Peds Exam 3
Orthopedics
Scoliosis
Classic Presentation:
Often asx.
Noticeable asymmetry in:
Shoulder height
Scapular prominence
Waistline.
Typically seen in adolescent females.
Diagnosis:
Adam’s Forward Bend Test: Scoliometer > 5-7° indicates need for X-ray.
Standing PA/Lateral spine X-rays are performed.
Cobb angle > 10° defines scoliosis.
Treatment:
< 20°: Observation and serial X-rays.
20° - 40°: Bracing in skeletally immature patients to prevent progression.
40° - 50°: Surgical evaluation (spinal fusion).
Spondylolysis / Spondylolisthesis
Classic Presentation:
An adolescent athlete (gymnast, football lineman, weightlifter) with insidious onset of low back pain, exacerbated by hyperextension.
Diagnosis:
Spondylolysis:
A defect/stress fracture in the pars interarticularis.
Oblique lumbar X-rays show the classic "Scottie dog with a collar" sign.
Spondylolisthesis:
Involves bilateral pars defects leading to forward slipping of one vertebra over another (usually L5 over S1).
Lateral X-ray is used to grade the slip.
Treatment:
Activity restriction, core strengthening, physical therapy, NSAIDs.
Bracing for acute fractures.
Surgery only for high-grade slips or refractory pain.
Scheuermann Disease (Juvenile Kyphosis)
Classic Presentation:
A teenager with poor posture, rigid thoracic kyphosis ("hunchback"), and aching back pain worsened by activity.
Diagnosis:
Lateral spine X-ray shows rigid kyphosis > 45° with anterior wedging of 3 or more consecutive vertebrae.
May see Schmorl nodes (herniation of disc into the vertebral body).
Treatment:
Physical therapy and posture exercises.
Milwaukee brace for curves between 50°-75°.
Surgery for curves >75° or with severe pain.
Nursemaid's Elbow (Radial Head Subluxation)
Classic Presentation:
Typically occurs in children aged 1-4 years.
History of a "pulling" injury (e.g., swinging a child by the arms).
Child holds the arm slightly flexed and pronated against their body, refusing to use it.
No focal swelling or bruising.
Diagnosis:
Clinical diagnosis.
X-rays are usually normal, only needed if reduction fails or a fracture is suspected.
Treatment:
Manual reduction using:
Hyperpronation technique (often higher success rate).
Supination-flexion technique.
Child typically starts using the arm normally within minutes.
Ankle Sprains
Classic Presentation:
History of an inversion injury.
Symptoms include pain, swelling, and localized tenderness, predominantly over the Anterior Talofibular Ligament (ATFL).
Diagnosis:
Clinical diagnosis.
Use the Ottawa Ankle Rules to determine if an X-ray is necessary (pain in malleolar zone + inability to bear weight, or bone tenderness at specific malleolar/midfoot zones).
Treatment:
RICE Protocol
NSAIDs and early physical therapy/range of motion exercises.
Pediatric Fractures
Key Differences:
Children have:
Thicker periosteum
Highly vascular bone (faster healing & high remodeling potential).
Classic Types of Fractures:
Torus (Buckle) Fracture:
Buckling of the cortex due to axial compression force, stable.
Greenstick Fracture:
Incomplete fracture with bowing; cortex broken on one side and intact on the other.
Salter-Harris Fracture Classification
Types:
I: Fracture completely through the growth plate.
II: Through the growth plate and metaphysis. (Most common).
III: Through the growth plate and epiphysis.
IV: Through metaphysis, growth plate, and epiphysis.
V: Crush injury of the growth plate, worst prognosis for growth arrest.
Congenital Hip Dysplasia / Developmental Dysplasia of the Hip (DDH)
Classic Presentation:
Infant with asymmetric thigh/gluteal skin folds or limited hip abduction.
Risk Factors include:
Breech presentation.
Female sex.
Family history.
Diagnosis:
Barlow maneuver: Dislocates the hip (push backward - "Bad").
Ortolani maneuver: Reduces the hip (abduct/pull forward - hear a "clunk" - "Open").
Imaging:
Ultrasound if < 6 months (bones aren't ossified yet).
AP X-ray if > 6 months.
Treatment:
< 6 months: Pavlik harness to maintain abduction/flexion.
6-15 months: Closed reduction + spica casting.
Slipped Capital Femoral Epiphysis (SCFE)
Classic Presentation:
Typically in obese adolescent males (10-16 years old) during a growth spurt.
Insidious, dull pain in the hip, groin, thigh, or knee, often with a painful limp.
The leg is usually held in external rotation.
Diagnosis:
AP and frog-leg lateral X-rays of the pelvis.
Look for the classic "ice cream slipping off the cone" appearance (posterior and inferior displacement of the femoral head).
Treatment:
Strict non-weight bearing immediately (crutches/wheelchair).
Orthopedic consultation for surgical pinning in situ.
Complication: Avascular necrosis.
Legg-Calve-Perthes Disease
Classic Presentation:
Typically in younger males (4-10 years old).
Presents with an insidious onset of a painless limp or intermittent ache in the groin/anterior thigh.
Diagnosis:
Idiopathic avascular necrosis (osteonecrosis) of the femoral head.
Early X-rays may be normal, but later may show:
Increased density
Widening of the cartilage space
Flatting/fragmentation of the femoral head (crescent sign).
Treatment:
Self-limiting as the bone revascularizes over years.
Focus on maintaining the femoral head rounded and in the acetabulum:
Observation
Protected weight-bearing
Physical therapy or sometimes bracing/surgery in severe cases.
Transient Synovitis
Classic Presentation:
Typically occurs in children aged 3-8 years old.
Sudden onset of a limp and hip/groin pain, often following a mild viral upper respiratory or GI infection.
Child is usually well-appearing and afebrile (or low-grade temp).
Diagnosis:
Diagnosis of exclusion; must rule out Septic Arthritis.
Labs (WBC, CRP, ESR) are usually normal or slightly elevated.
Ultrasound may show a joint effusion.
Treatment:
Supportive care, rest, and NSAIDs (ibuprofen).
Usually resolves completely in 1-2 weeks.
Septic Arthritis
Classic Presentation:
Acute onset of severe joint pain, swelling, erythema, warmth, high fever, and absolute refusal to bear weight.
The child looks toxic.
Diagnosis: Use the Kocher Criteria for the hip to differentiate from transient synovitis:
Non-weight bearing
ESR > 40
Fever > 38.5°C (101.3°F)
WBC > 12,000.
Definitive Diagnosis: Arthrocentesis (joint aspiration) showing cloudy/purulent fluid, WBC > 50,000, mostly PMNs, and positive Gram stain/culture (most commonly Staphylococcus aureus).
Treatment:
Medical emergency! Requires prompt orthopedic surgical washout (I&D) and prolonged IV antibiotics to prevent permanent joint destruction.
Femoral Anteversion
Classic Presentation:
Most common cause of "in-toeing" (pigeon-toed gait) in children aged 3-6 years.
The child classically sits in a "W" position on the floor. Both knees and toes point inward when walking.
Diagnosis:
Clinical diagnosis. Physical examination shows significantly increased internal rotation of the hip and decreased external rotation.
Treatment:
Reassurance. Spontaneously resolves in almost all children by age 8-10. Parents should discourage "W" sitting.
Genu Valgum vs. Genu Varum
Genu Varum (Bowlegs):
Physiologic (normal) from birth up to age 2.
Pathological if severe, unilateral, or persists well past age 2 (consider Rickets or Blount disease).
Genu Valgum (Knock-knees):
Physiological from ages 2 to 7. Max valgus usually around age 3-4.
Spontaneously corrects by age 7-8.
Osgood-Schlatter Disease
Classic Presentation:
Active, athletic adolescent (10-15 years old), often in jumping/running sports (basketball, soccer), complaining of anterior knee pain.
Diagnosis:
Clinical diagnosis with:
Tenderness, swelling, and a prominent bump right over the tibial tubercle.
Pain reproducible by extending the knee against resistance.
X-rays are usually unnecessary but may show fragmentation of the tubercle.
Treatment:
RICE, NSAIDs, quadriceps/hamstring stretching, protective knee pad.
Self-limiting and resolves when the tibial growth plate closes.
Clubfoot vs. Metatarsus Adductus
Clubfoot:
A rigid deformity.
Foot is plantar-flexed (equinus), heel turned inward (varus), and forefoot turned inward (adductus).
Cannot passively manipulate it into a normal position.
Treatment is immediate serial Ponseti casting, often followed by Achilles tenotomy.
Metatarsus Adductus:
A flexible deformity.
Only the forefoot turns inward (medial deviation); heel is normal.
Can passively stretch the foot back to a neutral position.
Usually resolves on its own with parental stretching exercises.
Osteogenesis Imperfecta
Classic Presentation:
An autosomal dominant genetic defect in Type I collagen.
Children present with frequent, easily sustained fractures.
Diagnosis:
Clinical features include:
Blue sclerae
Early hearing loss
Abnormal, discolored teeth (dentinogenesis imperfecta).
Important to distinguish fractures from child abuse.
Treatment:
Bisphosphonates to increase bone density, orthopedic management of fractures, and physical therapy.
General Pediatric Musculoskeletal Disorders
Chronic Arthritis:
Lasting > 6 weeks in kids < 16 years old.
Systemic (Still's Disease):
Daily spiking fevers (Quotidian), salmon-colored macular rash, hepatosplenomegaly, and lymphadenopathy.
Oligoarthritis:
Involves 4 or fewer joints (often large joints like knees/ankles).
At risk for asymptomatic anterior uveitis requiring routine slit-lamp eye exams to prevent blindness!
Polyarthritis:
Involves 5 or more joints, can resemble adult Rheumatoid Arthritis; can be RF positive or negative.
Enthesitis-Related:
Inflammation at tendon insertions (e.g., Achilles). Associated with HLA-B27 and risk progressing to ankylosing spondylitis.
Psoriatic:
Accompanied by a psoriasis rash, dactylitis ("sausage digits"), or nail pitting.
Reactive Arthritis (formerly Reiter Syndrome)
Classic Presentation:
"Can't see, can't pee, can't climb a tree" triad:
Conjunctivitis/uveitis
Urethritis
Oligoarthritis.
Etiology:
Occurs 1-4 weeks after a GI infection (Salmonella, Shigella, Campylobacter) or GU infection (Chlamydia).
Diagnosis:
Clinical diagnosis.
Joint fluid is sterile (aseptic).
Often HLA-B27 positive.
Treatment:
NSAIDs for arthritis; treat the underlying infection if still active (e.g., antibiotics for Chlamydia).
IgA Vasculitis (Henoch-Schönlein Purpura - HSP)
Classic Presentation:
Most common childhood systemic vasculitis, often following URI.
Classic tetrad:
Palpable purpura (symmetrical on the lower extremities and buttocks)
Arthritis/arthralgia
Abdominal pain (at high risk for intussusception)
Renal disease (hematuria/proteinuria)
Diagnosis:
Clinical diagnosis.
Platelet count is normal (distinguishing from ITP).
Urinalysis mandatory for assessing kidney involvement.
Treatment:
Primarily supportive (hydration, NSAIDs for joint pain).
Corticosteroids for severe GI or renal symptoms.
Kawasaki Syndrome
Classic Presentation:
Acute medium-vessel vasculitis.
Memorize "CRASH & Burn":
Conjunctivitis (bilateral, non-exudative)
Rash (polymorphous)
Adenopathy (cervical, unilateral > 1.5cm)
Strawberry tongue (and cracked, red lips)
Hand/foot changes (edema, erythema, desquamation)
Burn: High Fever for $$ 5 days.
Complication:
Coronary artery aneurysms; every patient needs an echocardiogram.
Treatment:
IVIG and high-dose aspirin (exception to the "no aspirin in kids" rule!).
Pediatric Systemic Lupus Erythematosus (pSLE)
Classic Presentation:
Multi-system autoimmune disease.
Signs include:
Malar rash that spares nasolabial folds
Photosensitivity
Oral ulcers
Arthritis
Renal disorder (lupus nephritis).
Diagnosis:
ANA is the best screening test (highly sensitive).
Anti-dsDNA and Anti-Smith highly specific. Check for decreased complement (C3/C4) during disease flares.
Treatment:
Strict sun protection, NSAIDs, Hydroxychloroquine.
Corticosteroids for acute flares, heavier immunosuppressants for organ involvement.
Sjogren Syndrome
Classic Presentation:
Autoimmune destruction of exocrine glands, rare in young kids.
Triad includes:
Dry eyes (keratoconjunctivitis sicca)
Dry mouth (xerostomia)
Parotid gland enlargement.
Diagnosis:
Positive Anti-Ro (SSA) and Anti-La (SSB) antibodies.
Schirmer test shows decreased tear production.
Treatment:
Symptomatic relief with artificial tears, frequent water sipping, sugar-free lozenges, and strict dental hygiene.
Infectious Disease: Fever (0-3 months) Workup
Neonates (< 28 days):
Automatic hospital admission for full sepsis workup (blood cultures, urinalysis/urine culture, LP for CSF analysis/culture).
Empiric Treatment: IV Ampicillin + Cefotaxime (or Gentamicin).
Important Note: Never use Ceftriaxone in neonates due to the risk of biliary sludging and kernicterus.
29-90 days:
Management depends on risk stratification criteria. If infant looks well and screening labs (WBC, UA, inflammatory markers) are reassuring, they may avoid an LP and be closely followed as outpatient.
TORCH Infections
Toxoplasmosis (Toxoplasma gondii):
Source: Cat feces, soil, undercooked meat, unpasteurized milk.
Classic Triad: Chorioretinitis, hydrocephalus, intracranial calcifications.
Treatment: Pyrimethamine, sulfadiazine, + folinic acid (Leucovorin).
Syphilis:
Transmission: Across placenta or via contact with infectious lesions during birth.
Early (< 2 years): "Snuffles" (severe rhinitis), maculopapular rash on palms and soles, jaundice, hepatomegaly +/- splenomegaly.
Late: (untreated, > 2 years): SNHL, Hutchinson teeth, saddle nose, saber shins.
Treatment: Benzathine Penicillin G.
HIV/AIDS:
Presentation: Often asymptomatic at birth, later presents with:
Failure to thrive
Persistent thrush
Generalized LAD
Opportunistic infections (like PCP pneumonia).
Prevention: Maternal ART during pregnancy, IV Zidovudine during delivery.
Rubella (German Measles):
Presentation: Blueberry muffin rash.
Classic Triad: SNHL, cataracts, congenital heart defect (PDA most common).
CMV:
Key Fact: Most common congenital viral infection. Leading cause of non-hereditary SNHL.
Signs: Periventricular calcifications, microcephaly, petechiae.
Treatment: IV Ganciclovir.
HSV (Herpes Simplex Virus):
Source: Typically transmitted during vaginal delivery from a shedding mother or rarely acquired in utero.
Patterns:
SEM: Vesicles localized to Skin, Eyes, Mouth.
CNS w/o SEM: Meningoencephalitis (seizures, lethargy).
Disseminated: Sepsis-like presentation with multi-organ failure.
Diagnosis: Viral culture (Tzanck smear, PCR); HSV PCR of CSF = test of choice for CNS involvement.
Treatment: IV Acyclovir.
Viral Exanthems
Rubella (German Measles):
Pathogen: Togavirus.
Presentation: Mild URI prodrome followed by a pink, maculopapular rash that spreads cephalocaudally, sparing palms and soles; lasts ~3 days.
Key Finding: Prominent postauricular and suboccipital LAD. Forchheimer spots (red spots on soft palate, seen on day 1 of rash).
Rubeola (Measles):
Pathogen: Paramyxovirus.
Presentation: High fever + malaise with 3 C's: Cough (dry), Coryza, Conjunctivitis.
Key Finding: Koplik spots (tiny blue-white spots on buccal mucosa) appear 1-2 days before rash.
Rash: Starts at hairline, spreads downward (cephalocaudally) and outward (centrifugally).
Erythema Infectiosum (Fifth Disease):
Pathogen: Parvovirus B19.
Presentation: Mild viral symptoms followed by a bright red "slapped cheek" rash. Days later, lacy reticular rash on trunk, extremities, buttocks (sparing palms and soles).
Treatment: Supportive.
Roseola Infantum (Sixth Disease):
Pathogen: HHV-6.
Presentation: Sudden high fever (can cause febrile seizures) for 3-5 days, abruptly resolves, then rash appears (discrete, rose-pink macules starting on neck/trunk, spreading to face, extremities, scalp).
Key Finding: Only viral exanthem that begins on the trunk.
Infectious Mononucleosis:
Pathogen: EBV.
Presentation: Fever, pharyngitis +/- exudates, profound fatigue, splenomegaly, atypical lymphocytosis, posterior cervical LAD.
Diagnosis: Heterophile antibody test (Monospot).
High Yield: Splenomegaly is common—must avoid contact sports for 3-4 weeks to prevent splenic rupture; misprescribed Amoxicillin will cause a diffuse maculopapular rash.
Varicella (Chickenpox):
Pathogen: VZV.
Presentation: Prodrome of fever, malaise, anorexia; intensely pruritic rash described as "dew drops on a rose petal" (vesicles on erythematous base).
Key Finding: Lesions appear in crops (different stages: macules, papules, vesicles, crusted-over lesions).
HSV (Herpes Simplex Virus - Skin/Mucosal):
Classic Presentation: Grouped, painful vesicles on erythematous base, often presents as herpetic gingivostomatitis in kids.
Diagnosis: Clinical. Tzanck smear shows multinucleated giant cells; viral culture or PCR is definitive.
Treatment: Oral Acyclovir or Valacyclovir (most effective within 72 hours). Supportive care.
Gianotti Crosti
Classic Presentation:
Acute symmetric eruption of flat-topped, skin-colored papules or papulovesicles on cheeks, buttocks, and extensor surfaces.
Tick-Borne Infections
Lyme Disease
Pathogen: Borrelia burgdorferi (transmitted by Ixodes deer tick).
Presentation:
Stage 1 (Early Localized): Erythema migrans (classic "bullseye" rash) 2-3 weeks after infection.
Stage 2 (Early Disseminated): Multiple EM lesions, flu-like symptoms, facial nerve (CN VII) palsy, or AV block several weeks to months later.
Stage 3 (Late): Migratory polyarthritis (common late manifestation, especially in large joints like the knee).
Treatment: Doxycycline is drug of choice for all ages (AAP updated guidelines allowing short courses < 21 days of Doxy for kids < 8). Amoxicillin is an alternative.
Rocky Mountain Spotted Fever (RMSF)
Pathogen: Rickettsia rickettsii (Dog/wood tick).
Presentation:
High fever, severe headache, blanching erythematous maculopapular rash starting on wrists/ankles (including palms and soles) and spreads centrally to trunk.
Treatment: Doxycycline is FIRST LINE for all ages; do not wait for serology to start treatment!
Bacterial Skin Infections
Folliculitis
Presentation:
Superficial infection of hair follicles causing tiny pustules.
Often S. aureus, or Pseudomonas if history of hot tub use.
Treatment: Warm compresses, topical Mupirocin.
Impetigo
Presentation:
Highly contagious, superficial skin infection. Classic "honey-colored crusted" lesions, typically around nose and mouth.
Usually caused by S. aureus or Group A Strep.
Treatment:
Topical Mupirocin for localized disease; oral Cephalexin if extensive.
Furuncle / Carbuncle
Presentation:
Furuncle (boil): deep hair follicle infection.
Carbuncle: cluster of interconnected furuncles; both primarily S. aureus.
Treatment:
Warm compresses. Mainstay is I&D; add antibiotics (TMP-SMX or Doxy if older than 8) if surrounding cellulitis or systemic signs.
Scarlet Fever
Presentation:
Delayed complication of Group A Strep pharyngitis.
Starts as tonsillar infection → "sandpaper" rash; spares face but features circumoral pallor and "strawberry tongue".
Treatment:
Penicillin VK (1st line) or Amoxicillin (preferred in kids).
Cellulitis
Presentation:
Deep dermal/subcutaneous infection. Poorly demarcated spreading erythema, swelling, warmth, and tenderness.
Treatment:
Oral antibiotics targeting Strep and Staph (Cephalexin). If MRSA suspected (purulent drainage), use TMP-SMX, Clindamycin, or Doxycycline.
Erysipelas
Presentation:
Superficial dermal infection with pronounced lymphatic involvement.
Has sharply demarcated, raised edges; often affects face or lower legs, usually caused by Group A Strep.
Treatment:
Penicillin or Amoxicillin.
Systemic / Deep Infections
Meningococcemia
Pathogen: Neisseria meningitidis.
Presentation:
Medical emergency with abrupt high fever, chills, rapidly progressive petechial/purpuric rash (non-blanching).
Can rapidly lead to shock, DIC, and adrenal hemorrhage (Waterhouse-Friderichsen syndrome).
Treatment:
Blood cultures and immediate IV antibiotics (Ceftriaxone + Vancomycin). Do not delay antibiotics for lumbar puncture if unstable.
Cat Scratch Disease
Pathogen: Bartonella henselae.
Presentation:
Primary papule at scratch site; followed by significant regional LAD (usually axillary or cervical), often tender and may suppurate.
Treatment:
Usually self-limiting; Azithromycin can speed resolution.
Acute Hematogenous Osteomyelitis
Presentation:
Infection of the bone, MCC is S. aureus (Salmonella in sickle cell patients, P. aeruginosa in foot punctures).
Presents with fever, localized bone pain, point tenderness over metaphysis of long bone, refusal to bear weight.
Diagnosis:
Elevated CRP/ESR; MRI is most sensitive and specific. Early X-rays are usually normal.
Blood cultures are essential.
Treatment:
Prolonged IV antibiotics (e.g., Cefazolin, Nafcillin, Vancomycin).
Septic Arthritis (ID perspective)
Common bacterial cause: S. aureus.
Most affected joints: Knee and Hip.
Key takeaway: It is an infection of the joint space itself.
Diagnosis requires arthrocentesis showing purulent fluid with WBC > 50,000. Immediate surgical washout and IV antibiotics necessary to save joint cartilage.
Endocrinology
Constitutional Growth Delay vs. Familial Short Stature vs. Growth Hormone Deficiency
Constitutional Growth Delay:
Normal growth velocity, delayed bone age.
Predicted adult height appropriate for familial pattern.
Family history of late puberty; bone age is younger than chronological age.
They will reach normal adult height.
Familial Short Stature:
Parents are short; bone age appropriate for chronological age.
Normal growth velocity and predicted adult height.
Key finding: bone age equals chronological age.
Growth Hormone (GH) Deficiency:
Slowed height velocity, delayed bone age; requires GH replacement therapy.
Acromegaly / Gigantism
What it is: Excess secretion of Growth Hormone usually from a pituitary adenoma.
Gigantism: Occurs before epiphyseal growth plates close (in children), leading to massive linear height.
Acromegaly: Occurs after growth plates close (adults/late teens), leads to growth of hands, feet, jaw (prognathism), and internal organs.
Diagnosis: Elevated IGF-1 (Insulin-like Growth Factor 1) is the best initial screening test; confirm with MRI of the pituitary.
Tanner Stages
Girls: Thelarche (breast budding) typically first sign of puberty, marks Tanner Stage 2. Menarche usually occurs at Tanner Stage 4.
Boys: Testicular enlargement is the first sign of puberty, marks Tanner Stage 2.
Precocious Puberty
Definition: Onset of secondary sexual characteristics before age 8 in girls and age 9 in boys.
Subtypes:
Central: Early maturation of the HPO axis (high LH/FSH). Often idiopathic in girls; brain MRI in boys to rule out CNS tumor.
Peripheral: Gonads/adrenal glands making sex hormones independently of the brain (low LH/FSH); e.g., cysts or tumors.
Delayed Puberty
Definition: No signs of puberty by age 13 in girls or 14 in boys; or an arrest in maturation.
Causes:
Primary hypogonadism: Turner’s, Klinefelter, gonadal injury from chemo, radiation, autoimmune, or cryptorchidism.
Secondary hypogonadism: deficient GnRH secretion or pituitary disease.
Most Common Cause: Constitutional Growth Delay.
Premature Thelarche & Premature Adrenarche
Thelarche: Isolated early breast development without other signs of puberty (no growth spurt, normal bone age). Benign; observe.
Adrenarche: Isolated early pubic/axillary hair or body odor. Benign; observe.
Diabetes Insipidus (DI)
What it is: Inability to concentrate urine, leading to massive polyuria and polydipsia (thirst).
Central DI: Posterior pituitary not making ADH (vasopressin), often due to head trauma or a tumor.
Nephrogenic DI: Kidneys ignoring ADH, often due to lithium toxicity or hypercalcemia.
Diagnosis: Fluid deprivation test (urine remains dilute); give Desmopressin (synthetic ADH): if urine concentrates, it’s Central; if stays dilute, it’s Nephrogenic.
Hypothyroidism
Congenital (Cretinism):
Picked up on newborn screening; if missed, presents with hypotonia, large tongue (macroglossia), umbilical hernia, severe developmental delay.
Acquired (Hashimoto's):
Autoimmune destruction; high TSH, low Free T4; presents with fatigue, cold intolerance, constipation, weight gain, goiter.
Treatment: Levothyroxine.
Hyperthyroidism
Most Common Cause: Graves' Disease (autoimmune TSH-receptor antibodies).
Labs: Low TSH, high Free T4.
Presentation: Weight loss despite increased appetite, heat intolerance, palpitations, tachycardia, exophthalmos.
Treatment: Methimazole (preferred in kids) or PTU. Radioactive iodine ablation for refractory cases.
Cushing's Syndrome vs. Cushing's Disease
Syndrome: Clinical state of excess cortisol from any cause (most commonly iatrogenic from prolonged steroids).
Disease: Excess cortisol specifically caused by ACTH-secreting pituitary microadenoma.
Presentation: Moon facies, buffalo hump, central obesity with thin extremities, purple abdominal striae, hypertension.
Diagnosis: 24-hour urine free cortisol or low-dose dexamethasone suppression test.
Addison Disease
What it is: Primary adrenal insufficiency (autoimmune destruction of adrenal cortex).
Labs: Low cortisol, low aldosterone, high ACTH; hyponatremia and hyperkalemia.
Presentation: Profound fatigue, hypotension, weight loss, hyperpigmentation (darkening of skin/creases).
Diagnosis: Cosyntropin (synthetic ACTH) stimulation test.
Congenital Adrenal Hyperplasia (CAH)
Most Common Type: 21-hydroxylase deficiency.
Presentation: Adrenal gland can't make cortisol/aldosterone, shunts into making androgens:
Female infants (XX): Ambiguous genitalia (virilization).
Both sexes: Severe salt-wasting crisis in 1-2 weeks (hypotension, vomiting, hyponatremia, hyperkalemia).
Diagnosis: Elevated 17-hydroxyprogesterone (17-OHP).
PCOS (Polycystic Ovary Syndrome)
Presentation:
Adolescent female with oligomenorrhea/amenorrhea, signs of hyperandrogenism (acne, hirsutism), often obesity/insulin resistance.
Diagnosis: Rotterdam criteria; pelvic ultrasound shows "string of pearls" (polycystic ovaries).
Treatment: Weight loss, combined Oral Contraceptive Pills (OCPs), Metformin for insulin resistance.
DM Type 1 vs. Type II
Type 1: Autoimmune destruction of pancreatic beta cells (absolute insulin deficiency); high risk of DKA.
Classic presentation: polyuria, polydipsia, polyphagia, weight loss; positive anti-GAD antibodies.
Treatment: Lifelong insulin.
Type 2: Insulin resistance, strongly associated with childhood obesity; physical exam often show Acanthosis nigricans (hyperpigmented plaques).
Treatment: Lifestyle modifications, Metformin.
Hyperlipidemia
Key Guideline: Universal screening recommended for all children between ages 9-11 and again between ages 17-21.
Treatment: Always start with diet and lifestyle modifications (CHILD diet); statins are reserved for kids >10 with severe elevations (LDL > 190, or > 160 with family history/risk factors).
Urology/Nephrology
Hypospadias/Epispadias
Classic Presentation:
Abnormal placement of urethral meatus; in hypospadias, the opening is on the ventral aspect of the penis, while in epispadias, it is on the dorsal aspect.
Hypospadias results from incomplete fusion of urethral folds during fetal development.
Diagnosis: Clinical diagnosis on newborn physical exam.
Treatment: Surgical correction typically between 6-12 months of age.
Important: Circumcision is contraindicated initially due to the foreskin being needed for surgical repair.
Cryptorchidism
Classic Presentation:
Empty scrotal sac on one or both sides in a newborn; failure of testes to descend from the retroperitoneal abdomen.
Diagnosis:
Physical exam (palpating inguinal canal), ultrasound if testes are non-palpable.
Treatment:
Observation until 6 months (spontaneous descent often occurs).
Orchiopexy if not descended by 6-12 months to optimize fertility and reduce risk of testicular cancer.
Priapism
Classic Presentation:
Prolonged, painful, unwanted erection lasting > 4 hours without sexual stimulation; most frequently associated with sickle cell disease.
Diagnosis: Clinical evaluation; corporal blood gas reveals hypoxia and acidosis.
Treatment: Hydration, oxygenation, pain control; corporal aspiration and irrigation with sympathomimetic (like phenylephrine) if conservative measures fail.
Hydrocele
Classic Presentation:
Painless scrotal swelling, easily transilluminates with a penlight; fluid accumulation in the tunica vaginalis.
Diagnosis: Scrotal ultrasound; transillumination is key.
Treatment: Most non-communicating hydroceles resolve spontaneously by 1 year. Surgical repair indicated if it persists beyond 1-2 years or is a communicating hydrocele associated with inguinal hernia.
Varicocele
Classic Presentation:
"Bag of worms" sensation in scrotum, typically on left side; worsens with standing, improves when supine.
Diagnosis: Clinical exam in standing position; scrotal ultrasound can confirm.
Treatment: Observation for most; surgery (varicocelectomy) indicated if there is testicular growth arrest, bilateral involvement, or significant pain.
Phimosis/Paraphimosis
Classic Presentation:
Phimosis: Inability to retract foreskin over glans; normal in infants/youth.
Paraphimosis: Retracted foreskin trapped behind coronal sulcus, causing painful swelling; a urologic emergency.
Diagnosis: Clinical exam.
Treatment:
Phimosis: Gentle stretching; topical corticosteroids for pathologic phimosis.
Paraphimosis: Immediate manual reduction; dorsal slit procedure if manual reduction fails.
Circumcision
Classic Presentation/Indication:
Elective surgical removal of prepuce (foreskin).
Medical indications include recurrent balanoposthitis, pathologic phimosis, or recurrent UTIs in susceptible infants.
Procedure: Commonly performed with Gomco clamp, Mogen clamp, or Plastibell device.
Orchitis
Classic Presentation:
Unilateral or bilateral testicular pain, heavy swelling, erythema; often with fever and systemic symptoms. Historically associated with the Mumps virus.
Diagnosis: Clinical; scrotal ultrasound with Doppler to rule out testicular torsion (orchitis shows increased blood flow).
Treatment: Supportive care (rest, ice, elevation, NSAIDs) for viral causes; antibiotics if bacterial cause suspected (commonly associated with epididymitis).
Testicular Torsion
Classic Presentation:
Sudden, severe unilateral scrotal pain, swelling, high-riding testicle, nausea, vomiting; typically seen in early adolescents.
Diagnosis: Absent cremasteric reflex; scrotal Doppler ultrasound shows decreased or absent blood flow.
Treatment: Surgical emergency; requires operative detorsion and bilateral orchidopexy within 6 hours of symptom onset to save the testicle.
Epididymitis
Classic Presentation:
Gradual onset of unilateral posterior scrotal pain, swelling, erythema; positive Prehn sign (relief of pain with elevation of the scrotum).
Diagnosis: Urinalysis and culture (often shows pyuria or bacteriuria); scrotal ultrasound shows increased blood flow to epididymis.
Treatment: Antibiotics tailored to the pathogen (e.g., Ceftriaxone and Doxycycline for sexually active adolescents).
Nocturnal Enuresis
Classic Presentation:
Involuntary urination during sleep in a child aged 5 years or older (who should otherwise have achieved bladder control).
Diagnosis: Thorough clinical history and voiding diary; urinalysis to rule out organic causes (e.g., UTI, diabetes).
Treatment: Reassurance and behavioral modifications (fluid restriction before bed, scheduled voiding); enuresis alarms are the most effective long-term conditioning therapy. Desmopressin (DDAVP) can be used for short-term situations.
UTI
Classic Presentation:
Dysuria, urgency, frequency, suprapubic pain, foul-smelling urine; in neonates, may present as fever of unknown origin, irritability, or poor feeding.
Diagnosis: Urinalysis (positive leukocyte esterase, nitrites); urine culture (gold standard). RBUS indicated for first febrile UTI in infants 2-24 months to check for structural anomalies.
Treatment: Antibiotics (e.g., Cephalosporins like Cephalexin or Cefdinir).
Vesicoureteral Reflux
Classic Presentation:
Often discovered during febrile UTI workup or incidentally noted as hydronephrosis on prenatal ultrasound.
Diagnosis: Voiding cystourethrogram (VCUG) is gold standard for definitive diagnosis and grading (Grades I-V).
Treatment:
Mild to moderate cases (Grades I-III) often resolve spontaneously; managed with observation or prophylactic antibiotics.
Severe cases (Grades IV-V) often require surgical ureteral reimplantation.
Prune Belly Syndrome
Classic Presentation:
Rare triad of deficient abdominal musculature (wrinkled, prune-like appearance), bilateral cryptorchidism, severe urinary tract anomalies (megaureters/enlarged bladder).
Diagnosis: Often diagnosed on prenatal ultrasound or obvious at birth.
Treatment: Aggressive supportive care, prevention of UTIs, staged surgical reconstruction of urinary tract and abdominal wall.
Hematuria
Classic Presentation:
Presence of gross (visible) or microscopic blood in urine; can be painless or associated with symptoms (dysuria, edema, flank pain).
Diagnosis: Urinalysis with careful microscopy; RBC casts suggest glomerular source. Further imaging/labs based on suspected etiology.
Treatment: Depends entirely on underlying cause (e.g., managing post-strep glomerulonephritis or passing a stone).
Polycystic Kidney Disease
Presentation:
Autosomal Recessive (ARPKD): Presents in infancy with enlarged kidneys, oligohydramnios leading to Potter sequence.
Autosomal Dominant (ADPKD): Typically presents later in adolescence/adulthood; hypertension, flank pain.
Diagnosis: Renal ultrasound showing bilateral cystic enlargement.
Treatment: Supportive management focusing on blood pressure control (ACE inhibitors/ARBs). Severe progression may necessitate dialysis or renal transplantation.
Glomerulonephritis
Classic Presentation:
Nephritic syndrome triad: Hematuria, hypertension, edema.
Diagnosis: Urinalysis showing dysmorphic RBCs, RBC casts, mild-moderate proteinuria; serum BUN and creatinine may be elevated.
Treatment: Loop diuretics for edema, strict blood pressure control; specific immunosuppressive treatments depend on exact cause.
Nephrotic Syndrome
Classic Presentation:
Characterized by massive proteinuria, severe hypoalbuminemia, profound generalized edema (anasarca), and hyperlipidemia.
Diagnosis: Spot urine protein-to-creatinine ratio or 24-hour urine collection >3.5g/day of protein; blood tests reveal low serum albumin.
Treatment: Corticosteroids (if minimal change disease); careful fluid management and dietary sodium restriction.
IgA Nephropathy
Classic Presentation:
Episodes of painless gross hematuria concurrent with or following upper respiratory or GI infection.
Diagnosis: Presumed clinical diagnosis; renal biopsy may show IgA immune complex deposition in the mesangium.
Treatment: ACE inhibitors/ARBs for proteinuria, control blood pressure, preserve renal function; corticosteroids for progressive cases.
Post-infectious Glomerulonephritis
Classic Presentation:
Abrupt onset of nephritic syndrome (hematuria, edema, hypertension) 1-3 weeks after Group A Streptococcus infection (e.g., pharyngitis).
Diagnosis: Elevated ASO or Anti-DNAse B titers; low C3 complement levels.
Treatment: Supportive care, fluid/salt restriction, loop diuretics for fluid overload, antihypertensives if necessary; excellent prognosis for pediatric patients.
Minimal Change Disease
Classic Presentation:
Most common cause of nephrotic syndrome in children (peak age 2-6 years). Rapid onset of significant, gravity-dependent edema.
Diagnosis: Clinical diagnosis; renal biopsy usually normal; may show effacement on electron microscopy.
Treatment: Highly responsive to empirical treatment with high-dose corticosteroids (Prednisone).
Nephrolithiasis
Classic Presentation:
Sudden agonizing, colicky flank pain radiating to groin; often with gross or microscopic hematuria, nausea, vomiting.
Diagnosis: Non-contrast CT abdomen/pelvis gold standard; renal ultrasound frequently used first-line in children to minimize radiation.
Treatment: Aggressive hydration, pain control (NSAIDs), antiemetics; Alpha-blockers (Tamsulosin) can aid stone passage; lithotripsy or ureteroscopy for obstructing stones.
Acute Kidney Injury
Classic Presentation:
Rapid decline in kidney function with oliguria or anuria, edema, fatigue, potential signs of uremia.
Divided into prerenal, intrinsic, or postrenal causes.
Diagnosis: Abrupt sustained increase in serum creatinine; fractional excretion of sodium (FENa) can help identify prerenal vs intrinsic causes.
Treatment: Address direct underlying cause (e.g., fluid resuscitation for prerenal, relieving obstruction for postrenal). Dialysis indicated for life-threatening complications (AEIOU: Acidosis, Electrolyte derangements, Intoxication, Overload of fluid, Uremia).
Acute Tubular Necrosis
Classic Presentation:
Often follows severe prerenal failure or exposure to nephrotoxins.
Ischemic/toxic injury causes death/sloughing of tubular epithelial cells, clumping in lumen, drastically decreasing GFR.
Diagnosis: Urinalysis reveals "muddy brown" granular casts; FENa typically > 2%.
Treatment: Supportive; maintain strict fluid/electrolyte balance, allowing tubular cells to regenerate over 1-3 weeks.
Hemolytic Uremic Syndrome
Classic Presentation:
Triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, usually preceded by bloody diarrhea (commonly Shiga toxin E. coli).
Diagnosis: Peripheral smear reveals schistocytes; elevated BUN/Cr, low platelets, anemia, negative Coombs test.
Treatment: Supportive care (IV fluids, blood transfusions). Avoid antibiotics and anti-motility agents to prevent worsening conditions.
Neurology
Concussion
Classic Presentation:
Mild traumatic brain injury resulting in altered mental status, headache, confusion, amnesia, dizziness. No gross structural damage.
Diagnosis: Clinical based on injury mechanism/symptoms; CT of head is to rule out severe intracranial hemorrhage (indications: red flags).
Treatment: Physical/cognitive rest; gradually return-to-play protocol once asymptomatic at rest to avoid Second Impact Syndrome.
Skull Fracture
Classic Presentation: Can be linear (most common, often asymptomatic), depressed (palpable step-off), or basilar. Basilar presents with classic signs:
Battle sign (retroauricular ecchymosis), Raccoon eyes (periorbital ecchymosis), hemotympanum, or CSF rhinorrhea/otorrhea.
Diagnosis: Non-contrast CT of the head is definitive.
Treatment: Linear requires observation; depressed/open requires neurosurgical consultation for elevation. Basilar requires monitoring for CSF leaks and meningitis.
Subdural Hematoma
Classic Presentation:
Gradual headache worsening, altered mental status, possible focal neurological deficits. In infants, consider non-accidental trauma.
Diagnosis: Non-contrast CT shows crescent-shaped hyperdensity crossing suture lines but not midline.
Treatment: Observation/supportive for small, asymptomatic; neurosurgical evacuation for large bleeds with midline shift or symptoms.
Epidural Hematoma
Classic Presentation:
History of head trauma, transient loss of consciousness, then lucid interval, followed by neurological deterioration.
Diagnosis: Non-contrast CT of the head shows biconvex hyperdensity not crossing suture lines.
Treatment: Absolute neurosurgical emergency; immediate craniotomy for clot evacuation to prevent brain herniation.
Spina Bifida - Meningocele/Myelomeningocele
Classic Presentation:
Visible sac-like protrusion on infant's back at birth; meningocele contains only meninges/CSF and is typically neurologically intact; myelomeningocele contains meninges/CSF and spinal cord tissue, leading to paralysis, sensory loss, neurogenic bowel/bladder.
Diagnosis: Prenatal screening via elevated maternal serum alpha-fetoprotein (MSAFP) and fetal ultrasound; postnatal MRI defines anatomical defect.
Treatment: Surgical closure of defect (sometimes in utero or within 24-48h of birth); VP shunt placement often needed due to hydrocephalus.
Muscular Dystrophy
Classic Presentation:
Duchenne Muscular Dystrophy (DMD): Most common/severe, presents in male children with delayed motor milestones, proximal muscle weakness, calf pseudohypertrophy, positive Gowers' sign.
Diagnosis: Markedly elevated serum creatine kinase (CK); genetic testing is the gold standard.
Treatment: No cure; glucocorticoids help prolong ambulation; multidisciplinary care for complications like dilated cardiomyopathy and respiratory failure.
Cerebral Palsy
Classic Presentation:
Non-progressive motor, tone, and postural deficits in infancy (possibly missing milestones, abnormal muscle tone, predominantly spasticity). Heavily associated with premature birth or perinatal hypoxic-ischemic injury.
Diagnosis: Clinical based on history, milestones, neurological exams; MRI identifies structural abnormality.
Spinal Muscular Atrophy
Classic Presentation:
Type 1 (Werdnig-Hoffmann disease): Infancy, "floppy baby" with severe hypotonia, symmetrical proximal weakness, absent DTRs, respiratory distress, normal cognition.
Diagnosis: Genetic testing for SMN1 gene mutation.
Treatment: Historically fatal; new therapies (Nusinersen or Zolgensma) alter trajectory significantly; intensive respiratory/nutritional support required.
Transverse Myelitis
Classic Presentation:
Rapid onset (hours to days) of bilateral motor weakness, sensory deficits, autonomic dysfunction below spinal cord lesion level.
Diagnosis: MRI with contrast showing intrinsic spinal cord lesion; lumbar puncture shows pleocytosis and elevated IgG.
Treatment: High-dose IV corticosteroids; plasmapheresis for refractory cases.
Neonatal Myasthenia Gravis
Classic Presentation:
Transient hypotonia, poor feeding, weak cry, ptosis, or respiratory distress in a newborn from a mother with Myasthenia Gravis.
Diagnosis: Clinical presentation with maternal history; serum AChR antibodies in infant.
Treatment: Supportive care (NG tube feeding, respiratory support); AChE inhibitors (Neostigmine) provide symptomatic relief, resolves within weeks.
Guillain Barre Syndrome
Classic Presentation:
Acute demyelinating polyneuropathy after an infectious process; ascending flaccid paralysis and areflexia.
Diagnosis: Lumbar puncture reveals albuminocytologic dissociation (high protein, normal WBC). EMG shows severe slowing.
Treatment: IVIG or plasmapheresis; close monitoring of respiratory function necessary.
Acute Disseminating Encephalomyelitis (ADEM)
Classic Presentation:
Acute multifocal neurological deficits coupled with encephalopathy following viral infection/vaccination.
Diagnosis: MRI showing multiple large hyperintense white matter lesions.
Treatment: High-dose IV corticosteroids; prognosis generally good.
Multiple Sclerosis
Classic Presentation:
Rare in young children; presents with recurrent focal neurological dysfunction episodes separated in space/time (e.g., optic neuritis followed by transverse myelitis).
Diagnosis: MRI shows demyelinating plaques ("Dawson's fingers"); lumbar puncture shows oligoclonal bands.
Treatment: Acute exacerbations managed with high-dose corticosteroids; disease-modifying therapies necessary to prevent relapses.
Infantile Botulism
Classic Presentation:
Constipation is the first sign, followed by weak cry, poor feeding, descending flaccid paralysis, and loss of head control; associated with raw honey ingestion in infants <1 year.
Diagnosis: Clinical, confirmed by isolation of botulinum spores/toxin in stool.
Treatment: Immediate hospitalization with respiratory monitoring; definitive treatment with Botulism Immune Globulin Intravenous (Human) (BIG-IV or BabyBIG) to neutralize circulating toxins. Avoid antibiotics.
Cerebellar Ataxia of Childhood
Classic Presentation:
Sudden onset of staggering wide-based gait, nystagmus, slurred speech in toddlers following viral illness.
Diagnosis: Clinical diagnosis of exclusion; urine toxicology and neuroimaging to rule out serious causes.
Treatment: Supportive, self-limiting, resolves over weeks/months.
Headache Red Flags
Classic Presentation: Symptoms that differentiate primary from secondary headaches.
Key Red Flags:
Headache awakening child from sleep.
Early morning vomiting without nausea.
Worsening headache with Valsalva, coughing, or straining.
Sudden-onset "thunderclap" or severe headache in children <6 years.
Diagnosis: Thorough neurologic examination including fundoscopy. Neuroimaging if red flags present.
Treatment: Dependent on underlying cause discovered.
Migraines (with aura, without aura, basilar)
Classic Presentation:
Pulsating, throbbing moderate-to-severe headache pain, frequently bilateral in young children; there is nausea, photophobia, and phonophobia.
With Aura: Transient visual/sensory changes or speech disturbances precede headache.
Basilar (Brainstem aura): Brainstem symptoms precede headache phase.
Diagnosis: Clinical based on history; neurologically normal examination.
Treatment: Acute therapies include NSAIDs, Acetaminophen; preventive therapies may include Amitriptyline, Topiramate, Propranolol, Cyproheptadine.
Tension Headache
Classic Presentation:
Mild-to-moderate bilateral, non-pulsating,