Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ECTODERMAL DEFECT”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

1,148 records · Page 64Linked to original sources

Development of the posterior neural tube in human embryos.

Development of the posterior neural tube (PNT) in human embryos is a complicated process that involves both primary and secondary neurulation. Because normal development of the PNT is not fully understood, pathogenesis of spinal neural tube defects remains elusive. To clarify the mechanism of PNT development, we histologically examined 20 human embryos around the stage of posterior neuropore closure and found that the developing PNT can be divided into three parts: 1) the most rostral region, which corresponds to the posterior part of the primary neural tube, 2) the junctional region of the primary and secondary neural tubes, and 3) the caudal region, which emerges from the neural cord. In the junctional region, the axially-condensed mesenchyme (AM) intervened between the neural plate/tube and the notochord at the stage of posterior neuropore closure, while the notochord was directly attached to the neural plate/tube in the most rostral region. A single cavity was found to be formed in the AM as the presumptive luminal surface cells were radially aligned in the junctional region prior to the formation of the neural cord. The single cavity was continuous with the central cavity of the primary neural tube. In contrast, multiple or isolated cavities were frequently observed in the caudal region of the PNT. Our observation suggests that the junctional region of the PNT is distinct from other regions in terms of the relationship with the notochord and the mode of cavitation during secondary neurulation.

Cauda Equina↗

Speculations on the pathogenesis of CHARGE syndrome.

To be seriously considered, a theory about the pathogenesis of a multiple congenital anomaly syndrome should meet three criteria: (1) it should explain all of the anomalies associated with the syndrome; (2) it should explain why certain anomalies are not associated with the syndrome; and (3) it should predict anomalies that could be associated with the syndrome, but have not yet been described. The theory must eventually pass the ultimate test, that is, molecular confirmation of the proposed mechanism. Several theories about the pathogenesis of CHARGE syndrome have been proposed, but none of these meet the three criteria stated above. In this study, the author proposes that CHARGE syndrome is due to a disruption of mesenchymal-epithelial interaction (epithelial includes ectoderm and endoderm). The theory is tested against the major, minor, and occasional anomalies that are used to make the clinical diagnosis of CHARGE syndrome. Review of the known embryology of the organs and tissues involved in CHARGE syndrome confirms that mesenchymal-epithelial interactions are necessary for proper formation of these organs and tissues. The presence of limb anomalies in approximately one-third of CHARGE syndrome patients fulfills criteria #3 above, in that limb anomalies were not felt to be a part of CHARGE syndrome until relatively recently. It is known that some patients with chromosomal abnormalities have a phenotype that overlaps with CHARGE syndrome. Given that critical developmental pathways must be robust and redundant in order to minimize errors, it may be that disruption of more than one gene is necessary to generate the CHARGE phenotype, as has been proposed for the holoprosencephaly sequence. Mutations and deletions of CHD7 have recently been identified as causing CHARGE syndrome in more than 50% of tested patients. Given this gene classes' putative role as a general controller of developmental gene expression as well as mesodermal patterning, it would fit the hypothesized mechanisms discussed in the study.

Abnormalities, Multiple↗

Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome.

A boy with characteristic facial features, pulmonary valvular stenosis, ectodermal abnormalities, growth failure, and mental retardation was admitted for intestinal occlusion at 20 months of age. Clinical findings were consistent with a diagnosis of cardio-facio-cutaneous syndrome (CFC-s), and a huge abdominal mass was evident on computed tomography scan. A biopsy was performed, and embryonal rhabdomyosarcoma was diagnosed. Molecular analysis was performed by reverse transcription (RT) polymerase chain reaction (PCR) on tumor RNA to seek the chimerical transcript of the most common soft tissue sarcoma translocations and analyze neurofibromatosis 1 (NF1) gene expression. Translocations involving 1;13, 2;13, and 11;22 were not found, and the specific transcripts of the NF1 gene were present. Chemotherapy was implemented, but the child died 7 months later of tumor progression. Few patients with CFC-s have been described, and their follow-up is not well known. The association of CFC-s with rhabdomyosarcoma has not been reported previously, but other neoplasms have been reported in patients with Noonan syndrome, a condition similar to CFC-s. More observations are needed, but this and other reports suggest there could be a higher risk of malignancy in patients with syndromes in the Noonan phenotype category.

Adult↗

CNS midline cells contribute to maintenance of the initial dorsoventral patterning of the Drosophila ventral neuroectoderm.

Dorsoventral patterning of the Drosophila ventral neuroectoderm is established by the expression of three evolutionarily conserved homeodomain genes: ventral nervous system defective (vnd), intermediate neuroblasts defective (ind), and muscle segment homeobox (msh) in the medial, intermediate, and lateral columns of the ventral neuroectoderm, respectively. It was not clear whether extrinsic factor(s) from the CNS midline cells influence the initial dorsoventral patterning by controlling the expression of the dorsoventral patterning genes. We show here that the CNS midline cells, specified by single-minded (sim), are essential for maintaining expression of the dorsoventral patterning genes. Ectopic expression of sim in the ventral neuroectoderm during the blastoderm stage repressed expression of the three homeodomain genes in the ventral neuroectoderm. This indicates that the identity of the CNS midline cells is established by a series of repressions of the three homeodomain genes in the ventral neuroectoderm. Ectopic expression of sim in the ventral neuroectoderm during initial neurogenesis induced ectopic ind expression in the medial column in addition to that in the intermediate column via EGFR signaling between the ventral neuroectoderm and midline cells. In contrast, it repressed the expression of vnd and msh in the medial and lateral columns, respectively. Our findings demonstrate that the CNS midline cells provide extrinsic positional information via EGFR signaling that maintains the initial subdivision of the ventral neuroectoderm into three dorsoventral columns during initial neurogenesis.

Animals↗

Delamination and division in the Drosophila neurectoderm: spatiotemporal pattern, cytoskeletal dynamics, and common control by neurogenic and segment polarity genes.

Cytoskeletal changes occurring during the delamination of precursors of the peripheral (microchaete precursors in the pupal notum) and central nervous system (embryonic SI neuroblasts) were studied. The pattern of cell division in the ventral neurectoderm (VN) of wild-type embryos was analyzed using BrdU incorporation and correlated to the pattern of neuroblast delamination. Finally, defects in the pattern of proliferation of the VN and neuroblast delamination which occur in Notch and wingless mutant embryos were described. The results indicate that the patterns of delamination and mitosis are closely correlated: delamination occurs either immediately after a cell has divided (in case of microchaete precursors) or shortly before the division (in case of the neuroblasts). In addition, cytoskeletal changes similar to those occurring during mitosis can be seen in delaminating neuronal precursors. Thus, during both mitosis and delamination, the discrete apicobasally oriented microfilament-tubulin bundles break down. Microfilaments form a dense, diffuse cortical layer surrounding the entire cell body. Microtubules are concentrated at the apically located centrosome. The relationship between mitosis and delamination is supported by the finding that the neurogenic gene Notch and segment polarity gene wingless (wg) affect both proliferation and delamination in the ventral neurectoderm. Thus, in embryos expressing the trunkated cytoplasmic domain of the neurogenic gene Notch under heat-shock control (Struhl et al., 1993), all ventral neurectodermal cells go into mitosis prematurely, followed by the absence of neuroblast delamination. In wg loss-of-function mutants, mitosis in the VN is irregular and generally postponed, accompanied by irregularities in the timing of neuroblast delamination in general and the absence of a subset of neuroblasts.

Actin Cytoskeleton↗

Spinal neurenteric cysts and their relation to more common aspects of occult spinal dysraphism.

OBJECT: Neurenteric cysts are infrequently reported congenital abnormalities believed to be derived from an abnormal connection between the primitive endoderm and ectoderm. The authors report a series of 13 patients treated over a 50-year period. METHODS: Of the 13 patients, seven were female and six were male. Their ages at presentation ranged widely from 5 weeks to 52 years of age. Children presented more commonly with cutaneous stigmata of occult spinal dysraphism (OSD) whereas adults presented primarily with pain. Neurological deficit as a presenting symptom was less common in our series, a finding that reflects the slow growth of these lesions. In all but one patient some form of vertebral anomaly was associated with the cystic lesions, including two patients with Klippel-Feil abnormalities. There was a high incidence of associated forms of OSD including split cord malformation, lipoma, dermal sinus tract, and tethered spinal cord. In previous reports the authors have suggested that neurenteric cysts are more common in the cervical region and in a position ventral to the cord. In the present series these cysts most commonly occurred as intradural, extramedullary masses in the thoracolumbar region, situated dorsal to the spinal cord. The median follow-up period was 7.5 years, and postoperative outcome reflected a patient's preoperative neurological status; in no patient was outcome worsened due to surgery. CONCLUSIONS: Complete excision of the neurenteric cyst remains the treatment of choice, as subtotal excision is associated with recurrence.

Adolescent↗

Recovery by mouse embryos following teratogenic exposure to ketosis.

Previous studies have shown that the ketone body D,L,-beta-hydroxybutyrate was teratogenic to mouse embryos exposed in culture during the period of neurulation. Inhibition of closure of the cranial and caudal neuropores was the most frequently occurring defect and these abnormalities were thought to be the forerunner of anencephaly and spina bifida, respectively. However, additional studies demonstrated that embryos could recover morphologically from these effects if the ketone body was removed from the culture medium and if the recovery period was of sufficient duration. In an attempt to define further the phenomenon responsible for this recovery and to determine the extent of the recovery process, the present study examining the cross-sectional area, cell number, and mitotic index of cranial neuroepithelial cells was conducted in mouse embryos cultured from the early somite stage under one of the following conditions: 1) control medium for 60 h; 2) medium containing 32 mmol/l D,L,-beta-hydroxybutyrate for 24 h followed by culture in control medium for an additional 36 h (recovery group); 3) medium containing 32 mmol/l D,L,-beta-hydroxybutyrate for 60 h (continuously exposed group). The results indicate that although neural tube closure occurred in the recovery group, complete recovery was limited to the ventral regions of the forebrain and that the remainder of the prosencephalon as well as the rhombencephalon failed to undergo complete catch-up growth. Thus, cell numbers in these areas were approximately 70% of control values. Therefore, while the gross anatomical disturbances produced by the ketone body may be compensated for, histological alterations in the affected tissues remain. Ultimately, these data suggest that neurological deficits may be an outcome of ketone body exposure during the early stages of embryogenesis.

3-Hydroxybutyric Acid↗

Hyperpigmentation in the Silkie fowl correlates with abnormal migration of fate-restricted melanoblasts and loss of environmental barrier molecules.

In most homeothermic vertebrates, pigment cells are confined to the skin. Recent studies show that the fate-restricted melanoblast (pigment cell precursor) is the only neural crest lineage that can exploit the dorsolateral path between the ectoderm and somite into the dermis, thereby excluding neurons and glial cells from the skin. This does not explain why melanoblasts do not generally migrate ventrally into the region where neurons and glial cell derivatives of the neural crest differentiate, or why melanoblasts do not escape from the dorsolateral path once they have arrived at this destination. To answer these questions we have studied melanogenesis in the Silkie fowl, which is a naturally occurring chicken mutant in which pigment cells occupy most connective tissues, thereby giving them a dramatic blue-black cast. By using markers for neural crest cells (HNK-1) and melanoblasts (Smyth line serum), we have documented the development of the Silkie pigment pattern. The initial dispersal of melanoblasts is the same in the Silkie fowl as in Lightbrown Leghorn (LBL), White Leghorn (WLH), and quail embryos. However, by stage 22, when all ventral neural crest cell migration has ceased in the WLH, melanoblasts in the Silkie embryo continue to migrate between the neural tube and somites to occupy the sclerotome. This late ventral migration was confirmed by filling the lumen of the neural tube with DiI at stage 19 and observing the embryos at stage 26. No DiI-labeled cells were observed in the sclerotome of LBL embryos, whereas in the Silkie embryos DiI-filled cells were found as far ventral as the mesentery. In addition to this extensive ventral migration, we also observed considerable migration of melanoblasts from the distal end of the dorsolateral space into the somatic mesoderm (the future parietal peritoneum), and into the more medioventral regions where they accumulated around the dorsal aorta and the kidney. The ability of melanoblasts in the Silkie embryos to migrate ventrally along the neural tube and medially from the dorsolateral space is correlated with a lack of peanut agglutinin (PNA) -binding barrier tissues, which are present in the LBL embryo. The abnormal pattern of melanoblast migration in the Silkie embryo is further exaggerated by the fact that the melanoblasts continue to divide, as evidenced by BrdU incorporation (but the rate of incorporation is not greater than seen in the LBL). Results from heterospecific grafting studies and cell cultures of WLH and Silkie neural crest cells support the notion that the Silkie phenotype is brought about by an environmental difference rather than a neural crest-specific defect. We conclude that melanoblasts are normally constrained to migrate only in the dorsolateral path, and once in that path they generally do not escape it. We further conclude that the barriers that normally restrain melanoblast migration in the chicken are not present in the Silkie fowl. We are now actively investigating the nature of this barrier molecule to complete our understanding of melanoblast migration and patterning.

Animals↗

Heat-shock gene expression and cell cycle changes during mammalian embryonic development.

Synchronized regulation of cell division during gastrulation is essential for the regional proliferation of cells and pattern formation of the early CNS. The neural plate and neuroectoderm cells are a rapidly dividing and differentiating population of cells with a unique and rapid heat-shock response. Heat shock and the heat-shock genes were studied during neural plate development in a whole rat embryo culture system at 9.5-11.5 days. A lethal shock can cause cell death and severe developmental defects to the forebrain and eye during organogenesis. Heat shock can also result in acquired thermotolerance whereby cell progression is delayed at the G1/S and S/G2 boundaries of the cell cycle. This delay in cell cycle progression caused an overall lengthening of the cell cycle time of at least 2 hr. The heat shock genes may therefore function as cell cycle regulators in neuroectoderm induction and differentiation. The kinetics and expression of the hsp genes were examined in neuroectodermal cells by flow cytometry and Northern analysis. The levels of hsp mRNA 27, 71, 73, and 88 were identified following exposure at 42 degrees C (nonlethal), 43 degrees C (lethal) and 42 degrees/43 degrees C (thermotolerant) heat shock. Examination of hsp gene expression in the neural plate showed tight regulation in the cell cycle phases. Hsp 88 expression was enhanced at Go and hsp71 induction at G2 + M of the cell cycle. Cells exposed to a thermotolerant heat shock of 42 degrees C induced hsp71 mRNA expression in all phases of the cell cycle with the mRNA levels of hsp27, 73, and 88 increased but relatively constant. Following a lethal heat shock, dramatic changes in hsp expression were seen especially enhanced hsp71 induction in late S phase. The regulated expression of hsps during the cell cycle at various phases could play a unique and important role in the fate and recovery of neuroectoderm cells during early mammalian embryo development.

Animals↗

Beauty is skin deep: the fascinating biology of the epidermis and its appendages.

A number of fascinating questions remain unaddressed in the realm of skin biology. We still know very little about the mechanisms that set up the patterning of hair follicles over the surface ectoderm, or about the precise signalling pathways involved in mesenchymal-epithelial interactions during hair development and differentiation. Studies over the past 10 years have implicated both the notch and sonic hedgehog pathways in these processes (Chen et al., 1997; Chiang et al., 1999; Crowe et al., 1998; Kopan and Weintraub, 1993; Nohno et al., 1995; Oro and Scott, 1998; Powell et al., 1998; St. Jacques et al., 1998). Furthermore, we know that members of the fibroblast growth factor and bone morphogenic protein families are also involved in mesenchymal-epithelial cues required for follicle morphogenesis, hair cycling, and/or follicle differentiation (Hebert et al., 1994; Jung et al., 1998; Kratochwil et al., 1996; Noramly and Morgan, 1998; Rosenquist and Martin, 1996; Song et al., 1996). However, it is not clear precisely how these pathways and factors are involved and how they might also interact with the wnt pathway in regulating hair follicle patterning and morphogenesis. These areas are currently centers of activity in the field, and answers will undoubtedly emerge with the flurry of new experiments presently being conducted. Another important issue is the residence of stem cells within the skin. While it is clear that the epidermis contains a population of cells with extraordinary proliferative capacity (Jones and Watt, 1993; Jones et al., 1995), their precise location in most body regions of the skin remains unclear. Similarly, while the bulge hypothesis has received considerable attention and support as the residence of the hair follicle stem cells (Cotsarelis et al., 1989; Lavker et al., 1993), the outer root sheath and the matrix of the follicle have also been postulated as potential homes for these critical cells (Oliver and Jahoda, 1988; Rochat et al., 1994). An equally challenging issue for the future is the extent to which skin stem cells might retain pluripotency, able to choose between an epidermal or hair follicle cell fate. Our recent studies implicating a Wnt pathway provide a starting point for exploration. I have discussed a number of recent insights that have surfaced concerning transcriptional regulation in the epidermis. Additionally, besides Lef1/beta-catenin, there are a number of transcription factors that have been identified that are likely to regulate key aspects of hair follicle differentiation and gene expression. The most interesting of these include a member, Whn, of the winged-helix transcription factors, recently been shown to be the defect underlying the nude mouse phenotype (Nehls et al., 1994; Segre et al., 1995) and the zinc finger transcription factor responsible for the hairless phenotype in mice and in humans (Ahmad et al., 1998; Cachon-Gonzalez et al., 1994). A major area for future study will be to elucidate the upstream and/or downstream targets of Lef1/beta-catenin, hairless, and whn. Let me close by returning to the issues of structure and function in the skin and to the underlying genetic basis of skin disorders. It is surprising that despite nearly 20 years of molecular genetics and its application to skin biology, we still know very little about the molecules and pathways involved in the acquisition of the epidermal barrier, the very purpose of the epidermis. Biochemical studies have given us clues as to the most important lipids involved (for review, see Proksch et al., 1993), and recent studies suggest that barrier function may in part be regulated through action of the steroid hormone superfamily of receptors (Attar et al., 1997; Hardman et al., 1998). A major research effort is now needed to begin to decipher the transcriptional regulation and the complex pathways involved in lipid synthesis and packaging. (ABSTRACT TRUNCATED)

Animals↗

Low mutagenic effects of mitomycin C in undifferentiated embryonic P19 cells are correlated with efficient cell cycle control.

Pluripotent undifferentiated embryonic carcinoma cells of line P19 and their differentiated progeny, epithelioid ectoderm-like EPI-7 cells, showed different responses to mitomycin C (MMC) with respect to induction of micronuclei, mutations at the HPRT-locus and cell cycle control. Cytotoxic effects of MMC after a 5-h treatment were lower in undifferentiated P19 cells than in differentiated EPI-7 cells with IC50 values of 1.3 and 0.25 microM for P19 and EPI-7 cells, respectively. MMC did not induce 6-thioguanine-resistant mutants in P19 cells but significantly increased the mutation frequency in EPI-7 cells with concentrations of 0.25, 0.5 and 1.0 microM MMC. Micronuclei determined by flow-cytometry were induced by MMC in both cell lines at equitoxic concentrations of 4.5 (P19) and 0.75 (EPI-7) microM, reducing the viability in both cell lines to 10%. Whereas the induction of micronuclei in P19 cells was maximal 28 h after treatment and declined thereafter, micronucleus induction peaked 48 h post treatment in EPI-7 cells and remained significantly increased even 67 h after the treatment. Flow-cytometric determination of the distribution of MMC-treated P19 and EPI-7 within the cell cycle revealed a distinct G2/M-block in P19 cells, whereas EPI-7 cells showed normal progression through S-phase and a negligible G2/M-block. Therefore, we conclude that the lower effectivity of MMC to induce gene mutations and micronuclei in P19 cells seemed to be correlated with a more efficient cell cycle control in undifferentiated compared to differentiated EPI-7 cells.

Animals↗

Domains of retinoid signalling and neurectodermal expression of zebrafish otx1 and goosecoid are mutually exclusive.

Retinoid signalling plays an important role in embryonic pattern formation. Excess of retinoic acid during gastrulation results in axial defects in vertebrate embryos, suggesting that retinoids are involved in early anteroposterior patterning. To study retinoid signalling in zebrafish embryos, we developed a novel method to detect endogenous retinoids in situ in embryos, using a fusion protein of the ligand inducible transactivation domain of a retinoic acid receptor and a heterologous DNA binding domain. Using this method, we show that retinoid signalling is localized in zebrafish embryos in the region of the embryonic shield, and towards the end of gastrulation in a posterior dorsal domain. To investigate the relationships between the spatial distribution of retinoid signalling and the regulation of retinoid target genes, we studied the downregulation by retinoic acid of two genes expressed in anterior regions of the embryo, goosecoid and otx1. These experiments show that expression of both genes is strongly downregulated in the anterior neurectoderm of zebrafish embryos treated with retinoic acid, whereas mesendodermal expression is only mildly affected. Interestingly, a significant downregulation of goosecoid expression by retinoic acid was observed only during midgastrulation but not in earlier stages. In agreement with these results, spatial expression of goosecoid and otx1 does not overlap with the region of retinoid signalling in the late gastrula. Our data support the hypothesis that a localized retinoid signal is involved in axial patterning during early development, at least in part through the repression of anterior genes in posterior regions of the embryo. Furthermore, our data suggest that the action of retinoids is spatially as well as temporally regulated in the developing embryo.

Animals↗

Bone marrow failure: pathophysiology and management.

Morphologically, bone marrow is made up of a relatively mature but heterogenous population, fueled by a tiny pool of microscopically unrecognizable stem and progenitor cells. This complex tissue has the responsibility of maintaining our hematopoietic and, to a large extent, immunologic integrity, both of which are indispensable for health and, indeed, survival. Perhaps not surprisingly, bone marrow is the target of genetic, autoimmune, and environmental insults. Although robust, it has only a limited number of responses, one of which is reduction in cellular output, sometimes with superimposed qualitative abnormalities, and this is defined as bone marrow failure. Bone marrow failure is a diverse entity but can be logically explained and classified on a pathophysiologic basis. Thus the major recognizable categories of bone marrow failure are congenital and acquired defects. Each of these is subdivided according to the number of cell lines involved, over and above which the severity of the damage will determine reversibility. In each case, the natural history dictates management, and this ranges from short-term growth factor support to biologic immune response modulation and finally to bone marrow transplantation. In the past, many clinicopathologic variants of bone marrow failure were described, although their etiology was obscure and effective therapy was unavailable. This changed dramatically, however, when experimental hematologists, using radiobiology models, uncovered the dynamic nature of blood formation. Cardinal observations included the way in which spontaneous recovery followed irradiation, the central role played by pluripotential stem cells, and the integral participation of stroma in modulating this entire process. Understanding was refined once bone marrow cultures became available while, in parallel, the use of in-bred mouse strains launched the era of allogeneic transplantation. These approaches were combined, and the broad principles that govern basal or constitutive production emerged. Stem cells, with their characteristic commitment to self-renewal, exist at the apex of a hierarchy and generate a tier of proliferating progenitors that, in turn, give rise to a large postmitotic compartment of precursors that mature into distinctive myeloid and lymphoid lineages. The reserve potential is enormous, and output can be induced to meet even greatly increased demands. These events reflect the interaction of growth factors with a balancing set of negative regulators. The link between such diverse functions resides, to a large extent, in accessory cells and matrix geographically organized in what is now described as the hematopoietic inductive microenvironment. Many details of these meticulously orchestrated processes are obscure.(ABSTRACT TRUNCATED AT 400 WORDS)

Agranulocytosis↗

Congenital lumbosacral lipomas.

Congenital lumbosacral lipomas can be responsible for progressive defects. The general feeling is that tethering of roots, filum, or cord probably explains this evolution, and that untethering of these structures could prevent late deterioration. Like the vast majority of neurosurgeons, we too have routinely and systematically operated on lumbosacral lipomas, even in the absence of neurological deficits. This policy stemmed from our belief that spontaneous neurological deterioration was frequent, recovery from preoperative deficits rare, and surgery both efficient and benign in nature. After 22 years of experience, we felt that it was necessary to review our series of 291 lipomas (38 lipomas of the filum and 253 of the conus) operated on from 1972 to 1994. To reassess the value of prophylactic surgery, we attempted an accurate evaluation of (1) the risk of pathology, (2) the risks involved in surgery, (3) the postoperative outcome with respect to preoperative deficits, and (4) the postoperative outcome in asymptomatic patients at 1 year and at maximum follow-up. Special attention was paid to 93 patients whose postoperative follow-up was more than 5 years (average 8.7, median 8, range 5-23 years). Of these 93 patients, 39 were asymptomatic preoperatively (7 with lipoma of the filum and 32 with lipoma of the conus). Lipomas of the filum and of the conus are entirely different lesions and were studied separately. In 6 cases prenatal diagnosis had been possible. The mean age at surgery was 6.4 years. Low back skin stigmata were present in 89.4% of cases. Preoperative neurological deficits existed in 57% of the patients and were congenital in 22%. Clinical signs and symptoms recorded were pain in 13.3% of the patients and/or neurological deficits affecting sphincter (52%), motor (27.6%) and sensory (22.4%) functions. Deficits were progressive in 22.4% of cases, slowly progressive in 58.8% of these and rapidly progressive in the remaining 41.2%. In 36 patients (13.2%) the lipomas were seen to grow either subcutaneously or intraspinally. Among these patients, 21 were infants, 2 were obese adolescents, and 10 were pregnant women. The metabolism of the fat within the lipomas was studied in 11 patients and found to be similar to that at other sites. Lipomas were associated with various other malformations, either intra- or extraspinal. These associated anomalies were rare in the case of lipomatous filum (5.2%) but frequent with lipomas of the conus, except for intracranial malformations (3.6%). Therapeutic objectives were spinal cord untethering and decompression, sparing of functional neural tissue and prevention of retethering. Procedures used to achieve these goals were subtotal removal of the lipoma, intraoperative monitoring, duroplasty, and sometimes closure of the placode. Histologically, lipomas consisted of normal mature fat. However, 77% of them also included a wide variety of other tissues, originating from ectoderm, mesoderm, or entoderm. This indicates that lipomas are either simple or complex teratomas. The results of the study are as follows. (1) Surgery was easy and safe when performed for treatment of lipomas of the filum (no complications), but difficult and hazardous in the case of lipomas of the conus (20% local, 3.9% neurological complications). (2) All types of deficit could be improved by surgery, which was beneficial in all cases of lipoma of the filum and 50% of cases of lipoma of the conus. (3) In asymptomatic patients long-term surgical results depended on the anatomical type of the lipoma. They were excellent in lipomas of the filum. In lipomas of the conus they were good in the short term but eroded with time. At more than 5 years of follow-up only 53.1% of the patients were still free of symptoms. (4) Reoperations were performed in 16 patients (5.5%), 5 (31.2%) of whom improved postoperatively, while in 7 (43.7%) progression stopped, in 3 (18.7%) deterioration continued and in 1 (6.2%) the condition was wor

Adolescent↗