@article {Nemr:2025:2637-8329:64,
title = "Mitochondrial Complex I Deficiency Involving the Brainstem",
journal = "Neurographics",
parent_itemid = "infobike://asnr/ng",
publishercode ="asnr",
year = "2025",
volume = "15",
number = "2",
publication date ="2025-04-01T00:00:00",
pages = "64-66",
itemtype = "ARTICLE",
issn = "2637-8329",
eissn = "2637-8329",
url = "https://asnr.publisher.ingentaconnect.com/content/asnr/ng/2025/00000015/00000002/art00003",
doi = "doi:10.3174/ng.2400037",
keyword = "FLAIR = Fluid-Attenuated Inversion Recovery, MRI = Magnetic Resonance Imaging, EEG = Electroencephalogram, DWI = Diffused-weighted Imaging",
author = "Nemr, C. and Chen, J.D. and Allam, T.",
abstract = "Mitochondrial diseases are rare genetic disorders caused by mutations in nuclear or mitochondrial genes. We present the first known case of mitochondrial complex I deficiency in the radiology literature, a rarer disorder in neonates. Patients may exhibit progressive brainstem dysfunction,
including oculomotor abnormalities, bulbar symptoms, and respiratory difficulties, without basal ganglia lesions. A key distinguishing feature is the unique radiologic pattern of brainstem involvement without remarkable basal ganglia abnormalities.",
}