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
