Spina bifida, the normal, the pathological and the in-between: first evidence from a forensic osteological collection.

Spina bifida (SB), a rare congenital disorder, is often mentioned as an individualizing factor in Forensic Anthropology. A lack of empirical data regarding SB is noticed in the scientific literature. Moreover, within the scope of anthropological research on SB disparities in terminology, classification systems, and methodological approaches result in incomparable results. The wide range (1,2%-50%) of "spina bifida occulta" reported prevalences is a good example. This research aims to analyze and debate the standard diagnostic criteria of SB on human skeletal remains, and attempts to elaborate on an universal system, premised on the distinction between SB as a pathology, and cleft neural arch (CNA) as an anatomical variant, according to Barnes (1994, p. 360 [1). A study-base of 209 individuals (88 males; 121 females; 44-99 years old) from the 21st Century Identified Skeletal Collection from the University of Coimbra (CEI/XXI) was macroscopically analyzed, focusing on the sacrum and remaining vertebrae. Four individuals presented complete posterior opening of the sacral canal (2,6%[4/156]). The observed bone changes, combined with the analysis of the entire skeleton, indicate that CNA, rather than SB linked to a neural tube defect, is the most reliable explanation for these cases. Overall, CNA was observed on 11 skeletons (7.05% of 156). The viability and applicability of the developed methodology for the identification of SB/CNA in forensic and/or osteological contexts are discussed, as well as the possibility of a lower prevalence of SB occulta, in the general population, than speculated before. HIGHLIGHTS: • Spina bifida has been studied so far under different methodologies, classification systems and nomenclature, leading to unstandardized and incomparable data. • Spina bifida as a pathological manifestation of a neural tube defect, as opposed to cleft neural arch as a simple form of skeletal variation. • Both spina bifida and complete sacral cleft fit the criteria of an individualizing trait in Forensic Anthropology.

Epidemiological differences between the sexes in adolescent patients with lumbar spondylolysis: a single-institution experience in Japan.

BACKGROUND: Lumbar spondylolysis, a common identifiable cause of low back pain in young athletes, reportedly has a higher incidence rate in males. However, the reason for its higher incidence in males is not clear. This study aimed to investigate the epidemiological differences between the sexes in adolescent patients with lumbar spondylolysis. METHODS: A retrospective study was conducted in 197 males and 64 females diagnosed with lumbar spondylolysis. These patients visited our institution from April 2014 to March 2020 with their main complaint being low back pain, and they were followed-up until the end of their treatment. We investigated associations between lumbar spondylosis, their background factors, and characteristics of the lesions and analyzed their treatment results. RESULTS: Males had a higher prevalence of spina bifida occulta (SBO) (p = 0.0026), more lesions with bone marrow edema (p = 0.0097), and more lesions in the L5 vertebrae (p = 0.021) than females. The popular sports disciplines were baseball, soccer, and track and field in males, and volleyball, basketball, softball in females. The dropout rate, age at diagnosis, bone union rate, and treatment period did not differ between the sexes. CONCLUSION: Lumbar spondylolysis was more common in males than in females. SBO, bone marrow edema, and L5 lesions were more frequent in males, and sports discipline varied between the sexes.

The incidence of congenital lumbosacral malformations in young male Turkish military school candidates population.

BACKGROUND: During routine radiological examinations of the lumbar spine, congenital anomalies such as lumbosacral transition vertebra and scoliosis are frequently encountered in asymptomatic patients. They are not always associated with pathologies but have the potential to cause back pain in later times. The aim of this study is to analyze the prevalence of lumbar vertebral abnormalities in a group of young military school candidates who had no prior complaints. METHODS: We retrospectively evaluated the direct radiographs of asymptomatic young men aged between 17 and 22 applying between July 2018 and August 2018, for the routine check-up before becoming military school students. Exclusion criteria were prior history of low back pain for any reason, sciatica, neurogenic claudication, history of prior spinal surgery and history of a concomitant rheumatologic disease. All radiographs were evaluated for total lumbar vertebra number, morphology, presence of lumbosacral transitional vertebrae (LSTV), spina bifida occulta (SBO) and presence of lumbar and/or lumbar-elongated scoliosis. RESULTS: All 3132 patients were male and mean age was 18.37. Out of them, 887 (28.3%) had a congenital lumbo-sacral anomaly that they were not aware of. The most common anomaly we detected was SBO, in 16.2% of the cases followed by LSTV with 12.9% of the cases. Some of the applicants had more than one anomaly in their X-rays. CONCLUSION: Correct identification of a lumbar abnormalities is of great importance, especially before surgical procedures. It is a known fact that most wrong-level spine surgery occurs in patients with variant spine anatomy, including LSTV. Meticulous screening and analyses should be performed to all patients scheduled for spinal surgery in order to avoid peri-operative complications and unwanted final results.

Diastematobulbia type II without associated dermoid tumor: case report.

Split cord malformation (SCM) is a term used for all double spinal cords. It represents 3.8%-5% of spinal dysraphisms. Pang et al.'s embryological theory proposes the formation of an "accessory neurenteric canal" that communicates with the yolk sac and amnion. To the authors' knowledge, only three cases of diastematobulbia (basicranial SCM) associated with a spur or dermoid have been reported in the literature.The case patient is a newborn girl with an occipitocervical meningocele and dermal sinus associated with an anomaly of notochordal development in the transition between the medulla oblongata and the spinal cord (diastematobulbia) without a bony septum or dermoid cyst. The patient also has agenesis of the atlas and an absence of corticospinal tract decussation. This patient underwent reconstruction of the occipital meningocele and dermal sinus excision.To the authors' knowledge, this is the first described case of type II diastematobulbia (basicranial SCM), without a dermoid cyst. The authors analyzed the embryological errors present in the case patient and considered the option of further surgical treatment depending on the evolution of the patient's condition. At the time of this report, the patient had shown normal psychomotor development. However, this fact may only be due to the patient's young age. Considering that after initial untethering the patient remained clinically asymptomatic, conservative and close surveillance has been and continues to be the proposed treatment.

Sacral spina bifida occulta rare occurrence in Byzantine Belentepe population in Mugla, Turkey: A possible case for adequate folic acid intake.

Spina bifida may occur during the first weeks after conception; folic acid deficiency is strongly related to this anomaly. We argue that the low prevalence rate of spina bifida may indicate a relatively good nutrition state of a population, given that folic acid is found in many food products commonly eaten. The aim of this study is to examine the relationship between folic acid intake and spina bifida occulta prevalence in the Belentepe Byzantine population in Anatolian peninsula, and to compare the prevalence rates with various other ancient Anatolian populations by focusing on sacral spina bifida occulta in the Byzantine population. A total of 62 available human sacra were included in the study and compared with other sacra from relevant research using chi-squared test. Four male individuals had sacral spina bifida occulta with a prevalence rate of 6.45%, which is found to be lower in comparison to other ancient populations from western to eastern Anatolia. The present-day ecology of Belentepe indicates that foods rich with folic acid are common in and around the region. While some studies indicate the contrary, a comparison regarding the sacral spina bifida occulta prevalence with other populations in Anatolia shows a correlation between folic acid intake and proximity to a Mediterranean climate.

Dermoid sinus type VI associated with spina bifida and tethered cord syndrome in a French Bulldog.

A 4-mo-old French bulldog was presented with acute onset pain and reluctance to move. A tubular structure arising in the dorsal thoracic midline and extending from a cutaneous orifice into deeper tissues was palpated on physical examination. Computed tomography with sinography revealed a dermoid sinus associated with spina bifida at the level of T3-T4. On surgical exploration, the dermoid sinus was found to communicate with the dura. Histology confirmed the diagnosis and classification as a type VI dermoid sinus. The pain response and hyperesthesia were suspected to be the result of tethered cord syndrome. Complete resolution of clinical signs was appreciated post-surgery, with the patient still free of clinical signs 3 mo later.

Seno dérmico lumbar: consecuencias de un retraso diagnóstico / Lumbar dermal sinus: Consequences of a delayed diagnosis

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Lumbar pseudo-tail associated with dermal sinus - A case report.

BACKGROUND: Lumbosacral and coccygeal skin covered appendages are a rare malformation, considered human-tails. CASE REPORT: The authors describe the case of a full term newborn girl with lumbar skin appendage and a normal neurologic examination. The magnetic resonance of the spine revealed a dermal sinus continuous with the skin appendage and with extension into to the spinal canal. Due to the infection risk, a surgery was performed on the third day of life, with dermal sinus ligation and appendage removal. At 12 months of follow-up the girl has a normal neurologic examination. CONCLUSIONS: With the description of this case the authors aim to emphasize that although rare, lumbar skin appendages can be associated with spinal dysraphism and other lesions, requiring extensive work-up and long-term surveillance.

The Human Tail: A Simple Skin Appendage or Cutaneous Stigma of an Anomaly?

AIM: The human tail is a term to describe skin-covered protrusions in the lumbosacral and coccygeal region, ascribing to the resemblance to the tails in the animals. The first reports dates back to second half of the 19th century, the etiological bases could not been ascertained yet. They are mainly classified as true or pseudo-tails. MATERIAL AND METHODS: Five cases with human tails were diagnosed and managed in our hospital between 2010 and 2014. Their demographic and lesion characteristics are presented. RESULTS: Three of the 5 cases were male patients. The ages ranged between 1 day and 50 years at the time of diagnosis. The patients were diagnosed basically by the external appearance of the lesions without neurological deficits. Detailed examination revealed several associated lesions: two dermal sinus tracts, one tethered spinal cord and one club-foot in one-day preemie. Two patients had true and 3 had pseudo-tails. Four of them underwent surgery but the last one did not accept surgery. Surgery consisted of simple excision of the lesion in 2 patients with true tails and excision and removal of dermal sinus tract and untethering when necessary in the other 2 pseudo-tails. CONCLUSION: The presented study indicated that true human tails are simple skin appendages without any associated spinal anomalies. However, pseudo-tails are potentially complex lesions with a high risk of spinal dysraphisms; warranting further diagnostic work-up and more extensive surgical technique if necessary. The key to managing human tails is making a clear distinction between true tails and pseudo-tails.

Intramedullary spinal cord abscess: The result of a missed congenital dermal sinus.

Congenital dermal sinus (CDS) and occult spinal dysraphism are suspected when a cutaneous marker overlies the spine of a newborn. CDS can have the appearance of a simple dimple and occur within the gluteal cleft without any skin markers. CDS are the commonest cause of intramedullary spinal cord abscess.

MR-based morphometry of the posterior fossa in fetuses with neural tube defects of the spine.

OBJECTIVES: In cases of "spina bifida," a detailed prenatal imaging assessment of the exact morphology of neural tube defects (NTD) is often limited. Due to the diverse clinical prognosis and prenatal treatment options, imaging parameters that support the prenatal differentiation between open and closed neural tube defects (ONTDs and CNTDs) are required. This fetal MR study aims to evaluate the clivus-supraocciput angle (CSA) and the maximum transverse diameter of the posterior fossa (TDPF) as morphometric parameters to aid in the reliable diagnosis of either ONTDs or CNTDs. METHODS: The TDPF and the CSA of 238 fetuses (20-37 GW, mean: 28.36 GW) with a normal central nervous system, 44 with ONTDS, and 13 with CNTDs (18-37 GW, mean: 24.3 GW) were retrospectively measured using T2-weighted 1.5 Tesla MR -sequences. RESULTS: Normal fetuses showed a significant increase in the TDPF (r = .956; p<.001) and CSA (r = .714; p<.001) with gestational age. In ONTDs the CSA was significantly smaller (p<.001) than in normal controls and CNTDs, whereas in CNTDs the CSA was not significantly smaller than in controls (p = .160). In both ONTDs and in CNTDs the TDPF was significantly different from controls (p<.001). CONCLUSIONS: The skull base morphology in fetuses with ONTDs differs significantly from cases with CNTDs and normal controls. This is the first study to show that the CSA changes during gestation and that it is a reliable imaging biomarker to distinguish between ONTDs and CNTDs, independent of the morphology of the spinal defect.

Congenital dermal sinus tract of the spine: experience of 16 patients.

Congenital dermal sinus tract is a rare entity which lined by epithelial cells and can end anywhere between subcutaneous planes to thecal sac. These tracts may be accompanied with other pathologies such as lipomyelomeningocele, myelomeningocele, split cord malformation, tethered cord, filum abnormality and inclusion tumors and treatment includes resection of tract with intradural exploration. The authors review their experience with 16 cases. Clinical, radiological appearance and treatment of these lesions discussed with literature review.

Spinal diastematomyelia: a means of identification of charred remains.

The purpose of medico legal autopsy examination is the positive identification of the deceased in addition to the determination of the cause of death in most jurisdictions and additionally the manner of death in many jurisdictions. Notwithstanding the established and recognised value of DNA analysis in human identification, in the case of significant and extensive thermal injury in victims of fire, DNA analysis may prove difficult. Fire fatality identification can be assisted by alternative methods in this situation, including correlation between ante mortem and post mortem radiological investigations, identification of rare medical disease and or dental record examinations, where available. We describe a case where identification of charred human remains from a car fire was securely determined by demonstration of the presence of a rare congenital abnormality of the spinal cord, Diastematomyelia.

How innocent is corpus callosum dysgenesis?

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.

Lumbo-sacral malformations and spina bifida occulta in medieval skeletons from Brittany.

INTRODUCTION: Compared with the other French regions, the incidence of neural tube defects is raised in Brittany. It can be explained by the Celtic origin of the Britton people, who migrated from Great Britain in the High Middle Ages. Notwithstanding, there are no historical or archeological evidences of the occurrence of these pathological conditions in medieval Brittany. MATERIALS AND METHODS: We investigated the incidence of lumbo-sacral malformations on the skeletal remains of 30 individuals excavated from the necropolis of Saint-Urnel (southwest Brittany). RESULTS: We found out several anatomical variations among five specimens, three of which had spinal dysraphism involving the sacrum. CONCLUSION: Our results enrich the very few paleopathological data about spinal dysraphism, from the Hippocratic Corpus to the first description of Spina Bifida in sixteenth century. But, their interpretation remains delicate until the same genetic factors are shown in the etiology of both open and closed spinal dysraphism.

Congenital spinal cord anomalies: a pictorial review.

Development of spinal canal and its contents occurs in a much regulated fashion. Aberration at any stage of development namely gastrulation, primary neurulation, secondary neurulation, and retrogressive differentiation can result in a specific abnormality. Spinal cord anomalies or spinal dysraphism is a heterogeneous group containing some entities that are obvious at birth and many that are discovered only after imaging for neurological symptoms or signs. Congenital spinal tumors are closely related and present either as an external mass or imaging abnormalities. Radiological imaging plays a crucial role in both diagnosis and postoperative evaluation of these patients. Magnetic resonance imaging is the modality of choice. Computed tomography is used in a limited fashion. Plain radiographs are the initial imaging in patients presenting with abnormal curvatures of spine. No other central nervous system abnormality requires as systematic an approach as spinal dysraphism. The authors present a review of both common and rare anomalies that they encountered for a 3-year period in their institute, a tertiary care level hospital.