PEM Source

Your source for all things Pediatric Emergency Medicine

1

Question: Inborn Error

(Click the link to comment and to vote – voting not working through email, sorry!)

Which of the following genetic metabolic disorders can mimic non-accidental trauma?
AbuseMetabolicTrauma

pemsou5_wp • July 28, 2020


Previous Post

Next Post

Comments

  1. Kelly July 28, 2020 - 11:19 am Reply

    B) Glutaric acidemia, type 1
    Glutaric acidemia, type 1, is caused by deficiency of glutaryl-CoA dehydrogenase. It typically presents in the first 2 years of life with acute onset encephalopathy, movement disorder, and macrocephaly. There can be bilateral frontotemporal atrophy and/or widening of the Sylvian fissure. The cerebral atrophy and elongated bridging veins results in easy rupture of the veins, leading to subdural hematomas. Retinal hemorrhages have also been reported. Patients with glutaric acidemia are not at increased risk of fractures, however, and subdural hematomas in the absence of frontotemporal atrophy is not consistent with glutaric acidemia.

Leave a Reply

Your email address will not be published / Required fields are marked *