most often congenital, causing a narrowing of the descending aorta, usually at the level of the insertion of the ductus arteriosus distal to the left subclavian artery. Bc 2/3 of fetal blood flows from umbilical vein, through the patent ductus arteriosus, and into the thoracic aorta (bypassing the coarctation), hemodynamic stability is maintained in utero. When ductus begins to close after birth, a neonate may become symptomatic but depends on severity of the coarctation. Most cases asymptomatic and identified in adulthood when HTN is noted. If coarctation is severe, neonate can experience heart failure due to increased afterload. Moderate coarctation may result in cardiovascular adaptations in the infant, such as left ventricular hypertrophy and formation of collateral circulation.
Dx: most often made postnatally w/ echocardiography, after clinical sx become apparent.
Tx: dependent on severity and may include diuretics, prostaglandin infusion, inotropic agents, or surgical intervention.
**Which chromosomal disorder is frequently associated with coarctation of the aorta?
occurs in children <2 years of age. It is typically caused by viral infection. Respiratory syncytial virus is the MCly identified virus. Bronchiolitis typically begins with 2-3 days of cough, coryza, and sometimes fever. Around day four of illness, the inflammation then progresses into lower airways, resulting in significant inflammation, production of thick secretions, and lower airway obstruction. The corresponding exam may be decreased air movement, wheezes, rales. Typically diffuse but do wax and wane as secretions are produced and then cleared.
Tx: There is no cure for bronchiolitis. supported through the illness w/ suctioning, nasal saline drops, and supplemental oxygen or pressure support as needed for hypoxemia or increased work of breathing. Nasogastric feeds or IVFs may be needed to maintain hydration. The respiratory distress of bronchiolitis typically resolves over a few days, but cough and congestion may persist for weeks
Cystic fibrosis is caused by an abnormality in a mucosal electrolyte transporter, resulting in abnormally viscous secretions throughout the body, including in the pulmonary, pancreatic, hepatic, and gastrointestinal systems.
having bulky stools several times each day. Also has a persistent cough and tx for pneumonia in past. His weight-for-height is <5th percentile, but eats very well.
Sx: failure to thrive, chronic cough and pulmonary rales, steatorrhea, and trace pedal edema.
Dx: CF typically dx on newborn screen in the US prior to development of pulmonary sx and growth failure. The TOC for suspected cystic fibrosis is a sweat chloride test. Elevated fecal elastase is another supporting test, as it indicates malabsorption caused by inadequate function of the exocrine pancreas
congenital cardiac condition that presents in adulthood. Defect in the interatrial septum allowing pulmonary venous return from left atrium. Depending on size and presence of associated cardiac anomalies, can vary from no significant cardiac sequelae to right heart overload and failure, pulmonary HTN or even atrial arrhythmias.
Sx: Children usually don't have sx, but some may have easy fatigability, recurrent respiratory infections or DOE. In adults, the MC sx include dyspnea, easy fatigability, palpitations, sustained atrial arrhythmia, syncope, stroke, and heart failure.
-PE: increased precordial activity upon palpation, fixed and widely split S2 heart sound, systolic murmur(pulmonic ejection murmur) heard best at upper left sternal border, and intensity of murmur does not vary w/ position changes. Some pts may have a diastolic murmur characterized by a low-frequency diastolic rumble best heard w/ bell at the lower left sternal border
caused by Bordetella pertussis. Is highly contagious after being inhaled, its incubation period may last up to 3 weeks.
Causes 3 distinct phases of illness. 1- catarrhal stage, characterized by typical sx of coryza, cough, and low energy. Typically lasts 1-2 weeks.
2-paroxysmal stage, characterized by impressive paroxysms of cough. coughing episodes may be associated w/ cyanosis, apnea, a final audible "whoop," and posttussive emesis. May last for up to 2 months.
3-convalescent phase, where sx severity gradually subsides. Typically lasts 2 weeks. Of note, infants <4 months at higher risk of severe illness and mortality, particularly if significant leukocytosis (>60 x 109/L).
Tx: Azithromycin/erythromycin is a macrolide abx and first-line tx. Should begin immediately upon suspicion; need not wait for confirmatory microbiological testing, which can take several days. Notably, azithromycin may not decrease illness severity after the 7th day of sx.
What serious gastrointestinal complication is associated with macrolide use in newborns?
Answer: Pyloric stenosis.
In countries w/ established rubella immunization programs, occurrence is rare. Most cases were born to mothers emigrating from countries w/o rubella immunization programs. Primary rubella infection is typically self-limited and benign. Sx include fever, arthralgias, lymphadenopathy, and a maculopapular rash. However, an infected pregnant woman can transmit virus to her fetus through hematogenous spread. The fetal infection is chronic and can be devastating, leading to fetal death, premature delivery, or congenital defects.
MCly present w/ sensorineural hearing loss, congenital cataracts or glaucoma, and congenital heart dz. Additional findings may include neuro abnormalities such as microcephaly, developmental delay, and meningoencephalitis.
A superficial partial-thickness injury: considered minor if covers < 5% of total body surface area (BSA) in pts <10 or>50, or < 10% in pts between 10 and 50 y/o. Not be considered minor if its circumferential or affects the face, hands, feet, genitals, perineum, or major joints (In such cases, consult and possible transfer to burn center).
if blisters intact, they should not be intentionally ruptured and needle aspiration should not be performed, bc increases risk for infection. Gentle cleansing and dressing of affected area w/ a moisturizing cream followed by a non-adherent bandage sufficient. Minor burns are painful & tx w/ oral analgesics. Acetaminophen or NSAID alone or in combo w/ opioids.
Debridement of blisters and dressing of affected area with topical antibiotic is appropriate for deep partial-thickness burns where the blisters are unroofing, and necrotic and sloughing tissue is adhering to the surface of the skin. This tissue should be removed as it can prevent contact of antibacterial agents with the wound or may introduce bacteria.. This can be a very painful procedure, so sufficient analgesia should be considered, including IV opioids or sedation.
Consider escharotomy for circumferential and full-thickness burns
Children w/ partial-thickness burns should be seen for f/u the day after injury to adjust pain management, as needed, and reassess care of burn. Afterward, pt can be seen weekly until epithelialization occurs unless complications such as infection develop. Healing usually requires seven to 21 days.
1: measles/rubeola- sx don't appear for 10-14 days after exposure.... Severe, brassy cough; coryza; conjunctivitis; sore throat, fever (appears 3-4 days before exanthem), and a red, blotchy skin rash (begins on face and spreads to trunk/extremities).
-Koplik's spots (blue-white spots with a red halo) on buccal mucous membrane opposite premolar teeth 24-48 hrs before exanthem rash begins
2: scarlet fever/scarlatina- caused by strep pyrogens.
rash of very small red bumps that begin on neck and groin and spreads to rest of body, characteristic feel of sandpaper and lasts 5-6 days. Once rash fades, skin may peel(for up to 6 weeks). Theres usually a pale area around mouth (circumoral pallor). Another finding is dark, hyperpigmented areas esp in creases called Pastia's lines/sign.
-rash, fever, sore throat, white strawberry tongue (By day 4 or 5, white membrane sloughs off, revealing a shiny red tongue w/ swollen papillae (red strawberry tongue).
Tx: PCN G or VK
3: Rubella, German Measles, 3-day measles- rash begins as discrete macules on face that spread to neck, trunk, and extremities. The exanthem lasts 1-3 days. On occasion a nonspecific enanthem (Forscheimer's spots) of pinpoint red macules and petechiae on soft palate and uvula just before or w/ the exanthem. The hallmark is the generalized tender lymphadenopathy involves all nodes, but most striking in the suboccipital, postauricular, and anterior and posterior cervical nodes.
4: Filatow-Dukes' Disease, Staphylococcal Scalded Skin Syndrome, Ritter's disease: SSSS usually see in infants and begins w/ abrupt perioral erythema, well-demarcate and tender to the touch. Covers most of the body in ~2 days. positive Nikolsky's sign. In most cases lesions become fluid filled bullae or blisters. (clear and does not contain bacteria or WBCs). The lesions do not always fill with fluid and in this case some refer to the disease as staphylococcal scarlet fever.
5: Erythema infectiosum- caused by Erythrovirus (Parvovirus) B19. Pruritus, low-grade fever, malaise, and sore throat precede the rash in ~10% of cases. Lymphadenopathy is absent. There are 3 distinct, overlapping rash stages. Facial erythema ("slapped cheek") -- red papules on cheeks that rapidly coalesce in hours, forming red, slightly edematous, warm, plaques that are symmetric on both cheeks but dont cover nasolabial fold and circumoral region. Fades in 4 days. Net pattern erythema is in a fishnetlike pattern--begins on extremities ~2 days after onset of facial erythema and extends to trunk and buttocks, fading in 6-14 days. The eruptions may fade and then reappear in previously affected sites on face and body during the next 2-3 weeks (recurrent phase). Temp changes, emotional upsets, and sunlight may stimulate recurrences. Rash fades w/o scaling or pigmentation
•fiery-red facial erythema -> lacy, reticular
6: Exanthem subitum, Roseola infantum, "Sudden Rash", rose rash of infants, 3-day fever- Caused by HHVB6 or HHV7 a sudden onset of high fever of 103-106° F w/ few or minor sx. Most appear inappropriately well but may experience slight anorexia or 1-2 episodes of vomiting, running nose, cough, and hepatomegaly. The rash begins as the fever goes away. The term exanthem subitum describes the sudden "surprise" appearance of rash after fall of the fever. Numerous pale pink, almond-shaped macules appear on trunk and neck. They become confluent, and then fade in a few hours to 2 days w/o scaling or pigmentation.
Patient with a hx of GAS infection
Complaining of fever, red skin lesions on trunk and proximal extremities, and small, non-tender lumps located over the joints
PE will show JONES criteria: Joints, Oh no, carditis!, Nodules, Erythema marginatum, Sydenham chorea
Labs will show anti-streptolysin O, anti-DNase B, positive throat culture, or positive rapid antigen test
Treatment: Aspirin (NSAIDs) 2-6 weeks w/ taper =/- steroids if severe carditis. Penicillin G= TOC (Erythromycin if PCN allergic), NSAIDs
Mitral > aortic >tricuspid > pulmonary (rare)
point mutation where valine substituted for glutamic acid on beta chain --> HbS which has decreased solubility under hypoxic conditions, leading to vast-occlusion and hypoxia. Sickled cells are destroyed by the spleen --> hemolytic anemia
sickle cell trait (AS): usually asymptomatic and not anemic unless exposed to severe hypoxia, may develop episodic hematuria or isosthenuria
dx: hemoglobin electrophoresis- presence of both hemoglobin A (HbA) and HbS with greater amount of HbA
tx: usually none required
SCD: sx begin as early as 6 m/o, dactylitis is the MC initial presentation
-infections- functional aslepnia leads to ^ risk of infections. Salmonella osteomyelitis, aplastic crisis associated w/ parvovirus b19 infections
-painful vaso-occlusive crisis: acute abrupt pain, priapism common, avascular necrosis of bone
-skin ulcers (esp tibia),
-chronic hypoxia: palm HTN, CHF, sx of fatigue
-stroke: 25% have one by age 45
dx: peripheral smear best initial test- target cells, sickles erythrocytes, decreased H&H, Howell-jolly bodies (indicated functional asplenia)
-hemoglobin electrophoresis: HbS (little to no HbA), increased HbF
tx: Pain control: IV hydration and oxygen first step in management of pain crisis, RBC transfusion therapy for severe crisis
- hydroxyurea: (increased production of HbF & reduced RBC sickling) reduces frequency and severity of pain episodes, prolongs survival
in children prophylactic PCN given as early as 2-3 months until at least 5 y/o ro prevent infectious complications
anterior- inflammation of iris or ciliary body --> unilateral severe ocular pain and photophobia, eye redness, blurred/decreased vision.
posterior- choroid inflammation. --> blurred or decreased vision, floaters, may not be painful
causes: autoimmune diseases HLA B27 dz, sarcoidosis, IBD... infectious- CMV, toxoplasmosis, syphilis, TB, trauma
pe: ciliary injection (limbal flush), consensual photophobia, constricted pupil/miosis
dx: slit lamp: inflammatory "cells & flare"
tx: anterior--> topical gluticocorticoids
posterior--> systemic glucocorticoids
an undescended or "hidden" testis. Usually an isolated finding and associated w/ low birth weight and prematurity. The first clinical finding usually an empty or hypoplastic scrotal sac, w/ or w/o inguinal fullness. Important to differentiate between a palpable and impalpable testis. if palpable, manipulate testicular tissue into scrotal sac to differentiate between an ectopic, retractile, or true undescended testis. Once testis is in the scrotal sac, hold in place for at least 1 minute should fatigue cremasteric muscle, and retractile testis will remain in scrotal sac. An ectopic testis, w/ the same maneuver, will immediately spring back out of scrotum. Ectopic testes have previously descended normally, but have ultimately adopted an aberrant location, MCly the superficial inguinal pouch.
Most testis that have not completely descended will do so by 3-4 months of age. After 6 months of age, further descent is rare. For infants who continue to have undescended testis after 4 months of age, a surgical orchiopexy is recommended to free testis, manipulate it into scrotum, and suture it in place, decreasing likelihood of complications associated w/ cryptorchidism including testicular torsion, infertility, and malignancy.
aka congenital hip dysplasia: abnormal development of acetabulum and proximal femur leading to hip instability. Is typically found in otherwise-healthy infants.
-Known risk factors: female sex, breech positioning at ≥ 34 weeks gestation, family hx of DDH (including dysplasia-related hip replacement before age 40 close relative), and tight lower extremity swaddling.
Newborns should be screened for hip instability using the Barlow and Ortolani maneuvers which test for subluxation indicating hip laxity or mild instability, and dislocation which would indicate hip instability.
Even w/ normal initial exam, infants w/ risk factors for developmental dysplasia of the hip, other than female sex alone, should have routine screening by manipulation at each health visit and an US of their hips at four to six weeks of age.
Additional signs of hip abnormality include those which demonstrate asymmetry such as the Galeazzi (aka the Allis or Perkins) sign (>3 m/o) in which a child lying supine w/ knees and hips flexed will have knees of unequal height and asymmetrical skin folds. In young infants, US measurements enable hip classification by the Graf method. A child with a normal US may still warrant repeat imaging at 6 months by radiograph if limited mobility of hip, esp abduction, is concerning.
Tx: Pavlik harness if <6 m/o
6mo-2 years: closed reduction in OR
juvenile idiopathic arthritis (previously known as juvenile rheumatoid arthritis). There are 3 categories: systemic(Still's disease, daily fever, salmon colored pink migratory rash), oligo(pauci)articular [<5 joints involved, anterior uveitis] and polyarticular [>5 joints, iridocylitis].
-The average age of onset is between 1-3 years. Risk factors: genetic but also environmental risk factors, such as infection and abx that contribute. The major clinical manifestation is persistent joint swelling/pain that may lead to deformity. in 1 or more joints for >6 weeks in child <16 y/o.
Dx: made after exclusion of infection, other inflammatory diseases, and trauma
Rheumatoid factors are only rarely seen in pts
Polyarticular (RF positive and negative), pauciarticular (Type 1 or 2), and systemic (Still's disease)
Treatment is NSAIDs, methotrexate, steroids, specialist referrals
-ANA+ increased risk of iridocyclitis, routine eye exam every 3 months
ALL is the MC type of cancer in children, >25% of all cases of pediatric cancer. Affects boys more than girls and average age onset is between 2-5 y/o.
-Often present w/ nonspecific sx. The majority present w/ at least 1 of the following sx: palpable liver or spleen, fever, pallor or bruising. Pts may also experience lymphadenopathy, bone pain, testicular enlargement, HA, or a mediastinal mass.
Dx: A thorough clinical exam including bone marrow aspiration and biopsy to confirm dx.
Tx: mostly based on chemotherapy. Surgical intervention not required, except to place a catheter to administer chemotherapy, abx, blood products and to obtain samples of blood
VSD, pulmonic stenosis, right ventricular hypertrophy, overriding aorta
sx: Intermittent episodes or "spells" of lightheadedness, cyanosis, sometime syncope, seizures, and death. Squatting is the MC sx bc helps breathe better temporarily by decreasing return of venous blood from legs
-clubbing of fingers, Systolic thrill mid-left sternal border, Murmur loud, rough, ejection murmur along LSB
dx: EKG-Right ventricular hypertrophy
Echo-VSD is visible; right ventricular outflow tract is narrowed
X-ray-"boot-shaped heart" lungs show diminished vascularity
tx: 1/3 of those untreated die w/in 1st year; 3/4 by age ten; 90% by age 20
•Patch closure of VSD so aorta arises solely from left ventricle, enlarging right ventricle outflow tract, (pulmonary valve) as much as possible
twisting of any part of bowel at its mesenteric attachment site, can cause obstruction and impaired vascular supply to affected area.
-obstruction--> cramping abd pain, distention, N/V, constipation, tympanic abd, tenderness
-impaired vascular supply--> fever, peritonitis, tachycardia
-neonates: bilious vomiting w/in 1st week of life, colicky pain
dx: abd CT or contrast enema will show bird beak sign, abd x-ray bent inner tube or coffee bean sign
tx: endoscopic decompression (proctosigmoidoscopy) initial TOC, often followed by elective surgery due to recurrence
infant is typically full-term, w/ some fetal distress prior to delivery or depression at delivery. Distress is present from birth and often manifested by a barrel chest appearance and coarse breath sounds.
(Meconium-stained amniotic fluid present in 10-20% of pregnancies, normal maturation event during late fetal life in response to hypoxic or ischemic stresses)
Fetal distress may lead to gasping respirations and in utero aspiration. Post natal aspiration of meconium also occurs if have labored respirations, apnea, bradycardia or hypotonia. Post-natal meconium aspiration is UNUSUAL in vigorous, healthy neonates and likely due to the normal protective reflexes of the upper airway.
dx: CXR: diffuse coarse infiltrates; hyperinflation; flattened diaphragm
prevention: Delivery before 41 weeks
Post-natal intubation and suctioning of trachea of neonates who are hypotonic, apneic, bradycardic or gasping
Tx: supportive care including oxygen, mechanical ventilation, and fluid maintenance
-Exogenous surfactant, inhaled nitric oxide, and extracorporeal membrane oxygenation (ECMO) may be required in most severe cases.
-Survival expected in >90% of cases
SEVERE COMPLICATIONS: Persistent Pulmonary Hypertension of the Newborn (PPHN); PTX; Pneumonia (infected amniotic fluid)
physiologic jaundice presents on days 3-5 of life and billion levels fall in ~50% of neonates during first week.
-physiologic: transient decreased in UGT enzyme activity.... breastfeeding failure (inadequate breast milk consumption leads to decreased BMs which excrete bili)..... breast milk jaundice- infant liver not mature enough to process lipids (occurs ~4-7 days of life)
-pathologic: Crigler-Najjar syndrome, gilberts syndrome, cretinism, hemolytic anemia, Dublin-johnson syndrome. May occur in 1st 24 hours of life and persist >10-14 days, bilirubin increase >5mg/day
**associated with bili >12 in term infant
sx: jaundice is associated with bili levels >5.0 mg/dL
kernicterus (cerebral dysfunction and encephalopathy)--> seizures, lethargy, irritability, hearing loss, AMS. associated with bili levels >20mg/dL
dx: bilirubin, coombs (distinguished between immune mediated and not), blood smears if hemolysis, LFTs, alkaline phosphatase
tx: if physiologic no management needed
phototherapy: for term infants w/o risk factors if total bilirubin >12 at 24 hours, >15 at 48 hours, or >18 at 72 hours
(values lower can be used for preterm infants