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E-mail address: fujin poppy. Email: fujin poppy. Use the link below to share a full-text version of this article with your friends and colleagues. Learn more. A missense mutation of the ABCD1 gene c.
We should note that adrenoleukodystrophy of the olivopontocerebellar form can be present, even if there is no involvement in the cerebrum. This case is unique, because it showed bilateral pontocerebellar pathway involvements symmetrically.
If patients with the olivopontocerebellar form are diagnosed early, it might be possible to suppress the progression of the disease with bone marrow transplantation. On admission to Nagaoka Red Cross Hospital, Niigata, Japan, he showed a mild retrogression of intelligence Wechsler Adult Intelligence Scale score, 76 , character change and anosodiaphoria. There was no indication of visual impairment or auditory disorder. He exhibited a mild ataxia of the limbs and trunk with a staggering gait.
Deep tendon reflexes were normal. Impairment of the bilateral visual and auditory pathways was shown by visual evoked potential and auditory brain stem responses. They showed gait ataxia as the initial symptom at the ages of 32 years and 48 years. Both of them progressed to the cerebral form within 2 years of onset. Arg His reported previously as a cause of ALD was found. It was reported previously that the missense mutation of the ABCD1 gene c.
Although there is no clear correlation between genotypes and phenotypes in patients with ALD, we consider that additional pathogenetic factors might regulate the phenotype; for example, genetic background and environment. The present patient showed no cerebral regions on brain MRI. This case is unique, because it showed bilateral pontocerebellar pathway involvements symmetrically with gadolinium enhancement. We should note that ALD of the OPC form might occur so that an early diagnosis and adequate treatment can be initiated, even if the regions are limited to the cerebellum or brain stem on brain MRI.