Mitochondrial Complex I Deficiency Involving the Brainstem

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.