THE PEDIATRICS CLERKSHIP - PART 7 potx

von Willebrand Disease D EFINITION Most common hereditary bleeding disorder. E TIOLOGY Ⅲ Autosomal dominant—chromosome 12 Ⅲ Deficiency of factor VIII-R P ATHOPHYSIOLOGY Ⅲ Defective platelet function due to decrease in level or function of von Willebrand cofactor Ⅲ Three types: Ⅲ Type I—low levels of von Willebrand factor (vWF) (and factor VIII) Ⅲ Type II—abnormal vWF Ⅲ Type III—may have total absence of vWF (and < 10% factor VIII levels) S IGNS AND SYMPTOMS Ⅲ Easy bruising Ⅲ Heavy or prolonged menstruation Ⅲ Frequent or prolonged epistaxis Ⅲ Prolonged bleeding after injury, surgery (circumcision), or invasive den- tal procedures 254 HIGH-YIELD FACTSHematologic Disease TABLE 15-5. Coagulation tests. Test Purpose PT (INR) Extrinsic system Elevated in DIC, warfarin use, liver failure, myelofibrosis, vita- min K deficiency, fat malabsorption, circulating anticoagulants, factor deficiencies aPTT Intrinsic Elevated in factor deficiencies, circulating anticoagulants, hep- arin use Bleeding time Surgical Related to platelet count If lengthened and platelet count is normal, consider qualitative platelet defect Platelet count Related to bleeding time < 100,000/mm 3 —mild prolongation of bleeding time < 50,000—easy bruising < 20,000—increased incidence of spontaneous bleeding Platelet aggregation Qualitative May be abnormal even with normal platelet count—qualitative platelet disorders (Glanzman’s thrombasthenia), von Willebrand factor deficiency Fibrin degradation Fibrin activation Elevated in DIC, trauma, inflammatory disease products D-dimer Intravascular fibrinolysis Present in most individuals, especially with cancer, trauma Sensitive for active clotting, but not specific Assays for specific Quantitative Hemophilia A (VIII), hemophilia B (IX), von Willebrand factor factors deficiency (VIII, vWF) PT, prothrombin time; INR, international normalized ratio; aPTT, activated partial thromboplastin time. vWF does not cross placenta. A child presents with epistaxis, prolonged bleeding time, and a normal platelet count. Think: von Willebrand’s disease. Typical Scenario DIAGNOSIS Ⅲ Increased aPTT and bleeding time Ⅲ Abnormal factor VIII clotting activity Ⅲ Quantitative assay for vWF antigen Ⅲ Reduced ristocetin co-factor activity Ⅲ Abnormal platelet aggregation tests Ⅲ Normal platelet count T REATMENT Ⅲ Avoid unnecessary trauma Ⅲ Desmopressin Ⅲ Replacement therapy: Ⅲ Factor VIII concentrate Ⅲ Weight (kg) × desired % replacement × 0.5 Ⅲ Cryoprecipitate recommended only in life-threatening emergencies due to the risk of human immunodeficiency virus (HIV) and hepatitis infec- tion Bleeding time Desired level (%) VIII Hematoma 20–40% Dental extraction 50% Head injury 100% Major surgery 100% Hemophilia D EFINITION Ⅲ Inherited coagulation defects Ⅲ Hemophilia A: factor VIII deficiency Ⅲ Hemophilia B: factor IX deficiency P ATHOPHYSIOLOGY Slowed rate of clot formation. S IGNS AND SYMPTOMS Ⅲ Easy bruising Ⅲ Intramuscular hematomas Ⅲ Hemarthroses (ankles, then knees and elbows) leading to joint destruc- tion if untreated Ⅲ Spontaneous hemorrhaging if levels < 5% D IAGNOSIS Ⅲ Family history Ⅲ aPTT 2 to 3 times upper limit of normal T REATMENT Ⅲ Early diagnosis. Ⅲ Prevent trauma. Ⅲ Recombinant factors. Ⅲ Cryoprecipitate. Ⅲ Beware of transfusion complications, including disease transmission. 255 HIGH-YIELD FACTS Hematologic Disease Avoid aspirin and nonsteroidal anti- inflammatory drug (NSAID) use in patients with von Willebrand disease. Patients with hemophilia may lose large amounts of blood into an iliopsoas hematoma. Only 30% of male infants with hemophilia bleed at circumcision. Ⅲ 1 unit of VIII/kg— increase 2% Ⅲ 1 unit of IX/kg— increase 1% HYPERCOAGULABLE STATES DEFINITION Predisposition to thrombosis. P ATHOPHYSIOLOGY Primary (inherited) or secondary (acquired) disturbances in the three areas of Virchow’s triad: Ⅲ Endothelial damage (e.g., inflammation, trauma, burns, infection, surgery, central lines, artifical heart valves) Ⅲ Change in blood flow (e.g., immobilization, local pressure, congestive heart failure [CHF], hypovolemia, hyperviscosity, pregnancy) Ⅲ Hypercoagulability (e.g., factor release secondary to surgery, trauma, malignancy); antiphospholipid antibodies, lupus, oral contraceptive use; genetic predispositions such as deficiencies of protein S, protein C, antithrombin III, or factor V Leiden; nephrotic syndrome, poly- cythemia vera, sickle cell anemia, homocystinemia, fibrinogenemia SIGNS AND SYMPTOMS Ⅲ Deep vein thrombosis (DVT) Ⅲ Pulmonary embolism (PE) Ⅲ Myocardial infarction (MI) Ⅲ Stroke D IAGNOSIS Ⅲ Family history Ⅲ Patient history of recurrent, early, unusual, or idiopathic thromboses Ⅲ Appropriate screening Ⅲ Risk factor assessment T REATMENT Ⅲ Reduce risk factors—mobilize patients, encourage to quit smoking and alcohol, hydrate Ⅲ Aspirin, heparin, warfarin, etc., as appropriate MALARIA DEFINITION Bloodborne parasite infection. E TIOLOGY Ⅲ Transmitted by female Anopheles mosquito Ⅲ Four species of Plasmodium: Ⅲ P. falciparum Ⅲ P. malariae Ⅲ P. ovale Ⅲ P. vivax E PIDEMIOLOGY Most frequent cause of hemolysis worldwide. S IGNS AND SYMPTOMS Ⅲ Fever Ⅲ Chills Ⅲ Jaundice Ⅲ Splenomegaly Ⅲ Sweats 256 HIGH-YIELD FACTSHematologic Disease HgbS confers resistance against Plasmodium falciparum. An 8-year-old American born boy of Somali parents presents with fever for 1 week after returning from his vacation. On examination he has splenomegaly. Think: Malaria. Typical Scenario DIAGNOSIS Ⅲ Traditional method: identification of organisms on thick and thin pe- ripheral blood smears obtained when patient is acutely febrile. Ⅲ Newer methods include polymerase chain reaction (PCR) and im- munoassays. T REATMENT Ⅲ See CDC Web site for specific guidelines. Ⅲ Chloroquine is used for P. ovale, P. vivax, P. malariae, and chloroquine- sensitive P. falciparum. Ⅲ Significant areas of chloroquine-resistant P. falciparum exist. In these places, mefloquine or atovaquone–proguanil should be used. TRANSFUSION REACTIONS EPIDEMIOLOGY Ⅲ Approximately 4% of transfusions are associated with some form of ad- verse reaction. Ⅲ Most are febrile nonhemolytic or urticarial. Ⅲ See Table 15-6. I NDICATIONS FOR TRANSFUSION OF BLOOD PRODUCTS Ⅲ Packed RBCs—Hgb < 8 or 8 to 10 if symptomatic Ⅲ Platelets—< 10,000/µL; 10,000 to 50,000 if bleeding; < 75,000 in preparation for surgery Ⅲ FFP—treatment of bleeding from vitamin K deficiency, increased inter- national normalized ratio (INR), liver disease, or during plasma ex- change for TTP Ⅲ Cryoprecipitate—hypofibrinogenemia, hemophilia A, von Willebrand factor deficiency, factor XIII deficiency C OMPLICATIONS Ⅲ Hemolytic, febrile, and allergic reactions Ⅲ Transfusion-related acute lung injury (TRALI) Ⅲ Disease transmission (e.g., HIV, hepatitis B virus [HBV], hepatitis C virus [HCV], human T-lymphotropic virus [HTLV], cytomegalovirus [CMV], parvovirus) Ⅲ Iron overload, electrolyte disturbances Ⅲ Fluid overload, hypothermia METHEMOGLOBINEMIA ETIOLOGY Ⅲ Inherited: Ⅲ Deficiency of cytochrome b5 reductase Ⅲ Hgb M disease—inability to convert methemoglobin back to hemo- globin Ⅲ Acquired—increased production of methemoglobin: Ⅲ Nitrites (contaminated water), xylocaine/benzocaine (teething gel), sulfonamides, benzene, aniline dyes, potassium chlorate P ATHOPHYSIOLOGY Ⅲ Hgb iron in ferrous form. Ⅲ Methemoglobin iron is in ferric form (< 2%) and is unable to transport oxygen. 257 HIGH-YIELD FACTS Hematologic Disease Children rarely have febrile reactions to initial transfusion unless they are immunoglobulin A (IgA) deficient. One unit of whole blood is 450 mL and should increase the hemoglobin by 1 g/dL and the hematocrit by 3%. Life-threatening transfusion reactions are nearly always due to clerical errors (wrong ABO blood type). SIGNS AND SYMPTOMS Depends on the concentration: Ⅲ 10–30%: cyanosis Ⅲ 30–50%: dyspnea, tachycardia, dizziness Ⅲ 50–70%: lethargy, stupor Ⅲ > 70%: death D IAGNOSIS Methemoglobin level. 258 HIGH-YIELD FACTSHematologic Disease TABLE 15-6. Transfusion reactions. Type Etiology Signs and Symptoms Treatment Prevention Acute hemolytic RBC incompatibility Fever, chills, nausea Stop transfusion Pretransfusion (1 in 15,000– Damaged RBCs Chest/arm/back pain Manage blood testing 36,000) (fatal 1 Hypotonic solution Hemoglobinuria, oliguria pressure and renal Accurate labeling, in 630,000) Shock, hypotension perfusion unit inspection DIC Control DIC Proper patient Dyspnea identification Delayed Antibodies to minor 3–10 days post-transfusion Usually self-limited Chronically hemolytic blood group antigens Falling hematocrit, fever, Supportive transfused patients during prior hyperbilirubinemia/uria should received transfusion (Kidd, leukocyte reduced Duffy, Rh, Kell) products Allergic (1 in Antibodies to Hives, itching, local Antihistamines Pretransfusion 30–100) plasma proteins erythema antihistamines Washed cellular blood products Anaphylactic Antibodies to IgA Cough, respiratory distress, Stop transfusion IgA-deficient (1 in 18,000– bronchospasm Epinephrine plasma products 170,000) Nausea, vomiting, Supportive care Washed cellular abdominal cramps, diarrhea blood products Shock, vascular instability, loss of consciousness Febrile Antibodies to Fever, chills Stop transfusion Pretransfusion nonhemolytic granulocytes Dyspnea, anxiety Demerol antipyretics (1 in 50–100) Cytokines in plasma Antipyretics Leukocyte-reduced blood products Transfusion- Antigranulocyte Bilateral pulmonary edema Supportive Do not use plasma related acute antibodies in donor Cyanosis, hypoxemia products from lung injury product Respiratory distress, cough implicated donor (TRALI) (1 in Hypotension, normal 5,000–10,000) central venous pressure ARDS-like picture Fever, chills Circulation Hypervolemia Dyspnea, cyanosis, Diuretics Pretransfusion overload Rapid infusion hypoxemia Oxygen diuretics CHF Tachycardia, hypertension Phlebotomy Slow infusion Pulmonary edema, cough Limit volume RBC, red blood cell; IgA, immunoglobulin A; CHF, congestive heart failure; DIC, disseminated intravascular coagulation; ARDS, adult respiratory distress syndrome. Suspect methemoglobinemia if: Ⅲ Oxygen-unresponsive cyanosis Ⅲ Chocolate brown blood TREATMENT Ⅲ Again, depends on concentration Ⅲ < 30%: treatment not needed Ⅲ 30–70%: IV methylene blue Ⅲ If no response: hyperbaric O 2 Ⅲ Oral ascorbic acid (200–500 mg) PORPHYRIA DEFINITION AND ETIOLOGY Protoporphyrin is essential molecule of heme proteins. Porphyria refers to a group of disorders characterized by an inherited deficiency of the heme biosynthetic pathway. S IGNS AND SYMPTOMS Ⅲ Photosensitivity (with edema and blister formation) Ⅲ Neurologic (myalgias, numbness, tingling, back and extremity pain, loss of deep tendon reflexes) Ⅲ Red urine Ⅲ Severe crampy abdominal pain Ⅲ Tachycardia D IAGNOSIS Ⅲ Hyponatremia Ⅲ Renal insufficiency Ⅲ Serum/urine porphyrin levels T REATMENT Ⅲ For acute attacks: analgesia, hydration, maintain electrolytes, IV hematin Ⅲ Long-term management: Ⅲ Avoid alcohol and all drugs that can precipitate an attack Ⅲ High-carbohydrate diet Ⅲ Sunscreen POLYCYTHEMIA DEFINITION Abnormal elevation of Hct (> 55%). E TIOLOGY Ⅲ Absolute/primary (defect of hematopoietic stem cell): Ⅲ Polycythemia vera (increase in all cell lines)—mean age 60 years Ⅲ Elevated erythropoeitin level (hypoxia, e.g., cyanotic congestive heart disease, renal tumors) Ⅲ Relative/secondary (e.g., dehydration, burns) E PIDEMIOLOGY Very rare in children. S IGNS AND SYMPTOMS Ⅲ Headache, weakness, dizziness Ⅲ Hepatosplenomegaly D IAGNOSIS Ⅲ Increased RBC mass Ⅲ Arterial oxygen saturation > 92% 259 HIGH-YIELD FACTS Hematologic Disease Ⅲ Splenomegaly or two of the following: Ⅲ Thrombocytosis Ⅲ Leukocytosis Ⅲ Increased leukocyte alkaline phosphatase activity without fever or in- fection Ⅲ Increased serum vitamin B 12 or unsaturated B 12 binding capacity T REATMENT Ⅲ Phlebotomy (Hct ≤ 45%) Ⅲ Chemotherapy C OMPLICATION Acute myelogenous leukemia (AML). DISORDERS OF WHITE BLOOD CELLS Neutropenia D EFINITION Absolute neutrophil count (ANC) < 1,500/mm 3 : Ⅲ Mild 1,000–1,500 Ⅲ Moderate 500–1,000 Ⅲ Severe < 500 E TIOLOGY Ⅲ Congenital Ⅲ Kostmann syndrome Ⅲ Schwachmann syndrome Ⅲ Fanconi syndrome Ⅲ Acquired Ⅲ Infection Ⅲ Immune Ⅲ Hypersplenism Ⅲ Drugs Ⅲ Aplastic anemia Ⅲ Vitamin B 12 , folate, or copper deficiency S IGNS AND SYMPTOMS Ⅲ Increased susceptibility for infection Ⅲ Stomatitis, gingivitis, recurrent otitis media, cellulitis, pneumonia, and septicemia LEUKEMIA EPIDEMIOLOGY Ⅲ Leukemia is the most common malignancy, followed by brain tumors. R ISK FACTORS Ⅲ Trisomy 21 Ⅲ Fanconi’s anemia Ⅲ Bloom’s syndrome Ⅲ Immune deficiency Ⅲ Wiskott–Aldrich syndrome Ⅲ Agammaglobulinemia Ⅲ Ataxia–telangiectasia 260 HIGH-YIELD FACTSHematologic Disease A 3-year-old girl has had fever, anorexia, and fatigue for the past month. She has lost 5 kg. She has pallor, cervical adenopathy, splenomegaly, skin ecchymoses, and petechiae. Think: Acute leukemia. Typical Scenario ANC = Total WBC × (Segs + Bands). SIGNS AND SYMPTOMS Ⅲ Fever Ⅲ Pallor Ⅲ Bleeding Ⅲ Bone pain Ⅲ Abdominal pain Ⅲ Lymphadenopathy Ⅲ Hepatosplenomegaly Acute Lymphoblastic Leukemia (ALL) D EFINITION Malignant disorder of lymphoblasts. E PIDEMIOLOGY Ⅲ Most common malignancy in children Ⅲ 80% of leukemia in children S IGNS AND SYMPTOMS Ⅲ Fatigue, anorexia, lethargy, pallor Ⅲ Bone pain Ⅲ Fever Ⅲ Bleeding, bruising, petechiae Ⅲ Lymphadenopathy Ⅲ Hepatosplenomegaly Ⅲ Bone tenderness Ⅲ Testicular swelling Ⅲ Septicemia D IAGNOSIS Ⅲ CBC: anemia, abnormal white count, low platelet count Ⅲ Electrolytes, calcium, phosphorus, uric acid, lactic dehydrogenase (LDH) Ⅲ Chest x-ray (mediastinal mass) Ⅲ Bone marrow—hypercellular, increased lymphoblasts Ⅲ Cerebrospinal fluid (CSF)—blasts T REATMENT Ⅲ Four phases: Ⅲ Remission induction: cytoxan, vincristine, prednisone, L-asparagi- nase, and/or doxorubicin. Ⅲ Consolidation: may add 6MP, 6TG, or cytosine arabinoside Ⅲ Maintenance therapy: 2 years—methotrexate and 6MP, may add vin- cristine and prednisone Ⅲ CNS prophylaxis: Methotrexate to CSF, may have radiation to the head Ⅲ Infection prevention—antibiotics, isolation if necessary Acute Myelogenous Leukemia (AML) D EFINITION Malignant proliferation of immature granular leukocytes. E PIDEMIOLOGY Ⅲ 15–20% of leukemia cases Ⅲ Occurs primarily in children < 1 year old Ⅲ 1 in 10,000 people 261 HIGH-YIELD FACTS Hematologic Disease Marrow exam is essential to confirm the diagnosis of ALL. ETIOLOGY Predisposing factors Ⅲ Trisomy 21 Ⅲ Diamond–Blackfan syndrome Ⅲ Fanconi’s anemia Ⅲ Bloom syndrome Ⅲ Kostmann’s syndrome Ⅲ Toxins such as benzene Ⅲ Immunosuppression Ⅲ Polycythemia vera S IGNS AND SYMPTOMS Ⅲ Manifestations of anemia, thrombocytopenia or neutropenia, including fatigue, bleeding, and infection Ⅲ Chloroma—localized mass of leukemic cells Ⅲ Bone/joint pain Ⅲ Hepatosplenomegaly Ⅲ Lymphadenopathy D IAGNOSIS Ⅲ > 25% myeloblasts in the bone marrow, hypercellular Ⅲ Abnormal white count, platelet count, and anemia Ⅲ Bone destruction and periosteal elevation on x-ray T REATMENT Ⅲ Two phases: Ⅲ Remission induction: 1 week—anthracycline (daunorubicin) and cy- tosine arabinoside (cytarabine) Ⅲ Postremission therapy: several more courses of high-dose cytarabine chemotherapy, allogenic stem cell transplant, or autologous stem cell transplant Ⅲ Infection prevention—isolation, antibiotics Ⅲ RBC transfusions for anemia Ⅲ Platelet transfusions for bleeding Ⅲ Complete remission in 70–80% Chronic Myelogenous Leukemia (CML) D EFINITION Clonal disorder of the hematopoietic stem cell with specific translocation. E TIOLOGY Philadelphia chromosome t(9;22)(q34;q11). E PIDEMIOLOGY Tends to occur in middle-aged people. S IGNS AND SYMPTOMS Ⅲ Insidious onset Ⅲ Splenomegaly (massive) Ⅲ Fever, bone pain, sweating T REATMENT Ⅲ Hydroxyurea Ⅲ α-Interferon Ⅲ Bone marrow transplant Ⅲ Radiation 262 HIGH-YIELD FACTSHematologic Disease CML often gets diagnosed when CBC is performed for other reasons. Juvenile Chronic Myelogenous Leukemia (JCML) D EFINITION Ⅲ Clonal condition involving pluripotent stem cell Ⅲ < 2 years E PIDEMIOLOGY Ninety-five percent diagnosed before age 4. S IGNS AND SYMPTOMS Ⅲ Skin lesions (eczema, xanthoma, café au lait spots) Ⅲ Lymphadenopathy Ⅲ Hepatosplenomegaly D IAGNOSIS Ⅲ Monocytosis Ⅲ Increased marrow monocyte precursors Ⅲ Philadelphia chromosome absent Ⅲ Blast count Ⅲ < 5% (peripheral blood) Ⅲ < 30% (marrow) T REATMENT Ⅲ Complete remissions have occurred with stem cell transplant. Ⅲ Majority relapse, with overall survival of 25%. Congenital Leukemia D EFINITION Serious neonatal malignancy. E PIDEMIOLOGY Ⅲ Rare Ⅲ AML more common, unlike the predominance of ALL in later child- hood Lymphoma D EFINITION Ⅲ Lymphoid malignancy arising in a single lymph node or lymphoid re- gion (liver, spleen, bone marrow) Ⅲ Hodgkin’s Ⅲ Nodular sclerosing (46%—most common) Ⅲ Mixed cellularity (31%) Ⅲ Lymphocyte predominance (16%) Ⅲ Lymphocyte depletion (7%) Ⅲ Non-Hodgkin’s (10% of all pediatric tumors) Ⅲ Lymphoblastic Ⅲ Burkitt’s (39%) Ⅲ Large cell or histiocytic S IGNS AND SYMPTOMS Ⅲ Fever, night sweats Ⅲ Weight loss, loss of appetite Ⅲ Cough, dysphagia, dyspnea Ⅲ Lymphadenopathy—lower cervical, supraclavicular Ⅲ Hepatosplenomegaly 263 HIGH-YIELD FACTS Hematologic Disease Neurofibromatosis is associated with an increased incidence of JCML and leukemia. Reed–Sternberg cells are characteristic of Hodgkin’s lymphoma. Suspicious lymph nodes are: Ⅲ Painless, firm, and rubbery Ⅲ In the posterior triangle [...]... Disease HIGH-YIELD FACTS The first step in evaluating any seizure disorder is determining the type of seizure Motor activity is the most common symptom of simple partial seizures The presence of an aura always indicates a focal onset of the seizure Physiologically, an aura is simply the earliest conscious manifestation of a seizure I Partial seizures (seizures with focal onset) A Simple partial seizures... Markedly increased 1 7- hydroxyprogesterone Most urgent tests for congenital adrenal hyperplasia: 1 Serum glucose 2 Serum electrolytes Other tests: cortisol, testosterone, 1 7- OH progesterone HIGH-YIELD FACTS TREATMENT Ⅲ Fluid and electrolyte replacement Ⅲ Normal saline (NS) 20 mL/kg bolus, then maintenance plus ongoing fluid losses Ⅲ Management of hypoglycemia Ⅲ Hydrocortisone 25 mg IV bolus, then 50 mg/m2/24... onset 1.5 to 13 years, peak at 7 to 8; infrequent par- TABLE 1 7- 2 Epilepsy drugs Drug Simple Partial Complex Partial Tonic–Clonic Phenytoin X X X Carbamazepine X X X Lamotrigine X X X Gabapentin X X X Topiramate X X Phenobarbital X Ethosuxamide Status Epilepticus X X Valproate Absence X (infants) X X (IV form) X Diazepam X (often lorazepam) X, clinical use 288 TABLE 1 7- 3 Localizing/lateralizing seizure... resistant (rarely used) 277 Endocrine Disease ETIOLOGY Ⅲ Bacterial meningitis Ⅲ Positive pressure ventilation Ⅲ Rocky Mountain spotted fever Ⅲ Pneumonia SEXUAL DEVELOPMENT Ⅲ Ⅲ Pubertal events are classified by Tanner staging See Table 1 6-2 and Figure 1 6-1 NORMAL FEMALE PROGRESSION Thelarche → height growth spurt → pubic hair → menarche (13 years) Endocrine Disease HIGH-YIELD FACTS The increase in height... testosterone Ⅲ No increase in gonadotropins after gonadotropin-releasing hormone (GnRH) TREATMENT Ⅲ Treatment of underlying cause Ⅲ GnRH analogues 279 A 7- year-old girl develops enlarged breasts Six months later she begins to develop pubic and axillary hair Her menses began at age 8 Think: Idiopathic precocious puberty Typical Scenario A 9-year-old girl has nontender, unilateral breast enlargement with... tonic movements Ⅲ Tend to involve the face, neck, and extremities Ⅲ Patients may complain of preictal aura, which is characteristic for the brain region involved in the seizure (i.e., visual aura, auditory aura, etc.) 2 Complex partial seizures: Ⅲ Average duration is 1 to 2 minutes Ⅲ Hallmark feature is alteration or loss of consciousness 285 TABLE 1 7- 1 Outline of the international classification of... disease Ⅲ Vitamin D deficiency 269 Endocrine Disease Ⅲ Ⅲ Ⅲ Ⅲ HIGH-YIELD FACTS A 10-year-old girl has a 3year history of growth failure A moderate-sized multinodular goiter is palpated T4 is 3.1 µg/dL, and TSH 322 µU/mL Think: Acquired hypothyroidism, and check a T3 resin uptake Typical Scenario Endocrine Disease HIGH-YIELD FACTS A 10-year-old girl has severe abdominal pain and gross hematuria She passes... brief self-limited autosomaldominant condition with generalized seizures beginning in the first week of life and subsiding within 6 weeks There is a normal interictal EEG There is a 10–15% chance of future epilepsy, but otherwise carries an excellent prognosis Always elicit a family history in neonatal seizures Ⅲ If you are present during a tonic–clonic seizure: Ⅲ Keep track of the duration Ⅲ Place the patient... patient between prone and lateral decubitus to allow the tongue to fall forward Ⅲ Hyperextend the neck and jaw to enhance breathing Ⅲ Loosen any tight clothing or jewelry around the neck Ⅲ Do not try to force open the mouth or teeth! EPIDEMIOLOGY Epilepsy occurs in 0.5–1% of the population and begins in childhood in 60% of the cases Neurologic Disease HIGH-YIELD FACTS Unprovoked seizure: unrelated to current... Therapy is directed at preventing the attacks See Table 1 7- 2 for current pharmacologic treatments for epilepsy COMMON EPILEPSY SYNDROMES See Table 1 7- 3 for localizing/lateralizing seizure semiologies Ⅲ Localization-related epilepsy: Seizures secondary to a focal CNS lesion, not necessarily visible on imaging, best candidates for epilepsy surgery Common examples include masses (particularly cortical tubers . during the first month of life, 30% in the first year. Transient Hyperinsulinemia E TIOLOGY Ⅲ Excessive insulin secretion in infants Ⅲ Small-for-gestational-age (SGA) or premature infants 266 HIGH-YIELD. dyspnea, tachycardia, dizziness Ⅲ 50 70 %: lethargy, stupor Ⅲ > 70 %: death D IAGNOSIS Methemoglobin level. 258 HIGH-YIELD FACTSHematologic Disease TABLE 1 5-6 . Transfusion reactions. Type Etiology. circumference is at the 50th percentile. Think: Hyperinsulinism. Typical Scenario A 14-year-old boy with an 8-year history of diabetes mellitus has had frequent admissions for DKA in the past 18 months.