Pediatric Rotation: Lethargy/congenital Hypothyroidism

Front 1

By what age is the baby expected to recover their birth weight?

Back 1

2 weeks

Front 2

What is the definition of failure to thrive?

Back 2

Failure to regain birth weight by 3 weeks of age or continuous weight loss after 10 days of life

Front 3

What are the goals for stool and urine output for newborns?

Back 3

3-5 urines and 3-4 stools per day by 3-5 days of age; and 4-6 urines and 3-6 stools by 5-7 days of age.

Front 4

How much is adequate feeding for a newborn?

Back 4

every 2-3 hours for 10-15 minutes per breast is about average. If there is more than 4 hours between feedings, or the infant is feeding for shorter durations, then intake is unlikely to be adequate.

Front 5

What is the definition of lethargy in a newborn?

Back 5

as a level of consciousness characterized by poor or absent eye movements or as the failure of a child to recognize parents or to interact with persons or objects in the environment.

Front 6

Differential of lethargy:

Back 6

includes but is not limited to infections (sepsis, meningitis), intracranial pathology (hemorrhage from trauma, hydrocephalus, hydranencephaly), metabolic disorders and chromosomal anomalies.

Front 7

Neonatal seizures

Back 7

Seizures are often subtle and may manifest as jerking of the eyes or horizontal deviation; blinking or fluttering of the eyelids; drooling, sucking, or lip smacking; tonic posturing of a limb; or apnea

Front 8

Omphalitis

Back 8

Infection of the umbilical stump

Front 9

Large Fontanelle Differential:

Back 9

skeletal disorders (e.g. rickets, osteogenesis imperfecta), chromosomal abnormalities (e.g. Down syndrome) and other conditions (e.g. hypothyroidism, malnutrition). Increased intracranial pressure can also result in large fontanels and splitting of the sutures.

Front 10

Premature Fontanelle Closure Differential:

Back 10

a feature of microcephaly, craniosynostosis, hyperthyroidism or a normal variant

Front 11

Sunken Vs. Bulging Fontanelles

Back 11

Sunken: Dehydration
Bulging: Increased Intracranial Pressure (e.g. meningitis, hydrocephalus, subdural hematoma, lead poisoning)

Front 12

Congenital Hypothyroidism: Symptoms and Treatment

Back 12

Symptoms:excessive sleeping, reduced interest in nursing, poor muscle tone, low or hoarse cry, infrequent bowel movements, exaggerated jaundice, and low body temperature.physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue.
Treatment: levothyroxine

Front 13

Congenital Adrenal Hyperplasia: Causes and Symptoms

Back 13

21-OH deficiency causes decreased production of cortisol and aldosterone. Plasma 17-OH progesterone would be elevated which would be converted to excess androgen. In females this would result in virilization. Decreased mineralocorticoid activity results in hyponatremia and hyperkalemia and presents as vomiting, dehydration, and shock in a newborn

Front 14

Congenital Hypothyroidism Cont'd:

Back 14

Primary Hypothyroidism causes up to 95% of all cases and is most often caused by an ectopic gland but could also be bc of aplasia or hypoplasia. THIS IS THE MOST COMMON PREVENTABLE CAUSE OF MENTAL RETARDATION!

Front 15

Phenylketonuria (PKU)

Back 15

autosomal recessive disorder which results in loss of PAH which is involved in the metabolism of phenylalanine to tyrosine.
clinical symptoms: missing developmental milestones, musty odor to urine, albinism, developmental microcephaly, seizures, cognitive impairment if left untreated

Front 16

Treatment of PKU

Back 16

avoidance of Phe in the diet including meat, chicken, fish, eggs, nuts, cheese, legumes, milk and other dairy products. Also the sweetener aspartame should be avoided. The oral administration of tetrahydrobiopterin (or BH4) (a cofactor for the oxidation of phenylalanine) can reduce blood levels of Phe in certain patients.