先天性胆脂瘤的MRI诊断

目的：探讨MRI对先天性胆脂瘤的诊断价值。方珐：回顾性分析7例经手术病理证实的先天性胆脂瘤的MRI表现，7例均为脑外型，其中6例胆脂瘤位于桥小脑角区，l例胆脂瘤位于脊髓内．结果：先天性胆脂瘤的绝大多数MRI表现为T1WI呈低信号,T2WI呈高信号，信号欠均匀，且病灶具有“见缝就钻”的特点。增强扫描，病灶无强化，但如合并感染可有轻度强化。结论：MRI的表现及特殊序列FLAIR、SPIR像的相互补充应用对先天性胆脂瘤的诊断及鉴别诊断具有重要意义。     

142例先天性智能发育不全患儿的遗传学研究

应用细胞遗传学和皮纹分析方法对142例先天性智能发育不全患儿进行了研究。其中,120例正常核型,22例异常核型。异常核型46,XY,t(1;3;21)(1pter→1q32.1∶∶21p11.2→21qter;3 qter→3p26.2∶∶1 q32.1→1 qter)和45,X/45,X,-22,+der(22)t(Y;22)(22qter→22p11.1∶∶Yq11.1→Yq11.2)两种核型国内尚未见报道。皮纹分析结果表明56.7%的患者有1项以上异常皮纹;染色体异常患者均有2项以上异常皮纹;先天愚型患者有“特定”的皮纹改变。     

The bipartite tarsal navicular bone: Radiographic and computed tomography findings

Two cases of bipartite tarsal navicular bone are presented. The radiographic and computed tomography (CT) findings of this anatomical variant are described. Correct recognition of this entity is important, both because it may be the cause of symptoms perse, and because it may be misdiagnosed as a fracture. When plain films are not diagnostic, CT scanning is helpful in distinguishing between a fracture and this variant.     

婴儿先天性胆总管囊肿16例诊治分析

１９８５￣１９９４年作者单位共收治小儿先天性胆总管囊肿１０５例，其中年龄小于１２个月者１６例，占１５．２％，本病临床表现不典型，易延误诊治，超声检查可在产前检出本病，作者认为对于待续性黄疸的婴儿，保守治疗不宜时间过长，应积极手术探查。     

Interatrial septum rupture during balloon measurement of a patent foramen ovale in a young patient presenting cryptogenic stroke.

We report the case of a 36-year-old woman admitted for cryptogenic stroke, in whom the Patent Foramen Ovale (PFO) diameter measurement, with a purpose built sizing balloon, performed before the closure procedure, was complicated with the rupture of the inter-atrial septum generating an Atrial Septal Defect (ASD) with a significant left-to-right shunt. This kind of complication may not be easy to handle, changing the initial procedural strategy from PFO to ASD closure technique requiring specific material and operator's technical skill.     

改良Norwood手术临床应用

目的总结改良Norwood手术的临床应用经验。方法2004年7月和2005年3月分别为1例7月龄单心室伴左心室流出道梗阻女婴,采用主肺动脉和主动脉弓下缘直接吻合、主动脉肺动脉人工血管分流完成改良Norwood手术;1例出生13 d左心发育不良综合征新生儿,采用主肺动脉和主动脉弓下缘直接吻合、右心室肺动脉人工血管分流完成改良Norwood手术。结果例1术后平稳,动脉压为85～100/25～40mmHg（1 mm Hg=0．133kPa）,动脉血氧饱和度为0．75～0．85,术后第3d撤离辅助呼吸,第11 d出院。例2术后平稳,动脉压为65～80／40～60mmHg,动脉血氧饱和度为0．67～0．89,术后第12 d撤离辅助呼吸,第28 d出院。结论改良Norwood手术的先进方法和技术,值得在我国推广应用。     

A case of congenital supratentorial tumor: Atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor?

Two embryonal CNS tumors, atypical teratoid/rabdoid tumor (AT/RT) and primitive neuroectodermal tumor (PNET), may be confused with each other and misdiagnosed. Here we report an infant with a congenital supratentorial tumor, which was detected by fetal MRI at 37 weeks gestation. On routine histological examination, the tumor was composed mainly of small undifferentiated cells, among which many rhabdoid cells and occasional sickle‐shaped embracing cells were observed. No mesenchymal or epithelial areas were evident. Our impression was that the tumor was an atypical example of AT/RT. Immunohistochemically, almost all the tumor cells were strongly positive for vimentin. However, epithelial membrane antigen was notably negative, and most of the tumor cell nuclei were clearly positive for INI1. In addition, many tumor cells were positive for neurofilament protein. There were also occasional small areas containing many tumor cells positive for glial fibrillary acidic protein. Finally, a diagnosis of PNET, with a rhabdoid phenotype and expression of neuronal and glial markers, was made. In the present case, application of INI1 immunostaining was very helpful for distinguishing PNET from AT/RT.     

Urinary 17α-hydroxyprogesterone in management of 21 -hydroxylase deficiency

Objectives: The study was designed to assess the reliability of measurement of 24-hour urinary 17α-hydroxyprogesterone (17-OHP) by radio-immunoassay (RIA) as an alternative biochemical assessment for monitoring the treatment of congenital adrenal hyperplasia (CAH) due to 21 -hydroxylase deficiency (21 -OHD) and to assess the need for sample purification by column chromatography to improve assay specificity.
Methodology: Morning serum 17-OHP was measured using RIA and 24-hour urinary pregnanetriol using gas chromatography. Twenty-four-hour urinary 17-OHP was measured in samples from 17 prepubertal patients with CAH due to 21 -OHD, and 20 normal prepubertal children as controls. In 24 urine samples, RIA of 17-OHP was performed with and without column chromatography.
Results: There was a good correlation between 24-hour urinary 17-OHP and 24-hour urinary pregnanetriol (r = 0.962, P <0.01) and between 24-hour urinary 17-OHP and morning serum 17-OHP ( r = 0.955, P <0.01). There was no significant difference in the RIA of the urine samples with and without purification by column chromatography.
Conclusions: The measurement of 24-hour urinary 17-OHP is a reliable alternative for the biochemical monitoring of 21-OHD, and RIA specificity is unaffected by omission of column chromatography.     

Osteoporosis in severe congenital neutropenia treated with granulocyte colony-stimulating factor

Recombinant human granulocyte colony-stimulating factor (G-CSF) has substantially improved life expectancy for children with severe congenital neutropenia (SCN). Severe osteoporosis, reported in this population, may relate to the disease process, or be a therapeutic side-effect. This report details bone loss, quantitated absorptiometrically and histomorphometrically, in a child with SCN and vertebral collapse, and the positive response to anabolic steroid and bisphosphonate therapy.     

The dysmorphic lung: imaging findings

Congenital lung malformations are not infrequent and can be discovered in adults. It is, therefore, necessary to know their radiological manifestations in order to avoid diagnostic errors. We classify the congenital lung malformations in two main groups: dysmorphic lung and focal pulmonary malformations. We review the radiological spectrum of dysmorphic lung, based on a classification that emphasises the pulmonary abnormality, adding variants when diaphragmatic or venous abnormalities are present. In our opinion this approach allows for a rational use of advanced imaging techniques (CT, MRI). Correspondence to: Josep M. Mata.