- Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients
This retrospective observational study is a longitudinal analysis of the neuroimaging pattern of single large-scale mitochondrial deletion syndrome, which is often classified into 3 major clinical syndromes: Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia, and Pearson syndrome. Early findings typically involve the brainstem and basal ganglia with the supratentorial subcortical white matter changes and spinal cord involvement as the disease progresses.
- Pituitary Gland Duplication Syndrome: An International Imaging Analysis
This study of 10 patients with DPG showed characteristic thickening of the ventral hypothalamic midline and duplication of the infundibulum, as well as associated craniofacial dysraphism, oropharyngeal mass (ie, teratoma), and vascular and vertebral anomalies. The repetitive spectrum of ventral abnormalities involving the skull base, pituitary region, corpus callosum, tuber cinereum, brainstem, cerebral arteries, and cervical spine suggests axial mesoderm duplication.
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