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Adult with sacral lipomyelomeningocele covered by an anomalous bone articulated with iliac bone: Computed tomography and magnetic resonance images
Abstract
The present paper reports and discusses a case of sacral lipomyelomeningocele with an anomalous long bone articulating with the left iliac bone in a 40-year-old female. That patient had a monozygotic twin sister who had normal spine. The findings were incidental during an evaluation for a urinary tract infection. The computed tomography (CT) and magnetic resonance (MR) images revealed sacral dysraphism, lipomyelomeningocele, tethered spinal cord, and profound subcutaneous fat in the sacrococcygeal region. In addition, an anomalous bony strut was demonstrated on the posterior aspect of the sacrum, covering the sacral defect and the associated lipomyelomeningocele. The 3-D CT images of the anomalous bone associated with the sacral lipomyelomeningocele and the putative embryologic process are presented with a review of the literature.
... It usually presents as a subcutaneous fatty mass just above the intergluteal cleft. However, some lipomyelomeningoceles may occur at other locations along the spinal canal [16]. Tetralogy of Fallot is a congenital conotruncal malformation of anterior malalignment of the infundibular septum resulting in a large ventricular septal defect (VSD), varying degree of right ventricular outflow tract obstruction, overriding aorta, and right ventricular hypertrophy. ...
Giant encephalocele is an uncommon congenital anomaly with very few published reports available in the English literature. Tetralogy of Fallot associated with situs inversus is also infrequently reported. To our knowledge there are no published reports of an association between giant encephalocele and Tetralogy of Fallot. The additional finding of situs inversus results in a rare pathologic triad, not heretofore described.
The major components of the wastewater from the petroleum refineries are benzene, toluene and phenol and one of the techniques applied to the treatment of effluents is sorption using organo-functionalized clay. The materials exploited in the present study are a family of surface-functionalized synthetic micas and their sorption capacities for non-ionic organic pollutants are analyzed. The organo-functionalization of their surface provides them the capacity to sorb effectively non-ionic pollutants in the interface. Their adsorption performance is a function of the alkylamonium properties such as the chain length, the mass fraction and the organization of the organic cation in the interlayer space of the micas.
A patient with lipomyelomeningocele (known in utero) presented for MRI characterization prior to surgical procedure at three months of age. Cross-sectional imaging revealed a spinal dysraphism of the lower lumbar spine, with a posterior spinal defect spanning L4 to S2 subcutaneous fat intrusion, and distal spinal cord extrusion. An osseous excrescence was also appreciated, articulating with the left iliac bone. This case demonstrates the youngest known lipomyelomeningocele with accessory limb and the abnormal growth of multiple tissue types at the site of spinal dysraphism—a potential consequence of dedifferentiated cell proliferation originating from a secondary neural tube defect or rachipagus parasitic twinning.
Neural tube defects (NTDs) are common, severe congenital malformations whose causation involves multiple genes and environmental factors. Although more than 200 genes are known to cause NTDs in mice, there has been rather limited progress in delineating the molecular basis underlying most human NTDs. Numerous genetic studies have been carried out to investigate candidate genes in cohorts of patients, with particular reference to those that participate in folate one-carbon metabolism. Although the homocysteine remethylation gene MTHFR has emerged as a risk factor in some human populations, few other consistent findings have resulted from this approach. Similarly, attention focused on the human homologues of mouse NTD genes has contributed only limited positive findings to date, although an emerging association between genes of the non-canonical Wnt (planar cell polarity) pathway and NTDs provides candidates for future studies. Priorities for the next phase of this research include: (i) larger studies that are sufficiently powered to detect significant associations with relatively minor risk factors; (ii) analysis of multiple candidate genes in groups of well-genotyped individuals to detect possible gene-gene interactions; (iii) use of high throughput genomic technology to evaluate the role of copy number variants and to detect 'private' and regulatory mutations, neither of which have been studied to date; (iv) detailed analysis of patient samples stratified by phenotype to enable, for example, hypothesis-driven testing of candidates genes in groups of NTDs with specific defects of folate metabolism, or in groups of fetuses with well-defined phenotypes such as craniorachischisis.
Neural tube defects (NTDs) are common, severe congenital malformations whose causation involves multiple genes and environmental factors. Although more than 200 genes are known to cause NTDs in mice, there has been rather limited progress in delineating the molecular basis underlying most human NTDs. Numerous genetic studies have been carried out to investigate candidate genes in cohorts of patients, with particular reference to those that participate in folate one-carbon metabolism. Although the homocysteine remethylation gene MTHFR has emerged as a risk factor in some human populations, few other consistent findings have resulted from this approach. Similarly, attention focused on the human homologues of mouse NTD genes has contributed only limited positive findings to date, although an emerging association between genes of the non-canonical Wnt (planar cell polarity) pathway and NTDs provides candidates for future studies. Priorities for the next phase of this research include: (i) larger studies that are sufficiently powered to detect significant associations with relatively minor risk factors; (ii) analysis of multiple candidate genes in groups of well-genotyped individuals to detect possible gene-gene interactions; (iii) use of high throughput genomic technology to evaluate the role of copy number variants and to detect 'private' and regulatory mutations, neither of which have been studied to date; (iv) detailed analysis of patient samples stratified by phenotype to enable, for example, hypothesis-driven testing of candidates genes in groups of NTDs with specific defects of folate metabolism, or in groups of fetuses with well-defined phenotypes such as craniorachischisis.
This hypothesis is offered by a neurological surgeon interested in anomalies of the central nervous system. It is based on accumulating evidence indicating that some neural tube defects result not from failure of the tube to close but from its rupture after closure. The central nervous system, serving all organs, is the first to develop and its maldevelopment may cause damage to other emerging structures. The neural tube closes during the fourth week and is immediately distended by a proteinaceous neural tube fluid (NTF) secreted by its lining cells at a pressure four to five times that of the surrounding amniotic fluid. This NTF has been miscalled “cerebrospinal fluid.” The choroid plexus does not begin to secrete true cerebrospinal fluid (CSF) until 2 weeks later. If oversecretion of NTF should occur during this 2-week interval, the resulting overexpansion of the neural tube may spread apart the developing somites, eventuating in a combination of anterior and posterior spina bifida that constitutes bilateral hemivertebrae. If the distending neural tube ruptures beneath intact cutaneous ectoderm, the escaping NTF will infiltrate mesoderm. The resulting dislocation of cells and their possible injury by the extraneous protein may damage the as yet unidentifiable anlagen of mesodermal organs. If neural tube overdistention splits the underlying notochord and damages primitive gut, anomalies of entodermal organs may result. The neuroenteric cyst is one such anomaly that the neurosurgeon is called upon to treat. He finds it accompanied by hemivertebrae and hydromyelia. A preliminary report on this hypothesis has been published (Gardner and Breuer, '80).
Spinal dysraphism is a common congenital anomaly with many associated variants. One of the rarest associated findings is a full grown or rudimentary third limb, collectively called Tripagus. We present two cases of spinal dysraphism with rudimentary third limb arising from the ilium.
Two cases of intraspinal abnormalities combined with a characteristic unilateral protuberance of the iliac bone are reported. A search of the literature revealed only 2 other examples of this condition, but analysis of the associated findings in all 4 cases suggested a specific syndrome consisting of the iliac protuberance, other ipsilateral osseous abnormalities, and occult spinal dysaphism including intraspinal lipoma.
A neonate with three legs associated with spina bifida cystica and accessory rudimentary external genitalia is presented. A detailed radiologic workup was done preoperatively. The nomenclature and morphogenesis of this anomaly is briefly discussed.
The deviation of large limb nerves to a more proximal skin wound yielded a high proportion of accessory limb respones in different age groups of Ambystoma mexicanum (axolotls). In some instances the deviated nerve was positioned on skin previously grafted from an animal of different age and pigmentation from that of the host. Grafts were found not to be a necessary prerequiste for accessory limb induction, but the presence of wound epithelium was required. The rule of distal morphogenesis was expressed in reference to the level at which the nerve was cut, not in reference to the wound site where the accessory actually developed.
The upper arm proved to be a more favorable site for accessory limb production than the flank or the leg under the conditions of the present experiments, in which little or no damage was done to the underlying muscles. The orientation of the accessory limb was extremely varied despite the uniformity of the surgical procedure.
The spinal anomaly designated dorsal dysraphism with lipoma (lipomyeloschisis) consists of skin-covered, focal spina bifida; focal partial clefting of the dorsal half of the spinal cord; continuity of the dorsal cleft with the central canal of the cord above (and occasionally below) the cleft; deficiency of the dura underlying the spina bifida; deep extension of subcutaneous lipoma through the spina bifida and the dural deficiency to insert directly into the cleft on the dorsal half of the cord; variable cephalic extension of lipoma into the contiguous central canal of the cord; and variable ballooning of the subarachnoid space to form an associated meningocele. The variable individual expressions of the anomaly are best understood by reference to their archetypal concept. Careful analysis of radiographic and surgical findings in human lipomyeloschisis and correlation with an animal model of lipomyeloschisis indicate that plain spine radiographs and high-resolution metrizamide computed tomographic myelography successfully delineate the precise anatomic derangements associated with lipomyeloschisis and provide the proper basis for planning surgical therapy of this condition.
An accessory limb associated with spina bifida was already reported by the authors. We had then described it as a result of a very early splitting of the limb bud arising from the paraxial mesoderm. We have subsequently seen three other such cases, which are described in this report as well as a review of five other cases in the literature. It is proposed that the growth of the accessory limb occurs from a mesodermal blastema that is a result of de-differentiation from Schwann cells.
Spinal and spinal cord malformations are collectively named spinal dysraphisms. They arise from defects occurring in the early embryological stages of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal dysraphisms are categorized into open spinal dysraphisms (OSDs), in which there is exposure of abnormal nervous tissues through a skin defect, and closed spinal dysraphisms (CSD), in which there is a continuous skin coverage to the underlying malformation. Open spinal dysraphisms basically include myelomeningocele and other rare abnormalities such as myelocele and hemimyelo(meningo)cele. Closed spinal dysraphisms are further categorized based on the association with low-back subcutaneous masses. Closed spinal dysraphisms with mass are represented by lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise simple dysraphic states (tight filum terminale, filar and intradural lipomas, persistent terminal ventricle, and dermal sinuses) and complex dysraphic states. The latter category further comprises defects of midline notochordal integration (basically represented by diastematomyelia) and defects of segmental notochordal formation (represented by caudal agenesis and spinal segmental dysgenesis). Magnetic resonance imaging (MRI) is the preferred modality for imaging these complex abnormalities. The use of the aforementioned classification scheme is greatly helpful to make the diagnosis.
Neural tube defects (NTDs) are a group of widely varying congenital malformations resulting from incomplete or improper fusion of the neural tube during embryonic development. NTDs are traditionally classified by the presence or absence of a layer of skin covering the spinal defect. Although a genetic component has been well established in the etiology of open NTDs, studies examining the genetics of closed NTDs such as lipomyelomeningocele are rare. We and others have previously observed families in which multiple members were affected with a broad spectrum of NTDs, suggesting the possibility of a common genetic etiology.
We calculated the sibling recurrence risk in 52 pedigrees in which the proband was diagnosed with lipomyelomeningocele (LMM), defining recurrence broadly to include both closed and open neural tube defects.
Although no recurrences of LMM were observed among younger siblings, one younger sibling had myelomeningocele, yielding an estimate of recurrence risk of 0.04 (95% CI 0.01-0.20). When all siblings of the proband were included, two additional affected siblings were identified, one with anencephaly and another with fatty filum, yielding an estimate of recurrence risk of 0.043 (95% CI 0.01-0.12).
Although the sample size is small, these data are not inconsistent with recurrence risks for myelomeningocele, ranging from 2% to 5% in siblings. These data suggest the underlying genetic basis for closed defects may be the same or closely related to that for myelomeningocele in some families, although a larger sample will be necessary before these data are appropriate for use in a clinical setting. Further characterizations, including whether risk for recurrence of NTDs or LMM in families in which the proband is affected with LMM are altered by folate supplementation, may shed light on the underlying genetics.
A male infant was born with a digit attached to a skin-covered lumbar lipomatous mass and an underlying split cord malformation.
Surgical removal of the mass was performed at four months-of-age. By this time the digit had grown a nail and imaging and histology showed ongoing development of articulated phalanges.
The lipomatous mass contained a long bone, a clavicle- and scapula-like structure and a variety of other mature germ layer derivatives. These features raised a number of diagnostic considerations, including: mature teratoma, hamartoma, rudimentary parasitic twin, lipomyelomeningocele and dorsal accessory limb.
Based on review of the literature, the authors hypothesize that there is a pathogenetically related spectrum of skin-covered dorsal mass lesions, often associated with spinal dysraphism. These consist of a major lipomatous component and a variety of mature germ layer derivatives that can vary widely in their degree of anatomical organization from case to case.
Magnetic Resonance Imaging of the Brain and Spine, 2nd edn Accessory limb production by nerve-induced cell prolif-eration
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Langman's Medical Embryology Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele
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