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17. Dermal sinus. Ruptured sinus wall evoked inflammatory reaction containing histiocytes and foreign body giant cells (HE, ×200 original magnification)
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Spina bifida occulta results from incomplete closure of the neural tube around the twentieth day of embryonic development
[1]. Spina bifida was described in the medieval literature and was recognized even earlier. Indeed, the association of foot
deformities with sacral hypertrichosis may be the origin of the mythological figure of the satyr [2]. Th...
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This study aimed to explore the clinical features and outcomes of children with spinal cord injury (SCI) without fracture or dislocation.Methods
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Background: The aim of the current study was to find out if spinal ultrasonography might have a predictive potential for detection of spina bifida occulta (SBO) in pediatric nocturnal enuresis patients.
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Citations
... The histological analysis of the prolapsed tonsils and cerebellar tissue reveals atrophy and gliosis. The atrophy results from depletion of Purkinje and granule cells and absent/reduced myelination of the fibers composing the cerebellar folia (Sav 2008). In the brainstem, a distortion of tracts and nuclei is common as well as hypoplasia or dysgenesis/agenesis of cranial nerve and pontine nuclei (Gilbert et al. 1986). ...
... The first finding was spina bifida occulta on the sacrum. Although the earliest description of bifid spine was published in 1610, and Virchow first described spina bifida occulta in 1875 (Simalcsik et al., 2011), the classification of spinal dysraphism, including bifid spine, was not conceived until 2008 by Sav (2008). He classified spinal dysraphism into three categories: spina bifida cystica, aperta, and occulta. ...
... He classified spinal dysraphism into three categories: spina bifida cystica, aperta, and occulta. Spina bifida cystica involves myelomeningocele or meningocele; spina bifida aperta involves lesions communicating with the environment; and, spina bifida occulta indicates a hidden form of spinal dysraphism with anomalies located at the bottom of the spine (Sav, 2008). The etiology of this disease is yet unknown, but potential causative factors include the lack of folic acid in pregnancy (MRC Vitamin Study Research Group, 1991), maternal nutritional status, teratogenic factors and genetic factors (Lovett & Gatrell, 1988). ...
The virtual autopsy and post-mortem imaging methods are relatively novel methods used in medicine to determine cause and manner of death. They can also be exceptionally useful in the process of identification. Although they have numerous advantages, they are still not implemented in practice to a sufficient extent because the methodology has not yet been validated, and studies that deal with legal and practical implications of those methods are relatively scarce. In this article we describe basic principles and advantages of the methodology, explore related legal and practical issues, and present a case of virtual autopsy in practice on the mummified remains of St. Ivan Olini from Church of St. Blaise in Vodnjan (Croatia).Virtualna obdukcija in postmortalna metoda slikanja sta relativno novi metodi v medicini za ugotovljanje vzroka in načina smrti. Izjemno koristni sta lahko tudi v procesu identifikacije. Kljub številnim prednostim pa se v praksi še vedno ne izvajata v zadovoljivem obsegu, ker metodologija še ni potrjena, študije, ki se ukvarjajo s pravnimi in praktičnimi posledicami teh metod, pa so redke. V tem članku so opisana temeljna načela in prednosti metodologije, preučevana so pravna in praktična vprašanja ter predstavljen primer virtualne obdukcije v praksi na mumificiranih ostankih sv. Ivana Olinija iz cerkve sv. Blaža v Vodnjanu (Hrvaška).
... The histological analysis of the prolapsed tonsils and cerebellar tissue reveals atrophy and gliosis. The atrophy results from depletion of Purkinje and granule cells and absent/reduced myelination of the fibers composing the cerebellar folia (Sav 2008). In the brainstem, a distortion of tracts and nuclei is common as well as hypoplasia or dysgenesis/agenesis of cranial nerve and pontine nuclei (Gilbert et al. 1986). ...
... These two phenotypes are reminiscent of complex and varied conditions, such as pre-natal Arnold-Chiari and Dandy-Walker syndromes, or, conceivably, are related to the incipient embryonic stages of these syndromes. These features are rarely reported in human embryos [45], perhaps due to practical problems in the access to very early conceptuses. Consistent with this interpretation, Arnold-Chiari syndrome type two includes hydrocephalus of the fourth ventricle and is associated with myelomeningocele, which is a dysraphic disorder (see Fig 5B). ...
The teratogenic mechanisms triggered by ZIKV are still obscure due to the lack of a suitable animal model. Here we present a mouse model of developmental disruption induced by ZIKV hematogenic infection. The model utilizes immunocompetent animals from wild-type FVB/NJ and C57BL/6J strains, providing a better analogy to the human condition than approaches involving immunodeficient, genetically modified animals, or direct ZIKV injection into the brain. When injected via the jugular vein into the blood of pregnant females harboring conceptuses from early gastrulation to organogenesis stages, akin to the human second and fifth week of pregnancy, ZIKV infects maternal tissues, placentas and embryos/fetuses. Early exposure to ZIKV at developmental day 5 (second week in humans) produced complex manifestations of anterior and posterior dysraphia and hydrocephalus, as well as severe malformations and delayed development in 10.5 days post-coitum (dpc) embryos. Exposure to the virus at 7.5–9.5 dpc induces intra-amniotic hemorrhage, widespread edema, and vascular rarefaction, often prominent in the cephalic region. At these stages, most affected embryos/fetuses displayed gross malformations and/or intrauterine growth restriction (IUGR), rather than isolated microcephaly. Disrupted conceptuses failed to achieve normal developmental landmarks and died in utero. Importantly, this is the only model so far to display dysraphia and hydrocephalus, the harbinger of microcephaly in humans, as well as arthrogryposis, a set of abnormal joint postures observed in the human setting. Late exposure to ZIKV at 12.5 dpc failed to produce noticeable malformations. We have thus characterized a developmental window of opportunity for ZIKV-induced teratogenesis encompassing early gastrulation, neurulation and early organogenesis stages. This should not, however, be interpreted as evidence for any safe developmental windows for ZIKV exposure. Late developmental abnormalities correlated with damage to the placenta, particularly to the labyrinthine layer, suggesting that circulatory changes are integral to the altered phenotypes.
... This article focuses on SB aperta and not spina bifida occulta. SB aperta frequently results in long-term disability and includes 2 subtypes, namely, meningocele and myelomeningocele [2]. Increase in public awareness of the need for women to take folic acid supplements before and during pregnancy, as well as the early identification of the defect for women who undergo routine ultrasonography during pregnancy, have decreased both the intrauterine and birth prevalence of SB. ...
To compare emergency room (ER) and inpatient hospital (IP) use rates for people with spina bifida (SB) to peers without SB, when transition from pediatric to adult health care is likely to occur, and analyze those ER and IP rates by age, race, socioeconomic status, gender, and county type.
A retrospective cohort study SETTING: Secondary data analysis in South Carolina PARTICIPANTS: We studied individuals who were between 15-24 years old and enrolled in the State Health Plan (SHP) or state Medicaid during the 2000 - 2010 study period.
Individuals with SB were identified using ICD-9 billing codes (741.0, 741.9) in SHP, Medicaid, and hospital uniform billing (UB) data. ER and IP encounters were identified using UB data. Multivariable Generalized Estimating Equation (GEE) Poisson models were estimated to compare rates of ER and IP use among the SB group to the comparison group.
Total ER rate and IP rate, in addition to cause-specific rates for ambulatory care sensitive conditions (ACSC) and other condition categories.
We found higher rates of ER and IP use in people with SB compared to the control group. Among individuals with SB, young adults (20-24 year olds) had higher rates of ER use due to all ACSC (p=.023), other ACSC (p=.04), and urinary tract infections (UTI; p=.002) compared to adolescents (15-19 year olds).
Young adulthood is associated with increased ER use overall, as well as in specific condition categories (most notably UTI) in 15-24 year olds with SB. This association may be indicative of changing healthcare access as people with SB move from adolescent to adult health care, and/or physiologic changes during the age range studied.
Copyright © 2014 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.
... Most classifications are strictly based on the specific derangement of embryonic development. Spina bifida (SB) had been classified into several types (20) . (1) SB cystica which refers to either myelomeningocele (MMC) or meningocele (MC). ...
... (2) SB aperta, which involves lesions communicating with the environment (25) . SB occulta, which manifests as a concealed form of spinal dysraphism with few cutaneous stigmata of the underlying spinal anomaly (2,20) . A recent classification of spinal dysraphism was proposed by Tortori-Donati et al. (25) . ...
... A recent classification of spinal dysraphism was proposed by Tortori-Donati et al. (25) . In this classification, not only the cliniconeuroradiological correlations but also the importance of almost every lesion has been linked with the embryological aspects (20) .Essentially, dysraphic anomalies are divided as open spinal dysraphism (OSD) and closed spinal dysraphism (CSD) as the main categories and with the latter subdivided into two further subcategories: with or without a subcutaneous mass (25) . OSD comprises MMC, myelocele, hemimyelomeningolocele and hemimyelocele. ...
Objective: The purpose of the study both meningocele and myelomeningocele reviewing the clinical and pathological findings as well as to discuss the pathological diagnosis. Material and methods: Meningocel and myelomeningocele were retrived from the pathology files. Forty three cases with detailed clinical and radiological data were selected. Masson's trichrome performed on original sections from paraffin blocks. All sections from each case were reviewed. Results: There were 34 cases of myelomeningocele, 9 cases of meningocele. F/M ratio was 1.2 to 1. The age range of patients were from newborn to 4 months. 90% of cases were in the lumbosacral region. 31 cases of myelomeningoceles, and 3 cases of meningoceles were hydrocephalus. Chiari II malformation was seen in 88% of myelomeningocels and in 22% of meningoceles. Three patients had a clubfoot deformity. Microscopically, epithelial changes included ulceration, loss of appendages. Mesodermal findings included fibrosis (90% of cases), adipose tissue (62%), hypertrophic smooth muscle (18%), skeletal muscle (4%) and increased numbers of blood vessels (79%). Subepidermal calcification was noted in 2 cases. Neuroectodermal features, neuropil-like matrix and ependymal lining were noted in 34 and 15 cases respectively. Nerve fibers were identified varied from easily identifiable large myelinated nerve trunks to slightly increased numbers of fibers in 83% of the cases. Conclusion: Both clinical and pathological differences were seen among myelomeningoceles. These malformations involve ectoderm, neuroectoderm, and mesoderm. Definition of the pathological aspects of dysraphism will potentiate the understanding of these anomalies.
Segmental spinal dysgenesis is considered one of the rare types of congenital spinal malformations where there is agenesis or dysgenesis of the spinal cord. It more commonly affects the lumbar or thoracolumbar regions of the spine although it can affect any portion of the spine. It was believed that the defect in embryological development that leads to SSD was in primary neurulation, but data suggest now that these malformations occur in the stage of gastrulation. Patients with closed spinal dysraphism require extensive clinical assessment to suspect the presence of such conditions as they can often be entirely occult. For early detection of spinal congenital anomalies, prenatal screening provides a good opportunity for diagnosing and arranging the needed management plan by Spinal MRI or Ultrasound. Not only is MRI indicated for further characterizing the spine anomaly that is detected by US, but to also recognize any associated extracranial and cranial abnormalities that the ultrasound has not adequately evaluated and to confirm the diagnosis as a golden standard imaging modality prenatally and postnatally. Variety of clinical pictures could present. The variations are dependent on the degree of severity in addition to the level of defect and whether or not accompanied anomalies are present. The typical sign being a bony protuberance of kyphotic gibbus corresponding to the level of segmental abnormality. The degree of these neurological disorders depends on both the severity of spinal cord stenosis and how well the remaining segment of the spinal cord functions. The management plan also varies depending on many factors and an early surgical intervention is considered as one of the options that aim to establish and maintain the stability of the spine first and then relieving of cord compression which is recommended to maintain the balance of spinal growth and to avoid the development of rigid deformities and secondary structural curvatures.
We aimed to investigate the impact of existing genetic risk factors on the development of neural tube defect in children by evaluating MTHFR c677t, MTHFR a1298c, PAI-1, Factor II, and Factor V gene polymorphisms in patients with open spinal dysraphism
and in their healthy mothers.
The study sample comprised cases scheduled for surgery in our clinic due to open
spinal dysraphism and their healthy mothers. Mothers with a history of recurrent
abortion, consanguineous marriage, obesity and thrombophilia, as well as those with
a history of carbamazepine usage were excluded from the study with their children. A
blood sample of 2 cc was collected from each patient and from their healthy mothers
who was used in the deoxyribonucleic acid (DNA) analysis. The differences in allel and
genotype distributions between the patients and their healthy mothers were evaluated by the χ2 test.
A total of 34 individuals, 17 pediatric patients (Group 1) and their 17 healthy mothers
(Group 2), were included in this study. As MTHFR c677t polymorphism frequency was
higher in the Group 2 (p=0,024), MTHFR a1298c polymorphism frequency was higher
in the Group 1 (p>0,05). PAI-1 polymorphism frequency was higher in the Group 1,
whereas Factor II and Factor V polymorphism frequencies were similar in both groups.
In this study, although the healthy mothers were of normal phenotype, having heterozygous or mutant MTHFR c677t and a1298c genotype increases the risk of having
children with neural tube defect. In terms of genetic counseling, knowing the genotype and allel status of the mother prior to a planned pregnancy may decrease the risk
of having children with neural tube defect.
Key words: MTHFR, neural tube defect, healthy mother, genetic risc
Neural tube defects are congenital malformations that develop when the neural plate fails to close during embryogenesis. The most common open neural tube defect, myelomeningocele (MMC), is declining in frequency in North America. If identified, an MMC must be closed in the perinatal period to prevent lethal complications. Lesions presenting in older adults are, thus, very uncommon.
To describe the surgical management of an adult with an unrepaired ulcerated lumbosacral MMC presenting with persistent cerebrospinal fluid leakage and review the management strategies for adult patients with unrepaired MMC.
Case report METHODS: The patient was a 62-year-old woman with an unrepaired ulcerated lumbosacral myelomeningocele and associated lower extremity weakness. She sought medical care for persistent lumbar tenderness and ulceration after sustaining a fall four months prior to admission. Physical and radiological assessment revealed a lumbosacral myelomeningocele at the L5/S1 level and a tethered cord. Surgical resection of the placode and de-tethering were performed.
One week after repair, the patient was readmitted for management of continued cerebrospinal fluid leakage and hydrocephalus, requiring external ventricular drainage, wound revision, and placement of lumboperitoneal shunt. The patient experienced complete resolution of back pain without additional episodes of cerebrospinal fluid leakage.
This rare case and review of management strategies suggests that proper surgical management of open MMC in adulthood can successfully be performed and improve patient symptoms and prevent further complications.
Copyright © 2015. Published by Elsevier Inc.
Background/aims:
We aimed to investigate the relationship between corpus callosum dysgenesis (CCD) and associated asymptomatic closed spinal dysraphisms (CSDs).
Methods:
2,840 pediatric patients who were referred to our outpatient clinic between the years 2005 and 2013 with the diagnosis of microcephaly, macrocephaly, congenital hydrocephaly, epilepsy, mental-motor retardation and suspicion of intracranial mass were evaluated. Eighty-five patients were identified with a CCD by cranial magnetic resonance imaging (MRI). The 85 patients with CCD were evaluated by whole spinal vertebral MRI for possible CSD and the results were evaluated.
Results:
31/85 (36.4%) patients (20 males, 11 females) were detected to have radiological findings of CSD. The most common radiological finding was a low-lying conus medullaris, either alone, or as part of a multiple pathology in 26 of the 31 patients, followed by diastematomyelia in 16 of 31 cases and spinal lipoma in 4 of the 31 cases.
Conclusion:
When the neuroaxis emerges as a whole, the structures of embryological ectodermal origin and cranial and spinal structures are not independent regions from each other and thus, asymptomatic CSDs have been demonstrated to accompany CCD. In diseases of neural origin in which early diagnosis is of the utmost importance, each case with dysgenesis, diagnosed incidentally or during differential diagnosis, should be evaluated for possible CSD and should be treated with a multidisciplinary approach before any neurological deficit appears.
