Missed Pediatric Qs

1. Neonatal respiratory distress syndrome causes hyaline membranes to form around the alveolar sacs secondary to leakage of proteins and cellular debris.
1. The pathogenesis involves lack of surfactant secretion and subsequent alveolar collapse (atelectasis).
2. The histology shows hyaline membranes surrounding the alveolar sacs. These membranes are made of protein and cellular debris that leaked out of blood vessels.
3. Type II pneumocytes secrete surfactant and they are immature
2. Meningococcal meningitis typically presents with high fever and petechial rash in pediatric patients.
1. You should suspect Neisseria meningitidis to be the causative agent in children who present with high fever and petechial rash. This characteristic rash is present in over 70% of pediatric presentations and is commonly found on the trunk, legs, mucous membranes, and conjunctiva.
2. Listeria monocytogenes is a common cause of meningitis in the newborn because of its potential to be transmitted vaginally but does not present with petechial rash.
3. Meningitis secondary to infection with Haemophilus influenza meningitis has been nearly eradicated in the United States since the initiation of the Hib vaccine and is not a likely agent based on the above presentation.
4. Group B strep (Streptococcus agalactiae) is the most common cause of meningitis in newborns and is typically contracted in the birth canal. This is an unlikely organism in a 16-month-old child.
5. Cytomegalovirus typically presents with fevers, malaise, pharyngitis, and splenomegaly which are symptoms consistent with infectious mononucleosis.
3. Colon biopsy is the definitive diagnostic test in Hirschsprung disease and is taken just distal to the expanded segment (megacolon).
1. Hirschsprung disease is defined by congenital aganglionosis of the distal bowel. Both the myenteric (Auerbach) plexus and the submucosal (Meissner) plexus are absent, resulting in reduced bowel peristalsis and function.
2. The area missing ganglion cells is just distal to the megacolon section, which has expanded due to feces that cannot be pushed passed the affected segment.
4. The treatment of choice for RSV infection in otherwise healthy children is supportive care
1. Asthma is more common > 2 years old and is more commonly associated with allergies.
5. Tracheoesophageal fistula: Tracheoesophageal fistula (TEF) is a congenital or acquired communication between the trachea and esophagus, often leading to severe or even fatal pulmonary complications. Most of the time, diagnosis is made immediately following birth or during infancy. The typical presentation includes excessive oral secretions, inability to feed, respiratory distress and gagging with meals. Esophageal atresia with distal TEF accounts for the majority of cases (80%).

Meckel’s diverticulum: Meckel’s diverticulum is the most common malformation of the intestinal tract, occurring in up to 2% of the population. The single most common presenting symptom is painless rectal bleeding in the form of melena, followed by intestinal obstruction from volvulus or intussusception. Occasionally the patient may suffer from painful diverticulitis mimicking appendicitis. Meckel's diverticulum is located in the distal ileum, usually within about 60-100 cm of the ileocecal valve. Remember the rule of 2’s when making the diagnosis: 2% (of the population), 2 feet (from the ileocecal valve), 2 inches (in length), 2% are symptomatic, 2 types of common ectopic tissue (gastric and pancreatic), age 2 the most common age of presentation, and males are 2

times as likely to be affected than females.

Duodenal atresia: Duodenal atresia refers to the congenital absence or complete closure of a portion of the duodenal lumen. The most common presentation is bilious emesis, which begins several hours following the initial post-delivery feeding. Radiographic evidence is of this condition is characterized by the finding known as the “double bubble” sign on abdominal radiography. This occurs due to the presence of gaseous distention in the gastric and duodenal portions of the GI tract. Duodenal atresia results from failure of the duodenal lumen to recanalize during the 8th to 10th weeks of gestation. Polyhydramnios occurs in approximately half of all cases due to impaired a

bsorption of amniotic fluid by the fetal intestines. Malrotation of the intestines and congential heart disease are also frequently present.

Omphalocele: An omphalocele is a type of abdominal wall defect that occurs when the abdominal viscera herniates through the umbilicus into a sac covered by peritoneal tissue and amniotic membrane. Diagnosis is most commonly made by prenatal ultrasound although diagnosis can also be achieved through AFP screening. Polyhydramnios is often noted in utero. Also of importance is that one in ten patients diagnosed with omphalocele with also have Beckwith-Wiedemann syndrome, a condition characterized by exopthalmos, macroglossia, gigantism, hyperinsulinemia and hypoglycemia. Don’t confuse the diagnosis of omphalocele with gastroschisis, a similar

birth defect, but one that does not involve the umbilical cord, and is not enclosed in a membranous sac.

Gastroschisis: Gastroschisis is a congenital abnormality involving the GI tract characterized by the evisceration of intestine through the abdominal wall, just lateral to the umbilicus. Unlike an omphalocele, the mass is edematous, dark in color, and typically appears to be covered by a gelatinous matrix of greenish material. There is no involvement of the umbilical cord.

6. When the areola and papilla form a secondary mound on the breast a female adolescent is considered stage 4 according to breast development. Pubic hair that is adult in quality but is limited to the pubic area, sparing the thighs is also considered stage 4.
1. The mean average age for a female adolescent to be in Tanner stage 4 is 13 years
2. Tanner stage 5 is considered sexually mature with projection of the papilla above the areola and breast mound and adult quality pubic hair that can also be found on the inner thighs.
7. Continuous positive-pressure ventilation (CPAP) with end-expiratory positive pressure, in addition to surfactant replacement therapy, has been linked to a reduced mortality in premature neonates suffering from RDS.
1. IV replacement therapy is also helpful in treatment of this condition but has not been linked to a reduction in mortality.
2. Although intubation may be warranted in some patients, it is not always necessary and should be reserved for neonates unable to tolerate CPAP.
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9. Immunodeficiencies:
1. Bruton’s agammaglobulinemia is an X-linked disease (thus affects mostly boys) characterized by a profound deficiency in B-cells. B-cell deficiency increases the risk for severe bacterial infections especially from encapsulated organisms such as Streptococcus pneumonia. It usually doesn’t manifest until after 6-months of age when infants lose the passive immunity from their mother.
2. DiGeorge syndrome is characterized by lack of a thymus thus a lack of mature T-cells. T-cell deficiency increases the risk for viral, fungal and intracellular bacterial infections. Tetany is a common presentation due to hypocalcemia from lack of parathyroid glands.
3. Chronic granulomatous disease is characterized by a deficiency in NADPH oxidase. Patients have an increased risk for infection with catalase positive organisms such as Staphylococcus and Aspergillus. The diagnosis is confirmed when there is a lack of respiratory burst phase measured by the nitroblue tetrazolium test.
4. C1 esterase deficiency is characterized by recurrent, life-threatening angioedema. It usually presents in late childhood or adolescence. Episodes are provoked by stress, infection and trauma.
5. Chediak-Higashi syndrome is characterized by a defect in neutrophil chemotaxis. It is associated with albinism and neutrophils with giant cytoplasmic granules.
10. Imperforate hymen presents in neonates as a bulging yellow-gray mass at the level of the vaginal introitus and can lead to urinary obstruction. Recall that imperforate hymen is also a cause of primary amenorrhea with cyclic pelvic pain.
1. Pelvic ultrasonography is the study of choice in patients suffering from imperforate hymen.
2. Sarcoma botryoides (B) is a type of interlabial mass and the most common malignant tumor of the lower genitourinary tract in infant females. Vaginal bleeding and the characteristic appearance of a firm grapelike vaginal mass protruding through the introitus are common findings.
3. Direct needle aspiration is useful in the presence of a periurethral cyst
4. Computed tomography is sometimes warranted in cases of sarcoma botryoides.
11. Friedreich’s ataxia is a progressive degenerative disease affecting the dorsal columns and spinocerebellar tracts. It is highly associated with cardiomyopathies.
1. Scoliosis and high plantar arches are common findings.
2. More than 90% of these patients have an associated heart condition, the most common of which is cardiomyopathy.
3. The inheritance is autosomal recessive and in most cases the mutated gene contains GAA repeats
12. Human breast milk should always be recommended to parents over cow's milk. Human milk contains significantly higher levels of vitamin C (approximately 4 times) and carries the appropriate amount of nutrients needed for normal infant development. The only vitamin that is recommended for supplementation in breastfed infants is vitamin D. In addition, infants gain a significant amount of passive immunity from the antibodies in breast milk.
13. Adequate intake levels (AIs) for calcium are:

Age 1-3, AIs 500mg/day

Age 4-8, AIs 800mg/day

Age 9-18, AIs 1300mg/day

Age 19-50, AIs 1000mg/day

Age 51+, AIs 1200mg/day

14. The murmur of a VSD is a harsh pansystolic murmur at the left lower sternal border. An ASD, VSD, or PDA can progress to Eisenmenger’s syndrome.
1. Eisenmenger’s syndrome occurs when a long standing left-to-right shunt reverses and becomes a right-to-left shunt, thus bypassing the lungs and providing the organs with un-oxygenated blood. A congenital cardiac right-to-left shunt would have caused the patient to become cyanotic at a much earlier age
15. Biliary atresia is the most common congenital biliary anomaly. Typical symptoms include variable degrees of jaundice, dark urine, and light stools. In the most cases of biliary atresia, infants are typically full-term, although a higher incidence of low birthweight may be observed. In the majority of cases, acholic stools are not noted at birth but develop over the first few weeks of life. Appetite, growth, and weight gain, however, may be normal.
16. A large renal mass in a 3-year-old patient is most likely Wilms tumor. It is caused by a deletion in chromosome 11. Beckwith-Weidemann syndrome is Wilms tumor in association with organomegaly, macroglossia and neonatal hypoglycemia (due to excess insulin production). The cells of origin for Wilms tumor are mesodermal.
1. Elevated catecholamines is associated with a neuroblastoma which also presents as an abdominal mass in a 2-4-year-old patient. These tumors are normally found in the adrenal medulla, not the kidney Neural crest cells are the origin for neuroblastoma
17. Jaundice:
1. Physiological jaundice starts on the second to third day after birth and usually self-resolves by the end of the week (it may last two weeks in pre-mature infants). It is caused by immaturity of the conjugating enzymes. If the bilirubin rises above 15mg/dL phototherapy may be indicated to prevent kernicterus.
2. Biliary atresia is the most common cause of elevated conjugated bilirubin (direct fraction) in the neonate. Obstructive signs like dark urine and clay-colored stool are suggestive.
3. Kernicterus is an irreversible, potentially fatal complication of elevated indirect (unconjugated) bilirubin. The unconjugated fraction passes the blood-brain barrier and deposits in the basal ganglia. Symptoms include hypertonia, seizures, poor feeding and high-pitched cry.
4. ABO incompatibility causes hemolysis which leads to elevated indirect bilirubin and jaundice. Jaundice usually appears early and is confirmed by a positive Coombs test.
5. Hypothyroidism can also present with jaundice. Other findings include hypotonia, protruding tongue, lethargy and delayed closure of the fontanelles.
18. This patient has delayed puberty, which is defined as no breast development in girls aged 14 and no testicular enlargement in boys aged 14. After a careful history and physical exam, Tanner staging, and growth chart evaluation, the next step is to X-ray the patient’s left wrist to compare her bone age with her chronological age. Tanner stage 1 (pre-pubertal) is not normal for a 15 year-old girl
1. Checking serum TSH, growth hormone and hormone levels, FSH, LH and estradiol, should be attempted next if X-rays of the wrist are not revealing.
19. Cyclophosphamide is an anticancer alkylating agent contraindicated in pregnancy and breast-feeding because it interferes with fetal and infant growth.
1. It is recommended to continue breast-feeding in women with mastitis because it prevents milk stasis. The bacteria cannot survive in the infants GI tract thus it poses no risk.
2. Active, untreated tuberculosis is a contraindication to breast-feeding, not a positive PPD.
3. Breast cancer itself is not a contraindication but the anti-cancer drugs used to treat it could be.
4. Babies born to mothers with active hepatitis B must receive the vaccine and immunoglobin therapy but breast-feeding is not contraindicated.