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Peds 2
Tuberous Sclerosis
Characteristics
Autosomal Dominant
Signs and Symptoms
Hamartomas in CNS and Skin
Phakoma
Subependymal Giant Cell Astrocytoma
Seizures
Intellectual Disability (Mental Retardation)
Adenoma Sebaceum
Shagreen Patch
Ash-leaf Spots
Renal Angiomyolipoma
Cardiac Rhabdomyoma
2 mins
Muscular Dystrophy
Mechanism
X-linked Recessive
Signs and Symptoms
Muscle Weakness
Motor Problems
Gower Sign
Large Calves
Waddling Gait
Loss of Ambulation
Consideration
Cardiac and Respiratory Failure
2 mins
Friedreich's Ataxia
Trinucleotide Repeat
GAA Repeat
Frataxin
Mitochondrial Dysfunction
Autosomal Recessive
Hammertoes
High Arches
Kyphoscoliosis
Lateral Corticospinal Tract
Posterior Column
Spinocerebellar Tract
Type I Diabetes Mellitus
Hypertrophic Cardiomyopathy
1 min
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
2 mins
Ehlers-Danlos Syndrome Types
Types
Types 1 and 2 - Classical
Type V Collagen Mutation
Joints and Skin
Type 3 - Hypermobility
Most Common
Tenascin X Deficiency
Joint Instability
Type 4 - Vascular
Type III Collagen Mutation
Vascular and Organ Rupture
2 mins
Ehlers-Danlos Syndrome Disease
Pathophysiology
Faulty Collagen Synthesis
Autosomal Dominant or Recessive
Various Severities
Signs and Symptoms
Hypermobile Joints
Hyperextensible Skin
Easy Bruising/Bleeding
Berry (Saccular) Aneurysm
Considerations
Brighton Criteria
2 mins
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
2 mins
Chronic Myelogenous Leukemia (CML)
Pathophysiology
BCR-ABL
9;22 Translocation
Philadelphia Chromosome
Signs & Symptoms
Tyrosine Kinase
Low Alkaline Phosphatase
Splenomegaly
Considerations
Blast Crisis
Age 30 to 90 Years
Responds to Imatinib
3 mins
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
3 mins
Wilms' Tumor (Nephroblastoma)
Cause
Malignant Renal Tumor
Assessment
Abdominal Mass
Hematuria
Fever
Hypertension
Interventions
Nephrectomy
Chemotherapy
Radiation
Considerations
Do Not Palpate Abdomen
Children Under 5 Years Old
2 mins
Ewing's Sarcoma
Epidemiology
Most Common in Boys < 15 years old
Pathophysiology
11;22 Translocation
Characteristics
Long bones, Pelvis, Ribs
Diaphysis
Small Blue Cells
Malignant
Aggressive
Onion-skin Appearance
TREATMENT
Responsive to Chemotherapy
2 mins
Osteosarcoma
Pathophysiology
Osteogenic Sarcoma
Peak incidence men 10-20 years old
Metaphysis of Long Bones
Knee Region
Radiation
Familial Retinoblastoma
Paget's Disease
Diagnosis
Codman Triangle
Sunburst Pattern from Elevated Periosteum
Grave Prognosis
2 mins
Chronic Lymphocytic Leukemia (CLL)
Signs and Symptoms
Age > 60 Years
B Cell Neoplasm
Smudge Cells
Often Asymptomatic
Cold IgM Autoimmune Hemolytic Anemia
Warm IgG Autoimmune Hemolytic Anemia
Richter's Transformation
3 mins
Tetralogy of Fallot (TOF)
Features
Blue Baby Syndrome
Mechanism
PROVe Acronym
Pulmonary Infundibular Stenosis
Right Ventricular Hypertrophy
Overriding Aorta
Ventricular Septal Defect (VSD)
Diagnosis and Treatment
Boot-Shaped Heart
Squatting for Tet Spells
Surgery
2 mins
Total Anomalous Pulmonary Venous Return (TAPVR)
Pathophysiology
Pulmonary Veins Do Not Connect to Left Atrium
Oxygenated Blood Return to Right Atrium
Incompatible with Life without a Shunt
With Obstruction
Vessel Enters at an Acute Angle
Severe Cyanosis
Pulmonary Edema
Without Obstruction
Delayed Manifestation (1 or 2 years)
Right Heart Failure
Chest X-ray Shows "Snowman"
Diagnosis
Echocardiogram
Treatment
Surgical Correction
3 mins
Transposition of Great Vessels
Pathophysiology
Pulmonary and Systemic Circulation are in Parallel
Incompatible with Life Without a Shunt
Symptoms
Severe Cyanosis at Birth
Single S2 sound
Diagnosis
Echocardiogram
Chest X-ray shows "Egg-shaped Silhouette"
Treatment
Prostaglandin
Avoid NSAIDs
Surgical Correction
Balloon Atrial Septostomy
2 mins
Persistent Truncus Arteriosus
Common Arterial Trunk
Single Trunk Emerges from Both Ventricles
Symptoms
Cyanosis
Pulmonary Congestion
Heart Failure
Single S2 Sound
Diagnosis
Echocardiogram
Chest X-ray
Treatment
Early Surgical Correction
Avoids Pulmonary Hypertension
2 mins
Osteogenesis Imperfecta
Pathophysiology
Autosomal Dominant
Decreased Type I Collagen Production
Symptoms
Phenotypically Diverse
Brittle Bone Disease
Fractures from Minimal Trauma
Confused with Child Abuse
Hearing Loss
Dental Imperfections
Blue Sclera
1 min
Legg-Calve-Perthes Disease
Pathophysiology
Idiopathic Avascular Necrosis of Femoral Head
Boys 5-7 Years of Age
Symptoms < 18 Months
Signs & Symptoms
Painless Limp
Limited Range of Motion
Intermittent Anterior Thigh Pain
Insidious Pain in Knee
Atrophy of Upper Thigh
Diagnosis
AP and Frog Leg Lateral X-ray
Compression and Deformity of Femoral Head
Treatment
Bed Rest
NSAIDs
Containment with Brace or Cast
Surgery
4 mins
Slipped Capital Femoral Epiphysis (SCFE)
Pathophysiology
Separation of Femoral Epiphysis from Femoral Neck
Through Growth Plate (Physeal Plate)
Obesity
Male Adolescents
African American
Growth and Sex Hormone Imbalances
Signs & Symptoms
Thigh or Knee Pain
Inability to Bear Weight
Decreased Internal Rotation of Hip
Obligate External Rotation of Hip with Flexion
Diagnosis
Frog Leg Lateral X-ray
Treatment
Surgical Pinning
Complications
Avascular Necrosis of Femoral Head
3 mins
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