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.
ABSTRACT
To investigate the dynamic changes in ICE mRNA expression and its relationship with IL 18 and IFN ? mRNA expression in thermal injured rats.The animals were subjected to a 30% total body surface area full thickness thermal injury,and fluid resuscitation was performed at 6 hours post burn. 54 male Wistar rats were randomly divided into three groups: normal controls,30% Ⅲ degree burn group,and selective decontamination of the digestive tract (SDD) treatment group. P1asma endotoxin was measured by limulus amebocyte lysate test,and tissue ICE,IL 18 and IFN ? mRNA expression was determined by reverse transcription po1ymerase chain reaction (RT PCR).The results showed that ICE, IL 18, and IFN ? mRNA expression significantly increased in the intestine,1ung,liver,and kidney at 2 hours,peaking at 8 hours,and a high level was maintained till 24 hours. However, treatment with SDD could lower plasma endotoxin levels,and markedly inhibit ICE, IL 18, and IFN ? mRNA expression in various organs.This study suggests that major burns can lead to a marked elevation of tissue ICE mRNA expression in vital organs,which might be associated with IL 18 and IFN ?mRNA expression induced by gut derived endotoxemia.