Abstract
Children with mitochondrial disease may present with diabetes mellitus (DM) without autoimmune antibodies as an initial manifestation, however, it is difficult to make a precise diagnosis in early stages. We present a 2-year-old male patient with mitochondrial disease who showed insulin-dependent DM without autoimmune antibodies as an initial symptom. He later presented with progressive motor deterioration, hearing disability, ptosis, external ophthalmoplegia, and retinitis pigmentosa at 6 years and 6 months. T2- and diffusion-weighted imaging revealed high signal lesions in the subcortical white matter, anterior thalamus, globus pallidus, and brainstem. MR spectroscopy showed elevated lactate and low N-acetylaspartate in the affected white matter. Genetic analysis revealed a single large-scale mitochondrial DNA deletion at 7117-13994, leading to a diagnosis of mitochondrial DNA deletion syndrome associated with insulin-dependent DM. Although the frequency of DM in pediatric mitochondrial disease is low, mitochondrial disease, especially due to mitochondrial DNA deletion, should be considered as a differential diagnosis in those with insulin-dependent DM without autoimmune antibodies, and MRI and MR spectroscopy are recommended for an early diagnosis.