Serial MRI and neurophysiological studies in late-infantile Krabbe disease

Pediatr Neurol. 1996 Oct;15(3):240-4. doi: 10.1016/s0887-8994(96)00168-3.

Abstract

We report serial clinical, radiological, and neurophysiological findings of a patient with late-infantile Krabbe disease. At age 13 months, the patient was hospitalized for sudden stiffness and irritability and a diagnosis of spastic diplegia was made. At age 24 months, he was readmitted because of further psychomotor deterioration; neurologically, he manifested severe spastic tetraplegia with optic atrophy. MRI disclosed diffuse high intensity in the cerebral white matter on T2-weighted images. Nerve conduction velocity and evoked potential studies were markedly abnormal, as were the EEG and the EMG. Assay of galactocerebroside beta-galactosidase activity in leukocyte culture disclosed a marked deficiency of the enzyme, confirmatory of the diagnosis of late-infantile Krabbe disease. Serial MRI and neurophysiological studies performed every 6 months for 18 months demonstrated the progressive nature of the disorder, correlating with the clinical deterioration.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology*
  • Cells, Cultured
  • Electroencephalography
  • Electromyography
  • Evoked Potentials, Motor
  • Galactosylceramidase / isolation & purification
  • Humans
  • Infant
  • Leukodystrophy, Globoid Cell / diagnosis*
  • Leukodystrophy, Globoid Cell / diagnostic imaging
  • Leukodystrophy, Globoid Cell / enzymology
  • Magnetic Resonance Imaging
  • Male
  • Neural Conduction
  • Psychomotor Disorders / etiology
  • Radiography

Substances

  • Galactosylceramidase