Child Abuse-or Mimic? Retinal Hemorrhages in an Infant

A 4-week-old girl was brought to the emergency department while she was actively convulsing. The child was afebrile, but had repeated bouts of emesis. Her parents reported that she had been irritable and that her appetite had been diminished for several days. The baby had been breast-fed exclusively until a week before the ED visit.

Except for the fact that the family lived near an area in which western equine encephalitis was endemic, there was no other pertinent clinical history.

After seizure activity stopped with lorazepam administration, clinical evaluation was initiated. A CBC count and renal panel were ordered and the child was prepared for a lumbar puncture to rule out encephalitis.

Fundoscopy was performed before the lumbar puncture; an adult ophthalmologist confirmed the presence of retinal hemorrhages. There was no evidence of increased intracranial pressure. Findings similar to those in the Figure were noted.

CT scans of the head were normal, as were results of the lumbar puncture. The CBC count results were normal for age. Tests of renal function were as follows: sodium, 148 mmol/L (normal, 132-141); chloride, 110 mmol/L (98-107); carbon dioxide, 13 mmol/L (normal, 16-25); potassium, 3.2 mmol/L (normal, 3.3-4.7). The glucose level was 35 g/dL.

The ophthalmologist was not able to rule abuse in or out based on his examination because of the number of retinal hemorrhages seen on the exam.

Two additional lab tests were requested because of the acidosis and hypoglycemia. The lactic acid was normal; the serum ammonia was 300 mmoL/L (normal, 0-32). The hypoglycemia was treated and the child was transferred to a tertiary care center. 

Do you suspect abuse--or do the physical symptoms suggest an underlying medical explanation?

 

Please click here for the answer and discussion...

Answer: These symptoms were the result of a 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.³References:
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.