Esmeralda Shared "cancer and peds fom 6" - 24 Picmonics
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Type II associated with Endometrial, Ovarian and Skin Cancers
3-2-1 Rule
3 Relatives with Colon Cancer
Occurs Across 2 Generations
1 Relative Diagnosed < 50 Years Old
Treatment
Frequent Screening
Colectomy
3 mins
Von Hippel-Lindau Disease
Pathophysiology
Chromosome 3
Presentation
Hemangioblastomas
Medulla, Retina, Cerebellum
Cysts
Kidney, Liver, Pancreas
Develop Bilateral Renal Carcinomas
Pheochromocytomas
2 mins
Familial Adenomatous Polyposis
Pathophysiology
Autosomal Dominant
Mutation in Chromosome 5
APC Gene Mutation
Overexpression of Beta-catenin
Two-Hit Hypothesis
Clinical Findings
Change in Bowel Habits
Colonic Polyps
Screening
Colonoscopy
Management
Prophylactic Surgery
Considerations
Progresses to Colorectal Carcinoma
3 mins
Li-Fraumeni Syndrome
Pathophysiology
Autosomal Dominant
TP53 Mutation
Loss of Heterozygosity
Clinical Features
Osteosarcoma
Breast Cancer
Brain Tumors
Leukemia/Lymphoma
Adrenocortical Carcinoma
Management
Supportive Care
3 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
Primary Immune Thrombocytopenia
Characteristics
Following Infection or Vaccination
Antiplatelet Antibodies
Clinical Features
Often Asymptomatic
Bleeding
Petechiae
Diagnosis
Thrombocytopenia
Increased Megakaryocytes
Management
Corticosteroids
Intravenous Immunoglobulin (IVIG)
Rituximab
Splenectomy
4 mins
Ataxia Telangiectasia
Pathophysiology
Autosomal Recessive
ATM Gene
Defect in DNA repair
Signs & Symptoms
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
2 mins
Pyruvate Kinase Deficiency
Pathophysiology
Autosomal Recessive
Defect in Pyruvate Kinase
Decreased ATP
Extravascular Hemolysis
Presentation / Symptoms
Hemolytic Anemia in a Newborn
Diagnosis
RBC Enzyme Assay
Echinocytes
Burr Cells
Small Uniform Projections
Normocytic Anemia
2 mins
G6PD Deficiency
X-linked Recessive
Hemolytic Anemia
Inflammatory Response
Fava Beans
Sulfonamides
Primaquine
Anti TB Drugs
Heinz Bodies
Bite Cells
Prevalent Among African Americans due to Increased Malarial Resistance
2 mins
Hereditary Spherocytosis Disease
Northern Europeans
Mechanisms
Autosomal Dominant
Spectrin/Ankyrin Deficiency
Spherocyte Formation
Hemolytic Anemia
Symptoms
Bilirubin Gallstones
Jaundice
Splenomegaly
3 mins
Fanconi Anemia
Characteristics
Autosomal Recessive
Aplastic Anemia
DNA Crosslink Repair Defect
Clinical Presentation
Short Stature
Microcephaly
Thumb and Forearm Malformations
Cafe Au Lait Spots
Ocular Abnormalities
Horseshoe Kidney
Lab Findings
Chromosomal Breakage Testing
Macrocytic Anemia
Pancytopenia
Management
Monitor For Malignancy and Bone Marrow Failure
Hematopoietic Stem Cell Transplantation
3 mins
Systemic Juvenile Idiopathic Arthritis Characteristics and Presentation
Characteristics
Idiopathic
Still's Disease
Autoimmune Joint Destruction
Onset < 16 Years Old
Presentation
Arthritis
Quotidian Fever
Evanescent Exanthem
Lymphadenopathy
Hepatosplenomegaly
2 mins
Systemic Juvenile Idiopathic Arthritis Diagnosis and Management
Laboratory Findings
Increased Ferritin
Management
Glucocorticoids
Tocilizumab
Anakinra
Complications
Joint Deformities
Limb-Length Discrepancy
Uveitis
Macrophage Activation Syndrome
Considerations
Variable Prognosis
2 mins
Polymyositis / Dermatomyositis Diagnosis and Treatment
Diagnosis
Increased CK (CPK)
Increased Aldolase
Anti-JO-1 Antibody
Anti-SRP Antibody
Antinuclear Antibody
Abnormal EMG
Biopsy
Treatment
Corticosteroids
Methotrexate
Azathioprine
Treatment For Resistant Disease
Intravenous Immunoglobulin (IVIG)
Cyclophosphamide
Rituximab
Calcineurin Inhibitors
2 mins
Polymyositis / Dermatomyositis Disease
Pathophysiology
Idiopathic Inflammatory Myopathy
More Common in Women
Endomysial Inflammation with CD8+ Cells (Polymyositis)
Perimysial Inflammation with CD4+ Cells (Dermatomyositis)
Signs and Symptoms (Both)
Symmetric Proximal Muscle Weakness
Dysphagia
Lung and Cardiac Involvement
Signs and Symptoms (Dermatomyositis)
Malar Rash
Shawl-like Shoulder Rash
Gottron Papules on Knuckles
Heliotrope Rash
3 mins
Anticentromere Antibodies
Autoimmune Disorders
CREST Syndrome (Limited Scleroderma)
Diffuse Scleroderma
49 secs
Sjögren’s Syndrome
Mechanism
Autoimmune Exocrine Gland Destruction
Symptoms (Classic Triad)
Xerostomia
Xerophthalmia
Arthritis
Diagnosis
Anti SS-B (La)
Anti SS-A (Ro)
Schirmer's Test
Salivary Gland Biopsy
Treatment
Symptomatic Treatment
Complications
Lymphoma
Other
Sicca Syndrome
4 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
Neuroblastoma Characteristics and Presentation
Characteristics
Malignant Neuroendocrine Tumor
Neural Crest Cells Origin
Sympathetic Ganglia
Adrenal Glands
Amplification of N-myc Oncogene
Most Common Cancer In Infancy
Clinical Presentation
Abdominal Mass That Can Cross Midline
Gastrointestinal Distress
Metastasis
Raccoon Eyes
Opsoclonus-Myoclonus Syndrome
4 mins
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