Quiz 9: Newborn Lethargy

Front 1

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?

Back 1

Congenital hypothyroidism

Front 2

Congenital hypothyroidism

Back 2

• 6 weeks of age
• feeding problems
• large fontanels
• hypotonia
• large tongue
• coarse cry
• umbilical hernia
• neonatal screen

Front 3

Sepsis of infant

Back 3

• body temp change
• change in respiration
• increased/decreased heart rate
• reduced movement
• reduce feeding
• low blood sugar
• seizures
• jaundice

Front 4

congenital adrenal hyperplasia

Back 4

• abnormal genitalia (females)
• poor feeds
• vomiting
• dehydration
• electrolyte changes

Front 5

Shaken baby syndrome

Back 5

• significant head trauma
• subdural hemorrhage
• hypoxic/ischemic brain injury
• retinal hemorrhage

Front 6

Neonatal lupus

Back 6

• erythematous plaques
• telangiectasia
• atrophic lesions
• cardiac abnormalities
• conduction deficits
• hem disturbances in first 2 weeks of life

Front 7

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?

Back 7

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

Front 8

Treatment for acutely ill children with dehydration, hypoglycemia, and CAH?

Back 8

Glucose and electrolyte supplementation

Front 9

Treatment for CAH?

Back 9

Glucocorticoid and mineralcorticoid supplementation

Front 10

Treatment of sepsis?

Back 10

empiric antibiotics after collection of blood, urine, and CSF cultures

Front 11

A 6-week-old infant girl whose family recently immigrated from Mexico is brought to clinic for “excessive sleepiness.” The mother states the infant is not easily aroused for feedings and is not as active as she was previously. She is also concerned about her daughter's large “outtie" belly button. On exam, the patient is afebrile and jaundiced, with a puffy myxedematous face. The fontanels are large but flat. There is a large umbilical hernia. When asked about the results of a newborn screening exam, mom states that the screening was never performed. What would be an expected abnormal lab value(s) associated with her condition?

Back 11

• High TSH, low T4
  

Front 12

Suggestive of CAH? (electrolyte abnormality)

Back 12

low sodium

high potassium

Front 13

Glucose < 40 mg/dL

Back 13

hypoglycemia:

get STAT glucose levels and intervene with parenteral or oral glucose as indicated

r/o hyperinsulinism, increased metabolic demand, and inborn errors of metabolism

Front 14

Congenital hypothyroidism presentation and diagnosis?

Back 14

• poor feeds
  
• constipation
  
• jaundice
  
• mottled skin
  
• large fontanels
  
• hypotonia
  
• hypothermia
  
• umbilic hernia
  
• Get TSH (high), and T4 (low)
  

Front 15

A 45-day-old infant is brought in by his mother due to lethargy, constipation, and yellow skin color noted since birth. The mother and the baby moved to the U.S. from a foreign country that does not screen its newborns. The baby has been fed only formula since birth. Physical exam of the neonate reveals additional findings of large fontanelles, umbilical hernia, a large tongue, and abdominal distension. What is the next best step in diagnosis?

Back 15

TSH

Front 16

When do use phototherapy?

Back 16

treatment for physiological jaundice

Front 17

When to use exchange transfusion?

Back 17

hyperbilirubenemia approaching levels of concern for kernicterus

Front 18

When to do head US?

Back 18

If indication of hydrocephalus or concern for bleeds

Front 19

When to obtain a family history of jaundice to rule in or out a defect in bilirubin metabolism

Back 19

If only jaundice

Front 20

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?

Back 20

Absent deep tendon reflexes

Front 21

What might vesicular rash indicate?

Back 21

HSV infection (encephalitis)

Front 22

When might there be large tongue and umbilical hernia?

Back 22

congenital hypothyroidism

Front 23

When might there be III/IV systolic murmur?

Back 23

congenital heart disease, e.g. VSD

Front 24

When might there be cataracts and hepatosplenomegaly?

Back 24

inborn error of metabolism

Front 25

When might absent deep tendon reflexes present?

Back 25

Botulism

Usually presents in first year of life with:

• hypotonia
• lethargy
• constipation
• weak cry
• eventually respiratory failure

Front 26

You are called down to the nursery to evaluate a newborn girl who is ready to be discharged. The mom is concerned because this 3-day-old has become lethargic and doesn’t want to feed. She has vomited twice and is showing no interest in feeding. On physical exam you note a lethargic infant with an enlarged liver and worry about an inborn error of metabolism. Which test would be diagnostic for an ornithine transcarbamylase (OTC) deficiency?

Back 26

Hyperammonemia and elevated urine orotic acid

Front 27

OTC deficiency

Back 27

Test: Hyperammonemia and elevated urine orotic acid

X link condition

Front 28

Elevated TSH

Back 28

congenital hypothyroidism

Front 29

Elevated 17-OH progesterone?

Back 29

congenital adrenal hyperplasia

(also, virilization of female infant)

Front 30

Hyponatremia?

Back 30

Can be present in infants with CAH