Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene.
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.
Hatanaka
Yukiko
Y
Department of Internal Medicine, Naruto General Hospital, Chiba.
Okano
Tomomi
T
Oda
Kayo
K
Yamamoto
Kanji
K
Yoshida
Kunihiro
K
D000328:Adult; D017398:Alternative Splicing; D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics*; D003128:Coma / Q000209:etiology; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000150:complications*; D005091:Exons / Q000235:genetics*; D006801:Humans; D019189:Iron Metabolism Disorders / Q000150:complications* / Q000235:genetics; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012640:Seizures / Q000209:etiology; D017422:Sequence Analysis, DNA; D014158:Transcription, Genetic
D002570:Ceruloplasmin