Pediatrics Final exam

flat, distinct, discolored area of skin. It usually does not include a change in skin texture or thickness.

solid or cystic raised spot on the skin that is less than 1 centimeter (cm) wide. It is a type of skin lesion

ring shaped

itching

fluid filled

loss of outer layer

uraised red patches covered with a whitish buildup of dead skins cells called scale

Bacterial- caused by strep A & B hemolytic streptococcus

Fungal

Viral

inflammation of follicule

Highly contagious

-red sores that form around nose and mouth. The sores rupture and ooze then form yellow-brown crust

Antibiotics

ring worm

-affecting scalp

Jock itch

-affecting groin

athletes foot

-affecting feet

affecting any other parts of the body

presents differently; hypopigmentation lesions on upper body

-diaper dermatitis- diaper rash

-contact dermatitis- response to antigenic substance exposure

-erythema multiforme- acute, self limiting hypersensitivity reaction; usually in response to viral infection or medication

-Uriticaria- hives; antigen-antibody response of histamine release from mast cells

atopic dermatitis - eczema; dry, itchy patches

-Seborrhea-chronic inflammatory dermatitis that may occur on the skin or scalp; excess oil accumulation; cradle cap.

-Psoriasis-chronic inflammatory skin disease with periods of remission and exacerbation; build up of scaley red lesions that may burn or itch

-change diapers frequently

-avoid harsh soaps, baby wipes with fragrance/preservatives

-allow child to go diaper less for periods of time

-blow dry rash area (we don't want it wet)

Causes

-Antigenic substance exposure

-Allergy to nickel or cobalt in clothing, hardware, or dyes

-Exposure to highly allergenic plants: poison ivy, oak, and sumac

Complications

-Secondary bacterial skin infection

-Lichenification (thick and leathery) or hyperpigmentation

-Turf burns

-Towel sharing

-Participation in team sports

-Attendance at day care or outdoor camps

-Foods

-Drugs

-Animal stings

-Infections

-Environmental stimuli

-Stress

-Pressure ulcers

-Minor injuries

-Burns

-Sunburn

-Cold injury- frost-bite; 1^st-4^th degree; 

-Animal bites – dog bites most frequent; cat bite most infection; hand and face common site; rabies, tetanus

-Insect stings and bites-Hymenoptera class of insects sting; bacterial infection can follow, anaphylaxis

-Promoting oxygenation and ventilation

-Restoring and maintaining fluid volume

-Preventing hypothermia

-Cleansing the burn

-Preventing infection

-Managing pain with atraumatic care

-Treating infected burns

-Providing burn rehabilitation

-Antibiotics (topical, systemic)

-Corticosteroids (topical)

-Antifungals (topical, systemic)

-Topical immune modulators (moderate to severe atopic dermatitis)

-Antihistamines

-Isotretinoin (cystic or severe acne)

-Coal tar preparations (psoriasis, atopic dermatitis)

-Silver sulfadiazine 1% (burns)

50% chance of child having affected genes

25% chance of having child affected

•Maternal age older than 35 years or paternal age older than 50​

•Repeated premature births, breech delivery - Congenital hip dysplasia​

•Abnormalities found on ultrasound or in prenatal blood screening tests​

•Amniotic fluid abnormalities​

•Multiple births​

•Exposure to medications and known teratogens​

•Decreased fetal movement​

Recommend Genetic counseling - allows families the opportunity to prepare for special needs of an unborn child and to consider options for current and future pregnancies​

type 1 most common (von Recklinghausen disease) tumors grow on nerves; skin changes, bone deformties; progressive disease; diagnosis = two or more clinical signs including – 2 or more neurofibromas, tumor on optic nerve, more than 6 café-au-lait spots(brown spot) > 5 mm diameter à high level of suspicion; treament is supportive

rare; usually presents in 30-40’s; progressive breakdown of nerve cells in brain; muscle problems, abnormal eye movements, impaired gait

most common type of short-limbed dwarfism; can also be a mutation; short limbs, large head, average trunk; 4 ft 1in – 4ft 4in; sleep apnea, ear infections, spinal stenosis

affects connective tissue effects the heart, eyes, blood vessels, and bones; tall and thin with long arms, legs, fingers, and toes; treatment includes medications to keep blood pressure low, eyeglasses or contact lenses, and surgery.

brittle bone

•Headaches​

•Hydrocephalus​

•Scoliosis​

•Cardiac defects, hypertension, seizures​

•Vision and hearing loss​

•Neurocognitive deficits​

•Higher risk for neoplasms ​

affects the cells that produce mucus, sweat, and digestive juices. It causes these fluids to become thick and sticky. They then plug up tubes, ducts, and passageways.

amino acid called phenylalanine to build up in the body; untreated phenylketonuria can lead to brain damage, intellectual disabilities, behavioral symptoms, or seizures; Treatment includes a strict diet with limited protein

destroys nerve cells in the brain and spinal cord; typically found in people with certain ancestry, such as Eastern European Jews; A fatty substance in the brain destroys nerve cells; Symptoms of slowed development usually appear around six months of age. Symptoms progress until they lead to death, often around age four; There is no cure

prolonged bleeding due to insufficent clotting factors; hemophilia A, associated with a low level of factor 8 (factor VIII

reduced ability to distinguish between certain colors.

progressive muscular weakness, typically in boys; no cure, but steroids may control symptoms 

(The way they get up- gawar sign)

Cause​

•Presence of all or part of an extra 21st chromosome​

Characteristics​

•Some degree of intellectual disability​

•Characteristic facial features​

•Other health problems (e.g., cardiac defects, visual and hearing impairment, intestinal malformations, and an increased susceptibility to infections)​

•Have your child evaluated by a pediatric cardiologist, including an echocardiogram​

•Take your child for routine vision and hearing tests. By 6 months have your child seen by a pediatric ophthalmologist​

•Make sure your child gets regular medical care, including recommended immunizations and a thyroid test at 6 and 12 months and then yearly​

•Have your child follow a regular diet and exercise routine​

•Make sure the child gets a cervical radiograph between 3 and 5 years of age to screen for atlantoaxial instability (C1 and C2). 

Recommend genetic counseling

oMultidisciplinary care

•Loss of all or part of an X chromosome​

•Webbed neck​

•Low posterior hairline​

•Wide-spaced nipples​

•Edema of the hands and feet​

•Amenorrhea​

•No development of secondary sex characteristics​

•Sterility​

•Perceptual and social skill difficulties​

•One or more extra X chromosome; affects males​

•Decreased facial hair​

•Gynecomastia​

•Decreased pubic hair​

•Hypogonadism ​

•Underdeveloped testes,​

•Taller than average by 5 years of age, with long legs and a short torso ​

•Cognitive impairments of varying degree: motor delay, speech or language difficulties, attention deficits, and learning disabilities ​

•Most common inherited cause of intellectual disability; can affect males and females but females typically have milder symptoms​

•Minor dysmorphic features​

•Developmental delay/Intellectual impairment​

•Behavior problems:​

•Attention deficits​

•Hand flapping and biting​

•Hyperactivity​

•Shyness and social isolation​

•Low self-esteem​

•Gaze aversion​

Iron deficiency, folic acid deficiency, pernicious anemia (deficiency in B12)

-lead poisoning

toxic effect on bone marrow, interferes with synthesis of heme- precursor to hgb

failure of bone marrow to produce cells- acquired as an adverse reaction to medication (chemo, anticonvulsants).

-rare congenital bone marrow failure (fanconi anemia- autosomal recessive )

sickle cell anemia, thalassemia

-red meat

-tuna & salmon

-eggs

-tofu

-leafy green veggies

-dried beans, peas and fruit

-enriched grains

-iron fortified breakfast cereals

History

Exposure to myelosuppressive medications or radiation therapy

Detailed family, environmental, and infectious disease history

Epistaxis, gingival oozing, or increased bleeding with menstruation

Headache, fatigue

Physical examination

Ecchymoses

Petechiae or purpura

Oral ulcerations

Tachycardia

Tachypnea

Lower levels-Behavioral problems-Learning difficulties

Higher levels (requires chelation treatment)-Encephalopathy-Seizures-Brain damage

Thalassemia - inherited blood disorder that causes less hemoglobin; anemia; can be mild to severe

Sickle cell disease (SCD)- inherited, most common in autosomal recessive, African, Mediterranean, middle eastern, and Indian descent, hemoglobin SS disease is most common (crescent shaped blood cells)

Types of SCD:

Hemoglobin Ss (Hbss)

Hb "S" gene (abnormal form of hemoglobin) from each parent → sickle cell anemia;

More of the Hb is abnormal

more severe form of the disease

Hemoglobin SC (HbSC) - less severe form

one HbS gene and one HbC gene (another abnormal type)

Sickle cell trait-

Only have HbS from one parent

-Anemia

-Pain/sickle cell crisis

-acute chest syndrome

-stroke

-jaundice

-splenic pooling

-priapism

-pain medication

-hydration

-blood transfusions

-vaccinations

-folic acid for anemia

-eye exams to assess retinopathy

-Hydroxyurea- medication that may reduce frequency of pain crisis and ACS; makes RBC less likely to turn into sickle shape

-Bone marrow transplant- for children with severe complications

alpha-thalassemia -severity depends on number of gene mutations you inherit; ; synthesis of the a chain of the hemoglobin protein is affected

beta-thalassemia- severity depends on part of the hemoglobin molecule is affected. the B-globulin chain in hemoglobin synthesis is reduced or entirely absent; severe hemolytic anemia and chronic hypoxia

Thalassemia minor (also called B-thalassemia trait): leads to mild microcytic anemia; often no treatment is required.

Thalassemia intermedia: child requires blood transfusions to maintain adequate quality of life.Thalassemia major: to survive the child requires ongoing medical attention, blood transfusions, and iron removal; Cooley's Anemia

Left untreated, B-thalassemia major is fatal by age 5 years, but use of blood transfusions and chelation therapy increases life expectancy of these children

Excessive supply of iron; accumulation in tissues

Result of rapid hemolysis of RBCs, decrease in hemoglobin production, increased absorption of dietary iron in response to the severely anemic state.

excess iron is deposited in the body's tissues, causing bronze pigmentation of the skin, bony changes, and altered organ function, particularly in the cardiac system, splenomegaly, endocrine abnormalities, osteoporosis, liver and gallbladder disease, and leg ulcers.

PRBC transfusions(blood transfusion) as prescribed to maintain an adequate level of hemoglobin for oxygen delivery to the tissues

-Excess iron is removed by chelation therapy. Administer the chelating agent deferoxamine with the transfusion.

Deferoxamine binds to the iron and allows it to be removed through the stool or urine. Oral deferasirox may also be prescribed.

G6PD -an enzyme that helps RBC's work properly is insufficient or abnormal; X-linked recessive

causes red blood cells to break down (hemolysis) in response to certain medications, infections, or other stressors.

Triggers that may result in oxidative stress and hemolysis-

• bacterial or viral illness

exposure to certain substances such as medications (e.g., sulfonamides, sulfones, malaria-fighting drugs [such as quinine], or methylene blue [for treating urinary tract infections]), naphthalene (an agent in mothballs), or fava beans.

• Tea colored urine, splenomegaly

* Administer 02; improve one trigger or illness is removed

-Idiopathic thrombocytopenia purpura (ITP)

-Henoch-Schonlein purpura

-Disseminated intravascular coagulation (DIC)

-Factor deficiencies

-Hemophilia A (factor VIII deficiency)

-von Willebrand disease

Immune response following viral infection that destroy platelets

-Normal platelet count -150,000 to 450,000 platelets per microliter of blood

-Petechiae:Pinpoint hemorrhages occurring on the body that do not blanch to pressure,

-Purpura:Larger purplish areas of hemorrhage in which blood collects under the tissues; complication = bleeding into organs and intracranial pressure - although both rare

* Platelet counts below 10,000/mm3, corticosteroids may be administered for 2 to 3 weeks

• Single dose of intravenous immunoglobulin (IVIG) may be used as an adjunct

-Platelet transfusions are not indicated unless life-threatening bleeding is present.

-Refer the child for follow-up care with a pediatric hematologist.

-Usually, self-limiting

Mostly male children

Associated with viral or bacterial illness- often respiratory

Vasculitis with immunoglobulin A (IgA) -dominant immune deposits affecting small vessels in the skin, gut, and kidney

Benign in most children and resolves with no issues

nephrotic syndrome may occur as a result of renal injury, and those children may have

hypertension.

Pulmonary, cardiac, and neurologic complications can also occur.

Treatment with corticosteroids, such as prednisone, may be helpful in children with severe joint or GI manifestations

Complex condition leads to activation of coagulation

Usually occurs in critically ill childrenSeptic shock, endotoxins, viruses, tissue necrosis, cancer treatments

Deficiencies of coagulation and anticoagulation pathways occur

Hemorrhage and organ tissue damage result and can be irreversible if not recognized and treated immediately.

Treat underlying issue -ex. infection → antibiotics

group of X-linked recessive disorders that result in deficiency in one of the coagulation factors in the blood

transmitted by carrier mothers to their sons, so usually only males are affected by hemophilia

coagulation factors in the blood are essential for clot formation either spontaneously or from an injury, and when factors are absent bleeding will be difficult to stop

The most common= hemophilia A - deficiency of factor VIII

Prevent bleeding

Helmets, avoid contact sports, medical alert bracelet

Mild bleeding disorder

• genetically transmitted bleeding disorder that may affect both genders and all races

deficiency in von Willebrand factor (vWF)

serves two functions:bind with factor VIII, protecting it from breakdownserve as the "glue" that attaches platelets to the site of injury

-The most common childhood cancers in order of frequency-

-Leukemia, CNS tumors, lymphoma, neuroblastoma (adrenal glands), rhabdomyosarcoma (muscles), Wilms tumor (kidney), bone tumors, and retinoblastoma

Warning signs of cancer-

-most often related to changes in blood cell production; changes in blood cell production may result in fatigue, pallor, frequent or severe infection, or easy bruising

-a result of compression, infiltration, or obstruction caused by the tumor; infiltration, obstruction, or compression by a tumor may result in bone or abdominal pain, swelling, unusual discharge

1. carry oxygen throughout body

2. clotting

3. fight infection

Low erythrocyte/rbc- anemia(pica, pale, tired)

Low platelets- prolonged bleeding

Passive

-Antibodies received from an external source (mother to baby, IVIG)

Cellular

-Antibodies produced by native T-cell lymphocytes (thymus)

Humoral

-Antibodies produced by native B-cell lymphocytes (bone marrow)

History of petechiae

• Bloody diarrhea or bleeding episode in the first 6 months of life

History of hematemesis or intracranial or conjunctival hemorrhages

Eczema

Laboratory findings of low IgM concentration, elevated IgA and IgE concentrations, and normal IgG concentrations

Four or more new episodes of acute otitis media in 1 year

Two or more episodes of severe sinusitis

Treatment with antibiotics for 2 months or longer with little effect

Two or more episodes of pneumonia in 1 year

Failure to thrive in the infant

Recurrent deep skin or organ abscesses

Persistent oral thrush or skin candidiasis after 1 year of age

History of infections requiring IV antibiotics to clear

Two or more serious infections such as sepsis

Family history of primary immunodeficiency

-Failure to thrive

-Recurrent bacterial infections

-Opportunistic infections

-Chronic or recurrent diarrhea

-Recurrent or persistent fever

-Developmental delay

-Prolonged candidiasis

-dairy (cows milk)

-eggs

-penuts

-tree nuts

-fish and shellfish

-wheat

-soy

Wiskott-Aldrich Syndrome/ Deficiency -X-linked genetic disorder; defective gene that results in immunodeficiency, eczema, and thrombocytopenia, autoimmune hemolytic anemia, neutropenia, skin or cerebral vasculitis, arthritis, inflammatory bowel disease, and renal disease

Severe Combined Immune Deficiency (SCID) - X-linked or autosomal recessive disorder; it can occur in girls or boys. SCID is

characterized by absent T-cell and B-cell function.

-Chronic diarrhea

-Failure to thrive

-History of severe infections early in infancy

-Persistent thrush

-Adventitious sounds related to pneumonia

-Lab findings of very low levels of immunoglobulins

-Avoiding infection

-How can we avoid infection?

-Promoting compliance with the medication regimen

-Promoting nutrition

-Providing pain management and comfort measures

-Educating the child and caregivers

-Providing ongoing psychosocial support

-SLE definition: chronic multisystem autoimmune disorder with periods of exacerbation and remissions; inflammatory response

Laboratory testing includes:

-CBC (decreased Hgb, Hct)

-Platelet count (decreased)

-WBC (decreased)

Treatment and support - treating the inflammation; NSAIDs, corticosteroids, antimalarials (can reduce autoantibodies), dialysis if in renal failure

(molar/butterfly rash (erythema on cheeks))

Growth hormone deficiency

Precocious puberty

Delayed puberty

Diabetes insipidus

Syndrome of inappropriate antidiuretic hormone secretion

-hypopituitarism or dwarfism, is characterized by poor growth and short stature

-result of the failure of the anterior pituitary or hypothalamic stimulation on the pituitary to produce sufficient GH.

-lack of GH impairs the body’s ability to metabolize protein, fat, and carbohydrates.

-injury to, or destruction of, the anterior pituitary gland or hypothalamus; tumor, trauma, infection

-genetic syndrome, such as Prader–Willi syndrome or Turner syndrome, or the result of a genetic mutation or deletion

Goal = 3 to 5 in in linear growth in the first year of treatment Treatment stops when the epiphyseal growth plates fuse

-Development of sexual characteristics before the usual age of pubertal onset ->secondary sex characteristics develop in girls before the age of 8 years and in boys younger than 9 years

-more common in females, majority of the time the cause is unknown in females

-premature activation of the hypothalamic–pituitary–gonadal system

-Short stature if untreated ->premature closure of growth plates

-Must determine the cause; GnRH analog to halt or reverse growth and development

-delayed secondary sexual development

-Girls -if the breasts have not developed by age 12

-boys when no testicular enlargement or scrotal changes have occurred by age 14

-constitutional delay- most common cause, hereditary pattern of growth and development (or a “late bloomer”)

-Therapeutic management involves administering testosterone (males) or estradiol-conjugated estrogen; usually necessary for only a short time to get puberty started

HYPERNATREMIA

•Body produces high urinary output and does not retain water in the correct amount

-low levels Antidiuretic hormone (ADH) aka Vasopressin

-ADH is made in hypothalamus and stored in the kidney

-Damage to pituitary gland, tumor, head injury, illness

•Symptoms –

-Polyuria and polydipsia

-Kidney loses massive amounts of water and retains sodium in the serum

•Treatment

-replacement of ADH/vasopressin à Desmopressin (brand name -DDAVP); can be taken oral or nasal

-low sodium and low protein

-remove tumor if present

Too much ADH- HYPONATREMIA

-Causes water retention(low urinary output), decreased serum sodium due to hemodilution, and extracellular fluid volume expansion. 

-Caused by CNS infections such as meningitis, head trauma, brain tumors, intracranial surgery, and certain medications such as analgesics, barbiturates, or chemotherapy.

-May be caused by excessive treatment of DI

Therapeutic management -correcting the underlying disorder, fluid restriction, and intravenous sodium chloride administration to correct hyponatremia and increase serum osmolality

Rare in children

excessive T3,T4

TSH low

Treated with destruction of thyroid gland

Symptoms

-diarrhea

-bulging eyes

-tachycardia

-weight loss

-amenorrhea

-localized edema

-always hot

can be congenital or acquired

-Certain populations at risk (Downs, maternal hypothyroidism)

-Decreased thyroid hormones

Decreased T3, T4

TSH usually elevated

Lifelong thyroid supplementation

Symptoms

-lethargy

-dry skin

-constipation

- always cold

-facial edema

-brittle nails/hair

-weight gain

bradycardia

•Hashimoto

•antibodies develop against the thyroid gland, causing the gland to become inflamed, infiltrated, and progressively destroyed

•Management involves oral sodium L-thyroxine, Synthroid

Symptoms-

•goiter -enlargement of the thyroid gland

•Deep tendon reflexes may be sluggish and the face, eyes, and hands may be edematous

•thinning or coarse hair, muscle hypertrophy with muscle weakness, and signs of delayed or precocious puberty. 

•Diagnostic evaluation involves serum thyroid function studies 

•Hyperfunction of the thyroid gland, excessive levels of circulating thyroid hormones

•Uncommon in children, 5 times more in girls than boys

•increased rate of growth; weight loss despite an excellent appetite; hyperactivity

•Usually develop a goiter

•Congenital hyperthyroidism -neonatal thyrotoxicosis - occurs in infants of mothers with Graves disease- life threatening,  self-limiting disorder lasting 2 to 4 months

•Therapeutic management –decrease thyroid hormone levels. Current treatment involves antithyroid medication, radioactive iodine therapy, and subtotal thyroidectomy. First-line treatment involves methimazole (MTZ, Tapazole) - blocks the production of T3 and T4

Acute, life-threatening, hypermetabolic state severely elevated Thyroid Hormone

-Graves disease, neonatal graves, thyroid nodules

Symptoms:

•Sudden onset of severe restlessness and irritability

•Fever

•Diaphoresis

•Severe tachycardia

Treatment:

•antithyroid medications, potassium iodide, beta blockers, and steroids.

-adrenal glands don’t produce enough cortisol, adrenal gland enlarges to compensate

-Males=enlarged penis, puberty by 2-3; females = ambiguous genitalia(can't tell if boy or girl), fertility issues

-Treatment = hormone replacement, steroids

condition from high cortisol levels; caused by use of steroids or overproduction by adrenal glands

-red round face

-hunch back(buffalo hump)

-carry fat in stomach (bulging0

adrenal insufficiency – weakness, fatigue, fragile and thin skin

testosterone production by the ovaries and adrenal cells is excessive, causing hirsutism, balding, acne, increased muscle mass, and decreased breast size.

-A hormone made by the islet cells of the pancreas

-Controls the amount of sugar in the blood by moving it into the cells, where it can be used by the body for energy.

autoimmune disorder

-Destruction of beta cells of pancreas ->inadequate insulin secretion ->hyperglycemia

-Kidneys try to lower blood glucose ->glycosuria and polyuria

-Protein and fat are used for energy -> buildup of ketones and acidosis

Pancreas produces insulin but:

-Body is resistant to insulin or there is inadequate insulin produced

-Overtime, insulin production decreases

Body is using fat instead of glucose for energy)

-producing excess blood acids -ketones

-If unrecognized or not treated, DKA – fat catabolism develops

Symptoms:

-anorexia, nausea and vomiting, lethargy, stupor, altered level of consciousness, confusion, decreased skin turgor, abdominal pain, Kussmaul respirations (deep, rapid, labored) and air hunger, fruity (sweet-smelling) or acetone breath odor, presence of ketones in urine and blood, tachycardia, and, if left untreated,.

•blood glucose monitoring

•Hemoglobin A1C – shows blood glucose control over previous 3 months

• daily injections of insulin and/or administration of oral hypoglycemic medications

• a realistic and well-balanced diet

•an exercise program

•self-management and decision-making skills.

Rapid acting- 15 min

Short acting- 30 min-1hr

Intermediate acting- 2-4 hrs

Long acting- 2-4hrs

Damage to nerves and vessels d/t prolonged exposure to high blood glucose levels

•Failure to grow

•Delayed sexual maturation(erection)

•Poor wound healing

•Recurrent infections (especially of the skin)

•Retinopathy

•Neuropathy

•Vascular complications

•Nephropathy

•Cerebrovascular disease

•Peripheral vascular disease

•Cardiovascular disease

d. Glucose monitoring. Glucose monitoring is an intervention appropriate for managing diabetes.