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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.

retinal hemorrhages in a 4-week old girl 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(Drug information on 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.

(MORE: Child Abuse Injuries Incidence Up or Down?)

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(Drug information on 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...

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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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