PEDIATRIC NOTES

APGAR

1 min score – reflects intrauterine environment
5 min score – reflects transitional environment

0-4 poor
5-7 fair
8-10 good

BIRTH INJURIES

Caput Succedaneum and Cephalhematoma – both swelling of baby neonatal head
CS – from baby being stuck in birth canal – cone head baby. Scalp swelling resolves over few days. Gets better.
CH – gets worse, subperiosteal, limited to bone, so doesn’t cross suture line (bump doesn’t cross midline). Ddx r/o depressed skull fracture.

Subcutaneous Fat necrosis – associated w difficult delivery or asphyxia. Nodules on body, particularly back or buttox. Usually goes away, but could calcify.

Erb-Duchenne – C3/C4. Get CXR. Diaphragm on affected side doesn’t move when breathing. Also waiter’s tip. If mild, goes away with time. Otherwise, need PT.

Klumpke’s – C8/T1. Can get Horner’s Syndrome bc T1 = thoracic sympathetic ganglion. Claw hand. Goes away, but if needed get PT.

Facial Palsy – open side is affected side. Most time get better on own.

Clavicle most common fractured bone. Look for LARGE BABY (8-10 lbs). Often mothers find lump in that area after a few days (callus over fracture). See asymptomatic Moro sign. Feel crepitus in that area. Usually baby doesn’t move on its own, so don’t need to do anything.

Subconjunctival hemorrhage (bleeding in eyeball) goes away w time.

PHYSICAL EXAM – NORMAL VARIANTS AND ABNORMAL FINDINGS.

Cutis Marmorata – when babies first born, can’t regulate temperature as well, so get this. Looks lacy red on skin.

Salmon Path – common on back of neck. “stork bite.” If on eyelids, “angel kisses.” Just blood vessels close to skin. Goes away. 50% babies born with this. Looks like big birthmark.

Port Wine Stain – unilateral on trigeminal nerve. Does not go away. Associated with MR and seizures.

Strawberry hemangioma – can be anywhere on body. May not be present right at birth. Starts as macule, then grows and grows for a few year, then resolves by itself. If in airway, can cause increasing, progressive stridor even at rest.

Mongolian Spot – happen in all races, not just Mongolians! Mostly in lumbosacral area. Confused with child abuse, but does not fade away into surrounding skin like bruises. Instead it has clear-cut margins.

Erythema toxicum – erythematous rash, migratory (moves around), pustular. Otherwise baby is fine and healthy (vs scalded skin from staph). Sounds horrible but not bad at all.

Staph Scalded Skin – Nikolsky sign pos. If scrape these, will see neutrophils. Babies very ill. Looks like burn. Can go into shock.

Milia – look like white heads, common in nose. Can plug up skin pores.

Neonatal Acne – shows up in a week or so after birth. Reaction from circulating hormones from the mom through the placenta. Goes away with time. No rx necessary.

Coloboma – can occur anywhere along the eye.

Aniridia – no iris and therefore no color to eye… just looks black. Aniridia + Hemihypertrophy, think Wilms Tumor.

Cataract – look for light reflex – usually red. But if see white reflex (leucocoria), think retinoblastoma. If see cataracts in newborn, think TORCHS and Galactosemia.

Nevus of Jadassohn (nevus sebaceous) – looks like bald spot on head, or big flat wart on head. 15% chance to become malignant so remove in adolescents.

Malformations of ear (preauricular pit, preauricular skin tag, microtia) – think renal problems, but not always, just associated. Everyone gets universal hearing screening. Renal problem is like potter syndrome.

Branchial Cleft Cyst – lateral neck . if get infected, so needs to be removed. Thyroglossal duct cyst moves when you swallow.

Torticollis – knotted SCM muscle. If not taken care of, can cause visual problems. Head tilted to side. Just passive range of movement to rx.

Breast hypertrophy – from heightened rxn to hormones from mother. Also can see colostrums.

Supernumerary nipples

Poland Syndrome – no pec major

Pectus excavatum – funnel chest. Usually no problem, and gets better over adolescents by itself. If extreme, can compress on lungs or heart and lead to cor pulmonale, but rare.

Pectus Carinatum – pigeon chest. No problems.

Omphalocele – when GI doesn’t go back in during embryology. Midline defect. Has outer covering.
Gastroschisis is not midline (usually lateral) and no outer covering. Dx fetal ultrasound. Rx as soon as baby is delivered.

Polycystic kidney – most palpated abdominal mass in neonates. Most babies void w/in 24-48 hrs of life, if not, then suspect enlarged bladder.

Hypospadia – contraindication to circumcision.
Chordee – downward displacement of glans. Often see with hypospadia.

Undescended testical vs retractile testical
Retractile due to hyperactive cremasteric reflex – testical comes down in warm water.
Undescended – if doesn’t come down by 1 year old, then get surgery. Higher risk of carcinoma of testes if not taken care of.

Bilateral inguinal hernia – can cause hydrocele (transillumination under light),
Diastasis Recti – abdominal muscles not fused together in midline. Risk of abdominal hernia, but usually reduces on its own by 5 yrs.

Syndactyly – first get an XR to see if its two sets of bone or one. Then get surgery.
Polydactyly – If it’s a fully formed finger, then just leave alone. If it’s a finger tag with no bone, then just tie it off on base and it will autoamputate.

Thrombocytopenic Absent radius (TAR) – absent radius
Holt-Oram Syndrome – thumb has 3 bones, just like any other finger.
These finger problems associated with cardiac problems.

NEWBORN SCREENING

Screen for:
PKU
Galactosemia
Hypothyroidism
CF
Sickle Cell Anemia

PKU – test 48 hrs after birth. If do too soon, baby not enough protein intake then have false negative. Most common presentation is MR. also have mousy odor, eczema. Rx limit phenylalanine for life. Can’t convert to tyrosine.

Galactosemia – def galactose1phosphate uridyl transferase. Jaundice, congenital cataracts (galactitol accumulate), MR, hypoglycemia. HIGH RISK OF E.COLI SEPSIS! Breastfeeding contraindicated.

FETAL GROWTH AND MATURITY

IUGR (Intrauterine growth retardation) – Symmetric and Asymmetric types.
Symmetric – both body and head limited growth. Caused by syndromes, chromosomes, TORCH.
Asymmetric – head spared, so brain grown. Caused by uterine-placental insufficiency, smoking, malnutrition, HTN.

Ballard Scoring System for gestational age. Don’t need to know it. Just a way to estimate gestational age.
See if baby is appropriate for gestational age or not in height, weight. Look at square window, muscle tone, popliteal angle (angle of back of knee), scarf sign (take arm move across chest, if preterm, can go very far).

SGA (small for gestational age) – just small for whatever gestational age it is, no matter if preterm, term, or what.

Large for Gestational Age – over 4500g. risk of obesity, diabetes. Find often in big or diabetic mothers.

Post-term infant – greater than 42 weeks gestational age. Often see peeling skin, and long finger nails. Increased risk of mortality and meconium aspiration.

Prematurity – less than 37 weeks. Low birth weight = Less than 2500g. higher risk of infections, hypoglycemia, etc. PE see less subcu fat and therefore risk of hypothermia and temperature instabilities (so wear clothes). Few creases on sole of foot – see very smooth. See lanugo – baby peach fuzz.

SPECIFIC DISORDERS OF NEONATE

Neonate – first 28 days of life.

Infant of Diabetic Mother (IODM) – mom has uncontrolled diabetes. See macrosomia. Fetus has high blood sugar and produces lots of insulin. Once born and cord is clipped, not as much sugar anymore so high insulin, causing risk of hypoglycemia, causing jitters, seizures. Often have high RBC/Hgb so they are “ruddy” (red), plethoric. Bilirubin metabolism requires a glucose-dependent enzyme. Therefore when get hypoglycemia, bilirubin doesn’t break down, accumulates, then cause jaundice. Risk of respiratory distress syndrome (especially if premature, no surfactant), Hypertrophic Cardiomyopathy (resolves by 6 mo), Gastrointestinal problems (small/lazy left colon syndrome, doesn’t pass meconium, microcolon). Rx Treat mom’s diabetes during pregnancy! When baby is born, monitor blood sugar of baby, and give IV glucose if needed.

Respiratory Distress in newborn – LOOK AT AGE of baby. There is respiratory and non-respiratory causes.
Non-respiratory causes of Respiratory Distress — If give baby O2 and O2 sat doesn’t go up, think of baby with heart shunt . Baby that is anemic can go into high output heart failure. Polycythemia – heart pump sludgy blood, causing respiratory failure. Infectious, Metabolic, and Neurologic problems lead to respiratory distress too.

Most common cause of respiratory distress in newborn is respiratory. If baby is preterm, then RDS (respiratory distress syndrome) is most likely cause of respiratory distress. If is term baby, esp c section without vaginal squeeze, then retain amniotic fluid in lungs, cause Transient Tachypnia of Newborn (TTN) bc breathe fast to blow off that fluid.

Diaphragmatic hernia – scaphoid abdomen, bowel sounds in chest.

Choanal atresia – when posterior nasal aperture is blocked. Baby is blue initially, but pinks up when crying because now breathing through mouth.

Respiratory Distress Syndrome (RDS) – lack of sufficient surfactant. Not enough when born preterm, so have lots of atalectasis. Hear GRUNTING! Best initial test is CXR! See Ground Glass Appearance from alveoli collapsed – see very whited out chest. Most accurate test is LF ration. Treatment is supportive, like giving surfactant, empiric antibiotics. Prevention: try to get baby to term. Give mom steroids to help lung maturity.

Transient Tachypnia of Newborn (TTN) – from short second stage of labor or c section. Baby doesn’t blow off amniotic fluid from lungs so breathe fast to blow it off. Babies usually term. Rx O2 and supportive.C XR doesn’t look particularly abnormal. Get better and goes away in a few days.

Meconium aspiration syndrome – history of meconium with ruptured membranes. Passed stool into amniotic fluid. Will aspirate meconium when have the amniotic fluid around it. Cause with aspiration pneumonia and primary pulmonary hypertension of the newborn because of hypoxia and vasoconstriction. Dx see meconium at rupture of membrane. Rx suction it out of lungs. CXR looks like aspiration pneumonia.

Diaphragmatic Hernia – most common see on Left side because on right side, have liver to protect diaphragm. See bowel in chest, and trachea shifted away. Lung on affected side is compressed. CXR is initial test. Rx surgery

Meconium ileus – Cystic Fibrosis until proven otherwise. Babies usually stool within 48 hrs. otherwise think imperforated anus (just see it), hirschsprung. Need XR to see meconium ileus or hirshsprung. Microcolon distal to obstruction. Hirschsprung see megacolon proximal to obstruction. Dx abdominal XR, Get barium enema. First test of all these GI problems is to get abdominal film.

TE Fistula – look for baby with choking, coughing, gagging with first feed because aspirating into lung. Usually have proximal esophageal atresia and distal fistula, so see air in belly. First test of all these GI problems is to get abdominal film.

Necrotizing enterocolitis – look for preterm baby and low APGAR. Bloody stools and abdominal distention. Test of choice = abdominal film. First test of all these GI problems is to get abdominal film. Pneumotosis intestinale – gas deposition within intestinal walls – pathognomonic for necrotizing enterocolitis.

Hirschsprung disease – aganglionosis of segment, usually distal rectum. Baby doesn’t stool, and see megacolon in barium edema proximal to defective segment. Best test to dx is biopsy and see area of no ganglion cells. First test of all these GI problems is to get abdominal film.

Duodenal atresia – bilious vomiting with first feed. See double bubble. First bubble in left side is stomach, the second bubble on right is duodenum. First test of all these GI problems is to get abdominal film.

Physiologic jaundice – not within 24 hrs of life. Usually peaks by 5th day and gone by 7th. Babies born w high circulating rbc and hb. These rbcs don’t live as long, 60-90 days (vs. 120 days in adult), so have high turnover. Liver not fully mature yet so can’t metabolize this hb, so stored in tissue, leading to jaundice.

Pathologic jaundice – direct and indirect. Indirec there are coombs pos and coombs neg. Coombs pos, think Rh, ABO, or Minor. If Coombs neg get CBC because tell u what Hb is. If Coombs neg but have high Hb, suspect polycythemia, twin-twin transfusion, maternal-fetal transfusion.

Biliary atresia – baby has jaundice at birth, have direct hyperbilirubinemia, acholic or clay colored or chaulky stools. Bilirubin is conjugated but can’t get out of circulation.

Breast feeding vs breast milk jaundice – breast feeding jaudince is earlier (less than 1 week of age). Baby not getting enough breast milk –> dehydrated –> jaundice. Rx by giving baby more frequent feeds.
Breast milk jaundice occurs later (after 1 week). Nonesterified fatty acid in breast milk competes bilirubin in albumin molecule, so baby gets jaundiced. Supplement with some formula. Look for AGE OF BABY. Doesn’t cause problem for the most part.

NEONATAL INFECTIONS

Infections in neonate tricky because presents with lots of nonspecific, vague symptoms. Important to treat aggressively because babies can die easily.

Most common cause of sepsis/meningitis in neonate is Group B Strep. Also think Herpes simplex, listeria, and e coli. Look for mom who had fever, prolonged rupture of membranes, etc. all of these predispose baby to sepsis.

Labs: get CXR (ro pneumonia), CBC (hi blood count – maybe sepsis), Blood culture, urine culture, etc.

Rx: ampicillin+aminoglycoside, or ampicillin+3/4ceph. Ampicillin covers listeria.

TORCHS – toxo, other, Rubella, CMV, Herpes, Symphilis.

Toxo – from undercooked meat, like steak tar tar, cat feces. Pregnant female – don’t handle kitty litter. See intracranial calcifications (like CMV). Best initial test: Get TORCH titers! Rx mom with spiramycin, and rx baby with pyrimethamine, sulfonamide, and leukovorin (to fight bone marrow suppression that is ae of sulfa). Risk of retinitis, so get ophthalmic examination.

Congenital Rubella – 80% transmission during 1st trimester. Causes IUGR, cataracts, heart defects (asd, vsd, pda), blueberry muffin baby (purpuric lesion + jaundice). Can’t treat once baby is born, so best way is to prevent.

CMV – most ppl have CMV titers, and most ppl asymptomatic when get it. Problem is when get during pregnancy. Can cause IUGR, retinitis, seizures, MR, periventricular calcifications (white calcifications around the ventricles in the brain on CT). Dx can get titers, culture, or PCR. Baby’s not gonna spread CMV to others. Symptoms just response to CMV. No treatment.

HSV – present either locally (sem – skin eye mouth, best outcome 100% survival, no MR or developmental delays), can be disseminated (sepsis, shock), or can be in cns (seizures). If mom has active lesions, do c section. rx acyclovir.

Syphilis:
Early – baby less than 2 yrs old. Get failure to thrive, fever, anemia, rash, snuffles, hepatosplenomegaly or periostitis (plus saber shin, Hutchinson teeth, saddle nose, clutton joints, rhagades grooves at corner of mouth). Dx rpr, vdrl. Rx penicillin.

Varicella:
Neonatal – deliver within 1 week before or after maternal disease. Rx VZIG (on baby) if mother develops varicella 5 days before or 2 days after delivery.
Congenital – when mother got varicella during pregnancy. See limb hypoplasia, microcephaly, chorioretinitis, cataracts.

NEUROLOGIC DISORDERS

Neonatal seizures – hypoxic-ischemic encephalopathy, mostly seen in term babies – causes decreased oxygen to brain. Also caused by intraventricular hemorrhage, which u usually see in preterm babies. Do CT scan to see bleeding. Hypoglycemia also causes seizures (so get CBC!)

Seizures: differential
Hypoxic ischemic encephalopathy
Intraventricular hemorrhage
hypoglycemia
Dx: BMP (ca, mg, phosphorus), EEG, U/S, CT, CBC.

SUBSTANCE ABUSE AND WITHDRAWAL

Most common withdrawal drug is methadone and heroin in babies. Babies get drugs in utero and once out of uterus, get withdrawal. Methadone is long-acting (vs heroin) so get symptoms many days after birth.

s/s hyperactivity, irritability, fever, diarrhea, tremors, poor feeding, seizures.

Dx physical and history, urine drug screen on baby.

Rx may need long-acting sedation then weened off of that. But often just wrap tightly and care for the baby cold turkey.

Female who is about to start acne treatment (isoretinoin). Which test should you get before start? Pregnancy test.

CHROMOSOME ABNORMALITIES

Down Syndrome – most common pattern of malformation (1/660 births). See endocardial cushion malformations. Also risk of duodenal atresia. Wide space between first and second toe. Low set ears. Risk of hypothyroidism. Atlanto-axial instability. Brushfield spots (spots on iris).

Edwards Syndrome – trisomy Eighteen. 2nd most common after downs. Prominent occiput (vs. down’s w shorter Ap diameter of skull). Rocker bottom feet and hammer toes, clenched hands. Asd, vsd. Poor prognosis. Only 10% survive to 1 yr old. Also associated w increased maternal age.

Patau Syndrome – midline defects (clefts, holoprosencephaly, cutis aplasia – punched out lesion in scalp), colobomas. Also associated w increased maternal age.

WAGR syndrome – Wilms, Aniridia, Genitourinary anomalies, Mental Retardation. 11p13 deletion. Hemihypertrophy – one leg more developed/bigger than the other.

Klinefelter Syndrome – XXY. Hypogonadism, gynecomastia. Know Tanner stage to differentiate w normal boy w gynecomastia vs klinefelter.

Turner – XO. FEMALE WITH SHORT STATURE!! Lymphedema at birth (puffy). Wide-spaced nipple, turigium coli (webbed neck), no secondary sex characteristics. Risk of bicuspid aortic valve, coarctation of aorta. Risk of horseshoe kidney!! Cubitus valgus (arms don’t straighten out very much).

Fragile X – most common inherited MR. in MALES bc x-linked. Mid-face hypoplasia, so see wide spaced eyes. Big Head, Big Ears, Big Testicles. CGG repeats. With enough repeats, there is methylation of the CGG and the FMR1 promoter, silencing the gene, needed for cognitive development. X chromosome doesn’t actually “break.” It just looks fragile with all those CGG repeats.