[A case of a spinal cord involvement in an adult mitochondrial disease with an m.3243A>G].

Abstract

A 44-year-old woman had weakness in her right lower limb, a right Babinski reflex, paresthesia in her left lower leg, hypoesthesia at and below the T6 dermatome, and abnormality of the vibrational perception in both legs after prolonged exertion. Her medical history comprised sensorineural hearing loss and diabetes. Furthermore, her child had mitochondrial disease with an m.3243A>G. The patient was diagnosed with maternally inherited diabetes and deafness (MIDD), and the disease-causing variant was identified as m.3243A>G. Cerebrospinal fluid analysis revealed the presence of oligoclonal bands. T₂-weighted magnetic resonance imaging showed hyperintensity of the right side of the spinal cord at the level of the 4th thoracic vertebra. This paper examines spinal cord lesions that occur in patients with mitochondrial diseases.