Child Abuse—or Mimic? Retinal Hemorrhages in an Infant

By Gregory Wallace, DO | August 24, 2012

Gregory Wallace, DO, is a hospitalist at Cincinnati Children's Hospital Medical Center in Cincinnati.

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

References:
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.

Pages: 1 2

by jaume querol | August 30, 2012 11:49 PM EDT

Patients with one of the five forms of urea cycle disorders are rarely acidotic(may be secondary to seizure, .... but not as essential in these enzyme defects of the urea cycle). Severe refractory acidosis suggests organic acid disorder or mitochondrial disorder.

by jaume querol | August 30, 2012 2:24 AM EDT

by jaume querol
The association of seizures and retinal hemorrhages with hypoglycemia, hyperammonemia, metabolic acidosis, normal lactate levels, suggest a biological substrate of the disease rather than a case of abuse.
Consider first glutaric aciduria. Also multiple deficiency of mitochondrial fatty acid oxidation MADD or GLUT II ,and ketogenesis disorders.
And finally, although usually present without hypoglycemia, propionic or methylmalonic organic acidemias (by increased ammonium)

by masoud sakhaei | August 28, 2012 1:20 PM EDT

with elevated ammonia, I r/o metabolic d/o first.

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