Aceruloplasminemia with Juvenile-onset Diabetes Mellitus Caused by Exon Skipping in the Ceruloplasmin Gene
2003 Volume 42 Issue 7 Pages 599-604
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2003 Volume 42 Issue 7 Pages 599-604
We herein report a case of aceruloplasminemia in a 27-year-old man who had a 10-year history of diabetes mellitus. The patient developed a convulsion, most likely as a result of hypoglycemia. Unexpectedly, this episode left him in a prolonged state of unconsciousness, which necessitated neurological testing and imaging. Brain MRI showed bilateral hypo-intensities in the basal ganglia and thalamus. Molecular analysis revealed a novel splicing mutation in the ceruloplasmin (CP) gene that would result in the skipping of exon 3 during transcription. This case suggests that diabetes associated with aceruloplasminemia can become manifest in the teens.
(Internal Medicine 42: 599-604, 2003)
