Peds Flashcards
galactosemia
failure to thrive, feeding intolerance, cataracts, jaundice, hypoglycemia, hepatomegaly, convulsions
galactose-1-phosphate uridyl transferase deficiency
these pts are at increased risk for E coli neonatal sepsis
consequences if early dx is not made –> irr liver cirrhosis and mental retardation
treat with elimination of galactose from diet
- cataracts may regress, eyesight is improved or normal
v. s. pts with galactokinase deficiency - cataracts ONLY
developmental milestones
gross motor: 2-4-6-9-12 mo
- lifts head –> sits with trunk support, rolls –> sits, crawls –> pulls to stand, cruises –> walks
- 18 mo - walks up and down stairs, throws ball, jumps
- 2 yrs - runs, kicks ball
- 3 yrs - tricycle
fine motor: always tracking
- at 6 mo - transfers hand to hand, raking grasp –> 3 finger pincer, holds bottle –> 2 finger pincer
- 18 mo - tower, scribbles, cup and spoon
- 2 yo - draws line
- 3 yo - draws circle, feeds self without help
language: 1-4 yrs of age
- babbling at 6 mo –> mama, dada –> more words
- 2-year old - 2-word phrases, vocab > 50 words, stranger should be able to understand 1/2 of child’s speech
social cognitive
- 2 mo - social smiler, recognizes parnts
- 6 mo - stranger anxiety (even when parents are around)
- 9 mo - waves bye, patty cake
- 12 mo - separation anxiety, comes when called, searches for hidden objects
- 18 mo - temper tantrums, imitates
- 2 yrs - parallel play, - NORMAL to show deficiance (as they are becoming more independent)
- 3 yrs - associative play, toilet trained
- toddlers - imaginative and cooperative play
newborn neuro
cephalohematoma - subperiosteal hemorrhage, limited to surface of one bone
- swelling wont be visible until several hrs after birth (because this is a slow process
- most resolve spontaneously
caput succedaneum - ecchymotic swelling of scalp, involves portion of head presenting vertex during delivery
- may cross suture lines
craniomeningocele - pulsations, increased pressure on crying, bony defects
ICH in neonates - apnea, pallor or cyanosis, poor suckling, abnormal eye signs, high-pitched cry, muscular twitching, convulsions, decreased muscle tone/paralysis, decreased Hct, metabolic acidosis, shock
depressed skull fractures - due to forceps delivery or fetal head compression
breastfeeding failure jaundice v.s. breast milk jaundice
normal: infants pass meconium in the first 2d –> yellow-green stool if ingesting adequate milk
- inadequate stooling –> decreased bili elimination and increased enterohepatic circulation (bili is primarily excreted through stool)
all newborns have mild unconjugated hyperbili due to high Hb turnover and immature hepatic uridine diphosphogluconurate glucuronosyltransferase (UGT) activity
breastfeeding failure jaundice - first week of life
- lactation failure –> decreased bilirubin elimination, increased enterohepatic circulation
- physical exam - suboptimal breastfeeding and signs of dehydration (brick-red urate crystals in diaper)
breast milk jaundice
- starts at 3-5d, peaks at 2 wks
- high levels of b-glucuronidase in breast milk deconjugate intestinal bili and increase enterohepatic circulation
- physical exam - adequate breastfeeding and normal exam
phototherapy based on nomogram, exchange transfusion when t bili >25 or for infants with neuro dysfunction
- choreoathetoid CP/ diplegic - affects legs
infantile hypertrophic pyloric stenosis
“hungry vomiter”
onset at 3-5wks age
risk factors - first-born boy, erythromycin, bottle feeding
tx - 1) IV rehydration (and normalization of electrolytes)
2) pyloromyotomy
bilious emesis in neonate
full-term infants will pass meconium within first 48hrs of life
1) AXR - to id pneumoperitoneum
2) constrast enema
- -> microcolon - meconium ileus (PATHOGNOMONIC for CF), obstruction in terminal ileum –> colon becomes underused and contracted –> give gastrograffin enema (hyperosmolar) –> if that fails proceed to surgery
- -> transition zone showing narrow rectosigmoid and dilated megacolon = Hirschsprung
- Hirschsprung - affected segment cant relax…
intestinal malro - severe bilious emesis and hypovolemic shock
- get UGI series
- will be at level of duodenum –> no gas in abdomen
foreign body ingestion/aspiration
ASPIRATION:
sudden-onset respiratory distress
- most will be in R mainstem bronchus
- focal wheezing (v diffuse in asthma) and diminished aeration on affected side
- hyperinflation (air trapping) or atelectasis on affected side
bronch
INGESTION:
in esophagus + symptomatic - remove
- battery in esophagus - remove (distal to esophagus, observe until it passes)
coin in esophagus + asx –> observe for 24hrs
caustic ingestion - laryngeal, esophageal damage, gastric damage
- steps - 1) secure airway (ABCs), 2) decontaminate (remove contaminated clothing, visible chemicals, irrigate exposed skin), 3) EGD in 24hrs (investigate extent of injury)
- any intervention (NG, lavage) that could provoke vomiting should be AVOIDED
advantage of human milk
breastfeed until 6 mo of age
- introduce pureed foods at 6 mo
- solid foods and breastfeeding until age 1
milk is 70% whey, 30% casein - whey helps to improve gastric emptying
- absorption of Ca and Phos is better from human milk
- main carb is lactose
- also contains lactoferrin, lysozyme, IgA to confer immunity
- also associated with less reflux and colic than formula
- -> colic = prolonged periods of inconsolable crying, peaks around 2 mo
breast milk is a poor source of vitamin D - infants must be supplemented
breastfeeding benefits - immunity (IgA based), decreased of childhood cancer/type 1 DM/NEC
maternal benefits
- more rapid uterine involution
- faster return to prepartum weight
- improved mat-infant bonding
- reduced risk of ovarian and breast cancer
contraindications to breastfeeding - Tb, HIV infection, herpetic breast lesions, recent varicella infection, chemoradiation, drug abuse
nocturnal enuresis
most children begin toilet training > 2yo
- premature initiation of toilet-training can prolong the duration of training
bedwetting before age 5 is normal
- daytime continence mastered within mo
- nighttime continence is difficult to achieve
- encouragement and positive reinforcement
incontinence < 15% at age 5 (<1-2% at age 15)
- get UA for kids older than 5 - screen for UTI, DM, DI
- conservative measures
- enuresis alarm - take 3-4 mo to be effective
- desmopressin
chronic constipation can reduce bladder capacity - contributes to urinary incontinence
- abd xray if you suspect constipation
secondary enuresis causes (enuresis after > 6 mo of dryness) - psych, UTI, DM, DI (uncommon in kids), OSA
- OSA - due to impaired sleep arousal
neonatal conjunctivitis
chemical < 24hrs
- mild conjunctival irritation and tearing after silver nitrate ophthalmic ppx
- tx - eye lubricant
1) gonococcal - week 1 of life
- marked eyelid swelling, profuse purulent discharge, corneal edema/ulceration
- intracellular diplococci, culture on Thayer-Martin agar is gold std for dx
- all infants should receive ppx - topical erythromycin after birth within an hr of birth (regardless of mat status)
- tx - single IM dose of rocephin
- prevention with erythromycin ointment
2) chlamydial - week 2 of life
- mild eyelid swelling
- watery, serosanguinous, mucopurulent d/c
- untreated infection can lead to corneal scarring
- PCR required for confirmatory dx
- tx - po macrolide (monitor infants for pyloric stenosis, side effect)
gonococcal conjunctivitis is more severe than chlamydial
GBS
sepsis, pneumonia, or meningitis in first 24-48hrs of life
intrapartum abx ppx
neurofibromatosis
NF1 - AD
- codes the protein neurofibromin
- C17
- skin findings - cafe au lait spots first
- with increasing age - axillary/inguinal freckles, Lisch nodules, and neurofibromas become significant
- optic glioma - get MRI brain and orbits
- -> usu asx but can cause decreased visual acuity and proptosis
NF2
- codes the protein merlin
- C22
- bilateral acoustic neuromas - audiometry
tuberous sclerosis
neurocutaneous syndrome
intracranial tumors - cortical hamartomas, subependymal astrocytomas, central precocious puberty
ash leaf spots - hypopigmented macules
facial angiofibromas, cardiac rhabdomyomas, renal angioleiomyomas
mental retardation and seizures
DiGeorge syndrome
truncus arteriosus
transposition of great arteries (kids appear relatively comfortable)
hypocalcemia
failure to thrive
recurrent infections
seborrheic dermatitis
peaks in infancy and adult hood
- cradle cap
erythematous plaques/yellow greasy scales
- on skin folds - scalp, face umbilicus, diaper area
- Malassezia species
tx - spont resolution is common, otherwise
1) emollient, nonmedicated shampoos
2) topical antifungals, low-potency glucocortioids
other rashes
- atopic dermatitis (rash that itches?) - rash on face, trunk, extensor surfaces, severe pruritis
- contact dermatitis
- psoriasis - extensor surfaces, oval plaques
- tinea capitis - pruritis, white scales, looks like seborrheic dermatitis (but will not occur in first year of life)
microcytic anemia
Fe deficiency - low MCV
- low retic count
- most common nutritional deficiency in infants - due to introduction of animal milk before age 1 and from inadequate consumption of Fe-rich foods
- older children and adults - due to GI blood loss
thalassemia - very low MCV
- Fe is high, ferritin is high due to high blood cell turnover
anemia of chronic disease - nl-low MCV
- Fe is low
- ferritin is nl-high
- decreased TIBC
autoimmune hemolysis - increased retic count due to bone marrow response
- indirect hyperbili (unconjugated)
sideroblastic anemia - increased serum Fe, normal TIBC
back pain in kids
requires careful search into cause
spondylolisthesis - stress fracture and sliding of vertebrae
- usu L5 over S1
- chronic back pain and neuro dysfunction (incontinence, decreased perianal sensation)
rhinosinusitis
acute bacterial rhinosinusitis, features:
- persistent sxs >10d
- severe sxs, fever > 39, purulent nasal discharge, face pain
- worsening sxs >5d after initially improving viral URI
most common predisposing factor is viral URI
for periorbital edema, vision abnormalities, AMS –> get CT (sinus xrays are less sensitive)
tx - augmentin (covers S pneumo and H flu)
- if sxs persist/worsen despite tx –> cultures by sinus aspiration
autism
deficits in social communication and interactions
restricted, repetitive patterns of behavior
- can have head banging and temper tantrums
- very specific interest
may or may not have language and intellectual impairment
tx
- early diagnosis and intervention
- comprehensive, multimodal therapy
- pharm for psychiatric comorbidities
other syndromes with autism
- Fragile X - seizures, macrocephaly, hypotonia, long face, large ears
limping kid
Legg-Calve-Perthes - insidious pain
- idiopathic avascular necrosis of the femur
- younger boys
- initial xrays may be normal
- eventually - can get thigh atrophy and Trendelenburg sign (weak hip goes up)
- tx - non-weight bearing, splinting, possible surgical repair
SCFE = displacement of femoral head due to disruption of proximal physis
- obese adolescent boys - physis weakens during early adolescence due to rapid expansion, will slip when exposed to excessive shear stress
- tx - URGENT surgical pinning of femoral head
untreated developmental dysplasia - limp and hip pain, leg length discrepancy
- RFs - breech, female, white, fhx, excessively tight swaddling
- get US of hips if under 4 mo, xray if older
- Pavlik harness
precocious puberty
early secondary sexual development
<8 girls, <9 boys
- obese children are at increased risk - triggers excess insulin production –> stimulates adrenal glands –> sex hormone production
1) advanced bone age
- low basal LH –> GnRH stimulation test –> low LH –> peripheral precocious puberty (McCune Albright, non-classical CAH)
- low basal LH –> GnRH stim test –> high LH –> central precocious puberty
- high basal LH –> central precocious puberty
central precocious puberty - hypothalamic glioma, pituitary hamartoma, idiopathic precocious puberty, tuberous sclerosis
- for idiopathic precocious puberty - give GnRH AGonist
McCune Albright - peripheral precocious puberty (LOW FSH and LH)
- also irregular cafe au lait spots, fibrous dysplasia of bone
non-classical (no salt wasting) peripheral precocious puberty - metabolites shunted to adrenal production
- classic - infancy, salt-wasting, virilization
- non-classic - late-onset, premature pubarche/adrenarche + advanced bone age
2) normal bone age
- isolated breast development = premature thelarche
- isolated pubic hair development = premature adrenarche (adrenal androgens)
granulosa cell tumors - usu in middle-aged women with an ovarian mass (+ bleeding)
- estrogen producing tumor - so for girls (rare), could present as early breast development and menses
- tx - removal
hypertrophic cardiomyopathy
more common in AAs, AD inheritance
dual upstroke carotid pulse
- midsystolic obstruction
- significant LVOT - SEM
puberty in boys
gynecomastia occurs in up to 2/3 of pubertal boys
- can be tender
- will resolve in few mo - 2yrs
- evaluate for other causes in persistent gynecomastia
increased estrogen production/peripheral conversion
- testicular, adrenal, or HCG producing tumors
- cirrhosis or malnutrition
- thyrotoxicosis
- congenital excessive aromatase activity
- androgen use
- drugs - spironolactone, cimetidine, herbals (tea tree oil, lavender oil)
androgen deficiency
- hypogonadism (testicular size < 3mL) - Klinefelters, testicular damage
- hyperprolactinemia
- renal failure
congenital heart disease
L–> R - tachypnea, poor weight gain, sweating with feeds
- VSD, ASD, isolated PDA
R–> L - cyanosis (also sweating with feeds)
- transposition of great vessels
- Tet of Fallot
- tricuspid atresia
- anomalous pulmonary venous return
- truncus arteriosus
- hyperoxia test: cyanosis –> trial of 100% O2 –> if infant/child fails to improve –> think congenital heart defect
interrupted left ventricular ouptut - pallor or shock, severe acidosis
- coarctation of aorta
- hypoplastic left heart syndrome
in many cases - pulmonary blood flow or aortic comes from PDA rather than RV –> when PDA starts to close (day 3) –> infant becomes more cyanotic –> give PGE1
note: acrocyanosis is normal in infants
lymphadenitis
acute unilateral lymphadenitis - usually bacterial
- 1) S aureus, 2) GAS
- children will be non-toxic
tularemia - can present with acute unilateral cervical LAD
- affected children have systemic sxs
- contact with animals
in kids with perio-odontal disease - acute unilateral lymphadenitis due to peptostreptococcus
non-tb mycobacteria - unilateral subacute-chronic LAD
- overlying skin thins and becomes violaceous
EBV - bilateral subacute-chronic LAD
- plus fever, exudative pharyngitis, HSM (and transient hepatitis), atypical lymphocytosis
- dx - positive heterophile antibody (monospot, 25% false negative during first week of illness)
- complication - acute airway obstruction due to enlarging tonsils (give corticosteroids)
respiratory tract infections in children
croup (laryngotracheitis) - parainfluenza
- age 6 mo - 3 yrs, low O2 sats
- upper airway obstruction - stridor (inspiratory, becomes inspiratory and expiratory in very severe cases), hoarse voice
- steeple sign (subglottic edema)
- mild - humidified air and corticosteroids x1
- severe - give dexa and racemic epi - to reduce edema
bronchiolitis - RSV (in older kids, RSV is a self-limiting URI)
- <2yrs
- runny nose, wheezing, and coughing, RDS
- tx - supportive care
- prevention - palivizumab for infants who are <29 premie, chronic lung disease of prematurity, hemodynamically significant congenital heart disease
- complications - apnea, respiratory failure, recurrent wheezing throughout childhood, associated with increased risk of otitis media
diphtheria - grey-colored pseudomembrane
when would you need to secure an airway - 1) intubate, 2) trach:
epiglottitis - H flu
- unvaccinated children
- high fever, sore throat, dysphagia, tripod
- thumb sign - swollen epiglottis
retropharyngeal abscess - high fever, muffled voice, limited neck rotation (due to pain)
- widened prevertebral space
sturge-weber syndrome
ID, seizures, visual impairment due to capillary-venous malformations
port-wine stain in trigeminal distribution
necrotizing enterocolitis
risk factors - prematurity, low birth weight, reduced mesenteric perfusion (hypotension, congenital HD), enteral feeds (formula > breast milk)
- formula and milk are substrates for bacterial proliferation –> when milk is not absorbed –> bacterial fermentation, inflammation, translocation of bacteria and gas into bowel wall
- TI and colon are most commonly affected
bloody stools, abd distention
xray - pneumatosis intestinalis (pathognomonic), portal venous gas, pneumoperitoneum
labs - metabolic acidosis (lactate), leukocytosis
tx - supportive care (bowel rest, IVFs)
- BS IV abx
- +/- surgery
complications - septic shock, intestinal strictures, short bowel syndrome, death
vs milk protein enterocolitis - bloody stools, which will occur in a healthy infant 2-8 wks after sensitization to milk protein
helminth infection
aka pinworm
perianal pruritis - at NIGHT
- vulvovaginitis
eggs on tape test
tx - albendazole or pyrantel pamoate for pt and all household contacts
trichotillomania
hair-pulling disorder (has nothing to do with eating the hair)
- pts attempt to stop (but are unable to)
- rule out medical and psych conditions first (body dysmorphic disorder)
tx - CBT (habit reversal training)
trichophagia - swallowing of hair
acute abdominal/pelvic pain in women
ectopic - 1) urine hcg
2) transvaginal US
- risk factors are tubal damage - prior ectopic, hx of PID, prior tubal
ovarian torsion - sudden-onset
ruptured ovarian cyst - sudden onset
PID
impetigo
risk factor - poor hygiene, humidity
handwashing for prevention - contagious infection
non-bullous:
S aureus, GAS (S pyogenes)
- honey-crusted lesions (non-pruritic)
- pts with underlying skin problems (eczema, abrasion) are at increased risk
bullous - S aureus
- rapidly enlarging flaccid bullae
- scale at ruptured lesions
both: topical abx (mupirocin) for limited disease, keflex for extensive skin involvement
complications - PSGN
erysipelas
small erythematous patch –> red, indurated, tense, shiny plaque
- raised, sharply demarcated margin
overlying skin streaking and regional LAD - indicates lymphatic involvment
vitamin deficiencies
B1 - beriberi (peripheral neuropathy, heart failure), Wernicke-Korsakoff syndrome
pellagra/B3 deficiency - diarrhea, dermatitis (in skin exposed areas, looks like a sunburn), dementia (mental status changes…poor concentration, irritability), death
- can also have glossitis
- common in developing countries (diet is primary of cereal/corn), IBD
riboflavin/B2 - seborrheic dermatitis (often affecting genitals), pharyngitis, edema/erythema of mouth
- normochromic anemia
pyridoxine/B6 - irritability, depression, stomatitis, dermaitis
- can also cause elevated homocysteine (known atherosclerotic risk factor)
B12 - macrocytic anemia, p. neuropathy
vitamin D - risk factors are increased skin pigmentation, exclusive breastfeeding
- ping-pong ball skull, delayed fontanel closured, frontal bossing, rachitic rosary, wrist widening (long-bone joints), genu varum
- labs - ca and phos close to normal, alk phos very elevated, PTH elevated, vitamin D down
Lyme disease
erythema chronicum migrans = target lesion
- and nonspecific constitutional sxs
in wks-mo
- multiple erythem amigrains
- bells palsy (unilateral or bilateral)
- meningitis
- carditis (AV block)
- migratory arthralgias
late - mo-yrs
- arthritis (will have leukocytosis and neutrophils), encephalitis, p. neuropathy
confirm dx with ELISA and Western blot
tx - doxcycline is often used (because it is effective in treating a coexisting infection that is carried by the same tick)
- BUT doxy is contraindicated in pts <8 and pregnant women –> give oral amox instead
tetralogy of fallot
1) RVOT (pulm stenosis or atresia)
2) RVH
3) overriding aorta
4) VSD
crescendo-decrescendo SEM
and single heart sound (because pulm S2 is inaudible)
- murmur becomes louder, cyanosis improves during squatting
knee-chest - increases SVR
- inhaled O2 - stimulates pulmonary vasodilation, decrease PVR and systemic vasoconstriction
- IVFs improve RV filling and pulmonary flow
Digeorge and DS
hemophilia (A and B)
XR
clinical features - prolonged bleeding after mild trauma
- joint, muscle, GI, GU bleeding
lab findings - prolonged PTT
- normal plts, bleeding time, PT
- decreased or absent factor 8 (A) or 9 (B)
tx - administration of missing factor
- desmopressin for mild hemophilia A
complications/consequences
- hemophilic arthropathy - late complication, due to Fe/hemosideran deposition –> synovitis and fibrosis of joint
- -> px as chronic worsening joint pain and swelling, limited ROM
Wilms tumor
proliferation of metanephric blastema
most common renal malignancy in childhood
- 4th most common childhood cancer
- usu sporadic
- can be syndromic - WAGR (Wilms, aniridia, GU abnormalities, retardation), Beckwith-Wiedemann syndrome, Denys-Drash syndrome
smooth firm abd mass that does not cross midline (vs neuroblastoma, will does cross the midline, and will have sxs)
- lungs are the most common site for mets
dx - abd US –> constrast CT
tx - tumor excision or nephrectomy, chemo, +/- rads
- 5 yr survival rate is 90%
pertussis
HIGHLY contagious, respiratory droplets
1-2 wks - mild cough, rhinitis
2-6 wks - cough with whoop (post-tussive emesis)
wks-mo - symptoms resolve gradually
dx - pertussis culture or PCR, lymphocyte-predominant leukocytosis
tx - macrolides (to reduce disease duration or transmission, depending on when in disease you give it)
- ppx for close contracts with a macrolide (regardless of immunization status)
avoid OTC antitussives - because of lack of proven efficacy and risk of tox in kids < 6yrs
prevention - vaccine
- DTaP given during pregnancy and early childhood (5 doses spread out)
- Tdap booster in adolescence
- vaccines dont provide lifelong immunity
subQ emphysema in kids - severe cough –> high intraalveolar pressure –> air leaks, pneumothorax –> get CXR
osteogenesis imperfecta
type 1 collagen gene defect
- skin, sclera, bone, tendon, ligament disorders (+hearing loss)
note Marfans (AD) is a fibrillin-1 gene defect
- aortic root dilation (diastolic murmur)
- vs homocystinuria - ID…
- vs Ehlers Danlos - not tall
VUR
graded by dilation
1 - nondilated ureter
2 - into pelvis and calcyes without dilation
3 - mild-mod dilation of ureter, pelvis, and calcyces
4 - moderate
5 - gross dilation of ureter, pelvices, and calyces, loss of papillary impressions
consequence - renal scarring
dx - voiding cystogram (VCUG)
- kids with first UTI at age 2-24 mo –> renal and bladder US
- get VCUGs in kids with recurrent UTIs
pityriasis rosea
viral prodome
annular pink herald patch on trunk –> oval lesions in Christmas tree pattern (along lines of tension)
- pruritus
tx - reassurance (spont resolution), antihistamines for pruritus
rashes in kids
erythema multiforme - infection, medication
eczema (atopic dermatitis) - very itchy
- nummular eczema
- infants - very itchy, on trunk, cheeks, and scalp
- child/adult - lichenified plaques in flexural creases
- tx - emollient and steroid ointment
- complications - eczema herpitcium (superinfection), cellulitis/absces
erythema marginatum - ring-like rash, comes and goes
- acute rheumatic fever (JONES criteria)
tinea - central clearing with raised borders
- Dr. Kalan:ringworm vs eczema - ringworm will have central clearing, tx with clomitrazole
- ringworm is a fungal infection
erythroderma - exfoliative dermatitis, >90% of body
scabies - pruritic papules folds/moist spaces
chickenpox - several stages of lesions
Tourettes
multiple motor and vocal tics, onset < 18 yo, lasts for 1 yr
tx - antipsychotics (second gen like risperidone are used due to fewer side effects)
- a2 adrenergic agonists (for mild disease, clonidine, guanfacine)
- behavioral therapy - habit reversal training, most effective
note - tourettes is often comorbid with adhd and ocd but they are not the same and are not treated with the same meds
cystic fibrosis (CF)
failure to thrive - kids will start on the growth curve and then fall off
respiratory (due to defective mucociliary clearance of secretions) - obstructive lung disease –> bronchietasis
- recurrent pneumonia
- chronic rhinosinusitis and nose bleeds (vitamin K deficiency)
- orgs: s aureus is the most common pathogenic org in young children (<20 yo), above age 20 pseudomonas dominates
- -> give cefepime (MSSA, pseudomonas), vanc (MRSA), IV if severe pneumonia
- -> amox does NOT cover S aureus (covers S pneumo)
- -> azithro covers atypicals
- -> cipro covers pseudomonas
GI - meconium ileus, distal intestinal obstruction syndrome
- pancreatic disease (due to duct obstruction) - exocrine pancreatic insufficiency, CF-related diabetes
(- pancreatitis is not on this list)
- biliary cirrhosis
reproductive - infertility (95% of men, due to congenital absence of vas deferens)
MSK - osteopenia, kyphoscoliosis, digital clubbing
CF v.s. Kartageners:
both have chronic sinopulmonary infections and nasal polyps (intranasal glucocorticoids, surgical resection)
primary ciliary dyskinesia - situs inversus, infertility, normal growth
CF - pancreas (ADEK def, poor growth), infertility, FTT
prenatal drug exposure
opiates - heroin and methadone
- increased risk of IUGR, macrocephaly, SIDs, neonatal abstinence syndrome (NAS)
- NAS - irritability, high-pitched cry, poor sleeping, tremors, sweating, tachy (withdrawal symptoms)
- -> can present a few days after birth (up to a mo after birth)
cocaine - jitteriness, excessive sucking, hyperactive Moro
- but sxs are not as severe as opiates
sunburn
SPF 15-30 15-30 min before sun exposure
- reapply every 2 hrs
- sunscreens above SPF 50 dont provide any increased UV protection
- avoid sunscreen in infants < 6 mo (because of thinner skin and high SA/BW ratio)
mild-moderate tx
- cool compresses, calamine lotion, aloe, NSAIDs
severe - hospitalize, IVFs and analgesia, wound care
random note - dark fabrics offer greater UV protection because the rays cant penetrate the fabric as well
hepatitis B
blood, sex, vertical transmission
key thing to look for - HBeAg indicates infectivity
- if pos - 95% infection risk
- if neg - 20% infection risk
for newborns with moms who have active hep B - give HBIG (for temp protection) then HBVax
90% of hep B in the newborn will progress to chronic hepatitis
hypopigmented rashes
Malassezia globosa - exposure to hot and humid weather
hypopigmented, hyperpigmented lesions
- surrounding skin will sunburn but spots wont sunburn
- may have fine scale/pruritus
dx - KOH prep will show spaghetti and meatballs pattern
tx - topical ketoconazole, terbinafine, or selenium sulfide
mycosis fungoides - also a hypopigmented rash
- may be an initial px of cutaneous T cell lymphoma
vitiligo - lesions are asymptomatic
Turners
premature ovarian failure -
ovarian dysgenesis –> low estrogen and progesterone –> absent thelarche, abnormal feedback to pituitary
- elevated FSH and LH
- GH will be normal - short stature is a result of loss of genes from X chromosome
- consequence of estrogen deficiency –> decreased bone mineral density
- give these girls estrogen replacement therapy
- gonadal dysgenesis is associated with 15-30% of malignancy - close surveillance and gonadectomy
coarctation of aorta, bicuspid aortic valve
- echo –> thoracic MRI
horseshoe kidney
congenital (nonpitting) lymphedema - abnormal development of the lymphatic network
–> cystic hygroma
measles
airborne (negative pressure room, N95 mask)
cough, coryza, conjunctivitis, fever, Koplik spots
- NEXT maculopapular exanthem - spares palms/soles (fever still concurrent)
dx - PCR
- anti-measles IgM and IgG
tx - supportive, vitamin A for hospitalized pts (vitamin A def is assoc with increased morbidity with measles infection)
complications - otitis media, pneumonia, encephalomyelitis (wks), subacute sclerosing panencephalitis (yrs)
MMR vaccine (x2 doses at ages 1 and 4)
- vaccine-strain (live attenuated) - can cause a mild self-limiting case of measles within 1-3 wks
- avoid contact with immunocompromised (no need for airborne precautions)
v. s roseola - rash appears as fever subsides
rubella = 3d measles, lower fever, (no arthritis)
mumps
unimmunized children
fever, parotitis (bilateral, facial swelling)
self-limited
- but can lead to aseptic meningitis, orchitis
non-traumatic joint swelling
infectious - acute, constant, painful, elevated WBC/plts and inflammatory markers
inflammatory/rheum - subacute-chronic = systemic-onset juvenile idiopathic arthritis
- worse in morning
+ morning fevers, rash
- able to bear weight, common in multiple joints
- WBC/plts and inflammatory elevated, low RBC (anemia of chronic disease), thrombocytosis, hypergammaglobulinemia, hyperferritinemia (acute phase reactant)
- uveitis is a common complication
- tx with NSAIDs, glucocorticoids, biologics
reactive arthritis
- few weeks after an enteric (campy, shigella) or chlamydial infection
- asymmetric inflammatory arthritis, urethritis, conjunctivitis, uveitis
neoplastic (ALL)- subacute-chronic
- worse at evening/night
- low WBC/plts
non-inflammatory - OA
- clear, low WBC count
inflammatory - crystals, RA
- translucent, opaque
- corticosteroid shot
septic joint
- opaque fluid, 50-150K WBC, majority PMNs
- get BCs and aspirate joint
- most common orgs are s aureus and strep –> IV vanc for empiric tx and surgical drainage (delayed of debridement for even 4-6 hrs can lead to femoral head necrosis)
- gram stains can be falsely negative if pt has been pretreated with abx
- birth - 3mo - staph, GBS, gram negative bacilli (anti-staph + gent or cefotaxime)
- older than 3 mo - staph, GAS, S pneumo (naf, clinda, cefazolin, vanc)
low cell lines
aplastic anemia
- causes - drugs (NSAIDs), toxic chemicals (glue), idiopathic, viral infections (HIV, EBV), immune disorders, thymoma, fanconi anemia (chromosomal breaks, DNA repair genes)
- bone marrow bx essential for dx - will show decreased cell lines (all) and fatty infiltration of the marrow
Fanconi’s anemia - pancytopenia, congenital abnormalities
- px at 4-12 yrs of age
- short stature, microcephaly, abnormal thumbs, hypogonadism
- skin - abnormal pigmentation/spots
- strabismus, low-set ears, middle ear abnormalities
- definitive tx is bone marrow transplant
Diamond-Blackfan anemia - congenital pure red cell aplasia
- presents in first 3 mo of life with pallor and poor feeding
- anemia with low retics
- congenital anomalies
transient erythroblastopenia - acquired red cell aplasia that occurs in healthy children
leukemia - pancytopenia because of crowding out of normal bone marrow
- leukocytosis
- ALL- predominant type of leukemia from ages 2-10yrs
- -> infections, LAD, HSM (due to extramedullary leukemic infiltration)
- -> dx - >25% blasts in bone marrow, PAS positive, TdT positive (on pre-lymphoblasts)
- -> imatinib - tyrosine kinase
torticollis
firm palpable “mass” = SCM
- flattening of head (positional plagiocephaly) - common consequence
risk factors - crowding in uterus, positioning issues (developmental dysplasia of hip, metatarsus adductus, clubfoot)
tx - tummy time, passive stretching, physical therapy
Kallman syndrome
XR
anosmia/hyposmia
no GnRH secretion
female - no breast development, primary amenorrhea, no body hair
male - no body hair, small phalus and testicles
tx - hormone treatment
adhd
inattentive or hyperactive sxs > 6 mo
- kids can get in trouble, lose friends due to intrusive behavior (rejection, teasing)
- several sxs present before age 12
- sxs in 2 settings
tx
- stimulants - methylphenidate, amphetamines
- nonstimulants - atomoxetine, a2 adrenergic agonists
- behavioral therapy
vaccinations
administration of multiple vaccines at one visit is safe
- UNLESS it is a live attenuated vaccine - administer those 4 wks apart (due to possible interference by immune response)
give vaccines based on chronological age (vaccination of premies is safe)
hepB= birth and 2 mo
2-4-6 mo - rotavirus, DTaP, H flu, pneumococcal, inactivated polio
1 yr - MMR, varicella
meninogococcal - 11 and 16 yo
rotavirus - 2-8 mo, live attenuated
- rotavirus - most common cause of gastroenteritis (watery osmotic diarrhea) in infants and young children
- fecal-oral
- contraindications - …hx of intussusception, hx of uncorrected congenital malformation of GI tract (Meckels diverticulum), SCID
peds abdominal wall defects
umbilical hernia - age 5
gastrochisis - RIGHT of cord insertion (bowels)
- bowel is exposed to amniotic fluid –> causes inflammation and edema –> increased risk of complications and dysmotility
- immediate surgery after birth - NG tube and abx prior to surgery
- note - due to a vascular defect
omphalocele - midline defect (multiple organs)
- immediate surgery after birth
rheumatic fever
in kids older than 3 (due to anatomy/micro)
strep pharyngitis + arthritis –> 2-4 wks later –> acute rheumatic fever (JONES)
- joints - migratory arthritis (supportive care)
- O - carditis
- nodules - subQ
- erythema marginatum - pink rash with sharp edges
- sydenham chorea
- minor criteria
late sequelae - mitral regurg and stenosis
ppx for ALL (duration varies) - IM penicillin G q4wks
- goal is to prevent recurrent GAS pharyngitis
heart disease = mitral stenosis (loud first heart sound, mid-diastolic rumble)
rheumatic fever without carditis - 5 yrs or until 21 yo (whichever is longer)
rheumatic fever with carditis but no residual heart/valvular disease clinically or by echo - 10 yrs or until 21 yo (whichever is longer)
rheumatic fever with carditis and persistent heart or valvular disease - 10 yrs or until 40 yo old (which ever is longer)
for symptomatic mitral stenosis
- preload reduction by diuretics or nitrates
- can cause afib - bblockers, digoxin, warfarin
–> mitral stenosis –> atrial dilation, afib –> chronic pulm HTN
viral myocarditis
coxsackie, adenovrius
- direct viral injury, autoimmune inflammation –> myocyte necrosis
px - viral prodrome and signs of HF
- worsening dyspnea/respiratory distress, syncope, tachy, N&V, hepatomegaly, holosystolic murmur (dilated CM, functional mitral regurg)
dx
- CXR - cardiomegaly, pulm edema
- echo - decreased EF, diffuse hypokinesis
- send viral studies
endomyocardial bx is gold std
- for dx - inflammatory infiltrate with myocyte necrosis
tx - diuretics, inotropes
- send to ICU - monitor for fatal arrhythmias and shock
mortality is high, morbidity is cardiomyopathy/chronic heart failure
Kawasaki disease
- Reyes syndrome
fever for 5 d
- cervical LAD
- rash
- bilateral nonexudative conjunctivitis
- mucositis
- swelling/erythema of palms/soles
disease itself is self-limited BUT can result in coronary artery aneurysms
- so get echo at time of dx (and at 2-6-8 wks after)
give single high dose of IVIG (within first 10d of presentation)
- and ASA
Reyes syndrome:
ASA after flu or varicella infection
- ASA is a mitochondrial toxin
px - vomiting, abnormal behavior –> seizures and lethargy
features - acute liver failure, encephalopathy (kids will be in a coma, require intubation)
- elevated intracranial pressure is a major cause of death
histology - microvesicular steatosis
tx - supportive
pigmented lesions of childhood
cafe au lait - McCune-Albright, NF
congenital dermal melanocytosis (Mongolian spots) - blue-gray
- more common in Asians and AAs
- will spontaneously fade in first decade of life
congenital melanocytic nevus
- hairy, benign melanocyte proliferation
- transformation to melanoma increases with size - large lesions are removed surgically
nevus simplex and nevuxs flammeus (port-wine) - flat, blanchable, vascular birthmarks
strawberry/superficial hemangioma
- complications are rare - but give b-blockers
(- cherry - adults)
sickle cell disease
will present after 6 mo - when fetal Hgb disappears
baseline anemia - normocytic and normochromic
- but can get co-existing folate, other vitamin deficiencies because bone marrow tries too make too many blood cells
- if folate def - macrocytic anemia and LOW retic count
acute severe anemia (hyperhemolytic crisis, nl retics)
- aplastic crisis - secondary to parvovirus B19 infection, decreased retics
- splenic sequesteration (occurs in younger pts) - splenic vaso-oclusion (rapidly enlarging spleen) –> autosplenectomy (usu by age 5)
- -> retics will be increased - can lead to shock - because a large portion of the total blood volume is trapped in the spleen
vaso-occlusive crisis - dactylitis (sausage fingers)
- acute pain crises - hydration, analgesia, +/- transfusion
- prolonged priapism
avascular necrosis of femoral heads - progressive hip pain on weight-bearing
osteomyelitis - 1) Salmonella, 2) S aureus
- give anti-staph and ceftriaxone
pts with SCD are at increased risk for stroke
Howell-jolly bodies - nuclear remnant of RBCs (that spleen will normally remove)
maintenance
- vaccination - S pneumo, H flu, N meningitidis (if vaccinated kids present with sepsis - most likely will be S pneumo (non-vaccine serotypes))
- penicillin until age 5 - bid
- folic acid supplementation
- hydroxyurea for pts with recurrent pain crises (increases fetal Hgb, side effect is myelosuppression, macrocytosis)
Lesch-Nyhan
self-mutilating behaviors - biting fingers and tongue, dystonia, writhing movements, delayed motor development, nephrolithiasis, gout
XR - deficiency of hypoxanthine-guanine phosphoribosyl transferase (HPRT)
- involved in purine metabolism…increased levels of uric acid
allopurinol to reduce uric acid levels
neonatal polycythemia
hct > 65%
causes
- increased EPO from intrauterine hypoxia - mat DM or pre-eclamp (due to poor placental gas exchange), HTN, smoking, IIGR
- erythrocyte transfusion - delayed cord clamping (excess transfer of placental blood), twin-twin tranfusion
- genetic/metabolic disease - hypo/hyperthyroid, genetic trisomy
px - most are asx, ruddy skin, RDS, cyanosis, apnea
- hypoglycemia (increased uptake by RBCs), hyperbili
- increased blood viscosity impairs blood flow to various organs
tx - IVFs, glucose, partial exchange transfusion
note - dehydration can increase Hct but it is very unusual in term neonates in the first 2d of life
transient tachypnea of the newborn
common cause of respiratory distress
CXR - increased pulmonary vascular markings/fluid in fissures
- lungs have a little bit of fluid left in them (c-section baby, doesnt get the “squeeze”)
will resolve in 24hrs
primary humoral deficiencies
recurrent sinopulmonary infections with encapsulated bacteria
all have normal B cells except x-linked agammaglobulinemia
WHEN WOULD YOU GIVE IVIG:
x-linked agammaglobulinemia
- absence of lymphoid tissue on exam - small tonsils, LNs
- low B cells and immunoglobins, normal T cell concentration, no response to vaccinations
- tx - IVIG replacement therapy, ppx abx if severe
CVID - ADA deficiency (mainly affects B cells, T cell immunity normal)
- severe viral, fungal, and bacterial infections - respiratory and GI (giardia) infections, AI disease, chronic lung disease
- failure to thrive
- long-term IVIG (these pts have very low Ig levels, show no response to vaccination)
T CELL PROBLEMS:
SCID - severe T cell deficiency
–> leads to B cell dysfunction as well (CD3 T cells, CD19 B cells)
- recurrent viral, fungal, and opportunistic infections
- failure to thrive
- diarrhea
- tx - early stem cell transplant
hyper-IgM syndrome - XL, defective CD40 ligand
- CD40 ligand on T cells bind to CD40 receptor on B cells - responsible for class switching (IgM –> IgG, etc.)
- tx - abx ppx, interval administration of IVIG
IG DEFICIENCY:
(selective) IgA deficiency - most common primary immune deficiency
- usu asx, recurrent sinopulm and GI infections
- associated with autoimmune disease and atopy
- anaphylaxis during tranfusions
- tx - supportive care, medical alert bracelet
IgG subclass deficiency
OTHER:
complement deficiency - encapsulated (S pneumo, N menin)
- CH50 assay
CGD - impaired oxidative burst –> chronic granulomatous disease, catalase pos orgs (S aureus, Serratia, Aspergillus)
- infected LN - numerous organism filled neutrophils
- dihydrorhodamine test, nitroblue test
- need lifelong antimicrobial ppx
- IFN gamma (immunomodulator) helps
HIV infection should be excluded
transient hypogammaglobulinema of infancy - low serum IgG levels due to cessation of breast feeding
- counts will return to normal by age 12 mo
trisomies
DS:
complete AV septal defect is the most heart defect
- failure of endocardial cushions to merge
- volume overload and excessive pulmonary blood flow
- pt will present as diaphoretic/dyspneic during feeds
- loud S2 due to pulmonary HTN, SEM due to ASD, holosystolic murmur of VSD
atlantoaxial instability (10-15%, but only 2% are symptomatic) –> compression of SC –> behavioral changes, torticollis, urinary incontinence, dizziness/vertigo, UMN sxs
- dx by c-spine radiographs
- tx by fusion of C1-C2
trisomy 18
- micrognathia, prominent occiput, low set ears, heart defects, renal defects, limited hip abduction
- clenched hands and overlapping fingers, rocker bottom feet
- die in first year of life
trisomy 13 - cutis aplasia (no epidermis over skull)
- midline defects - holoprosencephaly, omphalocele
VSDs are common
Fe deficiency anemia in young children
RFs - prematurity, lead exposure, milk-based diet or limited diet
- note - children should not be started on cow’s milk until 1 yo (cows milk is low in Fe and can lead to occult intestinal blood loss)
anemia of prematurity - impaired EPO production, short RBC life span, repeated blood draws
- usu asx, sometimes tachy, apneic, poor weight gain
- normocytic, normochromic RBCs
- tx - minimize blood draws, Fe supplementation, transfusions (but this will further suppress EPO levels and delay recovery)
dx - universal screening Hgb at age 1 (children will not present with classic symptoms)
tx - empiric trial of Fe supplementation
intussception
6 mo - 3yrs
lead point - Meckels, Henoch-Schonlein purpura, celiacs, intestinal tumor, polyps
tx - air or saline enema (barium enema is no longer used because it can leak and cause peritonitis), surgery for removal of lead point
- air enema is less messy
anger in kids
disruptive mood dysregulation disorder
- severe, pervasive irritability and temper tantrums
ODD - tempermental, hostile, angry, defiant towards authority
complications of prematurity
RDS
- incidence is inversely proportional to gestation age
- risk factors - prematurity, male sex, perinatal asphyxia, maternal diabetes (hyperinsulinemia affects surfactant production), c-section without labor
- CXR - diffuse reticulogranular pattern, air bronchograms
- antenatal treatment with corticosteroids, postnatal treatment with surfactant
PDA - continuous flow murmur
- kids will be healthy
- mildly accentuated peripheral pulses
bronchopulmonary dysplasia
intraventricular hemorrhage - due to capillary fragility and immature autoregulation of cerebral blood flow
- need screening head ultrasounds
NEC
retinopathy of prematurity
antenatal corticosteroids - reduce IVH, improves overall mortality
biliary atresia
initially well appearing, development of jaundice over 1-8 weeks
- jaundice and hepatomegaly
- acholic stools
- conjugated hyperbili, mild elevation in transaminases
dx
- ultrasound will show absent/normal gallbladder
- HIDA - failure of tracer excretion
- liver bx - expanded portal tracts with bile duct obstruction
- intra-operative cholangiogram (gold std) - biliary obstruction
tx - hepatoportenterostomy (Kasai procedure, temporizing)
- liver transplant
- without tx - the liver will become inflamed (hepatomegaly, hepatitis) and eventually fibrose
conjugated (direct) hyperbili is ALWAYS pathologic
other reasons for jaundice in infants
- physiologic jaundice - within the first 24hrs, indirect hyperbili
- breast milk jaundice - second week of life, indirect hyperbili
- Dubin Johnson - AR, conjugated hyperbilirubinemia, typically individuals are asx except for mild scleral icterus
- Crigler-Najjar and Gilbert - UDP-glucuronyl transferase deficiency/absence
- erythroblastosis fetalis (alloimmune hemolytic disease) - indirect hyperbili, pos Coombs (tests for antibodies)
cat-scratch disease
Bartonella henselae, gram neg bacilli
papule at scratch/bite site (but most pts wont remember the initial bite), tender regional adenopathy, fever of unknown origin
tx - self-limiting (1-2 mo), azithromycin
TORCHES
findings of all congenital infection - IUGR, HSM, jaundice, blueberry muffin spots (extramedullary hematopoesis)
toxo (cat litter) - macrocephaly, chorioretinitis, diffuse intracranial calcifications
CMV - chorioretinitis, periventricular calcifications
rubella - 1) cataracts, 2) sensorineural hearing loss, 3) PDA
- dx rubella IgM, PCR
- prevention - vaccine for mom
- in older children - fever and cephalocaudal spread of maculopapular rash (spares palms and soles) + LAD
- in adults - may be asx or present with fever, rash, and arthralgias/arthritis
varicella - limb hypoplasia, cataracts, scarring
syphilis - hepatomegaly, nasal discharge, osteoarticular destruction, maculopapular rash (desquamating or bullous rash), abnormal long-bone radiographs
- prenatal dx (mom’s serologies) and penicillin tx can prevent the majority of cases
HSV - acquired perinatally
- vertical transmission is rare - brain destruction, seizures, vesicular lesions
prepubertal vaginal bleeding
due to withdrawal of estrogen - presents in neonatal period, lasts < 1wk, exam nl
- effect of maternal hormones may also lead to temp breast bud and ext genitalia engorgement during first mo of life
v.s. trauma - fall, sexual abuse, genital exam will show lac/abrasion
vaginal foreign body - TP, foul smelling discharge
- irrigation with warmed fluids, swab for removal
rhabdomyosarcoma - rare, presents < 3yo, protruding vaginal nodules
constitutional growth delay
most common cause of short stature and pubertal delay in adolescents
- normal birth wt/ht –> between 6 mo and 3yrs, child drops percentiles, but tracks normally on curve
puberty and growth spurt are delayed - but WILL occur
- bone age will be delayed compared to chronological age
meningitis
pain with neck flexion
BACTERIAL
less than 3 mo - GBS, ecoli, listeria, HSV
- listeria - meningitis, granulomas?
- 3 mo - 10yrs - s pneumo, N meningitidis
- 11yrs - N meningitidis
listeria - mom will have flu-like sxs too
meningococcal disease - petechial rash
- give ceftriaxone and vanc
- Waterhouse-Friderichsen syndrome = shock and skin rash (large purpuric lesions on the flanks), 100% mortality
kids >1mo
- CBC, BCs, LP (no need for CT beforehand because infants have open fontanelles so herniation is rare)
- IV vanc and ceftriaxone (most common bugs are Strep pneumo and N meningitidis)
- dexa for H flu type B (reduces associated sensorineural hearing loss)
viral - echovirus, coxsackie, normal glucose
- supportive tx
tb meningits - like bacterial, but glucose is very low (<10)
GB - very high protein
regurg and vomiting in infants
GERD - very common (usu resolves by 1 yr)
- physiologic - asx, happy spitter, give reassurance and positioning therapy (frequent small volume feeds, hold infant upright after feeds, prone when awake)
- due to short esophagus and incompetent LES
- pathologic - failure to thrive, irritability, Sandifer syndrome (arching back, twisting neck)
- -> thickened feeds, antacid therapy
- -> esophageal pH probe and EGD (if severe)
milk protein allergy - regurg/vomiting, eczema, bloody stools
- eliminate dairy and soy protein from diet
- switch to hydrolyzed formula
- will resolve by age 1
glycogen storage disease
type 1: impaired glycogen to glucose conversion - hypoglycemia (seizures), lactic acidosis (build up in liver), hepatomegaly
- doll like features
tinea capitis
most common in AA children
transmission by direct contact or fomite (dermatophyte infection)
scaly erythematous patch with hair loss +/- tender postauricular LAD
tx - oral griseofulvin or terbinafine (and treat household contacts with selenium sulfide or ketoconazole shampoo)
- oral griseofulvin for scalp and nail tinea
v.s. trichtillomania - strands of varying length
growing pains
unrelated to growth
features - LE, bilateral, night pain
- normal physical exam and activity
parental education, reassurance, supportive care
craniopharyngioma
optic chiasm compression
pituitary stalk compression - endocrinopathies (GH deficiency, DI)
suprasellar calcified mass on imaging (v.s pituitary adenoma or Rathke cleft cysts, which would not have a calcification)
congenital hypothyroidism
most common cause is thyroid dysgenesis - aplasia, hypoplasia, ectopic gland
initially infants appear normal because of presence of maternal hormones
- newborn screening with T4 and TSH levels is mandated for all newborns
- tx with levothyroxine
eventually - large anterior fontanelle, lethargy, feeding difficulties, macroglossia
floppy baby
botulism - DESCENDING
- honey or spores (CA, PA, UT)
- sluggish pupillary reaction
- give botulism Ig
- vs tetanus - which is a baby with spasms and hypertonicity (supportive care, abx, tetanus Ig)
Werdnig-Hoffman syndrome - AR, degeneration of anterior horn cells and CN motor nuclei
- lower > upper
GB - ascending flaccid paralysis
Meckels
rule of 2s: 2% prevalence, 2:1 M:F, 2% symptomatic at age 2, located within 2 FEET of ileocecal valve
due to incomplete obliteration of vitelline duct
px - painless hematochezia, intussusception, intestinal obstruction, volvulus
dx - tch-99m pertechnetate scan
surgery for symptomatic pts
ddx for hematochezia in early toddlerhood - hemorrhoids, infectious colitis, intussception, Meckels, IBD
Henoch-Schonlein purpura
symptoms often preceded by mild URI
IgA mediated leukoclastic vasculitis
- (1) palpable purpura and joint pain, abd pain/intussusception (due to intestinal edema), renal disease similar to IgA nephropathy
lab findings - hematuria, RBC casts, proteinuria
tx - supportive (hydration, NSAIDs)
- hospitalization and systemic glucocorticoids for severe sxs
muscular dystrophies
early death
Duchenne - XR, test by gene testing
- onset 2-3 yo
- progressive weakness, Gower maneuver (walks up legs to stand), calf pseudohypertrophy
- comorbidities - scoliosis, cardiomyopathy
- wheelchair dependent by adolescence, death by 20-30 from respiratory/heart failure
Becker - XR
- onset age 5-15
- comorbidities - cardiomyopathy (death at age 40-50 due to heart failure)
myotonic - AD, CTG repeat
- onset at 12-30 yo
- facial weakness, hand grip, myotonia, dysphagia
- delayed muscle contraction
- comorbidities - arrhythmias, cataracts, balding, testicular atrophy/infertility
- death from respiratory or heart failure
elevated CPK and aldolase
lupus
anti-DS DNA abx
anemia due to SLE
elbow problems in kids
nursemaids elbow: radial head subluxation
- response to reduction is diagnostic of this condition
Panner disease
- osteochondrosis of capitellum
- occurs in active athlete, pitchers - chronic dull pain, crepitation, loss of pronation and supination
bone tumors
osteosarcoma (most common primary bone tumor) - metaphysis of long bones
- sunburst pattern and periosteal elevation (Codmans triangle)
Ewing - osteolytic lesions and onion skinning (periosteal reaction)
- sarcoma mets to lungs (and LNs)
- pre-op chemorads –> surgery
osteoid osteoma - cortical lesion, central nidus of lucency, pain relieved by NSAIDs
chronic osteomyelitis - central lytic bone defect with surrounding sclerosis (Brodie’s abscess)
- acute osteomyelitis - S aureus is the most common org
Langerhans histiocytosis - single lytic lesion
- benign, resolve spontaneously, conservative treatment
malaria
mosquito
periodic febrile paroxysms
- nonspecific malaise, headache, N&V, abd pain, diarrhea, myalgia, pallor, jaundice, petechiae, HSM
- parasites cycle from liver to bloodstream
- can have worse complications - cerebral malaria (seizures, delirium, coma)
dx - blood smears
protection - hemoglobinopathies, partial immunity from previous malarial illness
preventative drugs and safe quarters
child abuse
red flags - sparing of flexor surfaces (dunking injury)…
infectious rashes in kids
RMSF - febrile prodrome, erthematous macular rash that spreads inward
erythema infectiosum - Parvo B19, slapped cheek (can progress to reticular rash on entire body)
pediatric constipation
risk factors - initiation of solid food and cows milk, toilet training, school entry
encopresis can occur - rectum dilates –> increase rectal pressure –> internal anal sphincter relaxes in response
- enuresis can also occur
complications - anal fissures, hemorrhoids, enuresis/UTIs
tx - dietary fiber and water, limit cow’s milk intake, laxatives, suppositories and enemas
- sit on the toilet after each meal
stridor
stridor = upper airway symptom
laryngomalacia (4-8 mo) - inspiratory stridor, worse when supine (better when prone)
- supraglottic structures that collapse during inspiration
laryngomalacia
- confirm dx by laryngoscopy (only for moderate/severe cases)
- reassurance (supraglottoplasty for severe sxs)
- spontaneous resolution of stridor occurs in most cases
- majority of kids will have GERD sxs - treat with positioning and PPIs
vascular ring - biphasic stridor, improves with neck extension
- up to 50% of kids will have a cardiac anomaly
- barium swallow –> MRI angio
HSR
type 1 = immediate
- IgE mediated (mast cells) - anaphylaxis, urticaria
- allergic sxs affecting more than 1 organ system or sudden hypotension
- IM epi - b2 (bronchial smooth muscle relaxation), a1 (vasoconstriction, decreased edema, raised blood pressure)
- for bee stings - refer to allergist for venom immunotherapy (can reduce repeat anaphylaxis risk significantly)
type 2 = cytotoxic
- IgG and IgM - autoimmune hemolytic anemia, goodpasture syndrome
type 3 = immune complex
- serum sickness, PSGN, lupus nephritis
- serum sickness - fever, hives, joint pain, occurs 1-2 wks after administration of b-lactams or bactrim
type 4 = delayed
- T-cell and macrophage-mediated
- contact dermatitis - pruritic vesicles
- PPD
- tx - avoidance of allergen, topical/corticosteroids
leukocyte adhesion deficiency
recurrent skin and mucosal bacterial infection (omphalitis, periodonitis)
- no pus, poor wound healing
- ulceration and necrosis
delayed umbilical cord separation > 21d
marked peripheral leukocytosis with neutrophilia
platelet disorders
platelets disorders - present with easy/prolonged mucosal bleeding, ecchymoses, petechiae
vWF def is the most common inherited bleeding disorder
- prolonged bleeding time, peri-op, heavy menses
- prolonged aPTT due to decreased factor 8 activity
Bernard-Soulier syndrome - abnormal plt function testing
TCP - ITP, leukemia
- ITP - isolated TCP after viral infection
Wiskott-Aldrich syndrome - XR, WAS protein gene
- px in infancy - recurrent sinopulmonary infections, eczema, and TCP (easy bleeding)
- impaired cytoskeleton changes in leukocytes (so recurrent infections), plts
- tx - stem cell transplant
Burkitt lymphoma
starry sky, aggressive tumor but respond well to high dose chemo
RBC disorders
hereditary spherocytosis - AD, northern european descent, ankyrin and spectrin deficiency
- hemolytic anemia, jaundice, splenomegaly
- increased MCHC
- osmotic fragility test
- tx - folic acid supplementation, blood transfusions, splenectomy
- complications - pigment gallstones, aplastic crises from B19 infection
- with splenectomy - life-long risk for S pneumo sepsis
G6PD deficiency - Hgb becomes oxidized and precipitates with oxidant stress –> Heinz bodies and bite cells
- acute hemolytic anemia
otalgia
acute otitis media - middle effusion + acute eardrum inflammation
- often follows a URI - nasal congestion contributes to Eustachian tube inflammation…
- decreased mobility and bulging of tympanic membrane
- orgs - H flu, Moraxella, Strep pneumo
- give po amox (second line is augmentin) 10d course
otitis media with effusion - middle ear effusion WITHOUT acute inflammation
chronic suppurative otitis media - hearing loss, tympanic membrane perf, otorrhea for > 6wks
- no fever
- can give otic drops
bullous myringitis - serous liquid-filled blisters on tympanic membrane
cholesteatoma
- congenital or acquired (due to chronic middle ear disease)
- think in a pt who has persistent drainage despite abx
- appearance - granulation tissue, skin debris
(v. s. otosclerosis - would NOT have drainage) - complications include - hearing loss
cerum impaction
hemotympanum
otitis externa - pain with tragal traction, erythematous swollen external auditory canal, otorrhea
- Pseudomonas, S aureus
- FQ (+/- topical glucocorticoid)
otitis - mastoiditis - temporal brain abscess (ring enhancing lesion)
- get brain CT (can examine mastoid too)
neonatal sepsis
neonatal (<28d) sepsis should be high on the differential - for kids with decreased activity or poor feeding
- signs that are present in older kids or adults will not be present
temp instability - fever or hypothermia
- poor feeding, jaundice, AMS
- abnormal WBC count - high or low
- left shift - bandemia
dx - blood, urine, and CSF culture
tx - parenteral abx therapy = amp and gent
UTI
in infants and toddlers - dx and tx promptly because they usu involve the kidneys
- symptoms are non-specific or vague - fever, fussiness, DECREASED urine output
- fever > 39 in any child < age 3 - prompt eval for UTI
- for kids who dont wear a diaper - midstream clean cath
- young kids - straight cath
in older kids/females - E coli
- urethra and bladder are normal sterile - UTI occurs when bacteria around vaginal introitus ascend the urethra
urine dipstick - pos in 10% of school-aged kids
- proteinuria can be transient (stress, fever, exercise, volume depletion), orthostatic, persistent
- get 2 additional specimens to confirm
refer to peds nephrologist otherwise
acute Fe poisoning
Fe tabs will appear radio-opaque (and they are the only tabs that are radio-opaque)
Fe poisoning –> free radical production…
- GI upset + toxic - abdominal pain, hematemesis (gastritis), hypovolemic shock, metabolic acidosis
- in 2 d - hepatic necrosis
- in 2-8wks - pyloric stensois (due to gastric scarring)
tx - deferoxamine is antidote
- plus whole bowel irrigation and supportive care
acetaminophen - asx for 24hrs
ASA - tinnitus, fever, resp alkalosis and metabolic acidosis
Pb - chronic, irritability, poor appetite, headaches, abd pain, anemia
- tx - calcium EDTA is lead chelator
- screening is not recommended in children with no risk factors
murmurs
benign = provide reassurance
- early or mid-systolic, low intensity
- decreases on standing and valsalva (so with decreased preload)
- Stills murmur - low-pitched, musical at LLSB
- pulm flow murmur - high-pitched at LUSB
pathologic
- diaphoresis and fatigue with feeding/exercise…, pos FHx
- harsh, holosytolic, diastolic, high intensity
- increases with standing and valsalva
- ASD = loud, fixed split or single S2
- decreased/absent femoral pulses
- work-up - EKG (LVH), echo, cards referral
VSD - harsh, holosystolic murmur at LLSB
- small VSDs close spont in 75% by age of 2 (but you still need to work this up)
Holter monitor - to detect arrhythmias
coarctation of the aorta
thickening of tunica media of aortic arch near ductus
HTN in upper extremities, poor perfusion to lower extremities
- heart failure - irritability, poor feeding/diaphoresis, cardiogenic shock (infants)
- SEM at left interscapular area
- palpable pulsations of intercostal vessels (adults)
infants become dependent on flow through the ductus - begin to have problems when ductus closes at day 3
- side note - PGs are administered to keep ductus open
tx - surgery
Prader-Willi and Angelman
PW - paternal deletion
- hyperphagia, hypogonadism, dysmorphic facies
- complications due to obesity - sleep apnea, type 2 DM, gastric distention/rupture, death by choking
Angelman - maternal deletion
- happy puppet, ID
when would you get a renal and bladder US
UTI in kids <2 yo - abx for 1-2 weeks
infants and children < 24 mo with first febrile UTI
recurrent febrile UTIs
UTIs in child of any age with FHx of renal/urologic disease, HTN, or poor growth
children who dont respond to abx
asthma
wheezing
- lower airway disease - trach will NOT help, have to intubate
1) bronchodilators (inhaled, IV), corticosteroids
2) BiPaP
respiratory failure in asthma
- extreme fatigue, AMS, absent/minimal wheezing (poor air entry), cyanosis, chest wall retractions
lab findings - low PaO2 and high pCO2 (cant get air in or out)
DKA
DKA - infection/stress
- -> polyuria, decreased level of consciousness, diffuse abd pain, metabolic acidosis
- catecholamines –> glucagon –> hyperglycemia, ketonemia, osmotic diuresis (accelerates renal K loss)
- low total body K
methemoglobinemia
hx - exposure to oxidizing substances (dapsone, nitrites, local/topical anesthetic)
methHgb - ferric site has decreased O2 affinity, remaining 3 sites have INCREASED O2 affinity –> wont release O2 to tissues
- O2 supplementation wont change pulse ox reading
cyanosis, low pulse ox, dark chocolate blood
lab findings
- saturation gap - >5% difference between pulse ox and ABG
- normal PaO2
- co-oximetry - will measure different types of Hgb, will tell of elevated methHgb
tx - methylene blue
sulfhemoglobinemia
blue-green discoloration of blood and mucocutaneous surfaces
kidney disease in children
minimal change disease:
edema, fatigue, abdominal pain, proteinuria
light microscopy - NORMAL
- electron microscopy will show effacement of foot processes
- most common peds nephrotic syndrome - so bx is not required for kids under age 10 with this px
tx - corticosteroid therapy will result in complete remission
Alport disease - defect of type 4 collagen
- hematuria and sensorineural deafness
- thinned and thickened capillary loops, split GBM
HUS
initial insult from Shiga toxin - Ecoli O157:H7
- bloody diarrhea
in a few days - vascular damage and microthrombi formation
- = triad is hemolytic anemia, TCP, and AKI*
- fatigue, pallor, bruising, petechiae, edema
lab findings - hemolytic anemia (shistocytes, elevated bili)
- TCP
- AKI - elevated BUN/Cr
tx - supportive
- fluid and electrolyte management
- blood transfusions
- dialysis - if kidney injury becomes severe
Tay Sachs v.s Niemann Pick
both have cherry red macula and regression of motor milestones (+ hypotonia, feeding difficulties)
Tay SAX - heXosaminidase deficiency
- hyperreflexia
Niemann picks his nose - sphingomyelinase deficiency
- hSM, protuberant abdomenm
- areflexia
- no treatment, supportive care, high early mortality
Scarlet fever
S pyogenes
fever, pharyngitis (exudative), sandpaper-like erythematous rash (worst at skin folds)
- strawberry tongue
- tender anterior cervical nodes,
dx - rapid strep test and throat culture
tx - amox
Staph scalded skin syndrome - fever, blisters (axillae, groin), epidermal shedding
- antistaph, wound care
TEN - would expect mucous membrane involvement, > 30% BSA
OCD
SSRI and CBT (exposure and response prevention)
- clomipramine is second-line
eyes
preseptal cellulitis - eyelid erythema, swelling, chemosis
- oral abx - clinda
orbital cellulitis (occurs due to contiguous spread)
- pain with EOM, proptosis (orbital fat involvement), and or ophthalmoplegia with diplopia
- IV abx and surgery
retinitis pigmentosa - bilateral tunnel vision –> binocular blindness
menses
effects of anovulatory cycles on endometrium
- anovulatory cycles occur due to immature HPA-O axis - persistent endometrial proliferation, necrosis, heavy bleeding when ovulation does occur
- pt will come in with heavy menses:
- -> stable pts - give high dose OCPs - stabilizes endometrium
- -> unstable pt - D&C, transfusion
neonatal displaced clavicle fracture
tx - reassurance, gentle handling, analgesia (but not with ASA), splint/sling
eosinophilic granulomatosis with polyangiitis
formerly Churg-Strauss
chronic rhinosinusitis and nasal polyps, asthma, prominent eosinophilia
thymus
normally visible on CXR in kids < 3 yo
- should atrophy by puberty
sail sign on R side of heart shadow
responsible for lymphocyte production and maturation
varicella
airborne transmission
vaccine - doses at age 1 and 4
post-exposure ppx - for kids > 1 only
- hx of immunity - yes –> obs
- -> no –> immunocompetent, give varicella vaccine; immunocompromized, give VZIG (give vaccine or Ig, NOT both)
structural disorders of sexual development
primary amenorrhea:
no menses by age 15
pelvic exam/US (evaluate organs)
- uterus present –> serum FSH –> increased, get karyotype (or other tests, get 17-hydroxyprogesterone level)
- -> decreased, get cranial MRI
- uterus absent - karyotype serum, testosterone
- -> 46XX, normal female testosterone levels –> abnormal Mullerian development
- -> 46 XY, normal male testosterone –> AIS
complete androgen insensitivity syndrome
- 46 XY - AMH –> internal male genitalia
- breasts (testosterone is converted to estrogen) and cryptorchid testes
- no axillary/pubic hair - insensitivity to androgens
- keep gonads until puberty finishes (for hormones) - remove after puberty due to small risk of cancer
5a-reductase deficiency - undermasculinized until puberty –> when they experience masculinization
Mullerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome)
- 46XX
- normal ovaries, no uterus
transverse vaginal septum - normal uterus and ovaries
- abnormal vagina
- 46XX
imperforate hymen - cyclic abdominal pain
Turners
severely dehydrated kids
1kg of weight loss = 1 L of fluid loss
- but difficult to obtain accurate well weight
- mild dehydration - hx, no clinical sxs, oral rehydration
- moderate - sxs, IVFs (NS)
- severe - hypovolemic shock sxs, limited urine output
long QT
acquired
- hypocalcemia, hypoK, hypoMg
- med-induced- abx, psychotropics, opioids, antiemetics, antiarrhythmics
inherited - Jervell and Lange-Nielsen (congenital deafness), Romano-Ward
tx - propanolol and pacemaker
breath holding spells
6 mo - 2yrs - normal
crying followed by breath-holding –> cyanosis and LOC
- quick return to baseline
minor trauma followed by breath-holding –> pallor, diaphoresis, and LOC
- confusion and sleepiness for few minutes after
fibroadenoma
age < 30
provide reassurance in an adolescent
suspect spina bifida
get lumbosacral US
hereditary angioedema
rapid onset:
- edema of face, limbs, genitalia
- laryngeal edema - can be life-threatening
- edema of intestines
- NO urticaria
C1 inhibitor deficiency
- elevated levels of bradykinin –> edema
- C1q levels will be normal (in hereditary forms, low in acquired forms)
episodes usu occur after infection, dental procedure, or trauma
human rabies
bat. .. (mammals)
- incubation period - wks-mo
encephalitic - hydrophobia, aerophobia –> pharyngeal spasm and spastic paralysis
- agitation
paralytic - ascending flaccid paralysis
poor prognosis - almost all pts die in 1-3 mo
post-exposure prophylaxis - Ig and vaccine
febrile seizures
3mo - 5yrs
metatarsus adductus v club foot
metatarsus adductus - flexible positioning (question will say ankle movements appear normal)
- usu bilateral
- reassurance - will correct spontaneously
clubfoot - rigid positioning
- serial casting, surgery
conjunctivitis
viral (adeno), bacterial - 1-2 wks
allergic - bilateral, watery, ocular prurits
- due to IgE-mediated HSR
v.s. corneal abrasion - painful, photophobia
selective mutism
refusal to speak in social situation - > 1mo
- this is NOT normal shyness
- tx - CBT, graded exposure, family therapy, SSRIs
social (pragmatic) communication disorder - difficulties with verbals and non-verbals (eye contact, body language)
cryptorochidism
testicles should descend by age 6 mo - otherwise surgery
congenital diaphragmatic hernia
heart sounds louder on one side, no breath sounds on affected side
polyhydraminos (due to esophageal compression), concave abdomen, barrel-shaped chest
pulm hypoplasia and pulm hypotension
1) emergency intubation
2) NG/OG
