Neurophysiology and MRI in late-infantile metachromatic leukodystrophy

• Published in: Pediatric neurology 1999-11, Vol.21 (5), p.843-846
• Main Authors: Zafeiriou, Dimitrios I, Kontopoulos, Eleftherios E, Michelakakis, Helen M, Anastasiou, Athanasia L, Gombakis, Nikos P
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Bone Marrow Transplantation; Child, Preschool; Errors of metabolism; Evoked Potentials - physiology; Female; Humans; Leukodystrophy, Metachromatic - diagnosis; Leukodystrophy, Metachromatic - physiopathology; Leukodystrophy, Metachromatic - therapy; Lipids (lysosomal enzyme disorders, storage diseases); Magnetic Resonance Imaging; Medical sciences; Metabolic diseases; Neural Conduction - physiology
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/S0887-8994(99)00093-4

We present serial clinical, radiologic, and neurophysiologic findings of a patient with late-infantile metachromatic leukodystrophy who was first admitted at 30 months of age because of gait disturbance. The neurologic findings were consistent with mild spastic diplegia (occasionally with toe walking). Magnetic resonance imaging disclosed diffuse high intensity in the cerebral white matter on T 2-weighted images. Nerve conduction velocity studies and evoked-potential studies were markedly abnormal. Assay of arylsulfatase A activity in leukocyte culture disclosed a marked deficiency of the enzyme, confirming the diagnosis of late-infantile metachromatic leukodystrophy. Serial neurophysiologic studies demonstrated a marked decrease of nerve conduction velocities, both motor and sensory, as well as prolongation or disappearance of brainstem auditory-, visual-, and somatosensory–evoked potential latencies. Magnetic resonance imaging studies revealed initially diffuse increased signal intensity of periventricular and subcortical white matter on T 2-weighted images, progressing to cortical atrophy with involvement of the arcuate fibers and the cerebellar white matter, correlating with the clinical deterioration (severe spastic tetraplegia with optic atrophy and epilepsy).