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Cerebello-brain stem orthochromatic leukodystrophy with floppiness and bulbar paralysis.
Clin Neuropathol. 1984 Jul-Aug; 3(4):178-84.CN

Abstract

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 with changes of the cerebellar cortex, pontine nuclei, inferior olivary nuclei and part of the basal ganglia. Clinical, pathological and biochemical studies revealed that this disease is different from metachromatic leukodystrophy, Krabbe's globoid cell leukodystrophy and adrenoleukodystrophy. The clinical entity of cerebello-brain stem orthochromatic leukodystrophy is discussed.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6478680

Citation

Kaga, M, et al. "Cerebello-brain Stem Orthochromatic Leukodystrophy With Floppiness and Bulbar Paralysis." Clinical Neuropathology, vol. 3, no. 4, 1984, pp. 178-84.
Kaga M, Kawasaki M, Mizuno Y, et al. Cerebello-brain stem orthochromatic leukodystrophy with floppiness and bulbar paralysis. Clin Neuropathol. 1984;3(4):178-84.
Kaga, M., Kawasaki, M., Mizuno, Y., Ohuchi, M., Nagashima, K., & Mohri, N. (1984). Cerebello-brain stem orthochromatic leukodystrophy with floppiness and bulbar paralysis. Clinical Neuropathology, 3(4), 178-84.
Kaga M, et al. Cerebello-brain Stem Orthochromatic Leukodystrophy With Floppiness and Bulbar Paralysis. Clin Neuropathol. 1984 Jul-Aug;3(4):178-84. PubMed PMID: 6478680.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cerebello-brain stem orthochromatic leukodystrophy with floppiness and bulbar paralysis. AU - Kaga,M, AU - Kawasaki,M, AU - Mizuno,Y, AU - Ohuchi,M, AU - Nagashima,K, AU - Mohri,N, PY - 1984/7/1/pubmed PY - 1984/7/1/medline PY - 1984/7/1/entrez SP - 178 EP - 84 JF - Clinical neuropathology JO - Clin. Neuropathol. VL - 3 IS - 4 N2 - 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 with changes of the cerebellar cortex, pontine nuclei, inferior olivary nuclei and part of the basal ganglia. Clinical, pathological and biochemical studies revealed that this disease is different from metachromatic leukodystrophy, Krabbe's globoid cell leukodystrophy and adrenoleukodystrophy. The clinical entity of cerebello-brain stem orthochromatic leukodystrophy is discussed. SN - 0722-5091 UR - https://www.unboundmedicine.com/medline/citation/6478680/Cerebello_brain_stem_orthochromatic_leukodystrophy_with_floppiness_and_bulbar_paralysis_ L2 - http://www.diseaseinfosearch.org/result/4198 DB - PRIME DP - Unbound Medicine ER -