Differential Diagnosis for a 5-day-old Girl with Fussiness
The patient's presentation includes fussiness, nonbloody and nonbilious vomiting after feeds, lethargy, poor tone, jaundice, sunken anterior fontanelle with overriding sutures, bilateral cataracts, and a palpable liver. Considering these symptoms, the differential diagnosis can be categorized as follows:
Single most likely diagnosis
- D. Newborn inability to metabolize breast milk: The patient's symptoms, such as vomiting after feeds, lethargy, and poor tone, suggest a possible issue with metabolizing breast milk, which could be due to a condition like galactosemia. The presence of bilateral cataracts also supports this diagnosis, as galactosemia can cause cataract formation.
Other Likely diagnoses
- B. In utero fetal alcohol exposure: Although less likely, in utero fetal alcohol exposure could explain some of the patient's symptoms, such as growth restriction (weight at the 20th percentile) and potential developmental issues. However, it does not directly explain the metabolic symptoms or the cataracts.
- A. Advanced maternal age: While advanced maternal age can increase the risk of various genetic conditions, it is not a direct cause of the patient's symptoms. However, it could be a contributing factor to the likelihood of genetic disorders.
Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- Infections (e.g., sepsis, meningitis): Although not directly suggested by the symptoms, infections can present with nonspecific signs in newborns, such as lethargy, poor tone, and jaundice. It is crucial to consider and rule out infections due to their high mortality rate if left untreated.
- Congenital adrenal hyperplasia: This condition can cause vomiting, lethargy, and jaundice in newborns. It is essential to consider and diagnose promptly, as it can be life-threatening if not treated.
Rare diagnoses
- E. Newborn inherited muscle dystrophy: While muscle dystrophy could explain poor tone, it does not account for the other symptoms like vomiting, jaundice, or cataracts, making it a less likely diagnosis.
- C. Maternal nonadherence to vaccination schedule: This option does not directly relate to the patient's symptoms and is more relevant to preventing infectious diseases. It is not a likely cause of the patient's presentation.