Terminal myelocystocele

Terminal myelocystocele is an unusual form of occult spinal dysraphism. It consists of a cystic dilatation of a low-lying terminal cord hemiated posteriorly through a skin covered lumbosacral spina bifida. This condition is often associated with OEIS complex i.e. opmphalocele, exstrophy of the bladder, imperforate anus and spinal abnormality. We studied 4 cases of terminal myelocystocele. They revealed no preoperative neurological deficit. None of these had associated OEIS complex. One of the cyst was unique due to presence of copious amount of pus in its cavity. All four cases underwent successful repair and surgery remained uneventful in all of them. No child showed neurological deterioration during the follow-up.     

Terminal Myelocystocele:an unusual presentation

Terminal myelocystocele is an unusual form of occult spinal dysraphism. It consists of a cystic dilatation of a low-lying terminal cord herniated posteriorly through a skin-covered lumbosacral spina bifida. An arachnoid-lined meningocele, continuous with the spinal subarachnoid space, is traversed by the hydromyelic cord. Clinically, this presents with a skin-covered lumbosacral mass, but often no neurological deficit is present. We present a case of terminal myelocystocele in a child born without deficit and without an obvious back mass. Diagnosis was delayed until sphincter disturbance and lower limb inequalities developed. We discuss the presentation, imaging and operative findings in this case.     

Thoracic meningocele, meningomyelocele or myelocystocele? Diagnostic difficulties, consequent implications and treatment

Spina bifida cystica is a closing disorder of the neural tube which infrequently occurs in the thoracic region. A rare lesion called myelocystocele is a variant of spina bifida cystica and is associated with syringomyelia, Chiari type 2 malformation and hydrocephalus. Usually the patient has no neurological deficit, but future deterioration can occur due to posterior tethering of the spinal cord by adhesions. The prenatal diagnosis by ultrasound study can be misleading and in order to attain the correct diagnosis, especially if abortion is considered, a prenatal MRI scan should be done before the parents are counselled, and should be repeated prior to operative treatment. Surgical correction of myelocystocele is not only for cosmetic reasons, but also to untether the spinal cord prophylactically to prevent future neurological deterioration. In this case report, we present a child born with a thoracic myelocystocele, the diagnostic difficulties, consequent implications and surgical treatment.     

Terminal hemimyelocystocele associated with Chiari II malformation

Terminal myelocystocele (TMC) results from failure of embryonic CSF to drain outside the neural tube creating CSF reservoir within a dorsal meningocele. Association of Chiari II malformation with diastematomyelia and myelocystocele is extremely rare. Myelocystoceles do not have neural tissue so they have good prognosis after treatment, however when associated with hydromelia and Chiari malformation they present with neurological deficits. We present details of a 2 year old female who presented to us with this rare anomaly.     

Giant terminal lipomyelocystocele

Terminal myelocystocele is a rare form of occult spinal dysraphism in which the hydromyelic caudal spinal cord and the subarachnoid space are herniated through a posterior spina bifida. A 1-year-old female child presented with a large lumbosacral mass (30 x 20 x 10 cm), flaccid paraplegia and urinary incontinence since birth. Magnetic resonance imaging revealed a low-lying conus (with associated conus lipoma) and a dilated central canal surrounded by a meningocele suggestive of terminal lipomyelocystocele and was operated on successfully. In our experience, this was a giant terminal lipomyelocystocele and such a large lesion has not been reported in the literature before. Terminal myelocystocele should be included in the differential diagnosis of congenital lesions presenting as a lumbosacral mass and operated early.     

Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex

Omphalocele-exstrophy of the bladder (cloaca)-imperforate anus-spinal defects (OEIS) complex describes a rare grouping of more commonly occurring component malformations. We report two cases of OEIS complex diagnosed prenatally by ultrasound and magnetic resonance imaging (MRI). In both cases, OEIS complex was suspected by conventional sonography in the second trimester, and fetal MRI was performed at 27 and 32 weeks of gestation. Conventional sonography revealed low abdominal wall mass, spina bifida, absent bladder and ambiguous genitalia, but those findings were inconclusive. Using fetal MRI, we were able to detect omphalocele, imfraumbilical mass connected to gut tract, absent bladder, ambiguous external genitalia and spinal defect. Our findings suggest that fetal MRI is a useful tool for prenatal diagnosis of OEIS complex. MRI helps prenatal counseling and planning of postnatal early treatment strategy.     

Long-term outcome of terminal myelocystocele patients

INTRODUCTION: A terminal myelocystocele, a closed form of a neural tube defect (NTD), can present as a large, fully epithelialized, cystic lumbosacral mass containing fat, cerebrospinal fluid (CSF) and neural tissue. The spinal cord terminates at a neural placode wherein the central canal opens into a CSF-filled cavity that is distinct from fluid in the subarachnoid space surrounding the spinal cord. This form of NTD, in our experience, was only associated with major caudal cell mass abnormalities, as these patients often have maldevelopment of the lower spine, pelvis, genitalia, bowel, bladder, kidney and the abdominal wall. This study will describe the clinical manifestations, surgical management and long-term outcome of our terminal myelocystocele patients. METHODS: To characterize this rare entity, a 13-year retrospective review was undertaken at our institution. RESULTS: Nine patients with terminal myelocystoceles were identified. In all cases, there were multiple congenital defects including cloacal exstrophy, imperforate anus, omphalocele, pelvic deformity, equinovarus or renal abnormality. Only 1 out of 9 patients has required a shunt for hydrocephalus. The main goal of neurosurgical intervention was to reduce the size of the mass, which can slowly enlarge over time. The spinal cord was also untethered, although these patients have no chance of bowel or bladder control. With a mean follow-up of 63 months, all patients remained neurologically stable. Impairment of lower extremity function is usually severe. However, some patients were ambulatory with the aid of a walker or orthotic device. All patients required a prolonged hospital stay as well as multiple operations prior to initial discharge. CONCLUSION: Experienced, multispecialty care is needed to optimize the long-term outcome of these complex patients.     

A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst

We report here a rare case of caudal regression syndrome associated with an intraspinal arachnoid cyst. The patient was a 6-month-old baby girl with multicomplex congenital abnormalities: sacrococcygeal dysgenesis and ventral curvature, large terminal cyst (myelocystocele), spinal arachnoid cyst, cerebellar hypertrophy (suspected), high imperforate anus, partial dysgenesis of the large intestine, omphalocele, atresia of the vagina, bilateral incomplete ureter duplication, incomplete pseudoduplicated bladder and bilateral talipes equinovarus. We performed plastic repair of the myelocystocele and perineal lesion for caudal regression syndrome and partial removal of the cyst wall for the intraspinal arachnoid cyst. She has been well for 3 years postoperatively, and her mental development is normal.     

A genetic model for cloacal exstrophy, the extreme cloacal malformation

Cloacal exstrophy (CE) or vesicointestinal fissure is an uncommon but well known anomaly that represents the extreme cloacal malformation. It is most often seen as an isolated anomaly, or as part of the OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Limb anomalies are also seen with CE. Unlike the OEIS complex, limb anomalies occur as independent malformations. Here, we present two cases of CE with limb anomalies that are consistent with the phenotype seen in Disorganization (Ds), an unusual human malformation syndrome. From reviewing the mouse model, it may be that the Ds gene is a candidate for isolated CE as well.     

Impact of spinal dysraphism on urinary and faecal prognosis in 25 cases of cloacal malformation

ObjectiveUrinary and faecal continence are key challenges goal of cloacal malformation management. Most well-known prognostic factors are the length of common channel (CC) and the presence of a sacral defect, but the impact of associated spinal dysraphism is less well documented. The aim of this study was to investigate the impact of different types of dysraphism on urinary and faecal continence in this patient population.Materials and methodsFrom 1991 to 2011, charts and office notes of 25 patients with cloacal malformation were retrospectively reviewed. At last clinic visit, urinary and faecal continence status according to Krickenbeck criteria were correlated with the length of CC, the presence of a sacral defect (sacral ratio), and the presence of different types of spinal cord dysraphism using magnetic resonance imaging (MRI) and Fisher's exact test.ResultsMean follow-up was 8 years (4 months–21 years). The sacral ratio was abnormal (below 0.74) in 18 cases out of 25 (72%). MRI review showed normal spinal cord in eight out of 23 cases (Group 1), spinal cord anomaly in 15 out of 23 cases (65%) including nine cases of tethered cord complex (Group 2) and six cases of a short spinal cord (Group 3). While statistical analysis showed a difference regarding urinary prognosis between the groups (p = 0.005), no significant difference was found regarding faecal prognosis. None of the six patients with short spinal cord were continent for both urinary and faecal prognosis.ConclusionsThis is the first study, which highlights the impact of different types of spinal dysraphism on functional outcome in patients with cloaca. Short spinal cord seemed to carry the worst prognosis. A prospective study with a larger series is mandatory to confirm these preliminary results.     

Rachipagus parasite associated with myelocystocele and diastematomyelia

A case of parasitic rachipagus associated with myelocystocele, diastematomyelia and teratoma is presented. The parasite was successfully removed, and the spinal canal was reconstructed using bone harvested from the parasite.     

OEIS complex with glomerulocystic kidney disease: a case report.

We present a case of OEIS complex (omphalocele, exstrophy of bladder, imperforated anus, spinal defect) combined with colonic agenesis and glomerulocystic kidney disease (GCKD). The baby was born at 35.2 weeks of gestational age, weighing 2.51 kg. A prenatal ultrasound examination showed spina bifida, hydroureter, and a unilateral polycystic kidney. The postdelivery examination, which included a physical examination, simple X-ray, and pelvic MRI, showed a lower abdominal wall defect through which a small pouch with a segment of bowel protruded, imperforated anus, ambiguous external genitalia, spina bifida with meningomyelocele at the lumbosacral junction, and nonunion of pubic symphysis. The baby underwent surgery, including nephrectomy, colostomy, and repair of the abdominal wall defect. In addition to the abnormalities mentioned, a tailgut as a result of colonic agenesis and 2 appendices were identified in the course of surgery. The result of histopathological examination confirmed the polycystic kidney identified as GCKD. These radiological, surgical, and histopathologic findings are consistent with the OEIS complex. The postoperative course was uneventful during a period of 4 months of follow up. We herein report a case of the very rare OEIS complex in a newborn male baby and review the available literature.     

脊柱侧弯合并脊髓纵裂136例的临床特征及骨嵴形态学分析

目的 探讨先天性脊柱侧弯合并脊髓纵裂骨嵴在椎管内的形态、节段、位置等形态学特点,提出新的纵裂分型方法,以期指导临床工作.方法 回顾性分析136例先天性脊柱侧弯合并脊髓纵裂患儿的临床资料以及CT、MRI等影像学检查结果.结果 Ⅰ型及Ⅱ型脊髓纵裂在胸腰段的发生率最高,腰段及胸段次之,颈段较少;Ⅰ型脊髓纵裂中椎管内骨嵴的发生节段以腰段最多,其次为胸腰段及胸段,颈段罕见.骨嵴以贯通型多见,存在腹侧型及背侧型,但数量较少.结论 先天性脊柱侧弯患者常合并脊髓纵裂畸形,完善术前CT及MRI等影像学检查有助于更好地了解脊髓纵裂及骨嵴的形态特点,根据骨嵴在椎管内背侧、腹侧或是否贯通进行分类,对脊髓纵裂的病情评估及手术方法 的选择有一定的指导意义.     

小儿颈椎及颈脊髓损伤

目的 总结小儿颈椎及颈脊髓损伤的诊断治疗经验。方法 回顾分析４７例小儿颈椎及颈脊髓损伤。男３１例,女１６例,年龄６－１４岁,平均１１．６岁。新鲜损伤１９例,陈旧性损伤２８例。其中上颈椎损伤３３例,下颈椎损伤１０例,多节段间隔性颈椎损伤１例。无Ｘ线异常的脊椎损伤３例,非手术治疗２７例,手术治疗１９例,未治１例。结果 早期死亡１例。４５例获１－１２年随访,恢复正常或接近正常者３４例,明显改善者６例,５     

SPINAL CORD DAMAGE: A RARE COMPLICATION OF PURULENT MENINGITIS

Abstract. Tal, Y., Crichton, J. U., Dunn, H. G. and Dolman, C. L. (Department of Paediatrics, University of British Columbia, Vancouver, B.C., Canada). Spinal cord damage: a rare complication of purulent meningits. Acta Paediatr Scand, 69:471, 1980.—Three cases of spinal cord damage following acute bacterial meningitis are described. Two children survived with neurological sequelae, while one died. Autopsy showed extensive spinal cord necrosis. The possible mechanisms for this rare complication are discussed and a possible connection with transient cardiorespiratory arrest is suggested.     

小儿脊髓纵裂诊疗分析

目的探讨小儿脊髓纵裂的临床特点及治疗方法。方法回顾性分析2001年1月至2011年5月作者收治的9例脊髓纵裂患儿临床资料,年龄2个月至6岁,平均年龄17个月。出现症状时间平均7个月。临床表现有背侧中线皮肤病损7例,脊柱畸形4例,下肢功能障碍及畸形4例,排尿障碍6例,排便障碍5例,下肢疼痛1例。6例术前经CT或MRI检查确诊,3例为术中发现。Pang分型：Ⅰ型6例,Ⅱ型3例。所有病例均合并终丝栓系,合并其它脊髓畸形6例,包括脊髓脊膜膨出2例,脊髓脂肪瘤3例,皮样囊肿1例。所有病例均行手术治疗,切除脊髓分隔,同时解除合并的其它脊髓栓系畸形。结果9例患儿中,5例痊愈,所有神经症状消失,3例显著改善,1例好转,无症状加重及无效病例。结论小儿脊髓纵裂多合并其它脊髓畸形,临床表现不典型。早期诊断、早期治疗是提高疗效的关键。     

中国人群神经管缺陷VANGL1基因突变的筛查及关联研究

目的 探讨VANGL1基因突变和单核苷酸多态性（SNPs）与中国人群神经管缺陷（Neural Tube Defects,NTDs）的相关性.方法 应用聚合酶链反应结合DNA测序技术,对100例NTDs患并及240例对照组的VANGL1基因进行突变筛查,并分析SNP位点是否与NTDs有关.结果 在VANGL1基因的全部8个外显子中,NTDs组及对照组均发现有错义突变c.640C〉T（P.R214W）和c.1127A〉G（P.Q376R）存在,但两组比较差异无统计学意义（P＞0.05）.在VANGL1基因的5＇和3＇端共发现4个SNPs位点存在,分别是-5046C/G、-5048A/C、54740A/G和54932A/G.-5046C/G和-5048A/C的基因型频率在两组间比较,无统计学意义（P〉0.05）;而54740A/G和54932A/G的基因型频率在两组间比较,差异有统计学意义（P〈0.05）.结论 中国人群NTDs患者的VANGL1基因中未发现有单独的基因突变存在,其转录调控区SNPs位点（54740A/G和54932A/G）与NTDs存在相关性.     

Spinal lipomatous malformations

Spinal lipomatous malformations (SLM) include all the closed neural tube defects (NTD) with excessive lipomatous tissue in the spinal cord or filum terminale. We evaluated 65 cases of SLM seen & operated at our department in the last 7 years. Of these only 9 were asymptomatic and 8 were below 2 years of age. There were more males than females. In addition to subcutaneous lipoma many patients also had hypertrichiosis and dermal sinus as cutaneous makes. Twenty patients had foot deformity and 5 had unilateral limb shortening. Sixty-two patients had MRI and 3 had CT myelogram for evaluation. These revealed 7 patients with Chiari malformations, 10 with focal syrinx and 2 patients underwent VP shunt for hydrocephalus. Sacral agenesis was seen in 5 patients. Clinical features were similar to other cases of spinal dysraphism except that sensory loss and trophic ulcer were more frequent. Intradural lipoma and tethering was seen in 18 cases whereas intramedullary lipoma & conus lipoma was seen in 40 & 7 cases respectively. Additional tethering lesion was seen in 1/3 cases and was treated simultaneously. Preoperative deficits improved in 28 cases and stabilized in 33 cases. Three patients developed fresh deficits after surgery. We observed 8 CSF leaks and 4 wound infections in postoperative period. It is very clear from our data that a patient has about 95% chances that his neurological status may improve or stabilize following surgery and the risk of developing fresh deficits is about 5%. We, therefore, suggest that all patients of SLM should be treated with aggressive surgical management for best results.     

Surgery for spinal cord lipomas

Objectives To analyze the results after surgery for spinal cord lipomas. Methods The authors report their results of management of 63 non consecutive random children with spinal cord lipomas treated over a period from 2001 to 2005, at the All India Institute of Medical Sciences, New Delhi, India, a tertiary care neurosurgical centre. Results There were 63 cases consisting of 32 (52%) conus lipomas, 14 (22%) filum lipomas, 14 (22%) lipomeningomyelocele (lipoMMC), 2 (2.5%) cases of lipomyelocystocele and one (1.5%) case of mixed lipoma. None of the patients who were asymptomatic before surgery deteriorated neurologically, irrespective of the type of lipoma till the last follow up. In those patients with preexisting neurological deficits, the improvement in motor, sensory and bladder abnormalities was only to an extent of 15%, 16% and 21% respectively. None of the children with preexisting neurological deficit regained overall normal function. Nevertheless, the improvement in symptoms after surgery made the patients lead a better social life. Only 6% of patients developed deterioration in neurological function after surgery, all of them occurring in patients already having pre-operative deficits. Conclusions The authors recommend prophylactic surgery which is safe and effective in preventing neurological deficits, irrespective of the type of lipoma. Most of the patients benefit only to some extent even after surgery, once they develop neurological dysfunction. A close long term follow up is recommended in order to detect neurological deterioration even in children operated prophylactically.