Based on your summary statement, select the most likely diagnoses remaining on your differential at this point.
The best options are indicated below. Your selections are indicated by the shaded boxes.
A. Congenital hypothyroidism
B. Shaken baby syndrome
C. Genetic Conditions such as Down Syndrome
D. Congenital adrenal hyperplasia
E. Inborn error of metabolism
The correct answers are A, D, E.
Diagnosis
Comment
Congenital Hypothyroidism
Hypotonia, large fontanelles, an umbilical hernia, and jaundice are all signs of congenital hypothyroidism and strongly suggest this diagnosis.
Although umbilical hernias and jaundice are common in newborns, they are more common in neonates with hypothyroidism.
Congenital adrenal hyperplasia
Although Olivia did not show signs of virilization, this is an important cause of decreased feeding and activity in infants and should be ruled out.
In rare instances, the ambiguous genitalia may not be identified. These affected females may present with a salt-losing adrenal crisis at one to two weeks of age.
Because this infant did not have newborn screening, CAH remains a possible diagnosis.
Inborn error of metabolism
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.
Without treatment, patients develop a progressive encephalopathy
