Peds Flashcards
Microcephaly, hand-wringing
Rhett
Normal until 2-4y/o –> declining motor, social fxn
Disintegrative
Complications of prematurity
IVH, RDS, PDA, NEC, bronchopulmonary dysplasia, retinopathy
Small for gestational age complications
Hypoxia, asphyxia, meconium asp, hypOthermia, glycemia, Ca, polycythemia
Large for gestational age complications
Hip subluxation, talipes calcaneovalgus
Metaphyseal corner fx, rib fx
Abuse
Benefits for mom of breastfeeding
Return to weight, dec bleeding, dec OVARIAN & BREAST CA,
CI to breastfeeding
TB <2wks tx, HIV, Herpes, VZV w/in 2 days, chemo, etOH, drugs & Galactosemia in baby
Mom w/ influenza & breastfeeding
If febrile –> PUMP
Benefits for infant of breastfeeding
Immunity, GI fxn, LESS gastroenteritis, otitis media, resp illness, UTI, NEC, DM-I, cancer
Normal weight loss for infant
add formula if >7%
1 cause of FTT
Inorganic - no parent/child bond; usually WEIGHT issue
12 months height and weight
weight triple, height inc by 50%
3 wks old, Crying same time everyday, 3hrs per day
Infantile colic - resolves by 4mo
Bed-wetting normal ages
<5y/o, boys longer than girls
Newborn screens
Hypothyroid, PKU, galactosemia, anemia, CF
Age to toilet train
1-2y/o (bowel control 2mo, bladder 32mo)
Early hand dominance
weak opposite
6-18mo, angry, crying –> LOC w/ resolution and no post-ictal or incontinence
Breath holding spell = reassurance, r/o anemia
Male 1st sign (9-14)
Testes enlargement
Females 1st sign (7-13)
Thelarche/breasts @ 9.5 or pubic hair –> menarche 12.5
Stage 4 tanner
Hair covers pubic
Stage 5 tanner
Hair on medial thighs
Pre-mature thelarche
Common, benign - isolated breast development <7 y/o
Pre-mature adrenarche
only axillary hair = No Tx
Pre-mature pubarche
pubic hair b4 8 y/o = primary CNS disorder
Rapid, breast/testes, hair growth 1st step
MRI - infection, hydro, CP, glioma, hamartoma
GnRH stim test –> INC INC LH + tall, adv bone age, breast, pubic hair, menses
Central precocious puberty
Boys gynecomastia, NO testes enlargment
Peripheral precocious puberty
Boys causes of precocious puberty
Leydig (asymmetric testes), CAH, B-hCG, McCune-Albright
Girls virilization
Peripheral precocious puberty (ovarian, CAH, McCune)
Girl breast devel, café-au-lait, fibrous dysplasia of long bones –> fx, moonlike facies
McCune-Albright = peripheral precocious puberty
Dec FSH, LH, T, estradiol
Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism causes
Hypopituitary, thyroid, prolactinoma, Kallman, Prader, Lawrence-Mean-Biedl
Inc FSH, LH, Low T, estradiol
Hypergonadotropic hypogonadism
Hypergonadotropic hypogonadism causes
Klinefelter, Turner, auto-immune
Leydig cell fxn
T –> wollfian ducts
Sertoli cell fxn
AMH inhibits mullerian
Inc BF and nuclide uptake in testes
Epididymitis
Tx DUB and anemia
Pelvic exam + OCPs
Risks w/ teen pregnancy
Inc HTN, anemia, pre-term, STDs, LBW, welfare
Normal for occasional masturbation, “playing doctor,” asking about reproduction, cross-dressing
ABNORMAL = excessive sexual talk, simulating foreplay or intercourse, large knowledge
Loss of Maternal ubiquitin-protein ligase gene
Angleman
“Happy puppet,” MR, ataxia, small wide head, large mouth, blonde
Angleman
Hypotonia, poor feeding –> overeating, obesity
Prader-willi
Almond eyes, fish mouth, FTT –> obese, MR, hypogonad, OSA, DM, gastric rupture, choking
Prader-willi = deletion of Paternal 15q11-q13
Inc AFP
NTDs, multiple gest, wrong date, abd wall, demise
Dec AFP
Wrong date, Trisomy, IUGR
Dec AFP, dec estriol, INC B-Hcg, Upslanted eyes, simian crease, flat facies
DOWN
AA laxity, celiac, alzheimer, OSA, hypothyroid, DM-I, cataracts, ALL
DOWN
Heart defects in Down
Complete septal > VSD > ASD
GI defects in Down
Duodenal atresia, pyloric stenosis, hirschsprungs
Dec all AFP, estriol, b-hcg, Horseshoe kidney, omphalocele
Trisomy 18 (Edward) = VSD
3x female, hypERtonia –> scissor LE, clenched hands, rocker-bottom feet, low ears, micrognathia
Trisomy 18 (Edward) –> death by 1/yo
Holoprosencepahly, microophthalmia, microcephaly, cleft lip, polydactyly
Trisomy 13 = midline –> death by 1y/o
MR, microcephaly, large pinnae, testicles, hypotonia, CGG repeats, FMR1 gene
Fragile X
1 cause of MR in males
Fragile X
Webbed neck, sheild chest, lymphedema hands & feet neonatal, Left heart lesions, coarctation
Turner (45XO)
Turner syndrome at risk for?
Osteoporosis, coarctation, aortic valve abn/bicuspid, horseshoe kidney, lymph dysgenesis
Male hypogonadism, infertility, gynecomastia, anti-social
Klinefelter (47XXY) –> testosterone
Very tall, severe acne, anti-social –> incarcerated
Double YY male 47, XYY
Chr 15, fibrillin, Dec U/L segment ratio, Upward lens sublux, MVP
Marfan –> BBs, avoid HTN & contact sports
VSD, tetrology or truncus, abnormal facies, no thymus, cleft palate, seizures-hypoCa
Digeorge & velocardiofacial (CATCH-22)
Type V collagen, hypermobile joints, scoliosis, tissue paper skin, MVP, aortic dil
Ehlers-Danlos
Type I collagen, knock-knees, yellow, gray-blue teeth, hearing loss
Osteogenesis imperfecta
“Cocktail personality, Elfin facies,” Del chr7, supravalvular AS, HIGH Ca, hoarse
Williams syndrome = supravalvular AS
1 eyebrow, short, small hands, feet, self-destructive
Cornelia de Lange
Short, skeletal limb asymmetry, excessive sweaing, café-au-lait
Russell-Silver
Micrognathia, glossptosis, cleft lip/palate, recurrent otitis, upper airway block
Pierre-Robin
Hypopigmented macules, kidney angiolieomyomas, hamartomas, MR, ADHD, cardiac rhabdomyomas
Tuberous sclerosis = adenoma sebaceum
Café-au-lait, axilla freckles, Lisch nodules on iris, macrocephaly, feeding problems, learning disabilities
Neurofibromatosis-1 –> tumors
B/L acoustic neuromas, cataracts
NF-2
Sequelae of Sturge-Weber
AVMs, seizures, hemiparesis
1 deafness + pigment chg, white forelock, heterochromia irides
Waardenburg
Malarhypoplasia, micrognathia, abn ears
Treacher-Collins
MACROglossus/macrosomia, hypothyroid, hemihyperplasia, umbilical hernia or omphalocele, hyperinsulinemia
Beckwith-Wiedman –> US & AFP for Wilms and hepatoblastoma tumors
B/L renal agenesis –> oligohydramnios –> limp hypoplasia/clubbing, flat facies, pulmonary hypoplasia/RDS
Potter sequence - Posterior urethral valves = #1 UT obstruction
Obese, retinitis pigmentosa, polysyndactyl
Lawrence-Mean-Beidl
Hypertelorism, B/L epicanthal folds, high palate, flat nose, protruding metopic, cat cry
Cri-du-chat (deletion of 5p)
Blind, heart block, mitchondrial
Kerns-Sayre
Rapid MR & motor retardation
Sanfilippo
NO MR, scoliosis
Marquio
Behavior, tremors, dysarthria, dec ceruloplasmin
Wilson dz –> NO nuts, liver, shellfish, choc + PENICILLAMINE
Self-mutilation, hypotonia, persistent vomiting, MR, chorea, gout, uropathy
Lesch-Nyhan = HGPRT
Mousy/musty, eczema, blonde hair and blue eyes, + blood test OR Guthrie urine test
PKU = dec phenylalanine hydroxylase –> need TYROSINE
a-galactosidase A –> inc ceramide trihexoside –> severe neuropathic limb pain, telangiectasias, MI, stroke
Fabry’s disease - inc thromboembolic events
Galactosylceramide –> galactocerebroside –> progressive neurodegen, deaf, blind, MR, paralysis, death by 3
Krabbe
GLUcocerebrosidase, erlenmeyer flask femur, splenomegaly, “crinkled paper,” anemia, thrombocytopenia
Gaucher’s = #1
Spingomyelinase, ataxia, HSM, hypotonia, cherry-red macula, regression of milestones
Niemann-Pick
Hexosaminidase A, inc startle d/t hyperacusis, MR, cherry-red macula, inc head circumference
Tay-Sachs
Arylsulfatase A –> sulfatide –> demyelination –> ataxia, seizures, dementia
Metachromatic leukodystrophy
a-1-Iduronidase, frontal bossing, thick nose, dermatan & heparin sulfates urine, CORNEAL CLOUDING
Hurler
Iduronate sulfatase, XR, NO corneal clouding, hearing loss, inc stiff joints
Hunter
Glucose 6-P, hypoglycemia, hepatomegaly, high TAGs, uric acid, lactate, HCC, big belly and face, thin limbs
Von Gierke’s
a-glucosidase/acid maltase, weakness “floppy baby,” cardiomegally, marcoglossia
Pompe’s disease
Branched chain A.A. - ILV
Maple syrup urine
Sweaty feet
Isovaline, glutamic acid
Rotten cabbage –> HCC
Tyrosinemia
Marfanoid, W/O arachnodacyl, DOWN lens sublux, NO aortic dil, hypercoag –> stroke sx
Homocystinuria - inc methionine in urine or +CN nitroprusside
Deficiency in homocustinuria
Cystathione synthatase deficiency –> VitB6 or dec methionine and + cysteine
Dec renal reabs of cystine, lysine, arginine, ornithine
Cystinuria
Neutral A.A, intermittent ataxia, photosensitive rash, MR, emotional
Hartnup
Cyclic vomiting, ataxia
OTC deficiency = #1 urea
G-1-P uridyltransferase, hypoglycemia + hepatomegaly, jaundice, EC sepsis, B/L cataracts
Galactosemia
Start of milk –> V/D/FTT, oil-droplet cataracts, RTA, ovarian failure
Galactosemia –> SOY
F-1-P aldolase B, LOW hypoglycemia, V/D/FTT
Fructose intolerance
Fasting –> non-keto hypoglycemia, hyperammonemia, medium chain acyl-CoA
Fatty acid oxidation –> carnitine supplement
Screening lead level >10ug next step?
Serum lead level to confirm
Tx lead 10ug/dl
Recheck 45
Sx w/ iron toxicity
Acute - anorexia, lethargy, V –> dev delay, MR
Avoid w/ ipecac
corrosives (alkali) –> perf
1st step in alkali ingestion
Ensure airway –> Upper endoscopy
ASA toxicity tx
Acetazolamide + IV NaHCO3
Oculogyric crisis, torticollis, tremors, EPS
Phenothiazine toxicity –> benadryl
Prolonged QRS, seizure, hypotension
TCA OD –> sodium bicarb
Bloody V, D, cardio collapse
Fe toxicity –> deferoxamine (red pee)
Abd pain, N/V, hematemesis, opacity in stomach, metabolic acidosis + resp alkalosis
Iron toxicity –> whole-bowel irrigation, Deferoxamine,
Clues to substance abuse
Mood/sleep, dec school, appetite, inc truancy
Battery ingestion management
Esophagus = endoscopy; stomach and beyond = observe
Greenish, foul vaginal discharge, foreign body, step father 1st step
Irrigation w/ warm water –> extract under general anesthesia
Pre-Me, breast milk, 2mo supplementation
Iron (until 1yr) + Vit D
Juice guidelines
4-6oz after 6mo, never in bottle, generally NOT recommended
Normal age for vaginal bleeding in infant?
<3mo
Single S2, egg on a string, severe cyanosis
Transposition –> PGE1 to keep PDA open
Fixed slit S2
ASD
- primum = also mitral valve dz
Hearing loss, syncope, no disorientation or incontinence, normal vitals and exam, fam hx of death from heart condition
Prolonged QT
CHARGE
Coloboma Heart Atresia of choanae Retardation of growth Genital and urinary defects Ear anomalies/deafness
VACTERL
Vertebral Anal atresia Cardio TE fistula Esophageal atresia Renal Limb