title: Congenital caudal spinal atrophy: a case report.
abstract: An infant presented at birth with symmetrical flaccid paraparesis limited to lower legs and feet, and involving the proximal and distal muscle group. Limitation of the ankle joints was noticed. There were no sensory deficits to painful stimuli and no evidence of loss of sphincter control. Muscle CT revealed severe muscle atrophy in the pelvis and lower limbs, and electromyographic study of the bilateral hamstrings showed polyphasic giant potentials. Motor and sensory nerve conduction velocities were within normal limits, and the spinal MRI showed no structural abnormalities in the cord and the lower spine. These features suggest a congenital segmental abnormality at the anterior horn cell level in the lumbosacral spinal cord, which we propose to call "congenital caudal spinal atrophy".
authors.affiliation: Division of Child Neurology, Tottori University Faculty of Medicine, Yonago, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: M
authors.initials: M
authors.lastname: Inagaki
authors.forename: Y
authors.initials: Y
authors.lastname: Tomita
authors.forename: K
authors.initials: K
authors.lastname: Ohno
mesh_terms: D001176:Arthrogryposis / Q000473:pathology*; D001284:Atrophy / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D013116:Spinal Cord / Q000473:pathology*; D014897:Spinal Muscular Atrophies of Childhood / Q000473:pathology*; D014057:Tomography, X-Ray Computed