Acute Lymphoblastic Leukemia (ALL)
- Ages < 15
- May Present with Bone Marrow Involvement in Children
- Mediastinal Mass in Adolescents
- TdT Positive
- CALLA Positive
- t(12;21) Better Prognosis
- Spread to CNS and Testes
- Most Responsive to Chemotherapy
Acute Myelogenous Leukemia (AML)
- Myeloblasts Increase on Peripheral Smear
- Median Onset 60 Years
- T 15;17 M3 Subtype
- Auer Rods
- Disseminated Intravascular Coagulation (DIC) is a Common Presentation
- M5 Gum Infiltration
- Responds to Vitamin A
Meningitis Interventions
- IV Antibiotics
- Dexamethasone
- Analgesics
- Antipyretics
- Closely Monitor for Increased ICP
- Bed Rest
- Preventative Vaccinations
- Droplet-Airborne Precautions
Meningitis Assessment
- Nausea and Vomiting
- Fever
- Nuchal Rigidity
- Severe Headache
- Purpura
- Seizures
- Photophobia
- Opisthotonus Position
- High-Pitched Cry
- Bulging Fontanel
Neisseria Meningitidis
- Gram-Negative
- Diplococci
- Chocolate Agar
- Thayer-Martin Media
- VPN
- Oxidase-Positive
- Maltose Fermentation
- Glucose Fermentation
- Endotoxin
- Lipooligosaccharide (LOS) in Membrane
- Polysaccharide Capsule
- IgA Protease
- Waterhouse Friderichsen Syndrome
- Adrenal Insufficiency
- Petechial Rash
- Ceftriaxone
- Rifampin Prophylaxis
Osteosarcoma
- Osteogenic Sarcoma
- Peak incidence men 10-20 years old
- Metaphysis of Long Bones
- Knee Region
- Radiation
- Familial Retinoblastoma
- Paget's Disease
- Codman Triangle
- Sunburst Pattern from Elevated Periosteum
- Grave Prognosis
Turner Syndrome
- Female (XO)
- Short stature
- Shield Chest
- Cystic Hygroma (Webbing of Neck)
- Lymphedema in Hands and Feet
- Ovarian Dysgenesis
- Streak Ovary
- Decreased Estrogen
- Increased FSH
- Increased LH
- Dysgerminoma
- Bicuspid Aortic Valve
- Preductal Coarctation of the Aorta
- Horseshoe Kidney
- Menopause before Menarche
- Amenorrhea
Patent Ductus Arteriosus
- Continuous
- Machine like murmur
- Often Due to Congenital Rubella
- Prematurity
Tetralogy of Fallot (TOF)
- Blue Baby Syndrome
- PROVe Acronym
- Pulmonary Infundibular Stenosis
- Right Ventricular Hypertrophy
- Overriding Aorta
- Ventricular Septal Defect (VSD)
- Boot-Shaped Heart
- Squatting for Tet Spells
- Surgery
Age 2 Months - Developmental Milestones
- Holds Head Up, But Unsteady
- Moves Both Arms and Both Legs
- Opens Hands Briefly
- Tracks Objects to the Midline
- Produces Sounds Aside from Crying
- Reacts to Loud Noise
- Social Smile
- Recognizes Parents
- Soothed When Spoken to or Picked Up
Age 4 Months - Developmental Milestones
- Keeps Head Steady Without Support
- Pushes Up on Elbows While on Tummy
- Holds a Toy in Hands
- Moves Hands Towards Mouth
- Cooing
- Turns to Voice
- Chuckles
- Enjoys Looking Around
- Looks at Hands With Interest
- Opens Mouth When Hungry
Age 6 Months - Developmental Milestones
- Sits Propped Up On Hands
- Rolls
- Raking Grasp
- Makes Squealing Noises
- Blows "Raspberries"
- Turn-Taking in Sounds
- Laughs
- Enjoys Looking at Self in a Mirror
- Recognizes Familiar People
- Closes Lips to Signal Fullness
- Puts Objects in Mouth
- Reaches for Desired Toys
Age 9 Months - Developmental Milestones
- Sits Up Independently
- Transfers Objects Between Hands
- Uses Fingers to Pull Food Toward Self
- Produces Various Sounds Like "mamamama" and "bababababa"
- Raises Arms to be Lifted Up
- Separation Anxiety
- Shows Facial Expressions
- Looks When Calling Name
- Smiles or Laughs at Peek-a-boo
- Looks for Dropped Objects Out of Sight
- Bangs Two Items Together
Age 1 Year - Developmental Milestones
- Pulls Up to Stand
- First Steps
- Drinks From an Open Cup with Assistance
- Two-Finger Pincer Grasp
- Understands “No”
- Waves "Bye-Bye"
- "Mama & Dada"
- Plays Pat-A-Cake
- Puts Block in Cup
- Searches for Hidden Toys
Age 18 Months - Developmental Milestones
- Walks Independently
- Climbs On/Off Furniture Without Help
- Drinks from Open Cup Independently
- Scribbles
- Eats with Fingers
- Tries to Use a Spoon
- Stacks Three Blocks
- Attempts Three-word Phrases
- Follows One-step Commands
- Checks While Moving Away
- Points to Objects
- Engages With Toys Simply
- Copies Parent Doing Chores
- Extends Hands for Washing
Age 2 Years - Developmental Milestones
- Kicks a Ball
- Runs
- Walks Up Stairs With Help
- Stacks Six Blocks
- Feeds Self With a Spoon
- Two-Word Phrases
- Points to Book Items as Prompted
- Demonstrates Varied Gestures
- Identifies Body Parts When Prompted
- Shows Empathy
- Holds and Manipulates Objects Simultaneously
- Engages With Multiple Toys
Age 3 Years - Developmental Milestones
- Starts Dressing Independently
- Rides Tricycle
- Stack Nine Block Tower
- Threads Items Together
- Copies Circle
- Uses Fork
- Engages in Two-way Conversation
- 75% Speech Understood by Stranger
- Says First Name
- Avoids Hot Objects When Warned
- Joins Other Kids in Play
Age 4 Years - Developmental Milestones
- Unbuttons Some Buttons
- Catches a Large Ball
- Serves Food or Pours Water With Help
- Copies Line, Circle, Stick Figure
- 100% Speech Understandable
- Identifies Colors
- Cooperative Play
- Imaginary Friends
- Likes Being a “Helper”
- Avoids Danger
Cystic Fibrosis Mechanisms
- Autosomal Recessive
- CFTR Chromosome 7
- Cl- channel Defect
- Decreased Chloride Secretion
- Increased Na and Water Reabsorption
- Increased Na and Cl in Sweat
- Dehydration of Mucous Layers
Cystic Fibrosis Diagnosis and Treatment
- Sweat Chloride Test > 60 mmol/L
- Meconium Ileus
- N-acetylcysteine
- Antibiotic Prophylaxis
- Pulmonary Maintenance
- Lung Transplant
- Vitamin Replacement
Cystic Fibrosis Symptoms and Complications
- Recurrent Pulmonary Infections
- Chronic Bronchitis
- Nasal Polyps
- Pancreatic Insufficiency
- Intestinal Obstruction
- Malabsorption and Diarrhea
- Vitamin Deficiencies
- Chronic Hepatic Disease
- Infertility in Males
Down Syndrome
- Trisomy 21
- Meiotic Nondisjunction
- Intellectual Disability (Mental Retardation)
- Single palmar crease
- Flat Facies
- Duodenal Atresia
- Hirschsprung's Disease
- Septum Primum Type ASD
- Endocardial Cushion Defects
- Prominent Epicanthal Folds
- Increased Risk of Acute Lymphoblastic Leukemia
- Alzheimer's Disease
Edwards Syndrome
- Trisomy 18
- Intellectual Disability (Mental Retardation)
- Rocker Bottom Feet
- Ventricular Septal Defect (VSD)
- Clenched Hands
- Overlapping Fingers
- Low-Set Ears
- Micrognathia
- Prominent Occiput
- Omphalocele
- Meckel's Diverticulum
- Horseshoe Kidney
- Malrotation of Intestines
Klinefelter's Syndrome
- Male (XXY)
- Eunuchoid Body Shape
- Gynecomastia and Female Hair Distribution
- Testicular Atrophy
- Dysgenesis of Seminiferous Tubules
- Possible Developmental Delay
- Hypogonadism
- Decreased Inhibin B
- Increased FSH
- Abnormal Leydig Cell Function
- Decreased Testosterone
- Increased LH
- Increased Estrogen
- Barr body (inactivated X chromosome)
Patau Syndrome
- Trisomy 13
- Severe Intellectual Disability
- Microcephaly
- Holoprosencephaly
- Microphthalmia
- Polydactyly
- Cleft Lip/Cleft Palate
- Rocker Bottom Feet
- Omphalocele
- Cystic Kidneys
- Ventricular Septal Defect (VSD)
Fragile X
- Trinucleotide Repeat
- CGG Repeats
- FMR1 Gene
- X-linked Dominant
- Developmental Delay
- Autism
- Large Ears
- Large Jaw
- Long Face
- Macroorchidism
Phenylketonuria (PKU)
- Decreased Phenylalanine Hydroxylase
- Decreased Tetrahydrobiopterin Cofactor
- Autosomal Recessive
- Tyrosine Becomes Essential
- Phenylalanine Found in Nutrasweet
- Musty or Mousy Body Odor
- Growth Retardation
- Seizures
- Intellectual Disability
- Hypopigmentation
Fabry's Disease
- X-linked Recessive
- Alpha-galactosidase A Deficiency
- Increased Ceramide trihexoside
- Decreased Sweating (Hypohidrosis)
- Angiokeratoma
- Episodic Peripheral Neuropathy
- Cardiovascular Disease
- Renal Failure
Gauchers Disease
- Autosomal Recessive
- Beta Glucocerebrosidase Deficiency
- Lipid-laden Macrophages
- Crumpled Tissue Paper
- Osteoporosis
- Bone Crises
- Aseptic Necrosis of Femur
- Erlenmeyer Flask Deformity
- Hepatosplenomegaly
- Pancytopenia
Hunter Syndrome
- X-linked Recessive
- Mucopolysaccharidoses
- Iduronate Sulfatase Deficiency
- Increased Dermatan Sulfate
- Increased Heparan Sulfate
- No Corneal Clouding
- Aggressive Behavior
Hurler Syndrome
- Autosomal Recessive
- Mucopolysaccharidoses
- Alpha-L-Iduronidase Deficiency
- Increased Heparan Sulfate
- Increased Dermatan Sulfate
- Hepatosplenomegaly
- Developmental Delay
- Gargoylism
- Corneal Clouding
- Airway Obstruction
Krabbe Disease
- Autosomal Recessive
- Galactocerebrosidase Deficiency
- Increased Psychosine
- Developmental Delay
- Peripheral Neuropathy
- Optic Atrophy
- Globoid Cells
Metachromatic Leukodystrophy
- Autosomal Recessive
- Arylsulfatase A Deficiency
- Increased Cerebroside Sulfate
- Demyelination
- Ataxia
- Dementia
Niemann-Pick Disease
- Autosomal Recessive
- Sphingomyelinase Deficiency
- More Common in Ashkenazi Jewish Population
- Cherry Red Spot on Macula
- Hepatosplenomegaly
- Neurodegeneration
- Foam Cells
Tay-Sachs Disease
- Autosomal Recessive
- Hexosaminidase A Deficiency
- Increased GM2 Ganglioside
- More Common in Ashkenazi Jewish Population
- Cherry Red Spot on Macula
- Neurodegeneration
- Developmental Delay
- Onion Skin Lysosomes
Intussusception
- Telescoping of Bowel Segments
- Lead Point
- Episodic Abdominal Pain
- Diarrhea
- Sausage-Shaped Mass
- Red Currant Jelly Stools
- Ultrasound/CT
- Target Sign
- More Common in Children
- Rotavirus Vaccine Contraindicated
- Air or Hydrostatic Enema
- Surgical Reduction
Hypertrophic Pyloric Stenosis (HPS) Assessment
- Hypertrophied Pylorus
- Macrolide Use
- 3-6 Weeks of Age
- Projectile Vomiting After Feeding
- No Pain or Discomfort
- Weight Loss
- Dehydration
- Hungry Baby
- Olive Mass
Hypertrophic Pyloric Stenosis (HPS) Interventions
- Pyloromyotomy
- Stabilize Fluid and Electrolyte Balance
- Nasogastric Tube
- Monitor Feeding
- Start Formula or Breastfeeding Within 24 Hours
- Feedings Every 4-6 hours
- Full Feeding Within 2 days
Hirschsprung Disease
- Failure of Neural Crest Cell Migration
- Involves Rectum
- Lack of Auerbach and Meissner Plexus
- Chronic Constipation
- Failure to Pass Meconium
- Congenital Megacolon
- Increased Risk with Down Syndrome
- RET Mutations
Meckel's Diverticulum
- True Diverticulum
- Vitelline Duct
- Yolk Stalk
- Contain Ectopic Tissue
- Pancreatic And Gastric Mucosa
- Hemorrhage
- Intussusceptions
- Volvulus
- 2 Feet From Ileocecal Valve
- 2 Inches Long
- 2% Population
- First 2 Years Of Life
- Pertechnetate T99
Bruton's Agammaglobulinemia
- X-linked Recessive
- Defective Bruton Tyrosine Kinase
- Blocks B Cell Maturation
- Decreased Immunoglobulins of All Classes
- Bacterial Infections After Six Months
- Maternal IgG Protects Before Six Months
Common Variable Immunodeficiency
- Defect in B Cell Maturation
- Decreased Plasma Cells
- Decreased Immunoglobulins
- Sinopulmonary Infections
- Increased Risk of Autoimmune Disease
- Lymphoma
Selective IgA Deficiency
- Defect in Class Switching
- Decreased IgA
- Often Asymptomatic
- Increase in Atopic & Autoimmune Diseases
- Sinopulmonary Infections
- Increased Risk Giardia Lamblia Infections
- Inflammatory Bowel Disease
- Celiac Disease
- Anaphylaxis From IgA Containing Blood Products
Thymic Aplasia (DiGeorge Syndrome)
- DiGeorge Syndrome
- 22q11 Deletion
- Failure to Develop Third and Fourth Pharyngeal Pouches
- Undeveloped Thymus
- T Cell Deficiency
- Recurrent Viral and Fungal Infections
- Undeveloped Parathyroids
- Hypocalcemia
- Tetany
- Aortic Defects
- Congenital Heart Defects
- Absent Thymic Shadow on CXR
Ataxia Telangiectasia
- Autosomal Recessive
- ATM Gene
- Defect in DNA repair
- Cerebellar defects
- Spider Angiomas
- Sensitive to Radiation
- Defective Tumor Suppressor Gene
- Increased risk of Cancer, Leukemias, and Lymphomas
- Increased AFP levels
- IgA deficiency
- Repeated sinopulmonary infections
Chronic Granulomatous Disease
- Most Commonly X-linked Recessive
- Defective NADPH Oxidase (Enzyme Complex)
- Decreased Hydrogen Peroxide
- Impaired Intracellular Killing in Phagocytes
- Recurrent Purulent Skin and Lung Infections
- Catalase Positive Organisms
- Negative Nitroblue Tetrazolium Test
- DHR (Dihydrorhodamine) Flow Cytometry
- Antimicrobial Prophylaxis
- TMP-SMX
- Itraconazole
- Interferon-Gamma
Leukocyte Adhesion Deficiency
- Autosomal Recessive
- Integrin CD18 Protein
- Defect in LFA-1
- Attached to ICAM
- Neutrophilia
- Bacterial Infections
- Non-Pyogenic
- Delayed Separation of Umbilical Cord
Severe Combined Immunodeficiency (SCID)
- Both B and T Cell Deficiency
- Recurrent Viral, Bacterial, Fungal, Protozoal Infections
- Defective Interleukin (IL) 2 Receptor
- X-Linked
- Adenosine Deaminase Deficiency
- Failure to Synthesize MHC II Antigens
- Treat with Bone Marrow Transplant
Wiskott Aldrich
- X-linked Recessive
- WASp Protein Mutation
- Antigen Presentation Defect
- Progressive Deletion of B and T Cells
- Thrombocytopenia
- Eczema
- Infections
- Decreased IgM
- Increased IgE, IgA
Chediak-Higashi Syndrome
- Autosomal Recessive
- Defective Lysosomal Trafficking Regulator Gene (LYST)
- Defect In Microtubular Function
- Decrease In Phagocytosis
- Recurrent Pyogenic Infections
- Staph Aureus And Streptococci
- Partial Albinism
- Peripheral Neuropathy
- Pancytopenia
- Giant Granules In Granulocytes And Platelets
Hyper IgE Syndrome
- Job Syndrome (Autosomal Dominant Hyper IgE Syndrome)
- Autosomal Dominant
- STAT3 Mutation
- Increased IgE
- Abnormal Chemotaxis
- Leonine Facies
- Cold (Non-Inflamed) Staph Aureus Abscesses
- Retained Primary Teeth
- Eczema
- Prophylactic Antibiotics
Kawasaki Disease
- Prevalent in Asian Children
- Necrotizing Vasculitis
- Fever
- Strawberry-Red Tongue and Mucosa
- Lymphadenopathy
- Desquamative Skin Rash
- Erythema and Edema of the Hands and Feet
- Conjunctivitis
- Coronary Aneurysm
- Intravenous Immunoglobulin (IVIG)
- Aspirin
Respiratory Syncytial Virus (RSV) Assessment
- Viral Infection Affecting Epithelial Cells
- Begins After a Upper Respiratory Infection
- Copious Secretions
- Coughing and Sneezing
- Wheezing
- Otitis Media or Conjunctivitis (Possible Ear or Eye Drainage)
- Poor Feeding
- Tachypnea
Respiratory Syncytial Virus (RSV) Interventions
- Palivizumab (Synagis)
- Hospitalization
- Contact Precautions
- Oxygen
- Separate Room
- Maintain Fluid Intake
- Short-acting Beta-Agonist Bronchodilator
Croup (Laryngotracheobronchitis)
- Parainfluenza Virus
- 3 Months to 3 Years
- Nighttime
- Barking Seal Cough
- Inspiratory Stridor
- Cool Humidified Air
- Dexamethasone
- Racemic Epinephrine
Haemophilus Influenzae Disease
- Pneumonia
- Cherry Red Epiglottitis
- Meningitis
- Otitis Media
- COPD Exacerbation
- Thumbprint Sign (on X-ray)
- Rifampin Prophylaxis
- Ceftriaxone
Bordetella pertussis
- Gram-Negative
- Coccobacillus
- Bordet-Gengou Agar
- ADP Ribosylating AB Toxin
- Inhibits Gi to cause Increase in cAMP
- Lymphocytosis
- Increase in Insulin
- Catarrhal Phase is Infectious Period
- Paroxysmal Phase is Symptomatic Period
- Whooping Cough
- Macrolides
Exanthema Subitum (Roseola Infantum)
- Human Herpesvirus Type 6
- Sudden High Fever
- Maculopapular, Nonpruritic Rash
- Febrile Seizures
- Tepid Baths
- Ibuprofen
- Acetaminophen
Paramyxovirus
- Enveloped
- RNA Virus
- Helical
- SS Negative Linear
- Nonsegmented
- Surface Fusion Protein Causes Multinucleated Cells
- Measles
- Mumps
- Bronchiolitis in Babies
- Parainfluenza
- Respiratory Syncytial Virus (RSV)
Parvovirus B19
- DNA
- Single Stranded
- Linear
- Smallest DNA virus
- Non-enveloped
- 5th Disease
- Slapped Cheek Rash in Children
- Erythema Infectiosum
- Hydrops Fetalis
- RBC aplasia
- Arthritis in Adults
- Aplastic Crisis in Sickle Cell
- Myocarditis
Rubella
- RNA Virus
- Matonaviridae
- Enveloped
- Icosahedral
- SS Positive Linear
- German Measles or Three-Day Measles
- Fever
- Postauricular Tenderness
- Lymphadenopathy
- Truncal Rash
- Arthritis
- Congenital TORCH Infection
APGAR Score
- 1 and 5 Minutes
- Appearance
- Pulse
- Grimace
- Activity and Muscle Tone
- Respiration
- Total Scores
- Gentle Stimulation
- Oxygen
Coxsackievirus
- Picornavirus
- Coxsackie A
- Febrile Pharyngitis
- Hand, Foot, and Mouth Disease
- Most Common Cause of Aseptic Meningitis
- Late Summer
- Coxsackie B
- Myocarditis
- Dilated Cardiomyopathy
- Type 1 Diabetes
Tracheoesophageal Fistula (TEF)
- Esophageal Atresia
- Ends in Blind Pouch
- Coughing
- Choking
- Cyanosis
- Drooling
- NPO
- Surgical Emergency
- Aspiration Pneumonia
Leukemia Assessment
- Immature WBCs
- Recurrent Infections
- Easy Bruising
- Bleeding
- Anemia
- Fatigue
- Weight Loss
- Bone Pain
- May Have Normal or High WBC Count
Leukemia Interventions
- Bone Marrow Aspiration
- X-Rays
- Chemotherapy
- Bleeding Precautions
- Neutropenic Precautions
- Strict Asepsis
- Bone Marrow Transplant
- Blood Transfusions
- Monitor Temperature Elevations
- Adequate Nutrition
- Imatinib (Gleevec) for Chronic Myelogenous Leukemia (CML)
Wilms' Tumor (Nephroblastoma)
- Malignant Renal Tumor
- Abdominal Mass
- Hematuria
- Fever
- Hypertension
- Nephrectomy
- Chemotherapy
- Radiation
- Do Not Palpate Abdomen
- Children Under 5 Years Old
Ewing's Sarcoma
- Most Common in Boys < 15 years old
- 11;22 Translocation
- Long bones, Pelvis, Ribs
- Diaphysis
- Small Blue Cells
- Malignant
- Aggressive
- Onion-skin Appearance
- Responsive to Chemotherapy
Lead Antidotes
- Dimercaprol
- CaEDTA
- Succimer
Varicella Zoster Virus (VZV)
- Herpesvirus 3
- Enveloped
- Double Stranded DNA
- Chickenpox
- Pneumonia
- Encephalitis
- Trigeminal and Dorsal Root Ganglia
- Shingles
- Tzanck Test
- Multinucleated Giant Cells
- Cowdry A Inclusion
- Acyclovir