Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli's syndrome)

We report the successful treatment of the syndrome of pigmentary dilution and immunodeficiency (Griscelli's syndrome) with allogeneic bone marrow transplantation. Griscelli's syndrome includes silvery hair, recurrent infections, hepatosplenomegaly, progressive neurologic deterioration, and lymphohistiocytosis and is uniformly fatal. We present a family in which four of seven children of consanguinous parents were affected. The affected children were all born with silvery hair. Microscopic examination of the hair showed large clumps of pigment in the hair shaft. Skin biopsy revealed an accumulation of melanosomes in the melanocytes. Three of the affected children were deceased before 20 months of age. Pathology of liver and lung in two of the siblings showed an infiltration of lymphocytes and histiocytes. Immunologic studies in one of these cases were notable for a decreased number of T cells and poor T-cell mitogen stimulation with concanavalin A (Con A) and pokeweed mitogen (PWM). Recently, a fourth sibling with silvery gray hair was referred to us at 3 months of age for evaluation. T-cell function studies were normal and she appeared in overall good health. Because of the expected fatal outcome, allogeneic bone marrow transplantation was performed at 4 months of age. Two years later the patient remains in excellent health. This suggests that cells of hematopoietic origin are responsible for the fatal outcome in Griscelli's syndrome and that bone marrow transplantation early in the course of the disease is an important modality for treatment of this syndrome.     

Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics

We report two autopsy cases of siblings with adult-onset autosomal dominant leukodystrophy characterized by destruction of cerebral white matter, large numbers of axonal spheroids and pigmented glia in the fronto-temporal lobes. Both patients presented with motor and cognitive symptoms and aphasia, 2–3 years before death. At autopsy, the brain showed brown coloration and decreased volume of white matter in the frontal and temporal lobes as well as corpus callosum. Microscopically, marked loss of myelin and axons and abundant axonal spheroids without apparent neuronal loss were observed in the frontal and temporal lobes, which was consistent with hereditary diffuse leukodystrophy with spheroids (HDLS). In addition, glial cells, most consistent with macrophages and containing pigments that were stained by Sudan III and PAS, were found in the white matter lesions. The present cases showed overlapping features with HDLS and pigmentary type of orthochromatic leukodystrophy, suggesting that the pathomechanisms of these two diseases are closely related.     

针灸治疗视网膜色素变性近况

从针灸单一治疗和针灸综合治疗两方面来介绍近年来针灸治疗视网膜色素变性(RP)的发展概况,认为针灸治疗RP虽不能获得根本上的治愈,但多年的临床研究表明,在提高视力,扩大视野,延缓病变等方面,其疗效是非常确切的,且无不良毒副作用。     

Iris chafing in pseudophakia

Iris defects occur in pseudophakic patients with posterior chamber intraocular lens in sulcus. Prevalence of pigmentary dispersion syndrome and pigmentary glaucoma has been evaluated in 920 pseudophakic patients (920 eyes). 16.08% of patients showed pigment dispersion syndrome, while 1.96% developed pigmentary glaucoma. Diabetic patients had a statistically significant greater prevalence of these complications than non-diabetic ones (p<0.05). The authors suggest the preventive use of alpha-blockers in presence of pigment dispersion syndrome or diabetes mellitus, even in absence of ocular hypertension.     

视网膜色素变性患者的血液粘度及其相互关系

目的：测定分析视网膜色素变性患者的血液粘度及其相互关系.方法：对50例视网膜色素变性患者和40例正常人对照，进行血液流变学检测及胆固醇、甘油三脂的检查.结果：视网膜色素变性患者的血液粘度、红细胞聚集指数及胆固醇、血脂明显高于正常人对照组.结论：视网膜色素变性病人具有高粘滞血症，能使血流速度变缓，再加上视网膜色素变性患者血管变细，故导致血液循环障碍，从而加重了视网膜，视神经功能的损害.     

Griscelli syndrome

An eight month old male infant presented with recurrent infections and partial albinism. Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair biopsies in Griscelli syndrome are distinctive.     

儿童Kearns-Sayre综合征8例临床分析

目的 分析儿童Kearns-Sayre综合征（KSS）的临床特点及诊断方法。方法 对8例临床诊断为KSS患儿的临床症状体征、头颅影像学特点、实验室检查、常见线粒体基因（mtDNA）点突变筛查、肌肉病理和随访等资料进行回顾性分析。结果 男6例,女2例;发病年龄5岁3个月至13岁1个月,平均9岁5个月;病程1个月至3年,平均1年6个月。8例就诊时均出现眼睑下垂,5例以眼睑下垂为首发症状,双眼同时发病4例;2例以共济失调为首发,1例以智力倒退为首发,这3例在发病后1个月至2年半均出现双眼睑下垂。2例合并糖尿病,1例既往患Person综合征。8例均有眼球活动受限和身材矮小体征,身高和体重均在正常同龄儿的P10以下;6例眼底检查发现视网膜色素变性,1例入院时无视网膜色素变性,5年随访时出现视网膜色素变性。8例均未见视神经萎缩。小脑共济失调6例。心脏传导阻滞5例,其中3例入院时即发现完全或不完全右束支传导阻滞,分别于1年7个月至4年后发展为Ⅲ度房室传导阻滞,随访均死亡;2例入院时ECG未见传导阻滞,随访4～5年时出现Ⅰ度房室传导阻滞。6例CSF蛋白均＞1 000 mg·L-1。7例行尿有机酸分析,其中4例正常,3例提示酮尿症。常见mtDNA的A3243G、A8344G、T8993G、T8993C、A1555G、G11778A点突变筛查,均未发现突变。8例均行头颅MRI检查,均表现为双侧对称性白质长T1长T2信号,Flair像高信号,以额、顶叶皮质下白质及小脑白质为主,2例累及胼胝体压部,1例内囊后肢受累;6例脑干受累,以中脑和桥脑背盖部为主,丘脑和基底节区受累分别为4例和3例。肌肉病理6例组织化学检查可见破碎红肌纤维,8例电镜下均观察到肌膜下线粒体堆积和形态异常的线粒体。1例应用Southern印迹方法发现肌肉组织中存在大片段mtDNA缺失约6 kb。6例随访2~5年,其中3例死亡,3例病情进行性加重。结论 儿童KSS罕见,双眼睑下垂、眼肌麻痹、视网膜色素变性、小脑共济失调和心脏传导阻滞为主要表现。根据临床及肌肉活检可进行临床诊断,肌肉样本中发现mtDNA大片段缺失可确诊。     

窄谱中波紫外线照射治疗色素性紫癜性皮病疗效观察

目的观察窄谱中波紫外线(NB-UVB)治疗色素性紫癜性皮病的临床疗效。方法将入选患者随机分为两组,治疗组11例,用NB-UVB治疗仪治疗,初始剂量0.30J/cm2,每次递增0.06～0.10J/cm2,最大剂量2.00J/cm2,隔日1次,共30次,随访3个月。对照组10例,口服复方芦丁2片,3次/d;维生素E丸100mg,3次/d;外用糠酸莫米松软膏1次/d,连续治疗2个月。结果治疗组有效率90.91%,对照组为40.00%,两组比较差异有统计学意义(P<0.05)。结论 NB-UVB治疗色素性紫癜性皮病疗效好,不良反应少。     

儿童Kearns-Sayre综合征8例临床分析

目的 分析儿童Kearns-Sayre综合征（KSS）的临床特点及诊断方法.方法 对8例临床诊断为KSS患儿的临床症状体征、头颅影像学特点、实验室检查、常见线粒体基因（mtDNA）点突变筛查、肌肉病理和随访等资料进行回顾性分析.结果 男6例,女2例;发病年龄5岁3个月至13岁1个月,平均9岁5个月;病程1个月至3年,平均1年6个月.8例就诊时均出现眼睑下垂,5例以眼睑下垂为首发症状,双眼同时发病4例;2例以共济失调为首发,1例以智力倒退为首发,这3例在发病后1个月至2年半均出现双眼睑下垂.2例合并糖尿病,1例既往患Person综合征.8例均有眼球活动受限和身材矮小体征,身高和体重均在正常同龄儿的P10以下;6例眼底检查发现视网膜色素变性,1例入院时无视网膜色素变性,5年随访时出现视网膜色素变性.8例均未见视神经萎缩.小脑共济失调6例.心脏传导阻滞5例,其中3例入院时即发现完全或不完全右束支传导阻滞,分别于1年7个月至4年后发展为Ⅲ度房室传导阻滞,随访均死亡;2例入院时ECG未见传导阻滞,随访4～5年时出现Ⅰ度房室传导阻滞.6例CSF蛋白均＞1 000 mg·L-1.7例行尿有机酸分析,其中4例正常,3例提示酮尿症.常见mtDNA的A3243G、A8344G、T8993G、T8993C、A1555G、G11778A点突变筛查,均未发现突变.8例均行头颅MRI检查,均表现为双侧对称性白质长T1长T2信号,Flair像高信号,以额、顶叶皮质下白质及小脑白质为主,2例累及胼胝体压部,1例内囊后肢受累;6例脑干受累,以中脑和桥脑背盖部为主,丘脑和基底节区受累分别为4例和3例.肌肉病理6例组织化学检查可见破碎红肌纤维,8例电镜下均观察到肌膜下线粒体堆积和形态异常的线粒体.1例应用Southern印迹方法发现肌肉组织中存在大片段mtDNA缺失约6 kb.6例随访2～5年,其中3例死亡,3例病情进行性加重.结论 儿童KSS罕见,双眼睑下垂、眼肌麻痹、视网膜色素变性、小脑共济失调和心脏传导阻滞为主要表现.根据临床及肌肉活检可进行临床诊断,肌肉样本中发现mtDNA大片段缺失可确诊.