9: 2-week-old female with lethargy

Question 1

Assessing Adequacy of Feeds

Answer 1

• if the infant is gaining weight well, the feedings must be adequate.
• Since breast milk is predominantly water, UOP is another good way to assess the infant’s feedings: A newborn is expected to have 3-5 voids and 3-4 stools per day by 3-5 days of age; and 4-6 voids and 3-6 stools by 5-7 days of age.
• hx also offers important clues, and feeding every 2-3 hours for 10-15 min per breast is about avg. If there are >4h between feedings, or the infant is feeding for shorter durations, then intake is unlikely to be adequate.

Question 2

Lethargy

Answer 2

a level of consciousness characterized by the failure of a child to recognize parents or to interact with persons or objects in the environment. The child demonstrates significant sluggishness. The younger the child, the more difficult it is to assess lethargy.

Question 3

listless child

Answer 3

shows no interest in what is happening around herself.

Question 4

toxic condition

Answer 4

appearance of pending physiologic collapse such as may be seen in sepsis, poisoning, acute metabolic crises, or shock. The child may be febrile, pale or cyanotic, with depressed mental awareness or extremely irritable and may demonstrate tachycardia, tachypnea and prolonged capillary refill.

Question 5

distressed child

Answer 5

appearance of working hard to maintain physiologic stability such as grunting, rapid breathing in order to maintain adequate oxygenation and ventilation.

Question 6

Abnormal Fontanel Size: Associated condition/disorder

Answer 6

• Skeletal disorders (e.g., rickets, osteogenesis imperfecta)
• Chromosomal abnormalities (e.g., Down syndrome) Hypothyroidism
• Malnutrition
• Increased intracranial pressure can also result in large fontanels and splitting of the sutures.

Question 7

Abnormal Fontanel Size: Associated condition/disorder <small></small>

Answer 7

• Microcephaly
• Craniosynostosis
• Hyperthyroidism
• A normal variant

Question 8

Abnormal Fontanel Size: Associated condition/disorder

Answer 8

sign of dehydration

Question 9

Abnormal Fontanel Size: Associated condition/disorder

Answer 9

• Meningitis
• Hydrocephalus
• Subdural hematoma
• Lead poisoning

Question 10

Congenital Adrenal Hyperplasia

Answer 10

• -Plasma 17-OH progesterone is elevated with 21-OH deficiency because its production occurs prior to the block in the pathway of adrenal steroid formation.
• -The increased 17-OH progesterone with CAH is diverted to androgen formation.
• -Thus, female patients with 21-OH deficiency are virilized.
• -Male pts w/ 21-OH deficiency may be harder to detect (virilization presents as inc penile length and darker pigmentation of the scrotum).

Question 11

most common form of congenital adrenal hyperplasia

Answer 11

#21-OH deficiency, causes dec production of cortisol and aldosterone
#Dec mineralocorticoid activity in 21-OH deficiency (the salt-wasting form) leads to hyponatremia and hyperkalemia, and may present with vomiting, dehydration, and shock in a newborn.

Question 12

Congenital hypothyroidism: Etiology

Answer 12

• In the U.S., the m/c c/o congenital hypothyroidism (CH) is some form of thyroid dysgenesis:
• –Aplasia
• –Hypoplasia, or
• –An ectopic gland (accounts for two thirds of thyroid dysgenesis).
• In mothers with ai thyroiditis, transplacental passage of thyrotropin-receptor-blocking Ab is assoc w/ transient hypothyroidism.
• Infants born to mothers with Grave’s disease treated with antithyroid drugs may also have transient hypothyroidism.
• Worldwide, iodine deficiency is the m/c c/o hypothyroidism at birth.

Question 13

Congenital hypothyroidism: Epidemiology

Answer 13

• In the U.S., the incidence of CH is approximately 1:4000 live births (range 1:3600-1:5000)
• CH is more prevalent in the Hispanic population (1 in 2,700) and NA (1 in 700).

Question 14

Congenital hypothyroidism: Primary vs. Secondary Hypothyroidism

Answer 14

• Primary hypothyroidism causes > 95% of all cases of CH.
• –In primary hypothyroidism, the hypothalamic-pituitary axis is functioning and thus the TSH is elevated.
• Abnormalities at the level of the pituitary or hypothalamus (secondary or tertiary hypothyroidism) represent < 4% of the cases of CH.
• –These abnormalities result in a low TSH and a low T4.

Question 15

Congenital hypothyroidism: Presentation

Answer 15

• Most infants with CH appear normal at birth because the hypothyroid fetus is partially protected by maternal thyroid hormone. It may be several months before infants with CH show the classic signs of hypothyroidism. Early features include:
• –Feeding problems
• –Decreased activity
• –Constipation
• –Prolonged jaundice
• –Skin mottling
• –Umbilical hernia
• With time, if untreated, patients develop a large tongue, hoarse cry and puffy myxedematous facies.
• CH is one of the m/c preventable causes of intellectual disability. The longer tx is delayed, the greater the risk.

Question 16

Congenital hypothyroidism: Newborn Screening

Answer 16

Early detection and treatment of CH can completely reverse the effects of fetal hypothyroidism in all but the most severe cases.

Question 17

Congenital hypothyroidism: Diagnosis and Treatment

Answer 17

• -Newborns with a low T4 and elevated TSH on the newborn screen are considered to have CH until proven otherwise.
• -B/c early tx is critical for nml development, the pt should be started on levo (L-thyroxine) while waiting for confirmatory measurement of serum T4 and TSH.

Question 18

Children with PKU who do not receive treatment

Answer 18

nml at birth, but then fail to attain early developmental milestones and develop microcephaly and progressive cognitive impairment, including seizures.

Question 19

The newborn screening system consists of 5 parts:

Answer 19

1. Newborn testing
2. F/u of abnml screening results to facilitate timely diagnostic testing and management
3. Diagnostic testing
4. Dz management, which requires coordination w/ the medical home and genetic counseling
5. Continuous evaluation and improvement of the newborn screening system

Question 20

Screening Followup

Answer 20

• MSUD
• CAH
• galactosemia are three disorders that can be rapidly fatal unless treatment is instituted quickly.
• Early detection of sickle cell disease is important because early institution of penicillin prophylaxis can prevent sepsis secondary to infection with S. pneumo.

Question 21

The following are important to inquire about or observe at the first outpatient visit.

Answer 21

• Pregnancy hx (maternal age, gravida, para; infection screens; medications; pregnancy complications)
• Birth hx (gestational age; birth weight; size for gestational age: vaginal delivery vs C-section; pre and postnatal health problems; location of birth; status of hearing, critical congenital heart defect and newborn metabolic screening tests; and Hepatitis B vaccine date.)
• Feeding hx (breast or formula; amount and frequency of feeds)
• Parent questions/concerns

Question 22

The following are routinely administered or tested in the first hours or days following delivery.

Answer 22

• Hepatitis B vaccine
• Vit K
• Erythromycin eye ointment
• critical congenital heart dz screen
• hearing screen
• NBN metabolic screening

Question 23

Differential Diagnosis for a Neonate with Poor Feeding and Decreased Activity: congenital hypothyroidism

Answer 23

common findings include:

• Feeding problems
• Decreased activity
• Constipation
• Prolonged jaundice
• Skin mottling
• Umbilical hernia

Question 24

Differential Diagnosis for a Neonate with Poor Feeding and Decreased Activity: Shaken baby syndrome

Answer 24

RF:

• Young/single parents
• Significant stressors at home (finances, living situation, etc.)
• Lower education level
• A h/o seizures or irritability would inc the suspicion for this diagnosis.

Question 25

Differential Diagnosis for a Neonate with Poor Feeding and Decreased Activity: Down syndrome

Answer 25

• Down syndrome patients may feed poorly because of hypotonia.
• Typically the ROS would be otherwise normal.

Question 26

Differential Diagnosis for a Neonate with Poor Feeding and Decreased Activity: Sepsis

Answer 26

Signs of sepsis include poor feeding and decreased activity, among others.

Question 27

Differential Diagnosis for a Neonate with Poor Feeding and Decreased Activity: CAH

Answer 27

• -Decreased feeding and activity are common in infants with CAH.
• -Salt-losing CAH presents with lethargy, vomiting, and dehydration that can progress to shock.

Question 28

Differential Diagnosis for a Neonate with Poor Feeding and Decreased Activity: Inborn error of metabolism

Answer 28

• -Typically, newborns appear well for at least the first 1-2 days of life but then become symptomatic due to the protein load in breast milk or formula.
• -Initial signs include somnolence and poor feeding, usually followed by vomiting and lethargy.
• -sans tx, pts develop a progressive encephalopathy.

Question 29

Differential Diagnosis for a Neonate with Poor Feeding and Decreased Activity: Botulism

Answer 29

• -Infants with botulism present with a poor suck and weak cry.
• -This is a rare diagnosis (about 900 cases reported worldwide!) and usually presents a little later (median onset 3-4 mo).

Question 30

Differential Diagnosis for a Neonate with Poor Feeding and Decreased Activity: Hypoxic-ischemic encephalopathy

Answer 30

• AMS can be seen with hypoxic-ischemic encephalopathy, but would typically appear shortly after birth.
• Infants with this d/o often have low APGAR scores.
• Often there is evidence of multi-system dysfunction (poor cardiac contractility, perfusion, renal insufficiency, seizures) early in the neonatal course.

Question 31

Differential Diagnosis for a Neonate with Poor Feeding and Decreased Activity: Polycythemia

Answer 31

• This occurs when the hematocrit is above the normal limit for gestational age (usually defined as > 65% in a term newborn).
• –Many infants are asymptomatic, and hematocrits are not routinely checked in newborns.
• –If infants do have symptoms, altered mental status and poor feeding may occur.
• –Other associated s/s include plethora (an excess of blood in the circulatory system or in one organ or area), acrocyanosis, or hyperbilirubinemia.
• –Occurs in the first few hours to days of life.

Question 32

Differential Diagnosis for a Neonate with Poor Feeding and Decreased Activity: Hyperbilirubinemia

Answer 32

• -An elevated bilirubin level usually does not cause symptoms by itself.
• -The symptoms would be related to the underlying cause of the jaundice.

Question 33

A two-month-old female presents to clinic for a well-baby checkup. Mom has been happy because the “baby rarely cries and sleeps all the time.” On exam, the baby has yellowing of the skin, decreased activity, appears to have decreased tone, and a large anterior fontanel. What is the most likely diagnosis?

Answer 33

Congenital hypothyroidism may not be clinically evident until 6 weeks of age due to circulating maternal thyroid hormone transmitted from the placenta. Signs and symptoms of congenital hypothyroidism include feeding problems, large fontanels, hypotonia, large tongue, coarse cry, and frequently an umbilical hernia. Congenital hypothyroidism should be picked up on routine neonatal screening.

Question 34

Jade is a 2-week-old female who was born at home and received no newborn screenings for congenital disease. Her mother brought her to the pediatrician’s office concerned that her daughter appeared to be jaundiced and was constipated, tired, and not feeding well most of the time. Physical exam was notable for enlarged fontanels, jaundice without bruising, hypotonia without tremor or clonus, and an umbilical hernia. There was no sign of virilization, no abnormal facies, and no history of vomiting. Review of systems was otherwise negative except as stated above. Which of the following is the most important next step in Jade’s management?

Answer 34

Consult with pediatric endocrinologist and start treatment with 10 to 15 mcg/kg/day of crushed levothyroxine in liquid, and follow up every 12 months

Question 35

The parents of 5-month-old Tiffany are concerned about Tiffany’s decreasing oral intake over the past 4 days. They report that she has been sleeping more but seems to tire out when feeding; in fact, mom’s breasts have become quite engorged and she needs to pump to relieve the pressure. In addition to the sleepiness and poor feeding they report that she has not had a bowel movement in 3 days. She has no fever or respiratory symptoms. You note a weak cry on your exam, and a floppy baby when you try to sit her up. What additional finding are you likely to find on your exam?

Answer 35

usually presents in the first year of life with hypotonia, lethargy, constipation, weak cry and can eventually lead to respiratory failure. These infants will have absent DTRs.