一腓骨肌萎缩症家系临床及基因分析

目的分析一腓骨肌萎缩症家系的临床表现及不同基因检测方法的特点。方法收集一CMT家系8名成员临床资料,并应用等位基因特异性PCR-双酶切方法及多重连接依赖的探针扩增技术(MLPA)检测PMP22基因突变情况,同时选择60名性别、年龄无明显差异的健康人做为对照组。结果该家系中患病者以行走不稳、跨阈步态,伴有弓形足为主要临床表现。该家系中5名成员经等位基因特异性PCR-双酶切及MLPA方法均检测出PMP22基因重复序列,其中出现临床症状的有4名(Ⅱ3、Ⅱ9、Ⅱ11、Ⅲ7),未出现临床症状但基因检测结果示PMP22基因重复序列的为携带者有1名(Ⅲ5),家系中余3名成员及对照组60名均未见重复序列。结论基因检测在明确CMT诊断中起重要作用,且MLPA法筛查基因时操作更简便、灵敏度更高、特异性更好。     

Treatment of dyskeratosis congenita with Granulocyte Colony-Stimulating Factor and Erythropoietin

Aplastic anaemia is both frequent and difficult to manage in patients with dyskeratosis congenita (DC). We recently treated a 23-year-old male for a year with granulocyte colony-stimulating factor (G-CSF) and erythropoietin (Ep), with an excellent neutrophil response, and a transient effect on haemoglobin levels. G-CSF alone or combined with other cytokines may provide at least a partial effect in pancytopenic patients with DC.     

Lethal Congenital Muscular Dystrophy with Arthrogryposis Multiplex Congenita: Three New Cases and Review of the Literature

Congenital muscular dystrophy (CMD) comprises a heterogeneous group of muscle disorders. We report on two stillborn sibs with early lethal CMD and a prematurely born boy who died within minutes after birth. The pregnancies were complicated by polyhydramnios. All presented with arthrogryposis multiplex congenita, severe muscle wasting, lung hypoplasia, and hydrops. The muscle biopsies showed fibrosis, variation in fiber size, and extensive fat replacement compatible with muscular dystrophy. Fatal CMD seems to be distinct from CMD with survival after birth and is probably autosomal recessively inherited.     

缺失型DMD／BMD患者PCR快速检测的可行性与意义

应用对应于Ｄｙｓｔｒｏｐｈｉｎ基因缺失热区的二对ＰＣＲ引物和一对内对照无关引物，在同一反应体系中扩增，检测６６例ＤＭＤ／ＢＭＤ患者。发现其中２５例存在１７号或４９号外显子缺失，与同时采用ｃＤＮＡ探针杂交检测出的３５例基因缺失相比．检出率达７１．４％。说明该扩增系统能够作为快速筛查缺失型ＤＭＤ／ＢＭＤ患者的有效手段。这对指导合理选用探针，尤其在产前诊断方面，具有重要意义。     

Epileptic seizures,arthrogryposis, and migrational brain disorders: a syndrome?

Introduction – Arthrogryposis multiplex congenita (AMC) may be associated with multiple developmental defects. In some severely affected newborns with AMC, autopsy studies have suggested a common mechanism of malmigration at the spinal and cerebral levels. To our knowledge, a constellation of arthrogryposis, epileptic seizures, and brain migrational anomalies in adult patients has not previously been described in a clinical material. Material and methods – Six consecutive adult patients with arthrogryposis multiplex congenita and epileptic seizures form the basis of the present study. Five patients had joint contractures and reduced muscle volume restricted to the lower extremities, whereas one patient had predominantly upper extremity affection. They were studied with magnetic resonance imaging (MRI), EEG, EMG, a neuropsychological test battery, and chromosome analysis. Results – Four of them had clear evidence of migrational brain disorders, demonstrated by MRI, in three of them roughly corresponding to the focal epileptiform EEG activity. Five of the patients had partial seizures, whereas one only had generalized tonic-clonic seizures. The MRI findings included polymicrogyria, pachygyria, and fused schizencephaly. Four had neurogenic EMG changes, one had myopathic EMG features, and one had an unremarkable EMG pattern in affected muscles. All patients witL demonstrable migrational disorders showed abnormal neuropsychological features. Three patients were mentally retarded. A chromosome abnormality in the form of a ring chromosome 18 was present in one patient. Conclusion – We suggest that AMC, epileptic seizures, and migrational brain disorders may form the integral parts of a hitherto undescribed syndrome in adults. A wide-spread defect in neuronal migration along the entire neural axis may be the underlying mechanism of the cerebral and the peripheral symptoms.     

Aplasia cutis congenita of the scalp with large underlying skull defect: a case report

Localised agenesis of the scalp is the most frequent patern in aplasia cutis congenita (ACC), a congenital absence of the skin and occasionally of deeper layers. Several clinical groups are characterised by the location and pattern of skin defects, associated malformations and the mode of inheritance. Death occurs in 20% of cases, secondary to the associated anomalies, to infections or to haemorrhage from ulceration of the sagittal sinus when there is also a defect of the underlying skull. In this latter case, we close the defect by two rotational scalp flaps (Orticochea technique) at birth. A three-dimensional CT study is useful for showing the extent of the skull defect and the deformity of the craniofacial complex and the changes in the bone after treatment.     

Dyskeratosis congenita: Unusual onset with isolated neutropenia at an early age

A 3.5 year old male patient with dyskeratosis congenita (DC) presented at the age of 13 months with isolated neutropenia preceding characteristic skin findings. The average absolute neutrophil count of 500/mm³ persisted without the presence of anemia or thrombocytopenia during the follow up. Neutropenia responded to granulocyte-colony stimulating factor (G-CSF) at a dose of 10 μg/kg per day. Immunologic findings were normal as was the chromosomal stability and sister chromatid exchange.     

脑肿瘤中p53基因突变的分析

检测２５例脑肿瘤中抑制癌基因Ｐ５３突变情况。突用复合ＰＣＲ，聚合酶链反应－＝单链构象多态性分析法，统计学处理采用Ｘ＾２检验。结果：Ｐ５３基因总的突变率为４４．０％，其中第５外显子突变率为２８．０％，第６外显子突变率１２．０％，第７外显子突变率为１２．０％，第８外显子突变率１６．０％；病理分级Ⅱ级及其以上突变为７２．７％，     

An atypical case of mononeuritis multiplex in primary Sjogren's syndrome

We present an atypical case of peripheral nervous system (PNS) involvement in Sjogren's syndrome in a 63 year-old woman. Symptoms of an entrapment neuropathy were the first manifestation of the systemic disease and they were subsequently coupled to those of a mononeuritis multiplex. Clinical and laboratory signs for the diagnosis of Sjogren's syndrome became subsequently overt. The mononeuritis multiplex remained clinically limited to the upper limbs and characterized by unusually severe motor symptoms which progressed up to the development of a final complete deplegia. By contrast, sensory symptoms at the upper limbs remained mild over the entire course of the disease and the lower limbs revealed a subclinical sensory-motor damage only during the late stage.