Peds 9 Flashcards
Normal # of voids and stools for newborn?
A newborn is expected to have:
3-5 voids and 3-4 stools per day by 3-5 days of age
4-6 voids and 3-6 stools by 5-7 days of age.
Average breastfeeding time?
Every 2-3 hours for 10-15 minutes per breast
Olivia is a non-dysmorphic 2-week-old female presenting with decreased activity and poor feeding. Physical exam is notable for weight still below birthweight, a slightly low temperature, otherwise normal vital signs, enlarged fontanelles, mild hypotonia, jaundice, and an umbilical hernia. She was born post-term AGA at home and had no newborn screen.
What are top 3 differentials? What labs do you send?
Congenital hypothyroidism, congenital adrenal hyperplasia, inborn error of metabolism
Labs: newborn screen, ammonia, glucose, K, Na, T4/TSH, total/direct bilirubin
What are the expected thyroid labs for congenital hypothyroidism?
T4 low, TSH high
Management for suspected congenital hypothyroidism?
- Levothyroxine (L-thyroxine)
- Order confirmatory T4/TSH labs
- Consult endocrinologist
Treatment for positive phenylketonuria (PKU) on newborn screen?
Diet modification - diet should be low in phenylalanine (ie. phenylalanine-free formula)
A two-month-old infant is brought to clinic by her mother for a well-baby checkup. Mom says that her daughter is easy to care for because “she rarely cries and sleeps most of the time.” On exam, the patient has a yellow tint to the skin, decreased muscle tone, and a large anterior fontanel. What is the most likely diagnosis in this patient?
A. Abusive head trauma B. Congenital adrenal hyperplasia C. Congenital hypothyroidism D. Neonatal lupus E. Sepsis
C. Congenital hypothyroidism
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 fontanelles, hypotonia, large tongue, coarse cry, hyperbilirubinemia, and umbilical hernia. Congenital hypothyroidism should be identified on routine neonatal screening.
A 2-week-old infant is brought by her mother to the clinic because of concerns for jaundice, constipation, sleepiness, and poor feeding. She has not had any vomiting. The patient was born at home and received no medications or lab studies. Physical exam reveals enlarged anterior fontanelle, jaundice, hypotonia, and an umbilical hernia. The remainder of the examination is normal. While obtaining confirmation of the diagnosis, which of the following is the most appropriate pharmacotherapy in this patient?
A. Consult with pediatric endocrinologist and start treatment with 10 to 15 mcg/kg/day of crushed levothyroxine in liquid, and follow up labs in 2 weeks
B. Empiric antibiotics after collection of blood, urine, and CSF cultures
C. Glucose and electrolyte supplementation
D. Glucocorticoid and mineralocorticoid supplementation
E. No treatment needed
A. Consult with pediatric endocrinologist and start treatment with 10 to 15 mcg/kg/day of crushed levothyroxine in liquid, and follow up labs in 2 weeks
A 6-week-old infant is brought by her parents to the clinic for increased sleepiness for the past 2 weeks. The patient is not easily aroused for feedings and is not as alert as she was previously. The infant was born abroad and the family recently immigrated to the United States. Neonatal screening was not performed. Vital signs are normal. Physical exam reveals jaundice, an enlarged fontanelle and an umbilical hernia. Which of the following laboratory abnormalities would most likely in this patient?
A. Glucose < 40 mg/dL
B. High TSH, low T4
C. High WBC with bandemia
D. Low sodium, high potassium
B. High TSH, low T4
Congenital hypothyroidism may present with poor feeding, constipation, jaundice (longer and more persistent than physiologic jaundice of newborn), mottled skin, large fontanelles, hypotonia, hypothermia and an umbilical hernia. Later findings include a hoarse cry, macroglossia, and myxedematous facies. Patients usually remain asymptomatic until 6 weeks of age, as maternal thyroid hormones may still circulate in younger infants. Patients with primary hypothyroidism will have high TSH and low T4 levels. The most common cause of primary hypothyroidism is aplasia or hypoplasia of the thyroid gland, and - less commonly - dyshormonogenesis. Secondary or tertiary hypothyroidism (HPA dysfunction) will have both low or inappropriately normal TSH and low T4, and are relatively rare causes of hypothyroidism in infants.
A 6-week-old infant is brought to the emergency room by his mother due to sleepiness, constipation, and yellow skin for the past 3 weeks. The mother and the baby recently immigrated to the United States. No medical records from the delivery are available. The infant has been breast-fed since birth. Vital signs are normal. Physical examination reveals jaundice, large anterior and posterior fontanelles, a large tongue, and abdominal distension. Which of the following is the most appropriate next step in management of this patient?
A. Exchange transfusion
B. Head ultrasound
C. Phototherapy
D. Thyroid function studies
D. Thyroid function studies
A 5-month-old is brought by her parents to the clinic because of decreasing oral intake over the past 4 days. The patient has been sleeping more than previously and seems to tire out when feeding. The patient breastfeeds and eats homemade pureed vegetables. The patient has not had a bowel movement in three days. She has no fever or respiratory symptoms. Physical examination reveals a weak cry and decreased strength. What additional physical examination findings would be expected with this patient’s presumptive diagnosis?
A. III/VI systolic murmur B. Absent deep tendon reflexes C. Cataracts and hepatosplenomegaly D. Large tongue and umbilical hernia E. Vesicular rash on her scalp
B. Absent deep tendon reflexes
This infant likely has infant botulism which 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.
A 3-day-old infant is evaluated in the nursery for poor feeding since birth. The infant takes 1 ounce of formula every 4 hours. Each feed takes about 40 minutes because the patient falls asleep during the feed. The patient has vomited twice today and stooled once yesterday. Physical exam reveals a lethargic infant who is difficult to arouse by exam. The liver is enlarged and muscle tone is decreased. Serum ammonia level is elevated. Which of the following laboratory results would be expected in this patient?
A. Elevated 17-OH progesterone B. Elevated thyroid stimulating hormone C. Elevated urine orotic acid D. Hyponatremia E. Polycythemia
C. Elevated urine orotic acid
Elevated urine orotic acid is diagnostic of OTC (omithine transcarbamylase) deficiency. This is the most common urea cycle disorder and is an x-linked condition. This diagnosis is most likely based on the enlarged liver, mental status changes, and hyperammonemia.
A mother brings her 20-day-old male infant to your clinic for the child’s first visit. You learn that the infant was born at home to a 28-year-old G1P1, and the infant has not yet received newborn screening. During your history, you learn that the infant has been vomiting 2 to 3 times per day, and the mother reports that her son seems fussier than her friends’ infants. On exam, you note an eczematous rash and a musty odor to the infant’s skin and urine. Which enzyme deficiency would you expect the infant to display?
A. Alpha-L-iduronidase B. Cystathionine synthase C. Glucose-6-phosphatase D. Phenylalanine hydroxylase E. Sphingomyelinase
D. Phenylalanine hydroxylase
This infant likely has phenylketonuria (PKU), an autosomal recessive disorder of amino acid metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. Affected infants are normally detected by newborn screening, but can present with vomiting, hypotonia, musty odor, developmental delay, and decreased pigmentation of the hair and eyes. The best developmental outcomes occur if a phenylalanine-restricted diet is initiated in infancy.
What are 5 causes of a large anterior fontanelle?
- Skeletal disorders (eg. rickets, osteogenesis imperfecta)
- Chromosomal abnormalities (eg. Down syndrome)
- Hypothyroidism
- Malnutrition
- Increased intracranial pressure
What are 4 causes of a small anterior fontanelle?
- Microcephaly
- Craniosynostosis
- Hyperthyroidism
- A normal variant
