A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs

• Published in: BMC neurology 2019-11, Vol.19 (1), p.301-301, Article 301
• Main Authors: Murakami, Takenobu, Abe, Dan, Matsumoto, Hideyuki, Tokimura, Ryo, Abe, Mitsunari, Tiksnadi, Amanda, Kobayashi, Shunsuke, Kaneko, Chikako, Urata, Yuka, Nakamura, Masayuki, Sano, Akira, Ugawa, Yoshikazu
• Format: Article
• Language: English
• Subjects: Aged; Antigens; Atrophy; Blood; Case Report; Central motor conduction time; Chorea; Cognitive ability; Diagnostic imaging; Erythrocytes; Flow cytometry; Gait; Genes; Genetic research; Humans; Leg; Legs; Magnetic fields; Magnetic Resonance Imaging; Male; McLeod syndrome; Motor-evoked potential; Movement disorders; Movement Disorders - etiology; Muscle weakness; Muscle Weakness - etiology; Mutation; Nervous system; Neuroacanthocytosis - diagnosis; Neuroimaging; Neuropathy; Neurophysiology; Polyneuropathies; Polyneuropathy; Proteins; Putamen; Seizures; Seizures (Medicine); Sensorimotor system; Somatosensory evoked potentials; Somatosensory-evoked potential; Studies; Transcranial magnetic stimulation
• ISSN: 1471-2377; 1471-2377
• DOI: 10.1186/s12883-019-1526-9

McLeod syndrome is a rare X-linked recessive acanthocytosis associated with neurological manifestations including progressive chorea, cognitive impairment, psychiatric disturbances, seizures, and sensorimotor axonal polyneuropathy. However, no studies have investigated the functioning of central sensorimotor tracts in patients with McLeod syndrome. A 66-year-old man had experienced slowly progressive chorea and gait disturbance due to lower limb muscle weakness since his early fifties. Blood examinations showed erythrocyte acanthocytosis and the reduction of Kell antigens in red blood cells. Brain magnetic resonance imaging showed atrophy of the bilateral caudate nuclei and putamen. The diagnosis of McLeod syndrome was confirmed by the presence of a mutation of the XK gene on the X chromosome. Somatosensory-evoked potential and transcranial magnetic stimulation studies demonstrated that the central sensory and motor conduction times were abnormally prolonged for the lower extremity but normal for the upper extremity. This is the first report of the involvement of the central sensorimotor tracts for the legs in a patient with McLeod syndrome. The clinical neurophysiological technique revealed the central sensorimotor tracts involvements clinically masked by neuropathy.