巨颅伴皮层下海绵样囊肿性脑白质病

巨额伴皮层下海绵样囊肿性脑白质病是近年来被认识的一种新的儿童脑白质病。这种脑白质病患者出生时头围增大，神经发育基本正常或接近正常，随后逐渐出现缓慢进展性运动功能恶化和走路不稳、共济失调、肢体痉挛和瘫痪，而智能损伤相对较轻。大多数患者可有惊厥发作但对抗惊厥治疗反应良好。除脑电图上可有痫样放电外，其他电生理检查基本正常或轻度异常。在影像学上所有患儿的脑白质均受累，早期的磁共振成像显示脑组织水肿，特别是额叶、颞叶及顶叶的前部十分明显。后期脑皮层下出现囊肿样变化。病理学显示这些囊肿样结构主要是单一五 层膜结构所构成的髓鞘板层覆囊的空泡。目前已知的和常见的遗传代谢物筛查在该病患者中无阳性发现。该病是一种常染色体隐性遗传病，位于22q^tel上的KIAA0027基因被认为是该病的致病基因。     

Hypertrophic olivary degeneration: case report in a child

We report a case of hypertrophic olivary degeneration (HOD) detected by MRI, in a 14-year-old girl, 13 months after surgical excision of a brainstem cavernous malformation. As in vivo diagnosis of this condition has only become possible with the advent of MRI, the number of reported cases remains relatively small and they are almost exclusively in adults. Many radiologists and particularly paediatric radiologists, may therefore be unfamiliar with this entity. To our knowledge, this is the first specific report of HOD diagnosed by MRI in a child. Received: 5 November 1997 Accepted: 15 May 1998     

Early cord degeneration in bifocal SCIWORA: a case report

We report the MR features of very early spinal cord degeneration in a 2-year-old boy who had bifocal cord injury and normal plain films. Received: 1 August 1997 Accepted: 29 October 1997     

Circulating interferon-gamma and white matter brain damage in preterm infants

The fetal inflammatory response has been suggested as causal in neonatal morbidity. Serial levels of circulating cytokines were evaluated in 74 infants with a mean gestational age (GA) of 27.1 wk. Pro-inflammatory [tumor necrosis factor-alpha (TNF-alpha), interferon-gamma (IFN-gamma), IL-1 beta, IL-2, IL-6, IL-8, IL-12] [corrected] and modulatory (IL-4, IL-10) cytokines were analyzed from cord blood, and at 6, 24 [corrected] and 72 h postnatal age. Measure of cytokine burden over time was assessed by calculating the area under curve (AUC) for analyzed levels (0-72 h). Premature rupture of membranes (PROM) was associated with higher levels of IL-2 at birth and at 6 h, of IFN-gamma at 6 and 24 h postnatal age and of TNF-alpha at 6 and 24 h. Levels of IFN-gamma at 6, 24, and 72 h were increased in infants developing white matter brain damage (WMD) compared with those without WMD. Infants with arterial hypotension requiring dopamine treatment had an increase in IL-6 with a peak at 6 h of age. Severe intraventricular hemorrhage (IVH) was associated with increase in AUC [(IL-6) and (IL-8), odds ratio (OR) 2.8 and 13.2 respectively], whereas white matter brain damage (WMD) [corrected] was associated with increase in AUC (IFN-gamma; OR, 26.0) [corrected] A fetal immune response with increased postnatal levels of IFN-gamma was associated with development of WMD. PROM was associated with a T-helper 1 cytokine response with increased levels of IFN-gamma. Type of inflammatory response appears of importance for subsequent morbidity.     

Incidence of focal white matter lesions in a population of hemophiliac children and their normal siblings

Objective. This analysis was undertaken to evaluate the etiology and sequelae of 2- to 5-mm focal white matter hyperintensities on T2-weighted MR images of some participants enrolled in the Hemophilia Growth and Development Study (HGDS).¶Materials and methods. The HGDS is a multicenter study of the growth and development, neurological, neuropsychological, and immune functioning of a cohort of children and adolescents, 62 % of whom were infected with HIV through the use of clotting factor concentrates, and their non-hemophiliac, non-HIV infected male siblings. The current investigation was conducted with all three groups of HGDS participants: HIV-positive hemophiliacs (n = 207), HIV-negative hemophiliacs (n = 126), and their siblings (n = 47). Magnetic resonance imaging was performed at each center, with a variety of 0.3 to 1.5 T instruments. Standard examinations included 5-mm-thick T1-weighted sagittal and axial images, intermediate, and T2-weighted axial images. A study of abnormalities of the coagulation system known to be associated with thrombotic events was conducted among a subgroup of participants (n = 51) from eight centers.¶Results. Lesions were not associated with hemophilia-related factors, immune function, hematologic, or neurologic factors. There were no associations between the presence of white matter lesions and defects of coagulation in any of the assays completed.¶Conclusion. The 2- to 5-mm focal white matter hyperintensities on T2-weighted MR images of the brain were incidental findings in our study population.     

Inherited multicentric osteolysis: case report of three siblings treated with bisphosphonate

Inherited Multicentric Osteolysis (IMO) is an uncommon familial condition of idiopathic pathophysiology causing bone osteolysis and dysplasia. These patients present with common rheumatologic complaints of pain, dysfunction and disability, and are often initially misdiagnosed as a chronic rheumatic disease of childhood such as juvenile idiopathic arthritis. We report a case of three siblings diagnosed with IMO. Diagnosis was made during childhood, with each sibling having different manifestations and course of disease. One had a previous history of bilateral hip dysplasia. Two had osteolysis of the foot, distal tibia and femur (lower limb bones), whilst one had osteolysis of the rib and unusual clavicular fractures. Unusually, all siblings appear to experience decreased pain sensation compared to norms. All siblings were treated with bisphosphonates and experienced a rapid improvement in pain symptoms, decreased analgesic requirements. Two had bone mineral density testing performed and both had increases post-bisphosphonate. In all three, there was subjective evidence of stabilisation of bone disease. Testing for matrix metalloproteinase-2 (MMP2) gene was negative.     

Transient erythroblastopenia of childhood in siblings: case report and review of the literature

Transient erythroblastopenia of childhood is characterized by anemia due to decreased production of red blood cell precursors. It is almost always self-resolving and requires clinical intervention only in severe cases. This article describes 2 cases in half-siblings diagnosed approximately 10 years apart. A review of the literature identifies 11 other sibling pairs. Our case suggests an autosomal dominant pattern of inheritance. To date, the gene involved in the development of transient erythroblastopenia of childhood has not been identified.     

新生大鼠脑白质损害时神经细胞凋亡及bcl-2蛋白的表达变化

目的：研究表明脑白质损害与少突胶质前体细胞凋亡密切相关,bcl-2蛋白作为抗凋亡蛋白与新生大鼠脑白质损害(WMD)的关系较少报道。该文探讨bcl-2蛋白在新生大鼠脑白质损害(WMD)时的表达变化及意义。方法：将2日龄SD大鼠(n=90),随机分为两组,实验组(缺氧缺血)45只,对照组(假手术)45只,制成WMD模型;采用TUNEL法测定神经细胞凋亡及免疫组化（SP）法检测bcl-2蛋白在脑室周围白质区不同时间点的表达变化。结果：成功建立了WMD模型。实验组神经细胞凋亡在缺氧缺血后3 d达到高峰,凋亡指数脑白质为37.40±4.26,胼胝体为29.84±1.11,与对照组比较,在4 h,12 h,24 h,3 d,7 d 有统计学意义（P<0.05）。实验组bcl-2蛋白表达在WMD后1 h就上升,12 h达高峰,平均灰度值脑白质为124.96±0.27,胼胝体为130.09±0.77),在1 h,4 h,12 h,24 h,3 d的表达与对照组相比,差异有统计学意义（P<0.05）。结论： 新生大鼠脑白质损害时,bcl-2蛋白早期表达增高,而神经细胞凋亡高峰滞后,二者具有明显时序性,这种时序变化提示bcl-2蛋白可能对神经细胞具有一定保护作用。［中国当代儿科杂志,2007,9（2）：164-168］