Abstract
X-linked adrenoleukodystrophy (ALD) especially in childhood cerebral type is a metabolic degenerative disease with a severe clinical course of progressive deterioration until death involving progressive demyelination of the central nervous system caused by a defect in the ABCD1 gene at Xq28.
The frequency of hearing impairment has been reported in a rather high percentage of the patients but the other apparent deteriorating motor, mental, and visual symptoms are often concealed. Thus central auditory dysfunction is not fully recognized and it is difficult to support patients directly for their difficulties from their handicaps. These symptoms are due to the localized brain lesions but because of the character of disease, the lesions continuously and progressively expanded to the whole white matter of the brain without treatment.
The duration of apparent hearing impairment continued not so long in their natural history. Serial change could be evaluated clinically, nerophysiologically, and neurophysiologically.
There are some types of leukodystrophy but they usually progress rapidly in the brain and the lesion expansion is almost uniform. Therefore, it seems difficult to recognize symptoms based only on the localized brain lesions. Even during the clinical evaluation of an ALD patient, such symptoms may often be overlooked.
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Kaga, M. (2021). Adrenoleukodystrophy (ALD). In: Landau-Kleffner Syndrome and Central Auditory Disorders in Children. Modern Otology and Neurotology. Springer, Singapore. https://doi.org/10.1007/978-981-10-1479-6_8
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DOI: https://doi.org/10.1007/978-981-10-1479-6_8
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