Cerebello-brain stem orthochromatic leukodystrophy with floppiness and bulbar paralysis.

@article{Kaga1984CerebellobrainSO,
  title={Cerebello-brain stem orthochromatic leukodystrophy with floppiness and bulbar paralysis.},
  author={Makiko Kaga and Masato Kawasaki and Yuji Mizuno and Masatsugu Ohuchi and Kazuo Nagashima and Noriaki Mohri},
  journal={Clinical neuropathology},
  year={1984},
  volume={3 4},
  pages={178-84}
}
A two year and ten-month-old girl with cerebello-brain stem leukodystrophy is presented. She was hypotonic with spasticity and showed delayed motor development until she was twelve months old, when regression of motor activities began. Progressive hypotonia, dysphagia and fatal respiratory abnormalities developed. Auditory brain stem response was absent. Pathological examination revealed primary demyelination with a predilection for the cerebellum, brain stem and spinal cord, in association… CONTINUE READING