Cervical spina bifida cystica: MRI differentiation of the subtypes in children

Background Cervical spinal dysraphism is a rare condition with only 37 cases reported in the literature, of which only seven patients had undergone preoperative magnetic resonance imaging (MRI).Objective By using illustrative cases, we demonstrate the value of MRI in distinguishing the two different subtypes of cervical spinal dysraphism, namely, myelocystocele and meningocele.Method Retrospective review of the MRI scans of six patients with cervical (one high thoracic) posterior cystic swellings, which were diagnosed as cervical dysraphism, was done.Results Three patients were diagnosed with myelocystocele and three patients with meningocele. A comparison of MRI features between the two entities, as well as the associated anomalies, is discussed.Conclusion MRI is the imaging modality of choice for suspected cervical dysraphism, prior to surgery. It helps distinguish the subtypes, as well as identify the associated anomalies.     

Primary lumbosacral Wilms tumor associated with diastematomyelia and occult spinal dysraphism

Background The occurrence of an extrarenal Wilms tumor in the lumbosacral region is an extremely uncommon condition.Case report We report a case of Wilms tumor in the lumbosacral region that was associated with diastematomyelia and occult spina bifida. An 18-month-old girl presented with a swelling over the lower back with a tuft of hair on it, which she had had since birth. Imaging of the spine revealed spina bifida, bony diastematomyelia, and tethered cord. Excision of the bony spur and detethering of the cord was done. After a year, she had recurrence of swelling at the same site, weakness of both lower limbs, and incontinence of bladder and bowel. Excision of the mass and bony spur and detethering of the spinal cord were done. Histopathological examination showed features of a Wilms tumor.     

Spinal dysraphism: experience with 250 cases operated upon

During a period of 4 years (December 1983—December 1987) 250 children were operated upon by the authors. At the outpatient clinic of the New Children's Hospital 313 infants and children suffering a myelodysraphic lesion were seen, 63 of whom were not treated surgically owing to the presence of severe hydrocephalus in 16 cases and complete flaccid paraplegia with marked sphincteric disturbances in 47. All of the patients came from poor families. Malnutrition, many siblings per family, poor maternal care, and repeated pregnancies and abortions have added to the large incidence of such a handicap in Egypt. The clinical features, diagnosis, and management of 200 cases of spina bifida aperta (SBA) and 50 of spina bifida occulta (SBO) are summarized. SBA cases were operated upon as soon as possible from the time of their presentation; their preliminary assessment included an exhaustive general, neurological, urological, and orthopedic examination; and investigations such as plain X-rays to the back and skull, CT scanning of the cranium, spinal myelogram, and metrizamide CT scanning to the back were performed. The surgical outcome is far from being satisfactory in the sense of producing an ambulatory, intelligent, healthy individual, especially in a meningomyelocele patient having a high-level lesion. The authors believe that there is still much to be done for these children marked by fate, and the neurosurgeon should be one among several other physicians devoted to the amelioration or at least the prevention of worsening, if possible, of the condition in such unfortunate and handicapped children.     

Cervical meningocele in association with spinal abnormalities

Case report This case report presents a newborn baby girl, who was diagnosed at birth with a mid-cervical meningocele. Further radiographic workup by MRI revealed co-existing thoracic diplomyelia and bilateral tethered cords. At birth the patient was found to be neurologically intact. Surgery was performed at 4 months of age, the patient undergoing simultaneous repair of the cervical meningocele, exploration of the diplomyelia, and release of the tethered cords bilaterally. Long-term follow-up revealed an ambulating patient with no bowel or bladder incontinence, who has developed well for her chronological age so far.Review of the literature A review of the literature relevant to this case is also presented.     

Lateral congenital spinal dermal sinus

Two children with spinal dermal sinuses of congenital origin are described. They are unusual because the skin dimples were located off the midline at the gluteal region.     

Cervical myelocystocele: prenatal diagnosis and therapeutical considerations

Background  Cervical myelocystocele (CMC) is a very rare congenital malformation and belongs to the spectrum of skin-covered (occult) dysraphisms. Only 15 cases have been so far reported throughout the literature. We report the first case of CMC whose diagnosis was established prenatally by ultrasound imaging (US) followed by fetal magnetic resonance imaging (MR). Case History  A 35-year-old woman was referred for further investigations following prenatal assessment of a fetal cervical mass observed on routine US during pregnancy. Fetal karyotype was normal. Fetal MR confirmed the ultrasonographic findings and led us to strongly suspect the diagnosis of CMC. The newborn was operated on 2 months after birth. The goal of surgical procedure was to remove the malformation and to obtain an untethering of the spinal cord. Twelve months later, the child is still neurologically intact. Discussion  We discuss embryogenesis, different subtypes, associated malformations, and surgical strategy associated with myelocystoceles. Conclusions  This case adds to the existing literature in that it shows for the first time antenatal images of this rare condition and discusses treatment and follow-up implications.     

Magnetic resonance evaluation of spinal dysraphism in children

Magnetic resonance (MR) imaging of the spine was performed as the initial imaging technique in 20 children when spinal dysraphism was suspected clinically and plain radiographs showed spina bifida. The correlation with surgical findings indicated that MR provided accurate information preoperatively in all the cases. Some unusual observations in cases with spina bifida cystica and occulta are discussed. It is concluded that plain radiograph and MR complete the preoperative radiologic evaluation of cases with spinal dysraphism.     

Degree of tectal beaking correlates to the presence of nystagmus in children with Chiari II malformation

Introduction Tectal beaking is a common finding in children born with a myelomeningocele. Quantitation of the presence or absence of this finding correlated with normal or abnormal eye movements is lacking in the medical literature.Materials and methods We prospectively evaluated 50 children in our multidisciplinary spina bifida clinic. Each child was observed for the presence or absence of nystagmus at rest or with extraocular movement. Grades of nystagmus and severity of tectal beaking (Types I–III) on MRI were then correlated.Results Overwhelmingly, children with greater dysmorphology of the mesencephalic tectum were most likely to have nystagmus. Higher grades of nystagmus were associated with Type III tectal beaking.Conclusions We have demonstrated that there is a correlation between the presence and severity of nystagmus and the severity of tectal beaking and have quantified this association in patients with the Chiari II malformation. This information may act as a guide in predicting which children with the Chiari II malformation will have significant nystagmus. These data may aid the clinician in the interpretation of oculomotor abnormalities in this cohort of patients.     

Malformations of the spinal cord in 53 patients with spina bifida studied by magnetic resonance imaging

The incidence of associated malformations of the hindbrain and spinal cord in patients with spina bifida was investigated by a clinical and magnetic resonance study. The incidence of these malformations in combination with spina bifida was 49/53 (92.5%). Fiftytree children born with spina bifida aperta (40 patients) or spina bifida occulta (13 patients) formed the study group. The incidence of the various malformations were: Chiari malformations, type I, 10/53 (19%), and type II, 20/53 (38%); syringomyelia, 13/53 (24.5%); hydromyelia 4/53 (7.5%); tethered cord malformation, 35/53 (66%); diastematomyelia 2/53 (4%). Thirty-seven of the 49 patients with associated malformations had no clinical signs at the time of our study. The results point to the fact that in the pediatric age group, associated spinal defects often remain asymptomatic.     

Enterogenous cyst in the thoracic spinal canal in association with a syringomeningomyelocele

A thoracic intradural extramedullary enterogenous cyst in association with a syringomeningomyelocele in a 5-year-old boy is presented. The pathogenesis of this rate association is discussed and the pertinen literature reviewed.     

Urinary incontinence in a patient with Duchenne muscular dystrophy and cord in the normal position with fatty filum terminale

Introduction To our knowledge, muscular dystrophy and specifically, Duchenne muscular dystrophy, has not previously been associated with gross intrathecal abnormalities.Case report We report a pediatric patient with Duchenne muscular dystrophy that was diagnosed a long time ago and recent onset urinary incontinence. MRI revealed a conus medullaris in a normal position with a fatty-infiltrated filum terminale. Operative intervention was performed entailing sectioning of the filum terminale. This resulted in resolution of the childs urinary incontinence.Conclusion Although seemingly rare and perhaps associated by serendipity, new, unusual neurological deficits in a patient with muscular dystrophy, especially of an upper motor neuron nature, should warrant MRI to rule out pathology of the spinal cord such as tethering.     

Unusual MR presentation of occult spinal dysraphism with lumbosacral lipoma and dermoid cyst

Case report We describe a case with tethered cord syndrome due to the association of intradural lipoma and a dermoid cyst at the filum terminale that had an unusual magnetic resonance (MR) appearance.Discussion Although both pathologies usually demonstrate a similar intensity on MR images, the involvement of a capsule filled with hair in the dermoid cyst, which presented hypointensity, may be a clue to be differentiated from lipoma on preoperative MR images.     

The role of somatosensory evoked potentials in spinal dysraphism – do they have a prognostic significance?

Somatosensory evoked potentials (SEP) are not routinely used in spinal dysraphism. In this study 38 patients (29 children and 9 adults) with spinal dysraphism were prospectively studied with the objective of evaluating whether SEPs were a prognostic tool that could be used to predict clinical improvement after repair of a spinal dysraphic lesion. For all patients, preoperative SEP and postoperative SEP (within 1 week of operation) were recorded. Fifteen of these patients also had follow-up postoperative SEP recordings taken within 3 months of operation. A clinical examination was performed at the time of each SEP. Thirty patients had tethered cord, 12 had diastematomyelia and 15 had intra- and/or extradural tumours, which included lipomas and dermoid and epidermoid tumours. Twenty-one children and all adults had abnormal preoperative SEPs. Sixteen children and 4 adults had improved SEPs postoperatively. All these children and 2 of the 4 adults also experienced clinical improvement. Improvement in SEPs preceded clinical improvement in 12/20 patients. We observe that SEPs have a good prognostic value. Received: 14 December 1997     

Retinoic acid downregulates microRNAs to induce abnormal development of spinal cord in spina bifida rat model

Objects MicroRNAs have been found in the developing central nervous system, but little is known about their functions in development, especially in the abnormal development of spinal cord in spina bifida. To this end, we have studied the mechanism of microRNAs involved in the morphogenesis of the spinal cord in all-trans-retinoic acid (RA)-treated spina bifida rat fetus. Materials and methods Timed-pregnant rats were gavage-fed RA, and embryos were obtained on 13.5, 15.5, 17.5, and 19.5 days. MicroRNAs’ expression profile was analyzed by Northern blot. In situ apoptosis detection and microRNA in situ hybridization methods on sections of paraffin-embedded tissues were employed to explore the mechanism. Conclusion Administration of RA reduced the size of the spinal cord, probably as a consequence of increased cell death. There is a dramatic decrease in the expression of miR-9/9*, miR-124a and miR-125b, and Bcl2 and P53 as well in the sacral cord from E13.5 to E19.5 days post coitum. Our data showed that expression of these microRNAs was dysregulated in RA-treated spinal cord during embryonic development, suggesting that they may be involved in the development of the spinal cord.     

En bloc excision of a dermal sinus tract

Dermal sinus tracts are a form of spinal dysraphism that arises from a failure of dysjunction early in embryogenesis. They are diagnosed in pediatric patients and who present with a dimple, infection, or neurologic deficit. The tract is surgically excised en bloc to avoid contamination from the tract, which harbors bacteria. However, dermal sinus tracts typically terminate intradurally, rendering their en bloc excision difficult. To avoid entering the tract, allowing for an en bloc excision, we modified the usual technique employed for accessing the spinal intradural space. An en bloc excision of the dermal sinus tract was successfully performed. The patient recovered from the procedure neurologically intact and her postoperative course was uncomplicated. We conclude that en bloc excision of a dermal sinus tract down to the intradural space is feasible with modifications to standard operative technique.     

Neural tube defects are rare among black Americans but not in sub-Saharan black Africans: the case of Yaounde - Cameroon

FTY720, also known as fingolimod, is an orally administered sphingosine-1-phosphate (S1P) analogue that is under investigation as a therapy for both relapsing-remitting (RR) and progressive forms of multiple sclerosis (MS). The demonstrated beneficial effect of FTY720 on disease activity in RR-MS patients and in the animal model experimental autoimmune encephalomyelitis (EAE) is largely attributed to effects on the systemic immune system. In addition, unlike other current systemic immuno-modulators used in MS, the lipophilic nature of FTY720 allows it to cross the blood-brain barrier (BBB). Since S1P receptors are expressed on all cell types, FTY720 has the potential to exert effects directly on the BBB and on resident cells of the CNS. The latter include cells implicated in regulating immune reactivity within the CNS (astrocytes, microglia), those that are targeted by the disease process (oligodendrocytes, neurons), and those involved in repair (oligodendrocyte progenitor cells). In vitro studies document the dose-dependent effects of FTY720 on neural cell survival, differentiation, and cytoskeletal dynamics. Animal model studies, specifically EAE, indicate an overall neuroprotective effect of FTY720 mediated at least in part by its actions within the CNS. Ongoing studies will need to define the direct and indirect (via immune-modulation) effects of FTY720 on the CNS across the broad clinical spectrum of MS.     

Patterns of neuronal differentiation in neural tube mutant mice: Curly tail and pax3 splotch-delayed

A battery of antibodies was used to assess development of the spinal cord and its neurons in mouse embryos with neural tube defects (NTDs). The two mutant strains examined, curly tail (ct) and splotch-delayed (Pax3^Sp-d), develop an open neural tube for unrelated reasons, and thus provided for a complementary analysis. Five percent of embryos homozygous for the ct gene and 89% of embryos homozygous for the Pax3^Sp-d gene develop spina bifida in the lumbosacral region of the neuraxis. Expression of several neuronal antigens, including Islet-1/2, polysialylated neural cell adhesion molecule (NCAM), neurofilaments, and a neuronal-specific nuclear protein (NeuN) recognized by monoclonal antibody A60, were used as indicators of the level of differentiation of neuronal tissue. Immunohistochemical labeling suggests that early (embryonic days 12–15) neuronal differentiation in the dorsal and ventral region of the dysraphic neural tube occurs remarkably normally in both of the mutants. Similarly, labeling with antibodies to NCAM and neuroafilaments indicate that axonal development during early neurogenesis is unperturbed. Later stages of neuronal maturation, however, do not occur in the usual manner. Instead, the neuronal tissue begins a prodigious degeneration at embryonic day 17 (E17), so that by E18 only a rudimentary tissue remains. These results suggest that the aberrant morphology of the neural tube does not affect neuronal differentiation. However, the anomalous morphological and chemical environment may contribute to the neuronal degeneration observed at later stages. © 1996 Wiley-Liss, Inc.     

Intramedullary spinal epidermoid cyst of the upper thoracic region

We report a 40-year-old male who presented with a two year history of thoracic cord compression. MRI of the thoracic spine demonstrated a diffuse, non-gadolinium enhancing intramedullary spinal cord tumour, extending from the C7 to T2 vertebral body levels. The lesion was surgically resected and the pathology revealed an epidermoid cyst. Epidermoid cysts are rare slow-growing lesions apparently resulting from inclusion of ectodermal tissue during the closure of the neural tube. The average age of presentation is about 35 years and the history of the symptoms is usually long. The treatment is surgical, and complete removal is the goal, if possible.     

Extradural thoracic meningeal cyst without spinal dysraphism causing adulthood myelopathy: Case illustration and review of the literature

Extradural spinal meningeal cysts are rare lesions in the adult spine and are an uncommon cause of neurologic deficits. We present the case of an adult who presented with myelopathic symptoms related to a dorsally based extradural thoracic meningeal cyst in the absence of any defect in the posterior spinal elements and no history of spinal dysraphism or trauma. We also performed a review of the literature to evaluate the surgical techniques for extradural meningeal cysts. Most thoracic cysts are intradural arachnoid cysts, yet this lesion is an extradural meningeal cyst, not an intradural arachnoid cyst. Because of the rarity of this lesion, its anatomic characterization can be difficult to conceptualize. An artist’s illustration helps illustrate the anatomic characteristics of this cyst and our surgical management.     

颈椎骨折脱位致脊髓损伤的手术治疗体会

颈椎骨折及脱位导致脊柱序列异常及颈椎失稳，常合并脊髓损伤，治疗复杂，而且疗效较差。2002-2006年我科对收治的32例此类患者进行前路、后路和前后路联合人路手术治疗，现总结报告如下。[第一段]