Autosomal dominant pigmentary type of orthochromatic leucodystrophy / 中华神经科杂志

ABSTRACT

Objective Autosomal dominant pigmentary type of orthochromatic leucodystrophy (POLD) is a rare disease characterized pathologically by demyelination and an appearance of pigmentary glial and scavenger cells in cerebral white matter. We reported a northern Chinese family with autosomal dominant POLD. Methods Brain,skin and muscle biopsies as well as brain postmortem examination were performed in proband patient. Results Proband patient,a 39-year-old woman suffered a progressive motor disturbance,dysarthria and dysphagia,accompanied with respiratory difficulty and incontinence. She died after a disease interval of 2 years. Her father,uncle and two sisters also died of similar symptoms. The onset of disease occurred in between 34～56 years old and had an interval of 1～4 years. CT showed periventrically multifocal hypodensity lesion in all three women. MRI showed multifocal lesions in parietal and frontal white matter and there appeared hypodensity on T 1 weighted scan and hyperdensity on T 2 weighted scan. Diffuse demyelination,disappearance of axons,appearance of macrophages,proliferation of astrocytes and decrease of oligodendrocytes were found in the parietal and frontal white matter. Macrophages and glial cells contained lipopigments,which ultrastructurally consisted of membrane bounded intracytoplasmatic inclusions with fingerprint pattern,curved or straight parallel arrangement. The same lipopigments were also observed in brain biopsy specimens,but not in muscle and skin tissues. Conclusion Clinical and neuropathological findings confirmed that this family should be a case of having autosomal dominant POLD. Because the pathological changes found predominantly in glial cells in white matter and the eosinophilic lipopigments in glial cells presented with morphological features of lysosomes,the POLD should be a glial lysosomal disorder.