Twenty-Nail Dystrophy Associated with Hematologic Abnormalities

ABSTRACT. This report describes a 15 1/2 year old white male with twenty-nail dystrophy who has had recurrent episodes of immune thrombocytopenic purpura, autoimmune hemolytic anemia, and mild depression of immunoglobulin levels. The concurrence of these events suggests that each shares a common pathophysiologic mechanism, possibly an autoimmune process.     

Congenital Myotonic Dystrophy

ABSTRACT. Congenital myotonic dystrophy HMD) is characterized by hypotonia, facies myopathica, feeding and respiratory problems, skeletal deformities and polyhydramniosis. It is an auto-somal-dominant disorder transmitted via the mother. The diagnosis can as a role be confirmed by examining the mother, but can fail as she might be asymptomatic. During a nine year period, eight children were diagnosed as CMD which means an incidence of one case per approximately 3500 live births. The diagnosis was confirmed in six of the mothers. The two floppy infants, where positive inheritance could not be proven, showed most of the signs and symptoms described in CMD. Four children died, two from respiratory insufficiency and two suddenly and unexpectedly. CMD may be one less common cause of sudden infant death syndrome (SIDS). The four children who survived displayed delayed psychomotor development.     

进行性肌营养不良的神经电生理检测

目的探讨神经电生理检测对小儿进行性肌营养不良(PMD)的诊断价值。方法对32例PMD患儿的临床特征及实验室资料进行分析,并作针极肌电图(EMG)及神经传导(NCV)检测。观察静息状态时自发电位,测定轻收缩时运动单位电位(MUP)的时限、波幅,大力收缩时的幕集相。测定运动、感觉神经的传导速度(MCV、SCV)及动作电位的末端潜伏期(ML)、波幅(AMP)。结果PMD患儿32例自发电位的异常率为49.2%,胫前肌达80.9%,MUP时限缩短了29.7%～62.4%,大力收缩时波幅降低,与正常值比较有显著差异(P<0.01)。动作电位的ML轻度延长3.70%,AMP降低5.56%。结论神经电生理检测在PMD患儿的诊断、鉴别诊断及早期诊断中有重要意义。     

Progressive Muscular Dystrophy with Particular Reference to Muscle Regeneration

In various progressive muscular dystrophies (PMD), there were a number of fibers with histological and histochemical characteristics of regenerating fibers. With a morphometric analysis in diseased muscles, an identification of type 2C fiber on ATPase stain was the most simple and reliable method for fiber type evaluation. The type 2C fiber comprised 16.5% in Duchenne and 27.5% in Fukuyama type congenital MD, suggesting an active regenerating process taking place in both diseases. Regenerative capacity of muscle fibers after experimental damage to dystrophic chicken and mdx mouse muscles was similar to those seen in nondystrophic control muscles. From the above results, we speculate that a certain environmental factor such as interstitial fibrosis seems to play a major role in delaying regeneration in dystrophic muscles.     

Chest Reconstruction in Thoracic Dystrophy

Enlargement of the thoracic cage by splitting of the sternum and fixation with bone grafts proved a life-saving measure in a child with thoracic dystrophy and severe respiratory failure whose condition was deteriorating in spite of artificial ventilation. Supported ventilation has, however, remained necessary chiefly because of difficulty in achieving adequate stability of the thoracic cage.     

非典型性肌营养不良1例

患儿,男,3岁。因反复咳嗽2个月余,发现肝功能异常5 d入院。患儿2个月前无明显诱因下出现咳嗽,呈单声咳,无咳痰及咯血,无发热及气促。在家服用感冒药(具体用药不详)咳嗽仍时有时无。5 d前在当地就诊时发现ALT 80 U/L,1d前复查ALT 305 U/L。既往史及个人史无殊。其祖父有肝病史。     

非典型性营养不良1例

患儿，男，3岁，因反复咳嗽2个月余，发现肝功能异常5d入院，患儿2个月前无明显诱因下出现咳嗽，呈单声咳，无咳痰及咯血，无发热及气促。在家服用感冒药（具体用药不详）咳嗽仍时有时无。5d前在当地就诊时发现ALT80U/L，1d前复查ALT 305U/L。     

Progressive Muscular Dystrophy in Infancy

Clinical features of 11 cases of muscular dystrophy in infancy were discussed. From the detailed symptomatological analysis of the 11 patients we reported here, we found two subgroups of infantile muscular dystrophy. There were 6 cases of congenital cerebro-muscular dystrophy (Fukuyama) and 5 cases characterized by comparatively late onset, no sexual preference, proximally dominant muscle wasting, infrequence of associated joint contractures, normal facial muscle and no mental deficiency. The characteristics of this latter group in infantile muscular dystrophy are similar to those of limb-girdle muscular dystrophy. It is suggested that some of the patients with limb-girdle type of muscular dystrophy may have its onset in infancy.     

Progressive Muscular Dystrophy in Denmark

ABSTRACT. Prevalence of progressive muscular dystrophy in 1965 and incidence in Denmark for the period 1965 to 1975 was studied by collection of data from hospital departments, nursery homes and general practitioners. This material was supplemented with information from death certificates and disablement pension records. Total patient group included 445 patients with progressive muscular dystrophy alive January 1st 1965. Prevalence was 69.4 per 10⁶ male inhabitants in the Duchenne type, whereas the prevalences in the limb-girdle and facioscapulohumeral types were 36.5 and 18.6 per 10⁶ inhabitants, respectively. Incidence was 222 per 10⁶ male newborns in the Duchenne type, 66 and 26 per 10⁶ newborns for the limb-girdle and the facioscapulohumeral types, respectively. Figures for the Duchenne type are in agreement with previous results. Both prevalence and incidence rates for the limb-girdle and the facioscapulohumeral types exceed published figures by a factor 3 to 6. These high Danish rates seem to reflect the true prevalence and incidence in the less serious types of progressive muscular dystrophy, probably because the Danish health system with free medical care and easy access to specialized hospital departments makes it possible to identify all cases of progressive muscular dystrophy.     

新生儿危重病例评分在新生儿转运稳定性评价中的应用

目的通过应用新生儿危重病例评分评价新生儿转运的稳定性,指导转运工作,探讨安全转运的方法。方法对2002年11月至2005年10月由我院出车转回至NICU并具备完整危重病例评分资料的110例患儿,按新生儿危重病例评分法于转运前、后两次评分,分析转运稳定性及其与预后的关系。结果非危重组稳定性好,再评分值增加,(P<0.05);极危重组相对稳定,两次评分无显著性差异,(P>0.05);危重组稳定性差,再评分值下降,(P<0.05)。转运稳定性差直接影响了患儿预后。结论基层医院运用新生儿危重病例评分法不仅可作为危重新生儿的转运指征,更有助于上级医院通过评价转运稳定性指导转运工作,使新生儿转运的各个环节更加科学完善,进入良性循环。     

Duchenne型假肥大肌营养不良症患儿的主要生活事件发生规律

目的分析Duchenne型假肥大肌营养不良症(DMD)患儿主要生活事件发生时间,了解DMD进展规律及主要临床特征。方法选取临床确诊436例DMD患者(经基因检测或肌肉活检证实),详细记录患者临床资料,分析患者的主要临床特点、进展情况、智力情况。检测其血清肌酸激酶(CK)水平,并分析CK的演变规律。结果 DMD患儿就诊时年龄为(6.37±2.88)岁,病程为(4.46±3.02)a,走路无力易摔倒和上楼困难是患者就诊的主要原因。学走路月龄在18个月以上的患儿约占59.86%。96.56%的患儿小腿腓肠肌假性肥大;5～7岁DMD患儿中93.59%存在Gower’s征阳性。血清CK水平在2～5岁逐渐升高,6～7岁达到高峰,其后逐年下降,15岁时仍然明显高于健康人。结论 DMD患者病程进展遵循一定规律,一般出生时正常,然后依次出现习步延迟、上楼困难和步行一小段距离的能力衰退,直至不能行走。     

中国婴儿神经轴索营养不良患儿临床随访及分子遗传学研究

目的通过分析26例中国婴儿神经轴索营养不良(INAD)患儿的临床表型及遗传学特点,为开展该病的分子诊断及遗传咨询打下基础。方法对临床诊断的INAD患儿进行临床特点分析,并于首次就诊后10个月～8 a进行临床随访,以了解其运动认知功能进展。运动功能评估采用脑性瘫痪(脑瘫)粗大运动功能分级系统(GMFCS)中文版。PLA2G6基因突变及拷贝数异常的检测分别通过直接测序和高密度寡核苷酸比较基因组杂交芯片技术(aCGH)进行。结果 2003年9月-2011年8月共收集INAD 26例。1.表型特点:起病前智力运动发育多正常,起病年龄平均1岁3个月,均表现为快速智力运动倒退。首次就诊时平均病程1.41 a,多数已存在严重运动功能障碍,其中GMFCSⅤ级11例,Ⅳ级12例,Ⅲ级1例,Ⅱ级2例。多数患儿病理征阳性。肌电图提示神经源性损害,头颅MRI显示小脑萎缩。对23例患儿进行临床随访,随访时平均病程3.88 a,2例死亡,其余21例运动功能严重倒退,其中18例GMFCSⅤ级。2.基因型特点:23例通过测序检测到PLA2G6基因突变,其中7例仅发现1个等位基因的突变。共发现突变24种,其中12种为新突变。对于仅检测到1个等位基因突变及突变阴性的患者,通过aCGH检测未发现存在该基因拷贝数异常。结论该研究为国内最大数量的INAD病例总结,发现了12种未报道的新突变,扩大了PLA2G6基因的突变谱,为提高国内儿科医师对该病的认识及遗传咨询产前诊断奠定基础。     

Pseudohypertrophic Muscular Dystrophy with Pulmonary Valve Stenosis: An Unusual Association

A patient with pulmonary valve stenosis associated with pseudohypertrophic muscular dystrophy is reported. The anomalies were detected by two-dimensional echocardiography and elevated serum enzymes, conformed by right ventriculography and muscles biopsy. The association between these two pathologies is unknown.     

Selenium Supplementation in X-linked Muscular Dystrophy

ABSTRACT. The selenium concentrations in serum and erythrocytes and the erythrocyte glutathione peroxidase activity were determined in 15 boys with the Duchenne type and in 5 boys with the Becker type of X-linked muscular dystrophy before and during long-term selenium and α-tocopherol supplementation and compared with values in unsupplemented controls. The purpose of the treatment was to improve the muscular strength. Twelve of the 20 patients had pretreatment levels of selenium in serum that were within the 95 % confidence limit of the unsupplemented control children. The values in 2 patients, both with the Duchenne type of muscular dystrophy, fell below this level. Selenium supplementation in a daily dose of 6 μg/kg/day for 6 months caused a substantial rise in both serum and erythrocyte selenium, suggesting suboptimal pretreatment body contents of selenium. The greatest increases in both serum and erythrocyte selenium were observed in subjects with initially low selenium levels. Only in 4 of the 20 patients did the selenium supplementation result in a significant rise in erythrocyte glutathione peroxidase activity. As no sure improvement was noted in muscular strength during this treatment period, the Se dose was increased to 20 μg/kg/day. This resulted in a further rise in both serum and erythrocyte selenium, but not in erythrocyte glutathione peroxidase activity.