Intra-anal intussusception: diagnosis by posteroanterior stress proctography

Intra-anal intussusception was diagnosed in eight of 39 patients on evacuation proctography. Posteroanterior views revealed prolapse of the infolded rectum into the anal canal on straining in seven of eight patients, associated with splaying open of the anal canal and sudden distal movement of the fold during prolapse. Similar changes were seen in four of 31 patients in whom intussusception had not been diagnosed on lateral evacuation proctography. The pattern of the collapsed rectum was assessed for fold length, thickness, and angulation in relation to the midline of the rectum. Infoldings that prolapsed were closer to the anorectal junction on stress (mean 14.6 42.4 mm, p < 0.0001) showed greater change in height between rest and strain (28.8 14.6 mm, p < 0.05) and became more acutely angled during straining (41.9 5.3°, p < 0.01). Intra-anal intussusception may be missed in 33% (four of 12 patients) on routine evacuation proctography. Posteroanterior stress proctography is a simple supplementary examination to validate intussusception.     

Case-control study of congenital malformations

To determine potentially teratogenic influencies in Belgrade, a group of 113 mothers who gave birth to severely malformed infants and a control group of 195 mothers with normal infants were interviewed using a structured questionnaire.Statistically significant differences between the two groups were found in the mother's family history of congenital malformations (P < 0.05) and the mother's diseases during the pregnancy (P < 0.01). Infections in the first trimester were particularly more prevalent in case mothers (OR = 7.70; P < 0.01). Mothers did not differ significantly according to exposure to organic solvents, supportive therapy during the pregnancy, use of oral contraceptives, or other personal habits.Corresponding author.     

Craniocervical junction malformation treated by transoral approach. A survey of 25 cases with emphasis on postoperative instability and outcome

Summary An experience with 25 consecutive cases of craniocervical junction (CCJ) malformations operated upon via the transoral route is reported. Twenty-two patients also underwent posterior occipitocervical stabilization with alloplastic material and in only one patient was transoral odontoidectomy and fusion with bone autograph performed.Indication for the transoral route consisted of an irreducible ventral compression of the cervicobulbar junction by the abnormal bone complex.Two patients died during the early postoperative period and the remaining 23 survivors were followed for an average of 3.5 years: 17 of these showed marked improvement and 5 a stabilization of the neurological disturbances. A further patient, who refused posterior stabilization, eventually died because of progressive cranial settling.Long-term results have shown this approach to be decisive in the surgical management of well-selected CCJ anomalies.     

Dandy-Walker malformation: analysis of 38 cases

Thirty-eight cases of Dandy-Walker malformation (DWM) are presented. A female predominance of 3:1 was found. Thirty-two cases (84%) were diagnosed within the 1st year of life. Of these, 17 cases (44.7%) were diagnosed at birth. Ten (26%) were delivered by cesarean section. Thirteen infants (34%) had a birth weight below 3000 g. Several associated malformations were observed, the most frequent being capillary angioma (6 case); cardiac malformations, ophthalmic anomalies, agenesis of the corpus callosum, malformed limbs, and occipital meningocele were also seen. These observations indicate that DWM represents a disorder of the midline central nervous system indicative of marked genetic and etiologic heterogeneity with the possibility of showing clinical and pathological alterations intra-and extracranially. Macrocephaly was the most frequent physical finding, appearing in 31 cases (82%). Seventeen (44.7%) patients died, 11 before 6 months of age, 3 between 6 and 12 months, and 3 after 1 year. Postmortem studies were performed in 13 patients. Three cases have been lost to follow-up. Mental retardation (IQ below 70) was found in 11 cases (58% of survivors), low intellect (IQ between 70 and 85) in 4, and only 2 patients showed normal intellectual development (IQ more than 85). The high incidence of malformations having several genetic and environmental origins, as well as the high early mortality of patients with DWM, indicate the complexity of this syndrome, which involves the midline developmental field structures. It is not an isolated malformation of the posterior fossa in most cases.     

The natural history of familial cerebral cavernomas: a retrospective MRI study of 40 patients

Our objective was to determine the natural history and prognostic factors of familial forms of cerebral cavernous malformations (CCM). Cavernomas are one of the most common central nervous system vascular malformations. Familial CCM is increasingly diagnosed, but little is known about its natural history. In a national survey, we analysed clinical and MRI features of 173 patients from 57 unrelated French families. Of these 40 had undergone at least two clinical and MRI examinations. Occurrence of haemorrhage, new lesions, change in signal intensity and size of lesions have been studied by comparison between first and last MRI studies. The CCM were classified according to Zabramski et al. Mean follow-up was 3.2 years (range 0.5–6.5 years). We followed 232 cavernomas (mean 5.9 per patient, range 1–17). Serial MRI demonstrated changes in 28 patients (70 %). Bleeding occurred in 21 lesions (9.1 %) in 14 patients (35 %). The haemorrhagic risk was 2.5 % per lesion-year, higher in type I and brain-stem CCM. We saw 23 new lesions appear in 11 patients (27.5 %), with an incidence of 0.2 lesions per patient year. Signal change was observed in 11 patients (27.5 %), in 14 lesions (6 %), while 9 lesions (3.9 %) in 9 patients (22.5 %) changed significantly in size. Received: 20 May 1999/Accepted: 1 September 1999     

Accessory scrotum with imperforate anus

Accessory scrotum is the rarest anomaly of the scrotum; less than two dozen cases have been reported. A case of accessory scrotum with imperforate anus is reported.     

DNA Fragmentation in Central Nervous System Vascular Malformations

Recent studies have shown that apoptosis plays an important role in vascular remodeling. We examined central nervous system vascular malformations for the presence of DNA fragmentation which is the evidence of apoptosis. We hypothesize that vascular remodeling through apoptosis may be responsible for recurrence or hemorrhage in these lesions. We examined the specimens of central nervous system vascular malformations by in situ end labeling (ISEL) of fragmented DNA. Moreover, we examined the expression of Caspase-3 which is apoptosis-related proteins in these lesions by immunohistochemistry. DNA fragmentation was observed in all 15 arteriovenous malformation (AVM) specimens. ISEL-positive cells were mainly distributed in the endothelium, media and perivascular tissue. In cavernous hemangioma (CH), DNA fragmentation was also observed in all 5 specimens. ISEL-positive cells were distributed in the endothelium, subendothelium and intercavernous matrix. Thirteen out of 15 AVM lesions stained positive for Caspase-3. Caspase-3 immunoreactivity was mainly distributed in the endothelium, media and perivascular tissue. This distribution was similar to that of ISEL positive cells. As for CHs, all 5 lesions stained positive for Caspase-3. Caspase-3 immunoreactivity was distributed in the endothelium, subendothelium and intercavernous matrix. Our findings indicate that apoptotic cell death and vascular remodeling play a role in the development and maintenance of vascular malformations.     

血管内介入诊疗技术在脑动静脉畸形中的应用

目的　探讨血管内介入诊疗技术在脑动静脉畸形诊疗中的价值。方法　回顾性分析 98例脑动静脉畸形的血管内介入诊疗资料。结果　DSA能明确诊断 ,显示供血动脉、畸形血管团及引流静脉的情况。 5 2例栓塞治疗的技术成功率为 1 0 0 %,单纯真丝线段栓塞 36例 ,真丝线段和α-氰基丙烯酸正丁酯 (NBCA)联合栓塞 1 6例。栓塞程度 :畸形血管团完全消失者 1 2例 ,畸形血管团减少 75 %以上者 2 1例 ,畸形血管团减少在 5 0 %～ 75 %者 1 1例 ,畸形血管团缩小不足 5 0 %者 8例。结论　DSA检查是脑动静脉畸形合理而可靠的诊断方法 ,有利于估计其预后并制订治疗方案 ,血管内栓塞治疗是其安全有效的治疗手段。     

平阳霉素治疗97例婴幼儿颌面部脉管畸形的临床分析

目的:探求平阳霉素治疗婴幼儿颌面部脉管畸形的疗效。方法:筛选出婴幼儿颌面部脉管畸形的患者97例;平阳霉素8 mg,用2%利多卡因4 m l稀释,术前5 m in给予地塞米松2 mg肌注,行脉管畸形内注射。结果:采用平阳霉素注射后追踪观察1~3年,其中优58例(59.8%)、好25例(25.8%)、中10例(10.3%)、差4例(4.1%),4例出现过敏反应。结论:采用平阳霉素注射婴幼儿颌面部脉管畸形疗效确切,尤其是静脉畸形和大囊型淋巴管畸形效果最好,术中应注意药物过敏反应。     

后颅窝扩大成形术治疗Arnold-Chiari畸形合并脊髓空洞症的临床研究

目的研究Arnold—Chiari畸形合并脊髓空洞症显微外科手术中后颅窝底及寰椎后弓切除对脑组织和寰枕部稳定性的影响及钛网后颅窝扩大成形术对保持后颅窝结构、功能稳定的临床应用。方法对12例Arnold—Chiari畸形钛网后颅窝及寰椎后弓扩大成形患者与156例未成型患者的术后临床症状、枕颈部的稳定性及生活质量进行对照。结果12例扩大成型患者术后临床症状不明显,生活质量高;而未成型者多有头痛、头晕、枕颈交界部不适等症状以及惧怕枕颈部遭受外力的恐惧心理。结论钛网后颅窝及环椎后弓扩大成形术可相对维持后颅窝的生理结构,减少患者的临床症状,提高生活质量。