Abstract
We reported two cases of Pelizaeus-Merzbacher disease. Both cases visited our hospital manifesting horizontal nystagmoid movements present from birth, and delayed motor development. Magnetic resonance imaging of the brain showed diffuse dysmyelination of the cerebral white matter, and auditory brainstem response showed waves I and II but absence of all subsequent components. Conditioned orientation reflex (COR) audiometry showed poor reactions in an infantile case whose development was severely retarded, and who spoke no meaningful words. Auditory steady-state response (ASSR) was a helpful tool for identifying her auditory ability; thereafter, her communication skills improved naturally. The other case was mildly developmentally retarded, and the results of COR audiometry and ASSR were considered the same level. The discrepancy between results of these hearing tests may arise under the influence of developmental level of the case.
MeSH terms
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Acoustic Stimulation
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Audiometry, Evoked Response / methods*
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Auditory Threshold / physiology*
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Brain / pathology
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Brain Stem / physiopathology
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Child, Preschool
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Chromosomes, Human, X / genetics
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Developmental Disabilities / diagnosis
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Developmental Disabilities / genetics
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Developmental Disabilities / physiopathology
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Evoked Potentials, Auditory, Brain Stem / physiology*
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Female
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Follow-Up Studies
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Gene Duplication
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Humans
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Language Development Disorders / diagnosis
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Language Development Disorders / genetics
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Language Development Disorders / physiopathology
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Magnetic Resonance Imaging
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Male
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Myelin Proteolipid Protein / genetics
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Nystagmus, Pathologic / diagnosis
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Nystagmus, Pathologic / genetics
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Nystagmus, Pathologic / physiopathology
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Pelizaeus-Merzbacher Disease / diagnosis*
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Pelizaeus-Merzbacher Disease / genetics
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Pelizaeus-Merzbacher Disease / physiopathology
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Sex Chromosome Aberrations
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Signal Processing, Computer-Assisted*
Substances
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Myelin Proteolipid Protein