Celiac Disease Diagnosis and Treatment
Blunting of Intestinal Villi Lymphocytes in Lamina Propria Anti-gliadin Antibodies (IgA) Anti-endomysial Antibodies (IgA) Anti-tissue Transglutaminase Antibodies (IgA) Gluten-Free Diet Corticosteroids Dapsone Intestinal Lymphoma Strawberry Hemangioma (Superficial Infantile Hemangioma) 4404
Most common benign vascular tumor in children Composed of capillaries separated by connective tissue Bright red, shaqily demarcated plaques that blanch with pressure Can also be found in deep tissues and the viscera (eg, liver) Appear during the first days or weeks after birth and grow rapidly during the first 1-2 years of life Majority of these lesions regress spontaneously A minority of lesions can be disfiguring, ulcerating, disabling (eg, strabismus from eyelid hemangioma), or life-threatening (eg, tracheal lesions) Beta blockers (eg, propranolol) are recommended for patients at risk for complications May present as patch of telangiectasias at birth TOPICAL beta blocker Vision impairment if near eye Rarely requires surgical intervention Immune Thrombocytopenic Purapura
Most common cause of thrombocytopenia in both children and adults IgG against platelet antigens GPIIb/IIIa Autoantibodies produced by plasma cells in the spleen Antibodies associated with platelets are consumed by splenic macrophages Acute: Occurs in children weeks after a viral infection or immunization, resolves in weeks Chronic: Occurs in adults, usually women of childbearing age; primary or secondary (SLE) IgG can cross placenta causing temporary thrombocytopenia in offspring HIV and Hepatitis C association Low platelet counts, normal PT/PTT, increased megakaryocytes on bone marrow biopsy Increased Bleeding time Petechia, purapura, ecchymosis Corticosteroids, effective for children, temporary relief for adults with later resistance IVIG used in acute cases Splenectomy (removes source of antibodies) in corticosteroid resistant cases Alternative treatment: Rituximab Children: Skin manifestations only: Observe, Bleeding: IVlg OR Glucocorticoids Adults: Platelets ≥30,000/μL without bleeding Observe, Platelets <30,000/μL OR bleeding: IVig OR Glucocorticoids Diagnosis of Exclusion Negative direct antiglobulin test Acute and self-limiting in children but usually becomes a chronic disorder in adults Corticosteroids are a first-line treatment, IVIG is for resistant cases Anti-Rh (D) is an alternate treatment option in rhesus-positive non-splenectomized patients Fetal Alcohol Syndrome 565
Newborns of alcohol-consuming mothers have increased incidence of congenital abnormalities Including pre- and postnatal developmental retardation, microcephaly, facial abnormalities (Pictured) Leading cause of intellectual disability in the US Smooth philtrum, thin vermillion border [upper lip], small palpebral fissures, limb dislocation, heart defects Heart-lung fistulas and holoprosencephaly in most severe form Mechanism is failure of cell migration VSD, PDA, ASD, tetralogy of Fallot Social withdrawal, and delays in motor and language milestones Down Syndrome (OLD VERSION)
Trisomy 21 Meiotic nondisjunction Mental retardation Flat facies Prominent epicanthal folds Simian crease Duodenal Atresia Endocardial cushion defects Septum primum type ASD Increased risk of Acute lymphoblastic leukemia Hirschsprung's disease Alzheimer's Disease Phenytoin
Status Epilepticus Tonic-Clonic Seizures Blocks Na+ Channel Activation Inhibition of Glutamate Release Class IB Antiarrhythmic Teratogenic Macrocytic Megaloblastic Anemia Induce Cytochrome P450 Drug-induced Lupus Neuropathy Hirsutism Gingival Hyperplasia Acute Cervical Adenitis in Children 4353
Acute lymphadenitis (LAD) arises over a few days Nodes are enlarged, tender, warm, and erythematous; If untreated --> progress to suppuration and abscess Empiric antibiotic therapy for acute, unilateral lymphadenitis typically involves clindamycin Staphylococcus aureus (most common) and Streptococcus pyogenes Pronounced erythema, tenderness Most common is staph aureus Another question says staph and strep pyogenes are both the most common Anaerobic bacteria (eg, Prevotella buccae) Dental caries, periodontal disease Bartonella Henselae Papular nodular at site of cat scratch or bite May be eyrhtematous (overlying the adenopathy) Mycobacterium avium Gradual onset, nontender Francisella tularensis Fever, chills, headache, and malaise Adenovirus Pharyngoconjunctivitis EBV/CMV Mononucleosis Inguinal and axillary adenopathy are also usually present, cervical region is most prominent 322 Congenital Hypothyroidism (Cretinism), Subacute Granulomatous Thyroiditis (de Quervain), Riedel Thyroiditis
Fetal hypothyroidism due to maternal hypothyroidism, thyroid agenesis, thyroid dysgenesis (most common in US) Additional causes: iodine deficiency, dyshormonogenetic goiter; congenital defect in thyroid peroxidase Findings: Pot-bellied, Pale, Puffy-faced child with Protruding umbilicus, Protuberant tongue, and Poor brain development: the 6 P’s Short stature with skeletal abnormalities Uncomplicated umbilical hernia U. Lethargic, hoarse cry, poor feeding, constipated, jaundice, dry skin, large fontanelles U. Treat with levothyroxine by 2 weeks to reduce developmental issues Most often asymptomatic Diagnosis: Newborn screening, increased TSH, decreased T4 Management: Confirm TSH, T4, Start levothyroxine immediately, thyroid ultrasound, Refer to endocrinology At risk for permanent neurological defects without treatment Most infants lack clinical signs of hypothyroidism at birth as maternal T4 crosses the placenta Intellectual disability if hormone replacement is not initiated by age 2 weeks Self-limited disease often following a flu-like illness (eg, viral infection); may progress to hypothyroidism Hyperthyroid early in course, followed by hypothyroidism; early in course neutrophil infiltrate which is replaced by granulomas Histology: granulomatous inflammation Findings: Increased ESR and CRP, jaw pain, very tender/painful thyroid Decreased radioiodine uptake Treatment: symptomatic via beta blockers (thyrotoxic symptoms), NSAIDs for pain; Glucocorticoids for NSAID resistant pain Other possible findings include leukocytosis, mild anemia, and mild elevation of liver enzymes Thyroid replaced by fibrous tissue with inflammatory infiltrate (Pictured) Fibrosis may extend to local structures (eg, trachea, esophagus), mimicking anaplastic carcinoma 1/3 are hypothyroid Manifestation of IgG4-related systemic disease (eg, autoimmune pancreatitis, retroperitoneal fibrosis, noninfectious aortitis) Findings: fixed, hard (rock-like), painless goiter Mimics anaplastic carcinoma but patients are around 40 and no malignant cells Hypertrophic Cardiomyopathy Mechanisms
2/3 Autosomal-Dominant 1/3 Sporadic Type Mutation in Gene for Sarcomere Protein Cardiac Myosin Binding Protein C Asymmetric Septal Hypertrophy Outflow Tract Obstruction Diastolic Dysfunction Pediatric Viral Myocarditis 4854
Coxsackie B virus Adenovirus Viral prodrome Heart failure: Dyspnea, syncope, tachyca rdia, nausea, vomiting, hepatomegaly Impairment of systolic and diastolic function. Chest x-ray: Cardiomegaly Pulmonary edema Healthy infants age 1 transverse cardiothoracic ratio of ≤60% (older than 1 has ≤50%) ECG: Sinus tachycardia Echocardiogram: Decreased ejection fraction Diffuse hypokinesis Endomyocardial biopsy (gold standard): Inflammatory infiltrate of the myocardium with myocyte necrosis Mortality: Newborns: -75% Older infants/children: - 25% Outcome of survivors: Full recovery within 2-3 months: -66% Dilated cardiomyopathy/chronic heart failure : -33% Diuretics and inotropes Monitored in the intensive care unit due to the risk of shock and fatal arrhythmias Troponins, CK-MB, ESR and CRP can give clues to degree of cardiac disease Pinworm (Enterobius Vermicularis)
Nematode (Roundworm) Ingestion of Eggs Intestinal Infection Anal Pruritus Scotch Tape Test Albendazole Pyrantel Pamoate Differential Diagnosis of Stridor 4497
Croup Foreign body aspiration Most common in infants/toddlers Laryngomalacia Vascular ring Presents in infants (usually under one year of age) Biphasic (more prominent in exhalation) stridor that improves with neck extension (decreases tracheal compression) Abnormal development of the aortic arch, causing tracheal, bronchial, and/or esophageal compression Complete (circumferential around trachea and/or esophagus), such as double aortic arch, or incomplete (pulm artery sling) Up to 50% of patients also have a cardiac anomaly Esophageal (eg, dysphagia, vomiting, difficulty feeding) symptoms Barium swallow identifies indentations of the structures, confirmed by MRI with angiography Can present in adulthood, often presenting symptom is dysphagia Iron Deficiency Anemia
Malnutrition/Malabsorption Hemorrhage Microcytic, Hypochromic Anemia Decreased Heme Synthesis Decreased Reticulocytes Decreased Ferritin Increased Red Cell Distribution Width (RDW) Poikilocytosis Anisocytosis Increased Central Pallor Febrile Seizure 4841
Fever from mild viral/bacterial illness or recent immunization Family history Typically age 3 months to 6 years No previous afebrile seizure No meningitis or encephalitis No acute metabolic cause Abortive therapy (if greater than or equal to 5 minutes) Reassurance Normal development/intelligence -30% risk of recurrence <5% risk of epilepsy Does not cause brain injury Antipyretics for comfort, but no evidence that these will reduce the risk of future febrile seizures Rate of rise that causes seizure (but now they dont know if its rate or height) Only 1 x 24 hours, < than 15 minutes, must be complex ie affect entire brain (if negative on one then its complex febrile seizure) Regardless of simple or complex give a benzo If complex do EEG if you think its a seizure, an LP if you think its meningitis and an MRI looking for anything else in the brain Long term anti epileptics if complex Focal Seizure 2280
Originates from 1 cerebral hemisphere +/- Loss of consciousness May generalize to involve both hemispheres EEG: abnormal electrical activity that is sustained with a distinct start and stop (different from baseline) Motor: Jacksonian march, turning of eyes/head/trunk Sensory: Paresthesias, vertigo, visual phenomena Autonomic: Sweating, epigastric "rising" sensation Psychic: "Deja vu" affective changes (eg, fear) May also present with a decline in academic performance Hyper IgM Syndrome
Deficient CD40 Ligand on Helper T-cells Defective CD40 Receptor on B-cells Inability to Class Switch Pyogenic Abscess Decreased IgG, IgA, IgE 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 Timeline of Infant Nutrition 2479
Symbols Iron deficiency anemia is the single most common nutritional deficiency in infants and children and is often asymptomatic Born with iron stores that prevent them from developing iron deficiency anemia until age 4-6 months, regardless of dietary intake Prematurity, and early introduction of cow's milk before age 12 months increases the risk Supplementation should be continued until age 1 year in preterm infants All exclusively breastfed infants should be started on 400 International Units of vitamin D daily within the first month of life Pureed fruits and vegetables should be introduced first followed by pureed proteins such as meats No evidence suggesting that early introduction of highly allergenic foods such as eggs is associated with an increased risk of allergies American Academy of Peds (AAP): exclusive breastfeeding until 6 months, earlier intro of solids --> gastrointestinal infections Maternal vitamin D deficiency increases risk of deficiency in the infant Borrelia burgdorferi
Lyme Disease Spirochete Dark-field Microscopy Giemsa Stain Silver Stain White-footed Mouse Ixodes Tick Babesia Anaplasmosis Flu-like Symptoms Erythema Migrans Bulls Eye Rash Bilateral Bell's Palsy Conduction Defects Arthropathy Doxycycline Ceftriaxone Breastfeeding Contraindications 4892
Breast milk is recommended as the exclusive source of. nutrition for infants age Longer postpartum anovulation More rapid uterine involution & decreased postpartum bleeding Faster return to prepartum weight Improved maternal-infant bonding Improved child spacing Decreased breast and ovarian cancer risk Active untreated tuberculosis (mothers may breastfeed after 2 weeks of anti-tuberculin therapy) Maternal HIV infection (in developed countries where formula is readily available) Herpetic breast lesions Active varicella infection (<5 days prior to or within 2 days of delivery) Chemotherapy or radiation therapy Active substance abuse including alcohol Mothers with hep B/C should breastfeed unless nipples are cracked or bleeding Improved gastrointestinal function Prevention of infectious diseases: Improved immunity Otitis media, Gastroenteritis, Respiratory illnesses, Urinary tract infections Decreased risk of childhood cancer, type I diabetes mellitus & necrotizing enterocolitis Psychological well being Galactosemia HIV-positive women in resource-rich countries are advised to feed their infants with formula rather than breast milk Resource-poor countries should breastfeed; high rates of infant death from water-borne diseases associated with formula View More
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