Pediatrics Flashcards
What is the DDx for direct hyperbilirubinemia?
Intrahepatic:
- Infections: hepatitis (usually viral) + sepsis + congenital infections
- Genetic/Metabolic: A1AT deficiency + CF + hypo-pituitary
- Drug/TPN induced
- Alagille syndrome
Extrahepatic:
- Biliary Atresia:
- Choledochal Cyst:
- Hypothyroidism
- Others: Caroli disease + sclerosing cholangitis + extrinsic compression (tumor)
When does hemolytic anemia usually present?
Usually presents in first 24h
Gait cycle has two phases
Stance (foot in contact with ground) and swing (foot in air)
Why do most babies have physiologic jaundice?
Virtually all babies will have some degree of it because they relied on placenta to clear bilirubin and must now transition to their own hepatic system (Immature hepatic glucuronyl transferase) + Bilirubin production is increased due to elevated hematocrit and shorter life span of fetal RBCs
What are some common and concerning diagnoses of a 4yo with an acute limp?
Common: Transient synovitis, minor injury/sprain, mechanical cause, growing pains
Concerning: Septic arthritis, cancer, JIA
Classic triad for reactive arthritis?
Can’t see, can’t pee, can’t climb a tree (conjunctivitis, urethritis, arthritis)
Who are high risk groups to consider testing for G6PD?
Positive FHx, Mediterranean, Middle Eastern, African, Southeast Asian
Jaundice must be investigated if:
- It occurs within 24h of birth
- Conjugated hyperbilirubinemia is present
- Unconjugated bilirubin rises rapidly or is excessive for patient’s age and weight
- Persistent jaundice lasts beyond 1-2wk of age
In transient synovitis, what should you tell the parents to come back if:
- Symptoms continue longer than 1 week
- Symptoms worsen
- New symptoms develop (fever or rash)
What red flags on Hx would make you more concerned?
RED FLAGS: constitutional symptoms + night pain + red/hot swollen joint + functional impairment/unable to weight bear
What is the surgical intervention called for biliary atresia?
Kasai procedure
When does physiologic jaundice usually resolve?
Usually resolves within 1-2w
Definition of hyperbilirubinemia in the newborn?
Total serum bilirubin >95th percentile on Bhutani nomogram in infants >35 wk GA
What is biliary atresia?
Progressive idiopathic inflammatory process leading to chronic cholestasis and fibrosis of intra and extra hepatic bile ducts
What is Osgood Schlatter Disease?
Overuse injury -> pain and swelling at tibial tubercle (point of insertion of patellar tendon) because of traction apophysitis (inflammatory reaction)
How does jaundice typically progress?
Jaundice progresses cephalocaudal - first in face then moves downwards
What is the DDx for indirect hyperbilirubinemia?
Increased production
- Hemolytic: Rh or ABO incompatibility (positive Coomb’s test)
- RBC membrane problems: spherocytosis, elliptocytosis
- RBC enzyme problems: PK deficiency, hexokinase deficiency, G6PD (X-linked – however female heterozygotes can have a 50% reduction of the enzyme)
- Increased RBC load: extravascular blood (cephalohematoma)
Decreased clearance - Inherited defects in the gene that encodes UGT1A1, which catalyzes the conjugation of bilirubin with glucuronic acid
- Crigler-Najjar syndrome
- Gilbert syndrome
Increased enterohepatic circulation of bilirubin
- Breast milk jaundice
- Ileus or intestinal obstruction
Lactation (breastfeeding) failure jaundice
2 year old that has been “walking funny” over the past 4 months. What features would help differentiate an inflammatory vs mechanical cause?
Secondary prevention of hyperbilirubinemia?
Secondary: blood typing (avoid isoimmunization) + clinical assessment (monitor for jaundice)
Detecting Jaundice: blanch skin with digital pressure - underlying color of skin/subcutaneous tissue will show; usually first seen in face then in trunk/limbs
Investigations and management of Legg-Calvé Perthes Disease
Diagnose with AP + frog leg view hip X-rays, refer to ortho + watchful waiting to maintain position of femoral head and preserve ROM +/- surgery or splinting (brace in flexion/abduction x 2-3 years) + PT (ROM exercises) – at higher risk of early OA
Where does osteosarcoma originate?
Typically affects long bones (originates in the metaphysis)
Definitive diagnosis of biliary atresia?
Cholangiogram
What is the treatment for JIA?
Initial treatment: NSAIDS and DMARDS. 1 or 2 joints - naproxen is used as the main treatments. With only a few joints involved probably not steroids. Kids can remain on NSAIDS longer than adults Refer to pediatric rheumatology
How would you expect a child with SCFE to be sitting
Abducted + externally rotated
Presentation for acute rheumatic fever
Presentation: initial episode occurs 2-3wks AFTER the GAS infection + increased WBC + ESR but throat culture usually negative; high and rising ASOT
Primary prevention of hyperbilirubinemia?
- Breast feeding; 8-12 times/d for first several days - poor caloric intake/dehydration can contribute to hyperbilirubinemia + increasing breastfeeding frequency decreases risk, don’t routinely supplement non-dehydrated breastfed infants with water/dextrose - will not prevent hyperbilirubinemia
- All infants should be screened total serum bilirubin at 72 hrs of life
What are the risk factors for neonatal jaundice?
- Premature <38 weeks
- Visible jaundice <24hrs
- Visible jaundice before discharge from hospital at any age
- Previous sibling with severe hyperbilirubinemia
- Visible bruising
- Cephalohematoma
- Male sex
- Maternal age >25 years
- Asian or European background
- Dehydration
When should physiologic jaundice clear up by?
Resolves by 1 week if full term, 2 weeks if premature.
6 year old, thin, dull, aching pain in left groin. #1 diagnosis?
Legg-Calve-Perthes Disease. A painless limp in a child under the age of 10 should raise concern regarding Perthes disease.
Management of low risk BRUE
Low risk: educate caregivers, resources for caregiver CPR training, No apnea monitor - can increase anxious, Infants should be reevaluated within 24 hours. What if it happens again? No longer low risk - high risk therefore they need to come in to ER
Questions to ask on Hx for a child presenting with limping?
- Age
- Limp
- Onset (acute vs chronic) - acute injury or infectious origin.
- Progression + daily pattern (AM stiffness/gelling phenomenon) + ability to weight bear/impact on normal activities + provoking/alleviating factors
- Joint symptoms: swelling of jt, stiffness, jt above and below
- Painful?: continuous or intermittent + night time + localization
- Systemic symptoms: fever, chills, malaise, night sweats + appetite/weight loss + rash
- Triggers: Sports or activities involved in, preceding injury or recent infection
Arthritis during or immediately after an infection (GI, GU, etc.) Ex: post-strep arthritis (not meeting ARF criteria)?
Post-Infectious/Reactive Arthritis
How often is underlying etiology found in BRUE?
About 50%
What are some signs of chronicity of disease with a limp?
- Leg/limb length discrepancy
- Muscle wasting
- Joint deformities/contractures
Most common primary malignant bone tumor in children/adolescents
Osteosarcoma
What is the clinical presentation of extrahepatic cause of direct hyperbilirubinemia?
Baby is well, full term, hepatomegaly, abnormal facies, acholic stool
Investigations + management of septic arthritis
Joint aspiration (high WBC, >75% PMNs)/gram stain and culture + XR (to r/o fracture, tumor, or metabolic bone disease) + CRP + WBC + blood culture à consult ortho for I&D + admit to hospital for IV abx (empiric > guided) x 3-6 weeks
What is the definition of SCFE?
Displacement of the femoral epiphysis off the femoral neck at the physis
How does JIA usually present?
- More often in girls
- Children typically have joint stiffness (in AM), swelling, effusion, pain, and tenderness, but some children have no pain
- Joint manifestations may be symmetric or asymmetric
- The most common comorbidity is iridocyclitis (inflammation of the anterior chamber and anterior vitreous)
What are some important aspects of the physical exam with a child with an acute limp?
- PGALS: check for rash + hypermobility
- Gait: child should be barefoot with as much of legs exposed as possible + toe/heel gait
- Joints: SEADSS (swelling, erythema, atrophy, deformity, skin changes, symmetry) + ROM + tenderness + effusions + special tests + always examine joint above and below
Presentation of septic arthritis?
Acute onset fever, refusal to walk, red/hot swollen joint - more common in infants + toddlers; rapid onset symptoms with limp then refusal to walk, usually single joint (knee and hip) from hematogenous spread
What should be your investigations if you are considering unconjugated hyperbilirubinemia?
- Hemolytic workup: CBC, reticulocyte count, blood group (mother and infant), peripheral blood smear, Coombs test
- If baby is unwell or has fever: septic workup (CBC and differential, blood and urine cultures - ± LP, CXR)
- Other: G6PD screen (especially in males), TSH
What is the prophylaxis for acute rheumatic fever
Prophylaxis: monthly IM penicillin/erythromycin (for 5yrs or until 21yo, whichever is longer)
Risk factors for SIDS?
Maternal factors: young maternal age (less than 20 years), maternal smoking during pregnancy, maternal alcohol and drug abuse during pregnancy, late or no prenatal care
Infant factors: preterm birth and/or low birth weight , prone sleeping position, sleeping on a soft surface and/or with bedding accessories such as blankets and pillows, sibling of a SIDS victim
Environmental factors: exposure to second hand smoking, bed sharing, overheating
What investigations can you do for transient synovitis?
- No investigations required
- Could do CBCd (WBC and ESR normal)
- Xray usually normal, US can show effusion
What must a clinician do when encountering a case of SIDS?
A request for a complete autopsy and involvement of the medical examiner (coroner).
What is deemed low/high risk stratification for BRUE?
Low risk if: age >60 days, born >32 weeks and CGA >45 weeks, no CPR, event <1min, first event. Only applies if no concerns on history and physical exam (no FHx of sudden cardiac death, social concerns or subtle feeding or respiratory problems)
High risk: Does not fall under low risk category
What investigations would you consider in a child with SCFE? What would you suggest while awaiting further investigation?
X-rays of hips - AP pelvis, frog-leg lateral, bilateral Others: blood work, US, MRI Awaiting further investigation: non-weight bearing, pain control, crutches
What should be included in physical exam of BRUE
Abnormal vital signs, respiratory signs, obvious malformations and deformities, neurologic abnormalities (eg, posturing, inappropriate head lag), signs of infection or trauma (particularly including retinal hemorrhage on funduscopy), and indicators of possible physical abuse
Symptoms of acute bilirubin encephalopathy?
Lethargy, poor feeding, high-pitched cry, hypotonia - apnea, seizures, coma
When does JIA need to start by?
<16 years
Describe the pathophysiology of hyperbilirubinemia.
RBC broken down into globin and heme - globin is recycled, heme is metabolized into bilirubin
Unconjugated bilirubin not water soluble, binds to albumin in the blood for transport to the liver, where it is taken up by hepatocytes and conjugated with glucuronic acid by the enzyme UGT to make it water-soluble
Conjugated bilirubin = more water soluble - can be excreted
What is the definition of BRUE?
An event occurring in an infant younger than 1 year of age when the observer reports a sudden, brief (< 1min) and now resolved episode of >1 of the following:
- Cyanosis or pallor
- Absent, decreased or irregular breathing
- Marked change in tone (hyper- or hypotonia)
- Altered level of responsiveness
Presentation of Osgood Schlatter Disease?
9-14y after rapid growth spurt (since high levels of activities) – usually asymmetric anterior knee pain increasing over time and worse with use, better with rest = tender over tibial tubercle (potentially feel lump), pain reproduced with knee extension against resistance and squatting
What should be asked on history for BRUE?
- Observations by the caregiver who witnessed the event, particularly a description of changes in breathing, color, muscle tone, and eyes; noises made; length of episode; and any preceding signs such as respiratory distress or hypotonia
- Interventions taken
- Prenatal (maternal) and current family use of drugs, tobacco, and alcohol
- Information about the infant’s birth (eg, gestational age, perinatal complications)
- Feeding habits (whether gagging, coughing, vomiting, or poor weight gain has occurred)
- Growth and development history (eg, length and weight percentiles, developmental milestones)
- Prior events, including recent illness or trauma
- Recent exposure to infectious illness
- Family history of similar events, early deaths, long QT syndrome or other arrhythmias, or possible causative disorders
How often is SCFE bilateral?
30%
What is defined as SIDS?
Sudden and unexpected infant death <12mo + cause not found history, exam, or death scene investigation
What is the clinical presentation of intrahepatic cause of direct hyperbilirubinemia?
Baby is ill (won’t feed, lethargic, hypotonic), preterm, SGA, hepatosplenomegaly, dark urine but normal stool
When does breast milk jaundice occur and when does it peak?
Presents after a few days, peaks ~2w, then declines to normal over 3-12w
What is the most common subtype of JIA?
Oligoarticular JIA (50%)
Investigations + management of Osgood Schlatter Disease?
Diagnose clinically (no need for X-rays) à benign and self-limited once growth plate ossifies + symptomatic treatment (NSAIDs/rest/flexibility) and PT to strengthen quads, no activity limitation; consider surgical excision in refractory cases if severe and skeletally mature
Management of neonatal jaundice?
- UV phototherapy (converts bilirubin into a form that is more easily excreted)
- Severe/Refractory: exchange/blood transfusion
What is the treatment of transient synovitis?
- Usually self-limiting
- Ressaurance + anti-inflammatories
- Follow-up
What is defined as pathologic unconjugated bilirubin and when does it show up?
Total Serum Bilirubin: rising >5mg/dL/day or continuing to rise after day 5.
Present at birth or in first 24h
2nd most common bone malignancy in children/adolescents, 2-3% of all ped’s Ca. Undifferentiated, small, round cell tumor, usually arise in bone (extraosseous is rare); typically affects long bone of the extremities (femur > tibia, fibula, humerus) and bones of the pelvis
Ewing Sarcoma
If a child has JIA, who else should they be referred to?
Optometrist/ophthalmologist - uveitis
What is alagille syndrome
Inherited condition (autosomal dominant) in which bile builds up in the liver because there are too few bile ducts to drain the bile
Other features include peripheral pulmonic stenosis, skeletal abnormalities
True or False, an infant who experiences a BRUE is at an increased risk of SIDS
False
What are some prevention strategies for SIDS?
Back to sleep (flattens occiput), don’t share bed, appropriate infant bedding (firm mattress + no loose bedding or pillows), smoking cessation, avoid overheating, breastfeeding, room sharing
Investigations + management of osteomyelitis
CBCd + CRP + blood culture/aspirate culture or bone biopsy + bone scan + MRI more sensitive than X-rays for early diagnosis
IV abx (4-6wk cefazolin> guided) then stepdown to oral keflex when clinically improved + surgical drainage/debridement of infected bone PRN
Presentation of osteomyelitis
Presentation: febrile + painful palpation (usually not warm or swollen) +/- effusion in adjacent joint; possibly elevated WBC, ESR, CRP + initially normal X-rays
Characteristic symptoms of Legg-Calvé-Perthes disease
Pain in the hip joint and gait disturbance (eg, limping); some children complain of pain in the knee. Onset is gradual, and progression is slow. Joint movements are limited, and thigh muscles may become wasted
Most common benign bone tumors in adolescents, arising as an outward growth from almost any bone, arises from cartilage – generally painless – see on XR – generally not removed
Osteochondroma
What is the most common cause for a limping child?
Trauma (acute or chronic)
What is the definitive treatment for SCFE?
Surgical fixation (pinning)
What is a major complication of SCFE?
AVN of the femoral head
Investigations + management of acute rheumatic fever?
GAS testing (culture + rapid stress test) + joint aspiration (to rule out other causes of arthritis) + ECG/cardiac markers + echo w/ doppler + ESR/CRP; dramatic response to ASA + penicillin/erythromycin (x10d) treatment/prophylaxis + prednisone (if severe carditis) 1mg/kg PO BID up to 60mg/d
What is the DDx for a limping child?
Infectious/Post-Infectious:
- Transient Synovitis
- Reactive Arthritis
- Septic Arthritis
- Rheumatic Fever
- Lyme Disease
- Osteomyelitis
Inflammatory:
- Juvenile Idiopathic Arthritis
- SLE
- HSP
Orthopedic/Mechanical:
- Trauma/Overuse
- Osgood Schlatter Disease
- SCFE
- LCPD
Malignancy:
- Leukemia
- Bony Tumors
- Neuroblastoma
- Hemophilia
- Sickle Cell Anemia
Other: growing pains
Which one is usually more severe; Rh incompatibility or ABO
Rh incompatibility usually more severe than ABO
What is positional plagiocephaly?
A condition in which specific areas of an infant’s head develop an abnormally flattened shape and appearance. To prevent, the orientation of the baby’s head should be varied
When should you suspect malignancy (Leukemia/Osteosarcoma/Ewing’s Sarcoma)?
Suspect if pain is out of proportion to physical findings + weight loss + anorexia + night waking/pain + abnormal bruising + pallor + masses + anemia + low WBC + low platelets
What is the Jones criteria?
2 major OR 1 major + 2 minor + evidence of preceding strep infection (hx of scarlet fever, GAS pharyngitis, positive rapid strep test, ASOTs)
Major: carditis + chorea + erythema marginatum + polyarthralgia (very tender – most common)+ subcutaneous nodules
Minor: elevated ESR/CRP + fever (=> 38.5) + prolonged PR interval (ECG)
What is the treatment for lyme disease?
Initial treatment: IV or oral antibiotics Ceftriaxone for 14d Amoxil or doxycycline for 4w (doxy for >8y)
12 year old who is obese - dull, aching pain in his left groin. What is the #1 diagnosis with are considering?
SCFE
What would determine the frequency of visits to ophthalmology for a child with JIA?
Females > Males Young age (<7y at diagnosis) Subtype of JIA ANA positivity
What should be your investigations if you are considering conjugated hyperbilirubinemia?
- Liver enzymes (AST, ALT), coagulation studies (PT, PTT), serum albumin, ammonia, TSH, TORCH screen, septic workup, glucose, metabolic screen, abdominal U/S, HIDA scan, sweat chloride
- Others: liver biopsy, open cholangiogram, ERCP
Bilateral deep muscular rather than joint pain in arm, calf, thigh, leg muscles – onset at night and resolves by morning (1-2 times per week); pain is paroxysmal and may be severe – occurs at least monthly for >3 months with intermittent symptoms free periods accentuated by ^ physical activity during the day
Growing Pains
Treatment for Ewing’s sarcoma and osteosarcoma?
Chemoradiation
________ is a broader term that includes transient synovitis
Reactive syndrome
What condition might present similar to biliary atresia?
Choledochal Cyst
Transient synovitis mostly affects which joints?
Large joints (hip, knee)
Management of high risk BRUE
High risk: Hospitalized, cause treated, follow-up with their primary care physician within 24 hours of discharge
Common presentation of SCFE?
Obese adolescent.
The first symptom of SCFE may be hip stiffness that abates with rest; it is followed by a limp, then hip pain that radiates down the anteromedial thigh to the knee. Up to 15% of patients present with knee or thigh pain, and the true problem (hip) may be missed until slippage worsens.
Etiology for BRUE
- Misinterpretation of normal physiology in an infant (e.g., transient choking with rapid feeding or with coughing during feeding, periodic breathing/ respiratory pauses of 5-15 seconds)
- Digestive: Gastroesophageal reflux disease or swallowing difficulty when associated with laryngospasm or aspiration
- Neurologic: Neurologic disorders (eg, seizures , brain tumors , breath holding or abnormal brain stem neuroregulation of cardiorespiratory control, hydrocephalus , brain malformations )
- Respiratory: Infections (eg, respiratory syncytial virus , influenza , pertussis)
- Infectious: Sepsis , meningitis
- Cardiac disorders: arrhythmia
- Metabolic disorders (e.g., inborn error of metabolism)
- Upper airway obstruction (eg, obstructive sleep apnea)
- Other (eg, drug-related, anaphylaxis, abuse)
When does breast feeding jaundice typically occur?
Occurs in the first week of life
What is the peak age for transient synovitis?
3-8 years
What testing should be done for high risk BRUE?
High risk: CBCd, lytes, liver tests, lactate, CXR, blood, urine, CSF cultures, echo, ECG, lumbar puncture, pertussis testing, skeletal survey, tox screen, UA
What is defined as pathologic conjugated bilirubin and when does it show up?
Conjugated Bilirubin: >2mg/dL or >20% total serum bilirubin
>14d
What are some investigations for limp in a child?
- Infection/Inflammation: CBCd + ESR/CRP + joint aspiration for C&S/Cell count (septic arthritis) + ASOT/throat swab (for rheumatic fever or post-strep reaction) + Mantoux skin test + urinalysis + virus/bacterial serology + CK + PTT + slit lamp examination of eyes
- Injury: AP + lateral radiographs
- Malignancy/Infection/AVN: bone scan to detect bone metabolic activity + peripheral smear (leukemia)
- Rheumatologic: ANA + RF + HLA-B27 + lupus anti-B’s + sickle cell screen + immunoglobulins + complement
A little boy, who is otherwise well, with a limp after URTI?
Transient Synovitis
What is breastfeeding jaundice?
While breastfeeding gets established, lactation failure, inadequate intake = significant weight/fluid loss leading to hemoconcentration of bilirubin and fewer bowel movements which increase the enterohepatic circulation of bilirubin (increased reabsorption of bilirubin in the intestines)
How long does JIA last for?
At least 6 weeks
Symptoms of chronic bilirubin encephalopathy?
Kernicterus - irreversible brain damage, mostly to basal ganglia leading to movement disorders (cerebral palsy), hearing loss, gaze abnormalities, but will have normal intelligence
What testing should be done for low risk BRUE?
Low risk: Observe for a brief period with continuous pulse ox, 12-lead ECG, testing for pertussis
Presentation of biliary atresia?
Initially thrive and seem healthy, then start to get biliary obstruction (jaundice, acholic stools, dark urine, HSM)
Etiology of abdominal pain in newborns
Intestinal obstruction (ie. volvulus, Hirshsprung, pyloric stenosis), hernia, trauma, peritonitis (i.e. necrotizing enterocolitis, GI perforation), GER
Etiology of abdominal pain in infant (<2 years)?
Constipation, acute gastroenteritis, hernia, volvulus, intussusception, colic, toxic ingestion, trauma, respiratory illness
Etiology of abdominal pain in children (2-18 years)?
Acute gastroenteritis, Constipation, intestinal obstruction, testicular torsion, respiratory illness, mesenteric adenitis, urinary tract infection/pyelonephritis, toxic ingestion, food poisoning, trauma, HSP, appendicitis, pancreatitis, cholecystitis
Etiology of abdominal pain in adolescence (12 - 18 years)?
Trauma, dysmenorrhea, pelvic inflammatory disease, ovarian torsion/cysts, constipation, toxic ingestion, food poisoning, pregnancy (ectopic), testicular torsion, gastroenteritis.
History for abdominal pain in children?
- HPI: OPQRST, previous episodes of similar pain, trauma history, pain interfering with activities or sleep
- Associated symptoms: fever, vomiting (bilious vs. non-bilious, bloody), hard stools, diarrhea, bloody stool, anorexia, cough, SOB, sore throat, urinary symptoms, vaginal bleeding/discharge, joint pain, rash, weight loss
- Past medical & past surgical history
- Menstrual history: age at menarche, duration, frequency, blood flow, dysmenorrhea, last menstrual period (LMP)
- Sexual history: partners, practices, past sexually transmitted infections (STIs), STI protection, contraception
- Medication history: some meds can cause nausea or abdominal pain
- Family history: sickle cell anemia, cystic fibrosis, etc.
- SHx (HEADSSS)
In general, if pain precedes vomiting, it is a ______ of abdominal pain. If the pain started after vomiting, it is more likely to be a ________ of abdominal pain.
In general, if pain precedes vomiting, it is a surgical cause of abdominal pain. If the pain started after vomiting, it is more likely to be a medical cause of abdominal pain.
Red flags of abdominal pain in children?
B symptoms/FTT + GI blood loss + significant vomiting + chronic severe diarrhea + persistent RLQ pain + unexplained fever + IBD FHx + age <5 + night-waking from pain + joint pain
Presentation of appendicitis in children?
More likely to be diffuse or periumbilical than localized to RLQ in toddlers and children. May be intermittent initially – progresses to constant. Anorexia, nausea and vomiting are common, while diarrhea is uncommon. Less obvious clinical features such as irritability, lethargy, grunting respirations and right hip complaints (pain, stiffness, and limp), may also be present. 87-100% of children have a fever of greater than 37°C.
What is the most common cause of acute abdomen in 5+ yo?
Appendicitis
What is the most common pathophysiology of appendicitis in children?
Hyperplasia of lymphoid follicles
Investigations of appendicitis in children?
High WBC with left shift, bHCG to r/o ectopic, Urinalysis, U/S first then CT
Treatment of appendicitis in children?
Hydration, electrolyte correction, lap-appendectomy with pre-op cefazolin and metronidazole (only in complicated)
What usually presents like appendicitis in children and has diffuse abdominal tenderness, rhinorrhea and pharyngitis and extramesenteric lymphadenopathy?
Mesenteric lymphadenitis
What has the presentation of steady and sudden-onset pain radiating to the back, nausea, vomiting, history of cholelithiasis
Acute Pancreatitis
Pathophysiology of Meckel’s diverticulum
True diverticulum – all layers of the wall of the gut. Usually in terminal ileum. Persistence of vitelline duct
Presentation of Meckel’s diverticulum
2 yo male RLQ pain & blood in stool. DDx: appendicitis
What is the rule of 2s for Meckel’s diverticulum?
Rule of 2s: 2 inches long, 2 feet from ileocecal valve, 2x more likely in males, 2 years of age, 2 types of ectopic tissue (gastric or pancreatic)
Diagnosis of Meckel’s diverticulum
Technicium 99m scan
Physical exam of Meckel’s diverticulum?
Bloody stools, abdominal tenderness with guarding, rebound tenderness
Infantile colic rule of 3s
<3wks old, 3 hours per day, 3d/w
Diagnosis of infantile colic?
Unexplained paroxysms of irritability and crying for >3h/d, >3d/wk for >3wk in an otherwise healthy, well-fed baby (rule of 3s), no failure to thrive
What is the presentation of peptic ulcer disease in children?
Epigastric tenderness, pain related to eating a meal, ulcer can perforate
Physical exam findings for urinary tract infection in children?
Fever, suprapubic and costovertebral angle tenderness, irritability, foul-smelling urine, gross hematuria
Investigations for UTI in children?
Urine dipstick (for leukocyte esterase and nitrite), urine microscopy, urine culture (best if suprapubic aspirate)
Presentation of UTI in children?
Dysuria, polyuria, hematuria, can progress to pyelonephritis
Presentation of primary dysmenorrhea?
History of menstrual periods and regularity, consider sexual history
Physical exam findings for primary dysmenorrhea?
Lower abdominal tenderness
Presentation of ovarian torsion?
Sudden onset severe constant or intermittent lower stabbing abdominal pain +/- N/V
Investigations of ovarian torsion?
Pelvic U/S + Doppler flow studies
Management of ovarian torsion?
Surgical emergency; admit and consult GenSurg/Gyne for surgical detorsion or oophorectomy
Etiology of chronic abdominal pain?
- Organic : gastrointestinal, genitourinary causes, neoplastic
- Functional abdominal pain (90%)
When can functional abdominal pain be diagnosed?
Can be diagnosed when there are no alarming signs or symptoms, physical exam is normal, and stool sample tests are negative for occult blood; no further testing is required, unless high suspicion for organic cause
What are the alarm symptoms of functional abdominal pain?
Alarming symptoms include involuntary weight loss, deceleration of linear growth, GI blood loss, significant vomiting, chronic severe diarrhea, persistent upper or right lower quadrant pain, unexplained fever, family history of IBD
Functional abdominal pain can be subdivided into
- functional dyspepsia (pain in upper abdomen)
- Irritable bowel syndrome (alternating bowel movements)
- abdominal migraine (paroxysmal abdominal pain, associated with anorexia, nausea, vomiting, pallor)
- functional abdominal pain syndrome
Clinical features of functional abdominal pain?
- Clustering episodes of vague, crampy periumbilical/epigastric pain, vivid pain description
- Seldom awakens child from sleep, less common on weekends
- Aggravated by exercise, alleviated by rest
- Psychological factors related to onset and/or maintenance of pain, school avoidance
What is the rule of 3s for chronic abdominal pain?
Rule of 3s: 3 episodes of severe pain, Child >3 yr old, Over 3 mo period
Management of chronic abdominal pain?
- Continue to attend school
- Manage any emotional or family problems, counselling, CBT
- Trial of high fibre diet, trial of lactose-free diet
- Medication should be for symptom relief - acid reduction therapy for dyspepsia, antispasmodic agents, smooth muscle relaxants for pain, non stimulating laxatives or antidiarrheals for altered bowel pattern
- Possible role for amitriptyline
Investigations for abdominal pain in children?
- CBCd + CRP + U/A + bHCG (in adolescent females) + stool culture/viral panel + C. Diff toxin +
- XR (supine + erect/LLD): ileus/bowel obstruction, free air – perforated viscus, fecalith, malrotation, intussusception, constipation
- CT Abdo: abscesses, appendicitis, solid organ abnormalities, tumors, peritoneal disease
- U/S Abdo: pyloric stenosis, appendicitis, testicular/ovarian torsion (+ Doppler for blood flow), pelvic disease, intussusception
When do children typically most children will achieve daytime urinary continence by 4 + night-time continence by 5
Most children will achieve daytime urinary continence by 4 + night-time continence by 5
What is daytime enuresis?
Problematic if >4yrs old wetting on consecutive days or if child had previously been continent (stress/abuse can be triggers)
What is the probability that a child has enuresis if their parent does?
Strong genetic component (50% chance if 1 parent w/ enuresis, 80% chance if both)
What is primary nocturnal enuresis?
Primary: nocturnal wetting in a child who has never been dry on consecutive nights for longer than six months
What is secondary nocturnal enuresis?
Secondary: new-onset nighttime wetting after the child has had a 6-month or greater period of dryness
Is secondary nightime enuresis more likley an organic or psychiatric cause?
Usually not an organic cause, more related to underlying psychiatric or emotional problems
Pathophysiology of nocturnal enuresis?
Pathophysiology: excessive nocturnal urine production; possibly from abnormal ADH release + smaller than normal bladder capacity + failure to awaken in response to bladder sensation (deep sleeper, difficult to arouse)
DDx of bladder causes of enuresis?
- Neurogenic Bladder: cerebral palsy + sacral agenesis
- Problem with Storage: hypersensitive bladder or inadequate sphincter tone = urgency
- Problem with Emptying: overflow incontinence b/c of infrequent or incomplete voiding, micturition deferral
- Lazy Bladder Syndrome
- Hinman Syndrome
What is lazy bladder syndrome?
Child voids <3 times per day, bladder may be enlarged > detrusor muscle decompensates - need to strain to void = incomplete voiding
What is Hinman Syndrome?
Eetrusor decompensation + bladder trabeculation + acquired vesicoureteral reflux + hydronephrosis and reflux nephropathy - can lead to renal insufficiency or chronic renal failure if not promptly identified and treated
DDx of anatomic causes of enuresis?
Anatomic: congenital urethral obstruction + ectopic ureter + labial fusion (leaks when child stands)
DDx of systemic causes of enuresis?
Diabetes insipidus + UTIs + constipation - spontaneous detrusor muscle contractions
What should be asked on history for enuresis?
- Pattern: number of days/nights per week + number of episodes per day + when in the night
- Volume: of enuresis + if they still have normal volume void in morning after
- Urinary Symptoms: dysuria + frequency + dribbling
- Other: voiding history + bowel habits + toilet training + fluid intake + caffeine intake
- FHx: of same
- SHx: abuse + big changes + psychosocial stressors
- What therapies have been tried already? Family/child’s attitude to wetting, readiness/motivation to start tx
- ROS: sleep disorders (incl. snoring, daytime somnolence for OSA) + polydipsia + polyuria + weight loss for DM
What should be performed on physical exam for enuresis?
GI + urogenital (get a sense of distended bladder or fecal impaction) + neurological exam + male exam for phallus/meatus + female exam for labial adhesions or urethral abnormalities + muscle tone/coordination of lower extremities + DTRs + sensorimotor + spinal cord malformations
Investigations for enuresis?
Urinalysis (for UTI, renal disease, DM) + consider renal U/S + voiding cystourethrogram
What are some non-medical treatments for enuresis?
- Bladder Diary/Education/Reassurance: enuresis not within child’s control so avoid punishment and negative reinforcement, protect self-esteem and social relationships
- Motivational therapy (reward child for dry days/nights)
- Lifestyle Modification: void regularly and before bed, limit fluids before bedtime, avoid caffeine/bladder irritants, manage constipation
- Behavioural Therapy: bed alarm that is triggered by dampness in clothing
What are some medications that can be used to treat enuresis?
- Desmopressin: synthetic ADH analogue - reduces urine production; not a permanent cure and enuresis returns when medication stopped
- Others: anticholinergics + TCAs
What is first line treatment for younger children with enuresis?
Motivational therapy (reward child for dry days/nights)
What are some developmental red flags?
- Regression of skills at any time
- Gross Motor – Not sitting by 7 mo, not walking by 18 mo
- Fine Motor – Handedness by 10 mo (usually at 2 years)
- Speech – <10 words at 18 mo
- Social – No smile by 6 -8 weeks
- Intellectual - No object permanence by 9-10 mo, No pointing/showing or joint attention by 18 mo
What is the diagnosis of FASD
A - Confirmed maternal alcohol exposure.
B - Evidence of characteristic pattern of facial anomalies including: short palpebral fissures and abnormalities in the premaxillary zone (e.g., flat upper lip, flattened philtrum, and flat midface)
C - Evidence of growth retardation, in at least one of the following:
- low birth weight for gestational age
- decelerating weight over time not due to other identified causes
- disproportional low weight to height
D - Evidence of CNS abnormalities in at least one of the following:
- decreased cranial size at birth
- structural brain abnormalities (e.g., microcephaly, cerebellar hypoplasia)
- Neurobehavioral impairment - Significant global cognitive or intellectual deficits
- Neurological hard or soft signs (as age appropriate), such as impaired fine motor skills, neurosensory hearing loss, poor tandem gait, poor hand-eye coordination
What are the physical findings of FASD?
- Facial Features (TRIAD): because of midface hypoplasia = short palpebral fissures (<3%ile), smooth philtrum (e.g. very flat/elongated), thin upper lip (e.g. very small cupid’s bow, thin upper lip)
- Other Physical Findings: flat midface + short nose + epicanthal folds + low nasal bridge
What does global developmental delay predict in the future?
Predict a diagnosis of intellectual disability in the future
Definition of Global Developmental Delay?
Significant delay (at least 2 SDs below the mean with standardized tests) in at least two developmental domains (gross motor, fine motor, speech/language, cognitive, social/personal, activities of daily living) in a child <5 yr of age
History for Global Developmental Delay?
- Detailed developmental milestones: rate of acquisition, regression of skills
- Associated problems: feeding, seizures, behaviour, sleep
- Ototoxic antibiotics, frequent ear infections
- Family histories
Physical exam for Global Developmental Delay?
- Micro/macrocephaly, dysmorphic features head-to-toe, hepatosplenomegaly, height and weight
- Neurodevelopmental exam (neurological exam, congenital abnormalities, dysmorphic features, current developmental level)
Etiology for Global Developmental Delay
- Prenatal: infection, genetic (FragX, T21), teratogen exposure, congenital hypothyroidism
- Perinatal: hypoxia, intracranial hemorrhage, meningitis/CNS infection
- Postnatal: acquired brain injury (trauma, hemorrhage, infection, malignancy), severe malnutrition, severe neglect, toxins (lead, mercury)
Investigations for Global Developmental Delay?
- Vision and hearing test
- EEG if suspected seizures
- Chromosomal microarray, karyotype, Fragile X DNA testing,
- Brain MRI if abnormal neuro exams, micro/macroecephalopathy – NOT GREAT
- MECP2 in girls with clinical course suggestive of Rett’s Syndrome
- Metabolic screening
- Lead, CBC, blood gas, urea, creatitine, electrolytes with anion gap, ferritin, B12, TSH, CK
- OT, PT, and/or SLP assessments
Presentation/Definition of Speech/Language Delay?
Often identified ~18 months: one SD below mean of age from standardized language assessment - can be expressive, receptive or both
Etiology of Speech/Language Delay
- Intellectual disability
- Developmental disorders: cerebral palsy, autism spectrum disorder, constitutional language delay
- Constitutional language delay
- Genetic/metabolic: DS, Fragile X syndrome, Williams syndrome, hypothyroidism, PKU, etc.
- Mechanical problems: cleft palate, cranial nerve palsy, hearing impairment
- Medical condition: seizure disorder (includes acquired epileptic aphasia), CP, TORCH infection, iron deficiency, lead poisoning, etc.
- Psychosocial: neglect or abuse
- Selective mutism
- Language specific learning disorder
- Isolated language delay
Physical exam for Speech/Language Delay?
- Guided by history: look for abnormal growth, dysmorphisms, unusual social interactions (lack of eye contact, not pointing)
- Include full exam of the external/internal ear (e.g. TM scarring), oral pharynx (e.g. cleft palate), and neurologic system (including tone)
Investigations for Speech/Language Delay?
- Use of language specific screens in primary care setting: The Early Language Milestone
- Clinical Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT/CLAMS), Modified
- Checklist for Autism in Toddlers (M-CHAT), etc.
- Developmental evaluation
- Hearing and vision screening (audiology and optometry referral)
- CBC (to rule out anemia), venous blood lead levels, genetic/metabolic workup as indicated
Management of Speech/Language Delay?
- Specific to etiology
- Referrals to: SLP, Otolaryngology Head and Neck Surgery (OHNS),and dental professionals, general support services
Prevention of Speech/Language Delay?
Prevention: parents can read aloud to their child, engage in dialogic reading, avoid baby talk, narrate daily activities, etc.
What is the presentation of autism spectrum disorder?
Presentation: persistent deficits in social communication and interaction (reciprocity, nonverbal communication, relationships); typically demonstrates restricted and repetitive behaviour.
What are the diagnostic criteria for autism spectrum disorder?
- Persistent deficits in social communication/interactions, ALL of: deficits in social reciprocity, nonverbal communication (abnormal eye contact, body language, gestures, lack of facial expressions), + developing relationships (difficulty with imaginative play/making friends)
- Restricted, repetitive behaviour patterns, interests, activities 2+ of:
- repetitive speech, motor movements or object uses (stereotypies, echolalia, idiosyncratic phrases)
- excessive adherence to routines/rituals,
- restricted, fixated interests abnormal in intensity/focus
- hyper or hyporeactivity to sensory input (indifference to pain/temp, adverse response to sounds/textures, excessive smelling/touching, visual fascination with lights/movement)
What is included in the assessment of autism spectrum disorder?
Assessment: 1. structured developmental + medical Hx, 2. observation of social, communication + play behaviours, + 3. developmental context of language, cognitive + adaptive skills
Investigations for autism spectrum disorder?
Audiology, clinical microarray (CGH), fragile X molecular testing, also ferritin, TSH, CK, lead, metabolic testing (NH3, lactate, serum AA, urine OA + MPS), EEG, neuroimaging
Treatment for autism spectrum disorder?
- Behaviour therapy – parent training, increase functional communication
- Sleep hygiene/melatonin, educational intervention, Tx GI problems, seizures, sensory environment
Presentation of gross motor delay?
Not walking or running by 18m + handedness <10m
What is Gower’s Sign
Gower’s Sign: crawling up knees
1st step in investigative approach to gross motor delay
Developmental assessment, history and physical exam
Upper motor neuron (spasticity, brisk reflexes, Babinski sign) are seen which investigations should be ordered?
- MRI
- Metabolic/genetic + refer
Lower motor neuron (weakness, hypotonia, reduced reflexes, atrophy) are seen which investigations should be ordered?
- CK, TSH, consider SMA (spinal muscular atrophy)
- Metabolic/genetic, EMG/NCS, biopsy, +/- MRI + refer
Clinical features of Duchenne’s Muscular Dystrophy?
- proximal muscle weakness by age 3, positive Gower’s sign, waddling gait, toe walking
- pseudohypertrophy of calf muscles (muscle replaced by fat) and wasting of thigh muscles
- decreased reflexes
- non-progressive delayed motor and cognitive development (dysfunctional dystrophin in brain)
- cardiomyopathy
Diagnosis/Investigations of Duchenne’s Muscular Dystrophy?
- molecular genetic studies of dystrophin gene (DMD) (first line)
- family history (pedigree analysis)
- increased CK (50-100x normal) and lactate dehydrogenase
- elevated transaminases
- muscle biopsy, EMG
Treatment/management of Duchenne’s Muscular Dystrophy?
- supportive (e.g. physiotherapy, wheelchairs, braces); prevent obesity
- cardiac health monitoring and early intervention
- bone health monitoring and intervention (vitamin D, bisphosphonates) o steroids (e.g. prednisone or deflazacort)
- surgical (for scoliosis)
What is cerebral palsy?
Disorder of movement + posture due to a non-progressive lesion of the immature brain
Characteristics of cerebral palsy?
It is a permanent motor disorder often accompanied by epilepsy/secondary MSK problems = disturbed sensation, perception, cognition, communication, and behaviour
What symptoms would you likely see with cerebral palsy?
Delayed motor milestones + abnormal posture + abnormal tone + persistent primitive reflexes + abnormal DTRs
- If you see 4/6 of these symptoms, likely CP
What should be included in your clinical evaluation of cerebral palsy?
POSTER:
- Posture/movement patterns
- Oral motor patterns
- Strabismus
- Tone of muscles
- Evolution of postural reactions and milestones
- Reflexes (infantile, deep, and plantar)
What are the possible etiologies of cerebral palsy?
- Preterm: periventricular leukomalacia + intraventricular hemorrhage + hydrocephalus + intraparenchymal hemorrhage + infection
- Term: brain malformations + perinatal strokes + TORCH infection + asphyxia during birth
What is Peri-Ventricular Leukomalacia?
Peri-Ventricular Leukomalacia (White Matter Changes): immature oligodendroglia more vulnerable to oxidative stress from ischemia, infection, inflammation - bilateral but asymmetric damage
Investigations for cerebral palsy?
: MRI brain/spinal cord + CT scan + genetic/metabolic work-up + EEG + coagulopathy workup
What is the most common classification of cerebral palsy?
Motor Diplegic
What is the diplegic presentation for cerebral palsy and most likely etiology?
Lower limbs are more affected than upper limb, seen in context of periventricular white matter damage (premature infant).
What is the hemiplegic presentation for cerebral palsy and most likely etiology?
- Spasticity in half the body (arm/face more than leg).
- Causes: Grade 4 IVH, stroke – MCA (mouth and face region). Pre-natal etiology
What usually causes quadriplegia?
Acute complete or partial ischemia, meningitis, severe periventricular leukomalacia
What is the presentation of dyskinetic cerebral palsy and what is the etiology?
- Involuntary movement of athetosis (condition in which abnormal muscle contractions cause involuntary writhing movements), chorea, and dystonia.
- Causes are acute perinatal asphyxia and kernicterus.
Management of cerebral palsy?
- Stretching: can increase ROM and reduce spasticity
- Spasticity: motor disorder characterized by velocity-dependent increase in tonic stretch reflex exaggerate tendon jerks so hyperexcitable stretch reflex
- Botulinum Toxin Type A: inhibits acetylcholine release and causes axonal degeneration > reduces spasticity for 4-6 months until regenerations occurs
- Intrathecal Baclofen Pump: to active reduce spasticity but can also take orally
- Selective dorsal rhizotomy
- Surgery: orthopedics (contractures)/neurosurgery (selective severance of nerves, interrupt reflex arcs)
- Alternative Medicine: massage, aqua-therapy, chiropractic, homeopathy, acupuncture, etc.
Remember to always assess ____ in cerebral palsy?
ADLS (DEATHS):
- Dressing
- Eating
- Ambulation
- Transfer
- Hygiene
- Sensation, School, and Sex
What is the DDx of pediatric respiratory distress?
- Upper Airway - foreign body, croup, laryngomalacia, epiglottitis, retropharyngeal abscess, choanal atresia
- Lower Airway + Pulmonary - Tracheitis, bronchiolitis, pneumonia, atelectasis, asthma, bronchospasm, respiratory distress syndrome of the neonate, tracheo-esophageal fistula, pulmonary embolus
- Neurologic disorders (e.g., drugs)
- Other (e.g., extrapulmonary restriction)
- Cardiac disorders - Congestive heart failure (left-to-right shunt, left ventricular failure), Cardiac tamponade
Signs and symptoms for pediatric respiratory distress?
Most common area for foreign body in pediatrics
Cricopharyngeal
What are the symptoms of cricopharyngeal foreign body?
Drooling + dysphagia + stridor
What is the bronchi triad Right Main Stem Bronchus: Bronchi triad:
- unilateral wheeze, 2. cough, 3. ipsilateral diminished breath sounds)
What investigations should you order for foreign body?
- C-XRAY - Expiratory and inspiratory views + neck
What are the findings on CXRAY for foreign body?
- In expiration, your diaphragms should go back up - The foreign body prevents air from leaving
- Flatten of the diaphragm due to hyperinflation on affect side
Presentation/time course of foreign body?
- Initial Event: Violent paroxysm of coughing, choking, gagging and possible airway obstruction occur immediately when the foreign body is aspirated
- Asymptomatic Interval: Reflexes fatigue and irritating symptoms subside. If you still suspect FB – do a scope
What is croup?
Inflammation of the upper and lower respiratory tracts (subglottic laryngitis)
Epidemiology of croup
Common in children <6yr + peak incidence 6-3yr + common in fall/early winter
Etiology of croup?
Etiology: parainfluenza (75%) + influenza A/B + RSV + adenovirus
Presentation of croup?
Barking cough + inspiratory stridor + resp distress + lethargy/agitation + worse at night + hoarse voice
Red flags of croup?
Drooling, toxic, tripoding, biphasic stridor, decrease SpO2
Possible investigations for croup?
CXR (if atypical presentation – usually just a clinical diagnosis)
CXR sign of croup
- Steeple sign from subglottic narrowing
Treatment of croup?
- PO dexamethasone x 1 dose. Reduces upper airway inflammation. Onset 2-3 hours and lasts 24-48 hours
- Severe – nebulized epinephrine. Reduces upper airway inflammation. Onset 10-30min and lasts 1-2 hours.
- Steroids are the mainstay of treatment but nebulized epin can buy you some time before dexamethasone kicks in
- Intubation (if unresponsive to treatment)
Most common cause of chronic stridor in infants?
Laryngomalacia
What is the pathophysiology of laryngomalacia?
Collapse of the supraglottic structures during inspiration (AKA floppy upper airway)
Presentation of laryngomalacia?
- Presentation – stridor
- Peaks at 4-8 months and then resolves, worse when lying on back, crying or feeding
- Severe – respiratory distress, GERD, FTT
What are the investigations for laryngomalacia?
Referral to ENT for bedside laryngoscopy
What is the management of laryngomalacia?
- Mild – Observation – will grow out of it
- Severe – supraglottoplasty
What is epiglottitis?
Supraglottic laryngitis
What is the pathophysiology of epiglottitis?
Cellulitis of the epiglottis and supraglottic structures leading to airway obstruction
What is the etiology of epiglottitis?
H. influenza type b – most common but declined with immunization, usually older (2-6yo)
What is the presentation of epiglottitis?
Toxic appearance + rapid progression + stridor + tripod position + sternal recession + anxious + fever (>39o)
4 D’s of epiglottitis?
4 D’s: drooling + dysphagia + dysphonia + distress
Investigations for epiglottitis?
Investigations: clinical diagnosis; avoid examining throat to prevent further respiratory exacerbation
If an CXR were performed for epiglottitis?
Lateral Neck X-ray – The thumb sign
Treatment of epiglottitis?
Intubation + antibiotics (ceftriaxone) + prevented with H. Influenzae vaccine
What is the progression of retropharyngeal abscess/cellulitis?
Cellulitis > phlegmon > abscess (often polymicrobial)
What is the presentation of retropharyngeal abscess/cellulitis?
Young children, looks sick, torticollis/refusal to move neck, resp distress (stridor), chest pain, cervical lymphadenitis, drooling, midline or unilateral swelling of posterior pharyngeal wall
What are the investigations of retropharyngeal abscess/cellulitis?
Lateral neck xray (in full extension)
Management of retropharyngeal abscess/cellulitis?
Management: secure the airway + emergency surgical drainage (consult ENT) vs. abx for 1-2d (ampicillin, clindamycin)
What is TEF?
- Tracheoesophageal fistula (TEF) is a developmental abnormality and results in an abnormal connection/fistula between trachea and esophagus.
What is the most common type of TEF?
The most common (85% of cases) type is proximal with a blind upper esophageal pouch and a distal end connected to trachea. In these cases, abdominal x-ray shows a lot of gas in the gastrointestinal tract because of the direct connection of the fistula to the distal esophagus.
What is the clinical presentation of TEF?
The presence of polyhydramnios (high amniotic fluid volume) - inability of the fetus to swallow amniotic fluid, secondary to the blind ending esophagus.
Newborns present with copious clear, mucousy, frothy secretions from their nose and mouth, which recurs even when suctioned. They may also have episodes of coughing and choking associated with cyanosis. These episodes are more prominent with feeding, particularly in cases with esophageal atresia.
What are the associations with TEF?
VACTERL (vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, esophageal atresia, renal anomalies and radial aplasia, and limb anomalies)
Diagnosis of TEF?
Radiological findings are diagnostic. Plain x-ray film can show blind pouch of proximal atretic esophagus. The presence or absence of air in stomach depends upon type of fistula.
Management of TEF?
- TEF requires surgical correction with end to end anastomosis of esophageal pouches and resection of fistula.
- However, preoperatively, these infants are at high risk of aspiration from secretions pooling in the blind pouch. Continuous wall suction of the blind pouch with a vented nasogastric tube is critical to prevent this complication.
What is asthma?
Chronic inflammatory airway disease with episodes of bronchospasms and inflammation resulting in reversible airflow obstruction
What is the presentation of asthma?
- Cough, wheezing, dyspnea/SOB, chest tightness
- A diagnosis of asthma may be considered in children under 6 if they have asthma-like symptoms more than 8 days per month or more than 2 acute exacerbations.
What are the physical exam findings of asthma?
- Vitals: pulsus paradoxus, tachycardia, tachypnea, dyspnea, low O2 sat
- Head and Neck: Central cyanosis, accessory muscle use, supraclavicular fossa indrawing, tracheal tug (especially in children)
- Auscultate: Long forced expiratory time
- Palpation: Hoover’s sign may be positive
- Percussion: Bilateral hyperresonance
- Breath sounds: May be reduced/absent, vesicular, prolonged vesicular expiration
- Expiratory sounds: wheezes
What should be asked on history for asthma?
The history should focus initially on the symptoms preceding the current exacerbation, such as infectious symptoms like rhinorrhea, fever, or cough; possible precipitants, and the time of onset of exacerbation. Then, do a focused asthma history including details about previous medications; recent exacerbations; current medications, including beta-agonists; and allergies.
Diagnostic Criteria for asthma?
- Recurrent airflow obstruction = wheeze 2x
- Reversible airflow obstruction = response to Ventolin
- No evidence of alternative diagnosis
What would be seen on pulmonary function test (Spirometry) for asthma?
- Obstructive pattern with concave (decreased flow rates + increased volume) with FEV1 <80% and FEV1/FVC <0.70
- Give SABA: An increase in FEV1 of 12 percent or more, accompanied by an absolute increase in FEV1 of at least 200 mL
Possible investigations for asthma?
- O2 + CBCd + electrolytes + sputum gram stain/culture + sensitivity + blood cultures from 2 peripheral sites (if chills/rigors) + Mantoux (if high risk for TB) + ABG (if sats low) + PFT + CXR (PA + Lat)
What investigations/questions should be asked to gauge asthma control in initial assessment of asthma?
:
- Reported frequency and severity of daytime symptoms and nocturnal awakening over the previous four weeks
- Number of exacerbations requiring oral glucocorticoids in the previous year
- Current level of lung function, if able to perform this testing (FEV1 and FEV1/forced vital capacity [FVC] values, or peak expiratory flow [PEF] if spirometry not available)
What would be considered intermittent asthma?
- Daytime asthma symptoms occurring two or fewer days per week
- Two or fewer nocturnal awakenings per month
- Use of short-acting beta agonists (SABAs) to relieve symptoms two or fewer days per week
- No interference with normal activities between exacerbations
- FEV1 measurements between exacerbations that are consistently within the normal range (ie, ≥80 percent of predicted)
- FEV1/FVC ratio between exacerbations that is normal (based on age-adjusted values)
- One or no exacerbations requiring oral glucocorticoids per year
What would be considered mild persistent asthma?
- Symptoms more than twice weekly (although less than daily)
- Approximately three to four nocturnal awakenings per month due to asthma (but fewer than every week)
- Use of SABAs to relieve symptoms more than two days out of the week (but not daily)
- Minor interference with normal activities
- FEV1 measurements within normal range (≥80 percent of predicted)
What would be considered moderate persistent asthma?
- Daily symptoms of asthma
- Nocturnal awakenings as often as once per week
- Daily need for SABAs for symptom relief
- Some limitation in normal activity
- FEV1 ≥60 and <80 percent of predicted and FEV1/FVC below normal
What would be considered severe persistent asthma?
Severe persistent asthma is manifest by the presence of asthma symptoms throughout the day, nocturnal awakening due to asthma nightly, reliever medication needed for symptoms several times/day, or activity limitation due to asthma
What is the management of intermittent (Step 1) asthma?
Patients with intermittent asthma have traditionally been treated with a SABA (salbutamol (100mcg), ideally with aerochamber (MDI), taken as needed for relief of symptoms. Could consider low-dose glucocorticoid and the fast-acting long-acting beta agonist (LABA).
What is the management of mild persistent (Step 2) asthma?
- Regular (daily) use of a low-dose inhaled glucocorticoid or a combination glucocorticoid-LABA inhaler (ADVAIR – can use in all age groups. SYMBICORT – can’t give to children <12).
- Continue to use SABA as needed
What is the environmental management of asthma?
Environment Control: avoidance of out door/indoor allergens, irritants, and infections; home environment cleanliness (e.g. steam cleaning)
What is the management of moderate persistent (Step 3) asthma?
- For moderate persistent asthma, the preferred controller therapies are either low-doses of an inhaled glucocorticoid plus a LABA, or medium doses of an inhaled glucocorticoid.
- Addition of an inhaled long-acting muscarinic antagonist (LAMA; tiotropium) to an inhaled glucocorticoid has proven equally effective compared to the combination of an inhaled glucocorticoid and LABA
What is the management of severe persistent (Step 4 or 5) asthma?
For severe persistent asthma, the preferred controller treatments are medium (Step 4) or high (Step 5) doses of an inhaled glucocorticoid in combination with a LABA
Initial treatment of mild exacerbation of asthma?
Mild exacerbations, use a nasal cannula or face mask to ensure oxygen saturation is above 94%. Furthermore, give inhaled salbutamol 1-3 doses every 20 min.
Initial treatment of moderate exacerbations of asthma?
Start oral corticosteroids early, ensure O2 sat are above 94%, give inhaled salbutamol 3 doses every 20 minutes also known as ‘back-to-back’ salbutamol, and consider giving ipratropium (3 doses in 1 hr)
Initial treatment of severe exacerbations of asthma?
Similarly start oral corticosteroids (prednisone 40-60mg) early or consider IV steroids (methylprednisolone 125mg – if you are thinking ICU), consider giving 100% oxygen which may require a different mask, give continuous aerosolized salbutamol and back-to-back ipratropium 3 doses every 20 minutes, keep the patient NPO and consider IV magnesium sulphate (2g IV over 20m as bolus, good at dilating smooth muscles - S/E – hypotension). CALL PICU
What is Status Asthmaticus?
Severe condition in which asthma attacks follow one another without pause = hypoxemia + hypercarbia + secondary respiratory failure
What is the presentation of status asthmaticus?
Usually present a few days after the onset of a viral resp illness, following exposure to potent allergen/irritant, or after exercise in a cold environment.
What is the pathogenesis of status asthmaticus?
Acute asthma exacerbation that remains unresponsive to initial treatment with bronchodilators
What is the management of status asthmaticus?
- Oxygen: keeps oxygen saturation >90%
- Bronchodilator: salbutamol MDI + spacer 5 puffs (<20kg) or 10 puffs (>20kg) q20min x3 + Atrovent (ipratropium) if severe via MDI + spacer 3 puffs or 6puffs q20min with Ventolin
- Steroids: as soon as possible after arrival, prednisone 1-2mg/kg x5d or dexamethasone (0.3mg/kg/d x5d), if severe give IV
- If Critically Ill or Not Responding: give IV bolus then infusion of MgSO4; can also give IV B2 agonist if critically ill and not responding to above
What is bronchiolitis?
LRTI + usually in children <2yo with wheezing + signs of respiratory distress
Epideimology of bronchiolitis?
Most common LRTI in infants, affects 50% of children in the first 2 years + peak incidence at 6mo + in winter/early spring – symptom peak at day 3-4 of illness
Pathophysiology of bronchiolitis?
Swelling and mucous production - If you have tiny vessels and they swell a bit it’s very hard to get air in or out. NOT bronchospasm
Etiology of bronchiolitis?
RSV (>50%) + (para)influenza + rhinovirus + adenovirus + M. Pneumoniae (rare)
Presentation of bronchiolitis?
First episode of wheezing in infant <12 months. Prodrome URTI with cough + rhinorrhea + possible fever + feeding difficulties/irritability + wheezing/crackles/respiratory distress + tachypnea + tachycardia + retractions + reduced air entry
Investigations for bronchiolitis?
Usually none, unless you’re unsure of diagnosis; CXR (only if severe, poor response to therapy, chronic episode to see air trapping + peri-bronchial thickening + atelectasis + increased linear markings) + consider NPA Swab only if you’d consider starting Tamiflu or maybe if admitting to hospital for infection control + consider CBCd (WBC can be normal though)
Do children with bronchiolitis respond to Atrovent (ipratropium) or steroids?
No
Treatment of bronchiolitis?
- Mild-Mod Distress: supportive (PO/IV hydration, monitor urine output + antipyretics for fever + regular/humidified O2 to SpO2 >90%)
- Severe Distress: above +/- intubation + ventilation PRN + consider Rebetol (Ribavirin) in high risk groups (bronchopulmonary dysplasia, CHD, congenital lung disease, immunodeficient)
- Monthly RSV-Ig or palivizumab (Monoclonal Ab against glycoprotein of RSV) = protective against severe disease in high risk groups, case fatality is rare
Indications for hospitalization with bronchiolitis?
- Hypoxia (<92% on initial presentation)
- Persistent resting tachypnea + retractions after several salbutamol masks
- Past history of chronic lung disease + hemodynamically significant cardiac disease + neuromuscular problem + immunocompromised
- Young infants <6mo (unless extremely mild)
- Significant feeding problems
- Social problem (inadequate level of care at home)
Presentation of bacterial tracheitis?
Similar symptoms as croup, but more rapid deterioration with high fever + toxic appearance + dose not respond to croup treatment
Investigations of bacterial tracheitis?
Clinical diagnosis + endoscopy (= definitive diagnosis)
Treatment of bacterial tracheitis?
Usually requires intubation + IV abx (third-generation cephalosporin (eg. cefotaxime, ceftriaxone))
Etiology of bacterial tracheitis?
S. aureas + H. influenzae + alpha-hemolytic strep + Pneumococcus + M. catarrhalis
What are the typical, school-aged and bad etiologies of pneumonia in children?
- Typical – strep pneumoniae, H influenza
- School aged – mycoplasma pneumoniae, chlamydia pneumoniae
- BAD – Group A Strep/GBS or Staph aureus
Presentation of pneumonia in children?
- Fever + cough + tachypnea; if bacterial, then may have fever + chills + dyspnea
- Incidence greatest in 1st year of life
- The most common cause of bacterial pneumonia is a viral infection that got better and then worse
- High persistent fevers that are getting worse
- Localized crackles – Diffuse crackles suggest more transmitted upper airway sounds - If you listen in face and neck and the crackles are worse there, probably an upper airway sound
- Decreased Air Entry
- Sepsis
Investigations of pneumonia in children?
SpO2, CXR (shows diffuse, streaky infiltrates bilaterally) +/- CBC + CRP (^WBC/Neuts ~ bacterial) + blood culture
Treatment of pneumonia in children?
- Sick: IV ampicillin or ceftriaxone
- School aged (mycoplasma pneumoniae, chlamydia pneumoniae): azithromycin/clarithromycin
- Not sick: amoxicillin PO
- Aspiration (anaerobes, E.coli): Mild: No treatment Moderate/severe: penicillin + gent (if hospital acquired)
What is cystic fibrosis?
Autosomal recessive + CFTR gene found on Chromosome 7 resulting in a dysfunctional chloride channel on the apical membrane of cells >> leads to relative dehydration of airway secretions, resulting in impaired mucociliary transport and airway obstruction
What is the presentation of cystic fibrosis in the neonate?
Meconium ileus + prolonged jaundice + antenatal bowel perforation
What is the presentation of cystic fibrosis in the infant?
Pancreatic insufficiency with steatorrhea and FTT (despite voracious appetite) + anemia + hypoproteinemia + hyponatremia
What is the presentation of cystic fibrosis in the child?
Heat intolerance + wheezing or chronic cough + recurrent chest infections (S. aureus, P. aeruginosa, H. influenzae) + hemoptysis + nasal polyps + distal intestinal obstruction syndrome + rectal prolapse + clubbing
What is the presentation of cystic fibrosis in the older child?
Older: COPD + infertility (males) + decreased fertility (females)
Investigations for cystic fibrosis?
Newborn screen (immunoreactive trypsinogen), sweat chloride test (x2)
Management of cystic fibrosis?
- genetic counselling +
- Nutritional Counseling: high calorie diet + pancreatic enzyme replacements + fat soluble vit supplements (ADEK)
- Chest Disease: physiotherapy + postural drainage + exercise + bronchodilators + aerosolized DNAse + inhaled hypertonic saline + antibiotics + lung transplant
Complications of cystic fibrosis?
Complications: respiratory failure + pneumothorax (poor prognostic sign) + cor pulmonale (late) + pancreatic fibrosis with DM + gallstones + cirrhosis with portal HTN + infertility (male) + early death (median survival 46.6yr)
Presentation (including 4 Key Features) of congestive heart failure in children?
Tachycardia + tachypnea + cardiomegaly + hepatosplenomegaly; can also get FTT + alterations in peripheral pulses
What is the etiology of chronic congestive heart failure in children?
Chronic: Congenital Heart Disease – ductal-dependent lesion (e.g. critical aortic stenosis), or decompensated L -> R shunt (e.g. large VSD)
What is the etiology of acute congestive heart failure in children?
- Myocarditis - most commonly viral infection (may have viral URTI symptoms at presentations)
- Cardiomyopathy
What are the investigations for congestive heart failure in children?
- CXR (cardiomegaly/pulmonary venous congestion) + ECG (sinus tachycardia + signs of underlying cause) + ECHO(structural/functional assessment)
- Labs: CBC + lytes + BUN/Cr + liver panel
What are the non-pharmacological and pharmacological treatments for congestive heart failure in children?
- Non-Pharmacological: sit-up + oxygen + salt/water restriction + increased caloric intake
- Pharmacological: diuretics + afterload reduction + B-blockers + correct underlying cause!
