Answer: These symptoms were the result of a urea(Drug information on urea) cycle disorder—not abuse.
The CT scans were confirmed as normal. A bone survey was also negative. A pediatric ophthalmologist confirmed the presence of hemorrhages but felt that they were in the range of “normal” and noted that 3% of all newborns have hemorrhages as a result of the birth process.
The acidosis, hypoglycemia, and elevated ammonia level were ultimately determined to be the result of a urea cycle disorder. The parents were later found to be fourth cousins. There was no evidence of abuse. The family was followed for years and the issue of abuse never arose again.
Birth-related hemorrhages were first recorded in 1861.1 Their incidence ranges from 2.6% to 50%.2 Evidence of birth hemorrhages may be evident for up to 6 weeks. There is no evidence that seizures are related to hemorrhages.3
1. Baum JD, Bulpitt CJ. Retinal and conjunctival haemorrage in the newborn. Arch Dis Child. 1970:45:344-349.
2. Emerson MV, Pieramici DJ, Stoessel KM, et al. Incidence and rate of disappearance of retinal hemorrhage in newborns. Ophthalmology. 2001;108:36-39.
3. Tyagi AK, Scotcher S, Kozeis N, Willshaw HE. Can convulsions alone cause retinal hemorrhages in infants? Br J Ophthalmol. 1998;82:659-660.