10 Pediatric diseases

Define congenital anomalies

Morphological defects present at birth. Most common cause of mortality in the first year of life

What is the most common cause of mortality in the first year of life?

Congenital anomalies

Define malformations

Primary errors of morphogenesis (structural defect) in which there is an intrinsically abnormal embryonic or fetal developmental process. -usually associated multifactorial causes

When do malformations/intrinsic disruptions start happening?

Embryonic period (week 3-8)

Three examples of malformations from lecture

Cleft lipPolydactylySyndactyl (fused fingers)

Three categories of causes of congenital anomalies

1. geneti2. environmental3. multifactorial

Explain thalidomide

Environmental example: thalidomine--used for naseua, but defects of the limbs in children

Symptoms of rubella infection

cataractsheart defectsdeafnessmental retardationblueberry rashmicrocephaly

What is CMV?

Cytomegalovirus--the most common fetal viral infection

What are the symptoms of CMV

mental retardationseizurespetechial rash blue berry rashmicrocephalydeafness

What is the most common fetal infection?

CMV=cytomegalovirus

Prematurity is born at gestation age of less than ___________ and weight less than_________.

37 weeks, 2500 grams

What is the second most common cause of neonatal mortality?

Prematurity (primary=congenital anomalies)

Major risk factors of prematurity

-premature rupture of placenta membranes (PPROM)-intrauterine inection-uterine, cervial, and placental structural abnomalities (space competition)-multiple gestation

Prematurity is associated with immaturity of the lungs, with dypsnea, and fine rales called ______.

RDS: respiratory distress syndrome

Infants delivered by ________________ are at higher risk of RDS

cesearan section

In RDS, there is often a maternal history of ______________ leading to elevated _________.

diabetes, fetal insulin--baby will produce insulin to counteract elevated glucose, but this inhibits steroids which are needed for proper lung development

RDS results in the deposition of a ________________________ in the alveolar spaces (hyaline membranes)

protein/fibrin rich exudate

What is the treatment for RDS?

maternal steroids before birth, artificial surfactant for infant

Babies with RDS will be treated with high pressure oxygen which can actually lead to

bronchopulmonary dysplasia---alveoli break

Explain ROP

Retinopathy of prematurity....when eye feels its lacking oxygen, looks for oxygen and nutrients, increased angiogenesis for nutrients =increased vessels

What is NEC?

Necrotizing enterocollitic----characterized by variable damage to the intestinal tract, ranging from mucosal injury to full-thickness necrosis and perforation

Incidence of NEC is inversely proportional to _____________.

gestational age... the younger the baby, the higher risk of NEC

What is the clinical presentation of NEC?

abdominal distention, absent bowel soundsBloody stoolsPossible perforation

What is the treatment for NEC?

ischemic bowel is necrotic and surgery to remove is the best option

What is germinal matrix hemorrhage?

Early on the brain is so soft and delicate that we call it germinal matrix. Any movement can cause damage--can break easy. S bleeding in the brain.

What is SIDS?

Sudden Infant Death Syndrome -- uknown cause in children under the age of 1.

__________ are the most common causes of sudden "unexpected"death, followed by an unsuspected __________. SIDS is considered a ___________ condition that reflects a delayed development of arousal and cardiorespiratorycontrol.

infections, congenital anomaly, multifactorial

What are the causes of fetal hydrops?

-Cardiovascular (malformations, tachyarrhthmia, high output failure)-Chromsomal-Tumors-Metabolic disorders-Twin gestation-infection-fetal anemia

What are the three chromosomal causes of fetal hydrops?

Turner syndrome (neck)Trisomy 21 (down syndrome)Trisomy 18 (edwards syndrome)

What word describes billirubin in the blood?

kernicterus

What are the benign tumors discussed?

HemangiomaLymphangiomaTetratoma

What is the most common tumor of infancy?

Hemangioma

Describe the capillary type of hemangioma

Capillary type: occurs in the skin, subcutaneous tissue,mucous membranes of the oralcavity and lips, liver, spleenand kidneys. Many instancesthey spontaneously regress.

What is a cavernous hemangioma?

• Cavernous hemangiomas areless well circumscribed and morefrequently involve deep structures.• They may be locally destructiveand show no spontaneoustendency to regress, so surgerymay be required.

Cavernous hemangioma is a component of _______ disease.

von Hippel Lindau disease

What are lymphangiomas?

Benign lympohatic tumors characteriztied by cyctis and cavernous spaces

Cavernous lymphangiomas (cystic hygromas), typicallyfound in the neck (seenassociated with _________) or axilla of childrenand rarely occur in theretroperitoneum.

Turner SYndrome

What is a tetratoma

a tumor composed of tissues not normally present at the site (the site being typically in the gonads).

What are the classes of teratoma

Mature (benign)Immature (indeterminant potential)Malignant (germ cell tumor)

What is the most common teratoma of childhood

Sacroccygeal teratoma -75% mature

What is a neuroblastoma?

Most common tumor of the adrenal medulla in children

Three ways to classify Neuroblastic Tumors

1. Neuroblastoma (primitive stroma)2. Ganglioneuroblastoma (primitive stroma and ganglion ells)3. Ganglioneuroma (schawnnian stroma and ganglion cells)

The prognosis of neuroblastoma---younger than ________ of and stage lss than _____ has best prognosis

18 months of age, 2B

______ ampliciation in the neoplastic cells are HIGh risk for neuroblastoma

N-myc

If you lacked _______, 93 % survived, if you have _______, 10% survived.

N-MYC

What is the most common primary intraocular malignancy of children?

Retinoblastoma

What is the mosjt common primary renal tumor of childhood?

Wilms Tumor--huge, palpable mass

What causes Wilm's tumor?

Deletion of tumor suppressor gene WTF1 on chormosome 11.