Human tail with noncontiguous intraspinal lipoma and spinal cord tethering: case report and embryologic discussion

Children born with a tail-like appendage have a rare malformation that is frequently associated with abnormalities of the spine and spinal cord. A contiguous fibrolipoma is usually seen extending from the subcutaneous portion of the tail into the inferior spinal cord, resulting in tethered cord syndrome. We present the case of a child born with a tail and intraspinal lipoma that were not contiguous with each other, and were separated by an intact layer of lumbosacral fascia. The tail and lipoma were removed and the spinal cord untethered, and the child is neurologically normal 2 years after surgery. The absence of a contiguous lipoma from the tail to the spinal cord suggests that this condition may be principally caused by a disorder of secondary neurulation and/or regression of the normal embryonic tail bud. The embryology of the lower spine is reviewed and possible etiologies discussed.     

Sagittal spinal alignment in patients with Legg-Calve-Perthes disease

BACKGROUND: Legg-Calve-Perthes disease (LCPD) is an avascular necrosis of the capital femoral epiphysis in children. Several studies found a pathophysiological relationship between LCPD and juvenile Scheuermann's kyphosis, suggesting an abnormal spinal condition related to osteochondrogenesis. In the present study sagittal spinal alignment of the patients with LCPD was analyzed to examine associated spinal involvement. METHODS: A standing lateral radiograph of the spine was evaluated in 78 patients who had a history of LCPD. Various parameters of sagittal spinal alignment, including thoracic kyphosis (TK), lumbar lordosis (LL), sacral inclination (SI), apex of thoracic kyphosis (TK-apex) and lumbar lordosis (LL-apex), and sagittal balance (SB; positive SB values represent a sagittal balance in front of the sacrum) were measured and compared between the patients with and without vertebral abnormalities. RESULTS: Compared to previously published normative data, relatively decreased LL was evident in LCPD. Most of the patients (65%) had negative SB, which was correlated with decreased SI, more proximal TK-apex, and more distal LL-apex. Vertebral abnormalities including end-plate irregularities and wedging vertebrae were observed in 20 patients. Decreased SI, more distal LL-apex, and more negative SB were remarkable in the patients with vertebral abnormalities. CONCLUSIONS: The patients tended to stand in greater negative sagittal balance associated with decreased LL. The characteristic sagittal alignment was prominent especially in the patients with vertebral abnormalities. Wedging vertebrae, probably due to growth disturbance of the vertebral bodies, could result in decreased LL, which leads to posterior pelvic tilt and posterior shift of sagittal balance.     

Intramedullary spinal teratoma and diastematomyelia. Case report and review of the literature.

The authors present a patient with diastematomyelia and a spinal intramedullary teratoma, remote from the split cord malformation. A split cord malformation at the L2-L3 level was initially discovered during investigations for thoracic congenital scoliosis, and this was treated surgically. The teratoma, which was at the level of the scoliosis, went undiagnosed until neurological deterioration occurred many years later. Surgical removal of the teratoma resulted in return to normal function. The potential for coexisting congenital anomalies at separate levels of the spinal cord must be considered in radiological investigations of a developmental spinal lesion.     

Frontal bone agenesis in a patient of spinal dysraphism

Associated cranial abnormalities with spinal dysraphism are not uncommon. We came across an unusual case of a 1-year-old male child with spinal dysraphism having lumbar meningomyelocele, who also had split cord malformation (hemicord with intervening bony spur) with lipoma of one of the hemicord and filum terminale. The patient also had communicating hydrocephalus without Chiari malformation and also near-total frontal bone agenesis. Single photon emission computed tomography scanning of brain revealed normal perfusion. In the first stage of repair, the patient had postoperative CSF leak for which ventriculo-peritoneal shunt was performed. This constitutes a rare anomaly associated with spinal dysraphism.     

儿童胸腰椎骨折脱位的外科治疗

目的 探讨儿童胸腰椎骨折脱位的伤情特点及椎弓根钉固定手术方法与疗效.方法 自2000年1月至2007年12月,对15例胸腰椎骨折脱位并伴有不同程度脊髓神经损伤的患儿,男11例,女4例.年龄5～12岁,平均7岁8个月,采用胸腰椎后路复位、减压,同时行椎弓根钉系统内固定术.结果 15例患儿术后随访10～48个月,平均32个月,术后X线检查显示伤椎高度恢复50%～80%,脊椎脱位都得到纠正,椎弓根钉位置好,未见松动、断裂.无一例发生血管损伤及感染.术前不同程度的脊髓神经损伤症状除了2例全瘫患儿无恢复外,其他病例在术后均得到不同程度的恢复.结论 儿童胸腰椎骨折脱位属于高能量损伤,创伤严重,常伴有不同程度脊髓神经损伤及合并伤;椎弓根钉固定治疗儿童胸腰椎骨折脱位是一种安全、可行方法,达到重建脊柱稳定性,解除脊髓神经受压,便于术后护理及提高患儿生活质量.     

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。     

Paraplegia in a thalassaemic patient with short stature

Extramedullary hematopoiesis (EMH) is a normal compensatory reaction that occurs in almost all chronic hemolytic anemia, especially in transfusion independent thalassemia intermedia, and can involve many organs or tissues, including the epidural space leading to spinal cord compression syndrome. We present a case of EMH in a 29 year old woman with thalassemia major, regularly transfused since the time of diagnosis (age 21 months), who presented with sudden muscle weakness, difficulty walking and maintaining the upright position. Magnetic Resonance Imaging (MRI) of the thoracic spine showed spinal cord compression secondary to extramedullary hematopoiesis in the spinal canal, leading to early therapy. The neurosurgical treatment (decompressive laminectomy D3-D6) in our patient brought a significant and rapid recovery. The next two MRI of the spine (after 6 and 18 months) were both negative for recurrence.     

Horizontal sacrum as an indicator of a tethered spinal cord

The horizontal sacrum has never been described as an indicator of a tethered spinal cord following myelomeningocele closure. We retrospectively analyzed 30 children with a myelomeningocele for this progressive change and its correlation with symptoms. At least two lateral radiographs over time were examined and the lumbosacral angle (LSA) was measured. We found that the majority of these children had an LSA that was greater than would be expected in patients with late and decreased ambulatory abilities. Also, we observed that the LSA was often inappropriately increased at the time many of these patients presented with symptoms indicative of a tethered spinal cord. We hypothesize that the LSA in this group of children is altered by a tethered spinal cord and that the horizontal nature of the sacrum may predate the clinically appreciable symptoms of a tethered spinal cord.     

Spinal capillary hemangioma in infants: report of two cases and review of the literature

We report the case of 2 infants born with a lumbar dermal sinus tract and an overlying angiomatous skin lesion referred to our pediatric neurosurgery service for evaluation of a tethered cord. Both infants were born with a lumbar dimple and were found to have a large cutaneous hemangioma without neurologic symptoms. An MRI of the lumbar spine revealed an isointense mass in the dorsal epidural at L(4) with an adjacent mass effect and extension into the overlying soft tissues. The spinal cord also appeared to be tethered with a fatty filum terminale. We performed a lumbar laminectomy and laminoplasty to remove the mass and to release the tethered cord. Pathologic examination confirmed the diagnosis of capillary hemangioma. Several case reports describe spinal capillary hemangiomas in adults, but only one found in the literature describes a case in an infant. We provide a review of the literature of spinal capillary hemangiomas and support the practice of evaluating infants with cutaneous lumbosacral hemangiomas for underlying spinal cord abnormalities.     

Lumbar spinal cord injury without radiological abnormality in a child: an exceptional form of presentation

SCIWORA is an uncommon syndrome affecting mainly children and is defined as the occurrence of acute spinal cord injury despite normal plain radiography and normal computed tomography (CT). Lumbar SCIWORA is very rare in children, and to our knowledge, there is only one report of lumbar SCIWORA in the literature. We present the case of a 5 year-old boy who suffered acute bilateral lower limbs paralysis, associated to urinary and bowel incontinence following a 1.5 meter fall. Lumbar cord contusion could be demonstrated on MRI without other radiologic abnormalities, which confirmed SCIWORA diagnosis. Our case report illustrates the potential seriousness of this disease and the importance of a thorough and accurate clinical history for diagnosis.     

Split cord malformation as a cause of tethered cord syndrome in a 78-Year-old female

A 78-year-old woman presented for evaluation of back pain, urinary dysfunction, leg weakness and progressive equinovarus foot deformity. She reported that shortly after her birth in 1924, she underwent resection of a subcutaneous 'cyst' in the lower lumbar area. Seven years prior to evaluation at our institution, she had undergone bilateral total knee arthroplasty for osteoarthritis. After the procedure, she began to experience severe low back pain that radiated into her legs. Weakness of the foot inverters, urinary dysfunction and worsening bilateral equinovarus foot deformity developed in the years following the surgery. MRI revealed a split cord malformation with a tethered spinal cord. Because of the patient's age and poor medical condition, her symptoms were managed conservatively. This case demonstrates symptomatic deterioration in an elderly patient with a tethered spinal cord after many years of clinical stability.     

Split cord malformations--a clinical study of 48 cases

OBJECTIVE: To determine the clinical profile of split cord malformations and to evaluate the results of surgery. DESIGN: Retrospective. SUBJECTS: Forty-eight patients of split cord malformation operated during a six years period were studied clinically and radiologically. RESULTS: The mean age of symptomatic patients was more than that of asymptomatic ones (6.85 years vs 2.03 years). The dorsolumbar and lumbar regions were most frequently involved and in three cases the cervical spine was affected. Weakness of lower limbs (n=37), muscle atrophy (n=23) and gait disturbance were the most common indicators of motor system involvement. The sensory complaints were mainly hypoesthesia (n=16), trophic ulcer (n=4) and autoamputation (n=3). Hypertrichiosis was the most common cutaneous marker present alone or in combination with other markers in 21 cases. MRI, done in all cases, correctly established the diagnosis. Additional lesions causing tethering were seen in 50% cases and were simultaneously treated. Associated Chiari malformation was seen in 12%. Of the 42 symptomatic patients, 21 improved, in 17 (40%) the neurological deficits stabilized and 4 showed deterioration. CSF leak occurred in 4 patients and 3 had wound infections. Among the asymptomatic patients none had neurological deterioration postoperatively. CONCLUSIONS: Split cord malformations are rare spinal cord disorders. Complete neural axis should be scanned at the first instance to determine associated lesions. Good results can be expected in about 90% patients with minimal complications.     

髓鞘少突胶质细胞糖蛋白抗体阳性的儿童中枢神经系统脱髓鞘疾病临床特点

目的探讨髓鞘少突胶质细胞糖蛋白(MOG)抗体阳性的儿童中枢神经系统(CNS)脱髓鞘疾病的临床特点及疗效。方法回顾性分析2017年3月至2019年2月在浙江大学医学院附属儿童医院神经内科住院的CNS脱髓鞘疾病患儿115例,其中MOG抗体阳性的CNS脱髓鞘疾病患儿28例,总结28例患儿临床特点。结果28例患儿中男10例,女18例,男女比例为1.00∶1.80;起病中位年龄7岁9个月。临床症状表现多样,主要包括头痛、呕吐、嗜睡等脑病症状(13/28例),视力下降(7/28例),脊髓症状(6/28例),共济失调、口齿不清等小脑症状(4/28例),抽搐(2/28例),颅神经症状(1/28例)。24例行脑脊液检查,其中10例(41.7%)白细胞数轻度升高,2例(8.3%)蛋白升高,6例(25.0%)MOG抗体阳性,24例脑脊液寡克隆区带均阴性。25例头颅磁共振成像(MRI)阳性,阳性率为89.3%,常见累及部位包括大脑白质(20/28例)、小脑(10/28例)、大脑半球灰质(9/28例)、丘脑/基底核区(6/28例)、脑干(6/28例)、视神经(5/28例)和胼胝体(4/28例)。28例患儿中,13例脊髓受累,累及颈髓10例,胸髓9例,腰髓5例,8例患儿脊髓累及≥3个节段的长节段脊髓病变。14例患儿进行视觉诱发电位检查,2例临床无视觉障碍表现的患儿存在亚临床视觉损害。患儿均接受大剂量甲泼尼龙冲击治疗,16例联合丙种球蛋白免疫调节治疗,急性期均临床症状缓解,随访中7例患儿病情复发,复发率为25.0%,复发患儿再次使用甲泼尼龙冲击治疗联合丙种球蛋白免疫调节治疗,临床症状可缓解。结论MOG抗体阳性的儿童CNS脱髓鞘疾病临床表型以急性播散性脑脊髓炎为主,脊髓以累及颈胸段为主。其治疗以糖皮质激素和丙种球蛋白为主,疗效显著,但易复发,复发后再次使用糖皮质激素和丙种球蛋白,疗效仍较好。     

Caudal regression syndrome - caudal agenesis

BACKGROUND: Neural tube defects are caused by complex genetic and environmental factors. The congenital anomaly most specific to pregnant women with diabetes mellitus is caudal regression syndrome. PATIENT: A 4-year-old boy with a history of mild delay in motor development presented with primary enuresis and encopresis. On physical examination, he had no sensory and motor deficits, but a short anal cleft. On questioning, the mother reported insulin-dependent diabetes mellitus during pregnancy. MRI of the spinal cord demonstrated a thoracic syringomyelia, a dysplastic conus medullaris, and an absence of coccyx and distal sacrum, called caudal regression syndrome or caudal agenesis. CONCLUSION: The caudal regression syndrome refers to sacral agenesis associated with spinal cord anomalies, e.g. syringomyelia. Sacral agenesis is marked by total absence of the coccyx and total or distal absence of the sacrum. An abnormal backside combined with a history of maternal diabetes mellitus in pregnancy is highly suggestive for the presence of caudal regression syndrome.     

Acute spinal cord swelling in a child with Chiari II malformation

We report on a patient with Chiari II malformation who developed acute cervical myelopathy and brainstem dysfunction following a shunt failure. A brain and spine magnetic resonance image obtained immediately after admission evidenced swelling of the medulla and upper cervical spinal cord. After emergency placement of an external ventricular drain, the swelling receded, the child's respiratory pattern improved and the motor function of his upper and lower extremities progressively returned to its normal condition. The case reported here suggests that in patients with Chiari type II malformation, spinal cord swelling might have a similar pathophysiology to the periventricular edema observed in the supratentorial compartment, and thus may be independent of the early stages of syringomyelia or syringobulbia.     

先天性马蹄内翻足患儿脊髓MRI表现

目的 先天性马蹄内翻足(CCF)患儿脊髓MRI图像是否有异常.方法 2004年10月至2005年12月我科共收治先天性马蹄内翻足患儿21例,同时收集无脊柱畸形及脊髓神经系统症状患儿的脊髓MRI图像13例.记录脊髓位置.对蛛网膜下腔、椎体和腰膨大按年龄分二组进行测量,SPSS 12.0统计学分析软件进行分析.结果 患病组7例膀胱肿大,2例肾脏发育不良,1例椎管内皮样囊肿.1例椎管内血管瘤,1例终丝脂肪沉积.且蛛网膜下腔前后径与相应椎体的比值从腰1(L1)到腰5(L5),患病组(CCF组)比对照组高.脊髓圆锥CCF组位于L1者占73.3%,而对照组为40%.7～12个月组和13个月到3岁组腰膨大的前后宽较对照组窄.结论 CCF患儿的脊髓位置低,且在6个月后腰膨大变窄,蛛网膜下腔前后径相对较宽.CCF患儿的小腿及足的神经异常可能来源于腰骶段脊髓的发育异常.     

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.     

Spinal muscular atrophy: MR evaluation

The neurogenic myopathy of spinal muscular atrophy (SMA) is degeneration of anterior horn cells of the spinal cord and associated muscle weakness. In three patients with the severe type, according to Dubowitz's classification, magnetic resonance imaging (MRI) of the lower extremity showed severe atrophy of the entire muscle bundles of the thigh and the calf. Nine intermediate type patients had ragged atrophy of muscle bundles of the thigh and the calf with selective preservation of adductor longus muscle. Five patients with the mild type had fatty infiltration of muscle bundles and increased intermuscular fat planes. MRI was insufficient for the evaluation of cervical cord abnormalities. MRI of the lower extremity was a reliable complementary modality for the diagnosis and follow-up of SMA patients.     

Spinal arteriovenous malformation presenting as spastic monoplegic cerebral palsy in a child

A case of spinal arterio‐venous malformation (AVM) initially diagnosed as unilateral cerebral palsy (CP) is reported. The presentation was of a long‐standing spastic monoparesis of the left leg, with initial response to Botulinum toxin injections to the calf and tibialis posterior muscles. This was followed by progressive deterioration occurring over a 3‐month period before further investigation and definitive diagnosis at 7 years. Imaging demonstrated a large extra‐medullary spinal AVM compressing the mid‐thoracic cord. This was successfully managed by embolisation with a non‐adhesive polymer: ethylene‐vinyl alcohol copolymer injected into the dominant feeding vessel. This case highlights the need to consider alternative diagnoses when a child with a diagnosis of CP presents with atypical clinical features such as monoparesis and has worsening or altered clinical signs. Moreover, a normal magnetic resonance imaging brain scan and the absence of ipsilateral upper limb neurological signs or functional impairment should raise suspicion even in the context of static lower limb signs. A literature review was performed on the management of spinal AVM in children and this will be is discussed.