my head throbbing after I hit the floor." or "I felt weak before I passed out"

Cataplexy

an emotionally triggered, sudden loss of muscle control, can mimic syncope; however, it typically occurs in pts w/ narcolepsy, who usually have other symptoms such as excessive daytime sleepiness. The episodes are brief.

Causes of acquired QT prolongation

macrolides and fluoroquinolones, odansetron and them, azoles (fluconazole), antipsychotics, TCAs, SSRIs, some opioids (methadone, oxycodone), quinidine (class Ia antiarrythmics), dofetilide, sotalol (class III antiarrythmics), electrolytes abnormalities (decreased Mg, K, and Ca)

Congenital causes of QT prolongation

Romano-Ward syndrome, Jervell and Lang-Nielsen syndrome

Tof can present with

hypercyanotic tet spells due to RVOT obstruction and right to left shunting in the setting of exertion of agitation. Squatting increases afterload, which increases blood flow across the RVOT, which in turn improves cyanosis

Isolated ASD

an acyanotic lesion that causes a wide and fixed splitting of S2 and a systolic ejection murmur due to increased blood flow across the pulmonic valve

Partial anomalous pulmonary venous return

drainage of some but not all pulmonary veins into the right sided circulation typically demonstrating a step-up in oxygen saturation from the inferior vena cava to the right atrium. Other clinical findings include right-sided cardiac enlargement and signs of pulmonary HTN (exertional dyspnea)

Trisomy 18 (Edwards syndrome)

characterized by micrognathia, microcephaly, rocker bottom feet, overlapping fingers, and absent palmar creases. Ventricular septal defect in common in these pts w/ a holosystolic murmur

Peripheral cyanosis in children mechanism

increased tissue oxygen extraction

Peripheral cyanosis in children typical causes

vasomotor instability, cold exposure, low cardiac output, venous obstruction

Peripheral cyanosis in children features

finger, toe, perioral cyanosis, cool extremities, does not improve with oxygen

Central cyanosis in children mechanism

decreased systemic O2 sat

Central cyanosis in children typical causes

pulm disease, cyanotic heart disease

Central cyanosis in children features

diffuse and/or mucosal cyanosis, warm extremities, may improve w/ O2

Pathologic murmurs history

infants: poor weight gain, resp distress, difficult feeding

older children: exertional fatigue, chest pain, syncope

fam Hx of SCD of CHD

Pathologic murmurs characteristics

holosystolic or diastolic, harsh, grade at least 3 intensity, intensity persists w/ standing and valsalva maneuver

Pathologic murmurs other findings

central cyanosis, loud fixed, or single S2, weak femoral pulses, hepatomegaly

Pathologic murmurs management

EKG and ECHO

Benign murmurs history

asymptomatic, normal growth, no significant family history

Pathologic murmurs characteristics

early or midsystolic, musical or vibratory, grade 1-2 intensity, decreases or disappears w/ standing and valsalva maneuver

Pathologic murmurs other findings

normal vitals, normal S1 and S2, symmetric pulses

Pathologic murmurs management

reassurance

Persistent pulm HTN of the newborn pathogenesis

abnormal persistent of increased fetal pulm vascular resistance, right to left shunting across ductus arteriosus

Persistent pulm HTN of the newborn risk factors

lung hypoplasia (congenital diaphragmatic hernia), meconium aspiration syndrome, infection (neonatal pneumonia)

Persistent pulm HTN of the newborn examination

decreased postductal relative to preductal O2 sat, resp distress and cyanosis, prominent S2

Persistent pulm HTN of the newborn treatment

O2 and ventilation, inhaled nitric oxide (pulm dilator)

Infection control isolation precautions airborne

tuberculosis, varicella, SARS, measles

Infection control isolation precautions contact

VRE, MRSA, E coli O157:H7, scabies, RSV, C. diff

Infection control isolation precautions droplets

mycoplasma pneumonia, influenza, Hib, neisseria meningitidis, adenovirus

Krabbe disease

galatocerebridase deficiency, AR, presents early in infancy w/ developmental regression, hypotonia, and areflexia

Hurler syndrome

lysosomal hydrolase deficiency, presents at age 6 months to 2 yrs w/ coarse facial features, inguinal or umbilical hernias, corneal clouding, and hepatospenomegaly

Once Guillian Barre syndrome is suspected in a hemodynamically stable patient...

assess pulm function w/ spirometry. FVC and negative inspiratory force monitor resp muscle strength and serial pulm function testing should be performed given the potential for rapid progression of disease

Guillian Barre syndrome CSF

WBC: 0-5

Glucose: 40-70

Protein: 45- 1,000

Viral Meningitis CSF

WBC: 10-500

Glucose: 40-70

Protein: <150

Tuberculous Meningitis CSF

WBC: 100-500

Glucose: <45

Protein: 100-500

Bacterial Meningitis CSF

WBC: >1000

Glucose: <40

Protein: >250

Congenital Toxoplasmosis

chorioretinitis, obstructive hydrocephalus, parenchymal calcifications

Congenital Syphilis

osteoarticular destruction (Hutchinson teeth, saddle nose), hepatosplenomegaly, jaundice, rhinitis, and rash

Congenital Rubella

cataracts, sensorineural hearing loss, PDA

Congential CMV

sensorineural hearing loss, hydrocephalus ex vacuo, and periventricular calcifications

Retinal detachment typically presents with

acute vision loss, floaters, and flashes of light. Funduscopic exam shows a retinal tear and/or elevation

Open-angle glaucoma causes

painless loss of peripheral vision and presents in late adulthood. Funduscopic exam shows optic nerve cupping

Vitamin A deficiency causes

xerophthalmia, characterized by excessive dryness of the cornea and conjunctivae, and night blindness

Retinitis Pigmentosa etiology

genetic mutation causing loss of photoreceptors, progressive retinal degeneration, symptom onset from age 10 through adulthood

Retinitis Pigmentosa clinical features

night blindness, progressive visual field loss (midperiphery), decreased visual acuity (late finding)

Retinitis Pigmentosa Funduscopic findings

retinal vessel attenuation, optic disc pallor, abnormal retinal pigmentation

Retinitis Pigmentosa prognosis

most are legally blind by age 40

Most infants with congenital syphilis

asymptomatic at birth; those with symptoms typically have rhintis (snuffles), hepatomegaly, and a maculopapular rash

Use of lisinopril during pregnancy can cause

fetal renal failure and associated oligohydramnios that results in pulm hypoplasia, growth restriction, and limb defects (Potter sequence)

To minimize risk of congenital malformation, pts who require antiepileptics during pregnancy should be

titrated to the lowest dose for seizure control prior to conception and started on high dose (4mg) folic acid supplementation

Fetal hydantoin syndrome

microcephaly, cleft lip and palate, cardiac defects, hypoplasia of nails and phalanges, wide anterior fontanelle, due to in utero exposure to an antiepileptic (phenytoin, carbamazepine, valproate)

Erb-Duchenne palsy

involves the 5th, 6th, and sometimes 7th cranial nerves

Erb-Duchenne palsy management

observation and physical therapy b/c up to 80% of pts have spontaneous recovery within 3 months

Neonatal HSV infection skin, eye, and mouth clinical findings

mucocutaneous vesicles, keratoconjunctivitis

Neonatal HSV infection CNS clinical findings

seizures, fever, lethargy, temporal lobe hemorrhage/edema

Neonatal HSV infection disseminated clinical findings

sepsis, hepatitis, pneumonia

Neonatal HSV infection Dx

viral surface cultures: HSV PCR (blood, CSF)

Neonatal HSV infection treatment

acyclovir

Newborns thermoregulatory center

underdeveloped and are at risk for hypothermia. Skin to skin contact prevents heat loss. You could also swaddle w/ warm blankets and place under a radiant warmer.

Newborns underdeveloped thermoregulatory center vitamin K injection and ophthalmic erythromycin ointment

postpone for an hour

Asymmetric fetal growth restriction onset

2nd/3rd trimester

Asymmetric fetal growth restriction etiology

uteroplacental insufficiency, maternal malnutrition

Asymmetric fetal growth restriction clinical features

head-sparing growth lag

Asymmetric fetal growth restriction management

monitor/treat complications (hypoglycemia, hypothermia, polycythemia and hypocalcemia)

Symmetric fetal growth restriction onset

1st trimester

Symmetric fetal growth restriction etiology

chromosomal abnormalities, congenital infection

Symmetric fetal growth restriction clinical features

global growth lag

Symmetric fetal growth restriction management

monitor or treat complications (hypoglycemia, hypothermia, polycythemia and hypocalcemia)

Neonatal complications of diabetes during pregnancy

hypoglycemia, polycythemia (low iron), hypocalcemia and hypomagnesemia, hyperbilirubinemia, congenital anomalies, macrosomia (w/ brachial plexus injury or clavicle fracture), resp distress syndrome, hypertrophic cardiomyopathy

Pts w/ cryptorchid testes are at risk of

testicular cancer (dysgerminoma, gonadoblastoma), due in part to an increase in intraabdominal temperature that causes abnormal spermatogenesis and aberrant germ cell differentiation

Androgen insensitivity syndrome pathophysiology

x-linked mutation in androgen receptor

Androgen insensitivity syndrome management

gender identity/assignment counseling: gonadectomy (malignancy prevention)

Fibrocystic change in breast and juvenile fibroadenoma both typically present in the

upper outer quadrant of the breast after menarche

Primary amenorrhea

absence of menarche in a girl at least 13 years old w/ no secondary sexual characteristics, or a girl at least 15 years old w/ secondary sexual characteristics. If pelvic US shows uterus, test FSH levels and that'll give you your answer

First line treatment for symptomatic fused labia due to labial adhesions

topical estrogen

Balantis

inflammation of the glans penis

Balanoposthitis

inflammation of the glans penis and foreskin

Balantis and Balanoposthitis causes

irritation, infection, trauma

Balantis and Balanoposthitis evaluation

KOH microscopy for suspected candida infection

STI screen if urethral discharge present

Balantis and Balanoposthitis management

foreskin hygiene, sitz baths, topical treatment, diabetes 2 screening for candida infection w/o risk factors

Hydrocele

fluid collection within the tunica vaginalis, which surrounds the testis. Should spontaneously resolve by 1 y/o and can safely be monitored during that period

Cryptorchidism risk factors

prematurity, small for gestational age

Cryptorchidism clinical features

empty, poorly rugated scrotum on affected side(s) +/- inguinal fullness/mass

Cryptorchidism management

orchiopexy and 6-12 months

Cryptorchidism complications

inguinal hernia, testicular torsion, infertility, testicular cancer

If neither testicle is palpated in the groin area a difference of sex development is of primary concern;

evaluate 17-hydroxyprogesterone level and electrolytes. Perform karyotype and pelvic US

First step in management of hypospadias

urologic evaluation b/c most cases require surgical correction. Circumcision is deferred until after evaluation b/c the foreskin may be required for hypospadias repair

Hypospadias pathogenesis

failure of urethral folds to fuse

Hypospadias clinical features

ventrally displaced urethral meatus, dorsal hooded foreskin, +/- underdeveloped penis and glans, +/- penile curvature (chordee)

Other Hypospadias management

+/- karyotype, pelvic US if severe

Mastoiditis is a complication of

acute otitis media most commonly due to strep pneumo

Mastoiditis treatment

IV antibiotics, drain via tympanostomy or mastoidectomy

Young children w/ stroke symptoms

headache, seizure, in addition to focal neurological deficits

Young children w/ stroke management

urgent MRI/MR angio to confirm Dx and determine eligibility for potenital reperfusion therapies

Sydenham Chorea etiology

autoimmune complication that can occur months after GAS infection

Sydenham Chorea pathogenesis

molecular mimicry btw anti-GAS antibodies and neuronal antigens in basal ganglia

Sydenham Chorea clinical features

involuntary jerky movements, hypotonia, emotional lability, obsessive complusive behaviors, +/- sx of acute rheumatic fever

Sydenham Chorea Dx

GAS test w/ throat culture, ASO and Anti-DNAse B titers, ECHO and EKG

Sydenham Chorea treatment

abx and antidopaminergics (haloperidol)

Chiari I malformation etiology

displacement of the cerebellar tonsils through the foramen magnum

Condition commonly associated w/ Chiari I malformation

syringomyelia

Chiari I malformation presentation

although frequently asymptomatic, presentation may occur in adolescence/adulthood w/ occipital headache exacerbated by activity and valsalva maneuvers

Chiari II malformation etiology

herniation of cerebellum through foramen magnum

Chiari II malformation clinical findings

obstruction of cerebrospinal fluid flow through 4th ventricle, lateral ventricular dilation, myelomeningocele

3 year milestone gross motor

walks up stairs w/ alternating feet, rides tricycle

3 year milestone fine motor

dresses w/ help, uses fork, copies circle

3 year milestone language

says at least 3-word sentences, speech 75% intelligible

3 year milestone social/cognitive

knows age/sex, plays w/ other children

30 months milestone gross motor

jumps

30 months milestone fine motor

removes clothes, turns pages

30 months milestone language

says at least 50 words

30 months milestone social/cognitive

follows 2-step command, knows 1 color

2 year milestone gross motor

runs, kicks ball, walks up stairs

2 year milestone fine motor

uses spoon

2 year milestone language

says 2-word phrases

2 year milestone social/cognitive

knows 2 body parts, parallel play

18 month milestone gross motor

walks easily, climbs on/off chair

18 month milestone fine motor

scribbles, feeds w/ fingers

18 month milestone language

says at least words in addition to mama and dada

18 month milestone social/cognitive

follows 1-step command w/o gesture, imitates

15 month milestone gross motor

takes a few steps

15 month milestone fine motor

stacks 2 blocks

15 month milestone language

says 1 or 2 words plus mama and dada

15 month milestone social/cognitive

follows 1-step command w/ gesture, points to get something, shows affection

1 year milestone gross motor

pulls to stand, cruises

1 year milestone fine motor

pincer grasp

1 year milestone language

says mama and dada, understands no

1 year milestone social/cognitive

plays pat-a-cake, looks for hidden object

Glaucoma in children pathophysiology

optic neuropathy +/- increased IOP

Causes on increased IOP in glaucoma in children

impaired drainage of intraocular fluid, primary anatomic abnormaility (angle dysgenesis), Sturge-Weber syndrome, tumor, trauma, infection involving the angle, corticosteroid induced

Glaucoma in children key features

tearing, photophobia, blepharospasm, enlarged cornea or globe, optic nerve cupping, increased IOP on tonometry

Glaucoma in children management

surgery +/- pressure-reducing eye-drops

Fragile X syndrome inheritance

X-linked dominant, remember they exhibit self-injurious behavior like hand-biting

Signs concerning for pathologic microcephaly

neuro abnormalities like hypotonia and developmental delay, dysmorphic features, rapidly decreasing head circumference percentiles (ie curve crossing multiple major percentiles)

Maternal Risk factors for SIDS

substance use (cigs, alc, drugs)

Infant Risk factors for SIDS

prematurity or low birth weight, sleep environment (prone/side-sleep position, soft sleep surface, loose bedding, bed-sharing), smoke exposure

Dilated cardiomyopathy is a features of

Duchenne muscular dystrophy

Rett disorder epidemiology

greater incidence in girls, onset age 6-18 months

Rett disorder pathophysiology

initially normal development followed by loss of speech, loss of purposeful hand use, and gait abnormalities

Rett disorder additional findings

microcephaly, seizures, breathing abnormalities, sleep disturbance, autistic features

Rett disorder etiology

MECP2 gene mutations

Rett disorder neuropathology

deceleration of brain growth

Rett disorder prognosis

middle aged life expectancy, decreased mobility, seizures, resp difficulties

Tay-Sachs pathology

B- hexosaminidase A deficiency

Tay-Sachs epidemiology

AR, Ashkenazi Jews, onset 2-6 months old

Tay-Sachs clinial features

loss of motor milestones: hypotonia, feeding difficulties, cherry-red macula, hyperreflexia

Niemann-Pick Disease pathology

sphingomyelinase deficiency

Niemann-Pick Disease epidemiology

AR, Ashekensazi Jews, onset 2-6 months

Niemann-Pick Disease clinical features

loss of motor milestones, hypotonia, feeding difficulties, cheery-red macula, hepatospenomegaly, areflexia, fatal by age 3

Subgaleal hemorrhage location

btw periosteum and gala aponeurotica

Subgaleal hemorrhage clinical features

can expand over days, soft, fluctuant, diffuse, crosses sutures, +/- overlying bruising

Subgaleal hemorrhage prognosis

can cause life-threatening blood loss

Cephalohematoma location

subperiosteal (btw skull and periosteum)

Cephalohematoma clinical features

present hours after birth, firm, nonfluctuant, does not cross sutures, overlying skin is normal, forceps or vacuum assisted delivery increases risk

Cephalohematoma prognosis

increased hyperbilirubinemia risk, resorbs within a month

Caput succedaneum location

subcutaneous

Caput succedaneum clinical features

present at birth, soft and boggy, crosses sutures, overlying skin is normal

Caput succedaneum prognosis

self-resolves in days

You can also see periungal fibromas in a pt w/

tuberous sclerosus complex

Wilson disease pathogenesis

AR mutation of ATP7B --> hepatic copper accumulation --> leak rom damaged hepatocytes --> deposits in tissues (basal ganglia, cornea)

Wilson disease clinical findings

Hepatic: acute liver failure, chronic hepatitis, cirrhosis

Neuro: parkinsonism, gait disturbance, dysarthria

Psych: depression, personality changes, psychosis

Wilson disease Dx

decreased ceruloplasmin and increased urinary copper excretion, kayser-fleischer rings on slit lamp exam, increased copper on liver biopsy

Wilson disease treatment

chelators (D-penicillamine, trientine), zinc (interferes w/ copper absorption)

Ataxia-telangiectasia

AR disorder where defective DNA repair results in cerebellar ataxia, oculocutaneous telangiectasias, and recurrent sinopuml infection. Lymphoid tissue is often small/nonpalpable due to lymphopenia

Gastroesophageal reflux pathogenesis

immature lower esophageal sphincter

Gastroesophageal reflux clinical findings

spit up, normal weight gain, no pain/back-arching

Gastroesophageal reflux management

upright positioning after feeds, burping during feeds, frequent, small volume feeds, vitamin D, supplements

Beckwith-Wiedemann syndrome is associated with

omphalocele

Mild dehydration

presents w/ history of decreased intake or increased fluid loss w/ minimal or no clinical symptoms

Moderate dehydration

presents w/ decreased skin turgor, dry mucous membranes, tachycardia, irritability, a delayed capillary refill (2-3 seconds) and decreased urine output

Severe dehydration

presents w/ cool, clammy skin, delayed capillary refill, (>3 seconds), cracked lips, dry mucous membranes, sunken eyes, sunken fontanelle (if still present), tachycardia, lethargy, and minimal or no urine output. Pts can present w/ hypotension and signs of shock

Eosinophilic esophagitis pathogenesis and epidemiology

Th2-mediated inflammatory response triggered by food antigen exposure, comorbid atopy (asthma, eczema, food allergy, allergic rhinitis) common

Eosinophilic esophagitis presentation in toddler

feeding difficulties (solid food refusal), weight loss

Eosinophilic esophagitis presentation in school-aged children

abdominal pain, vomiting

Eosinophilic esophagitis presentation in adolescents

dysphagia, heartburn, food impaction

Eosinophilic esophagitis Dx

endoscopy and esophageal biopsy (eosinophils: at least 15/hpf), exclusion of alternate Dx (achalasia, infection)

Eosinophilic esophagitis treatment

elimination from diet, PPIs, topical glucocorticoids, feeding therapy

Hirschsprung disease

typically presents in neonates w/ decreased stooling, increased rectal tone, and signs of intestinal obstruction (bilious emesis, abdominal distention, dilated bowel loops). Contrast enema is performed to identify the level of obstruction

Shiga toxin-producing E. coli pathogenesis

ingestion of contaminated/undercooked beef or contact w/ farm animals, invasion of intestinal epithelial cells, production of toxin

Shiga toxin-producing E. coli clinical features

watery to bloody diarrhea within 3 days, NO high fever

Shiga toxin-producing E. coli Dx

multiplex stool PCR testing, stool toxin assay, stool culture

Shiga toxin-producing E. coli management

supportive care (aggressive fluids), avoidance of antibiotics and antidiarrheals

Shiga toxin-producing E. coli complications

HUS (may develop 1-2 weeks after diarrhea onset)

Campylobacter gastroenteritis epidemiology

most commonly transmitted via undercooked poultry

Campylobacter gastroenteritis clinical features

fever, abdominal pain, diarrhea (mucoid +/- blood), pseudoappendicitis (RLQ pain due to acute ileocecitis)

Campylobacter gastroenteritis treatment

supportive care (sx usually self-limited <7 days)

Campylobacter gastroenteritis treatment

abx only in severe of high-risk cases

Campylobacter gastroenteritis complications

Guillan Barre syndrome, reactive arthritis

Meconium Ileus pathophysiology

inspissated stool causes obstruction at terminal ileum, strong association w/ CF

Meconium Ileus clinical features

failure to pass meconium within 24hrs of birth, abdominal distention, no stool in rectal vault, +/- bilious emesis

Meconium Ileus work-up

X-ray: dilated loops of small bowel

Contrast enema: microcolon

dx eval for CF via sweat test

Meconium Ileus treatment

hyperosmolar enema, +/- surgical management

Infant dyschezia resolves spontaneously by age

9 months

Management of necrotizing enterocolitis immediate interventions

discontinuation of enteral feeds, nasogastric decompression, blood cultures, and empiric abx, IV fluid repletion

Management of necrotizing enterocolitis monitoring

serial CBC and electrolytes, serial abdominal exams and imaging

Management of necrotizing enterocolitis indications for surgery

bowel perf, clinical deterioration, despite medical management (suggestive of bowel necrosis)

Management of duodenal atresia

discontinue enteral feeds, NG tube decompression, and surgical repair

Cyclic vomiting syndrome history

personal or family hx of migraines, episodes often have identifiable trigger (infection, stress)

Cyclic vomiting syndrome symptoms

stereotypical vomiting episodes: acute onset of nausea, abdominal pain/headache, vomiting, self-limited, lasting 1-2 days

btw episodes: usually asymptomatic, often regular intervals (2-4 weeks)

Neonatal sepsis etiology

group B strep, E. coli, listeria (age <7 days)

Neonatal sepsis clinical features

temp instability (fever, hypothermia), CNS signs (lethargy, irritability, apnea), poor feeding, resp distress (tachypnea, grunting), jaundice

Neonatal sepsis evaulation

inflammatory markers (CRP, ANC, procalcitonin), blood, urine, and CSF cultures

Neonatal sepsis treatment

parenteral abx (ampicillin and gentamicin)