Caudal Regression Syndrome First Diagnosed in Adulthood: A Case Report and a Review of the Literature.

Background: Caudal regression syndrome (CRS) is a rare congenital malformation characterized by incomplete development of the lower spine and spinal cord. Its estimated incidence ranges from 1 to 2 per 100,000 live births, leading to a spectrum of clinical presentations. Although most cases are diagnosed during childhood, only a small number of cases have been documented in adults in the medical literature. Case Report: A 27-year-old woman underwent an outpatient magnetic resonance imaging (MRI) of the thoracolumbar spine due to severe lower back pain experienced for the first time. Despite congenital leg abnormalities and multiple childhood surgeries, no further investigations were conducted at that time. MRI revealed congenital anomalies consistent with CRS, including coccygeal agenesis, L5 sacralization, and spinal cord defects. The patient also had a long-standing pilonidal cyst treated conservatively, now requiring operative treatment due to an abscess. Conclusions: This report underscores a rare case of CRS initially misdiagnosed and mistreated over many years. It emphasizes the importance of considering less common diagnoses, especially when initial investigations yield inconclusive results. This clinical case demonstrates a highly valuable and educative radiological finding. In the literature, such cases with radiological findings in adults are still lacking.

Cervical Diastematomyelia: A Case Presentation and Systematic Review.

Diastematomyelia is a rare congenital disorder characterized by the separation of the spinal cord by an osseocartilaginous or fibrous septum. While diastematomyelia has been reported to be more common in the thoracic and lumbar regions, the true incidence of cervical diastematomyelia is currently unknown. In this study, we conducted the most comprehensive systematic review to date of all other case reports of diastematomyelia to better characterize the incidence of cervical diastematomyelia and provide comprehensive statistics on the clinical characteristics of diastematomyelia generally. Ninety-one articles were included in our study, which comprised 252 males (27.9%) and 651 females (72.0%) (and one patient with unspecified gender). In 507 cases, the vertebral level of the diastematomyelia was described, and we recorded those levels as either cervical ( n = 8, 1.6%), thoracic ( n = 220, 43.4%), lumbar ( n = 277, 54.6%), or sacral ( n = 2, 0.4%). In 719 cases, the type of diastematomyelia was specified as either Type I ( n = 482, 67.0%) or Type II ( n = 237, 33.0%). Our study found that diastematomyelia has been reported in the cervical region in only 1.6% of cases, and we provide comprehensive data that this disorder occurs in female-to-male ratio of approximately 2.6:1 and Type I versus Type II diastematomyelia in an estimated ratio of 2:1.

Quality of Life of Children Treated for Split Cord Malformation.

OBJECTIVE: Split cord malformation (SCM), associated with neurologic deficits, necessitates surgical intervention for spinal cord detethering. Limited evidence exists regarding its impact on children's quality of life. Our study aims to evaluate the postoperative quality of life in children treated for SCM. METHODS: This retrospective cohort study examined records of patients with SCM operated on between July 1, 2012, and July 31, 2022, at a single center. Data, including Health Utility Index-3 (HUI-3) scores provided by guardians, was collected to assess quality of life. Clinical and neurologic outcomes were also analyzed. RESULTS: Twenty-five patients, predominantly female (68%), with a median age of 7 years, were included. Most presented with normal motor function (76%). The most common anatomic level of SCM was lumbar (12; 48%) followed by lumbosacral (5; 20%). A bony spur from the lamina was the most common cause of splitting the cord (64%). Over a median follow-up of 3.3 years, 64% of patients showed neurologic stability, 16% showed neurologic improvement, and 4% experienced deterioration. The mean HUI-3 score for 21 children was 0.93 ± 0.24. CONCLUSIONS: Surgical management of SCM showed favorable neurologic outcomes and a positive long-term quality of life, as shown by HUI-3 scores. Our findings emphasize the efficacy of surgical intervention in improving the lives of children with this condition.

A Case of Type 2 Diastematomyelia With Spina Bifida in a Pediatric Female Patient.

This case report presents the clinical and radiological findings of a seven-year-old female with type 2 diastematomyelia and spina bifida, emphasizing the complexity of congenital spinal anomalies in pediatric patients. The patient presented with a two-month history of lower back pain, prompting diagnostic investigations. Radiographic examination revealed spina bifida at the L3-L5 levels, subsequently confirmed by magnetic resonance imaging (MRI), which disclosed bifid spinous processes, an absent posterior arch, and a split spinal cord terminating at the L3-L4 disc levels. The Vancouver classification system facilitated a standardized characterization of congenital spinal anomalies. The multidisciplinary approach involving orthopedic and neurosurgical specialists led to a conclusive diagnosis of type 2 diastematomyelia with simple spinal dysraphism. Surgical intervention, encompassing laminectomy and correction of the split spinal cord, was successfully performed, resulting in the stabilization of the patient. This case underscores the importance of early diagnosis, advanced imaging modalities, and collaborative management in addressing rare congenital spinal anomalies. The discussion delves into the clinical implications, diagnostic challenges, and the pivotal role of surgical intervention. Insights from this case contribute to the existing literature, guiding healthcare professionals in understanding and managing similar cases with potential implications for future research and treatment strategies.

Correction of cervical kyphoscoliosis, bisected spinal cord, and vertebral artery to epidural vein fistula in neurofibromatosis type 1.

Neurofibromatosis-1 (NF1) presents complex challenges due to its multisystemic effects, including kyphoscoliosis, dural ectasia, and arteriovenous fistulas (AVF). We present a case of a 31-year-old male with NF1 exhibiting severe cervical kyphoscoliosis, dural ectasia, a bisected cervical cord, and an arteriovenous fistula, highlighting the intricacies of managing such intricate cases. Rapid weakening in the patient's right arm and leg prompted imaging revealing severe cervical kyphotic deformity and a dural fold dividing the spinal cord. Surgical intervention addressed a high-flow arteriovenous fistula involving the right vertebral artery and an epidural vein, necessitating sacrifice of the artery. Posterior fusion and laminectomy were performed, resulting in stable neurological status postoperatively and significant improvement in sensory loss and weakness at three months. This case underscores the importance of a tailored posterior-only approach, involving dural fold release, to allow the spinal cord to relocate to a less tense position, thus demonstrating effective decompression in complex NF1 cases with concurrent kyphotic deformity and vertebral artery AVF.

Contiguous diastematomyelia with tethered cord, intradural extramedullary dermoid tumor, and lipomyelomeningocele: A unique case of spinal dysraphism.

Diastematomyelia, tethered cord, intradural extramedullary dermoid tumor and lipomyelomeningocele such disease entities themselves are rare in their own form and concurrent presentation of all those pathological states in a single individual can be considered one of the rarest forms of spinal dysraphism globally. Moreover for prompt management with optimal prognosis needs refined neurosurgical intervention guided by intraoperative neuromonitoring so as to bring about the best quality of life in the patient.

Prenatal diagnosis of meningomyelocele resolves as a mature cystic teratoma in the thoracolumbar region.

A mature cystic teratoma is a mass with heterogeneous appearance, consisting of adult tissue with two or three layers: endoderm, mesoderm, and ectoderm. It is a rare, benign transformation of somatic tissue most commonly found in the sacrococcygeal region and may resemble an uncomplicated spina bifida on prenatal ultrasonography. In this case report, we describe a female newborn with an extremely rare mature cystic teratoma in the thoracolumbar region. She presented prenatally with a preliminary diagnosis of meningomyelocele, diastematomyelia, and Chiari II malformation and a possible teratoma. However, a mass containing solid glandular tissues and bony calcifications approximately 3 × 4 cm in size was observed in the thoracolumbar region upon birth. During surgical resection, no nerve roots were found in the associated meningocele. The patient retained full lower body function postoperatively following surgical excision of the thecal sac and teratoma.

Preliminary Experience with 3-Dimensional-Exoscopic Untethering of a Type II Diastematomyelia: Technical Note and Review of the Literature.

OBJECTIVE: To describe the use of a high-definition 3-dimensional (3D) exoscope (VITOM 3D exoscope; KARL STORZ GmbH) for the neurosurgical treatment of a rare pediatric disease, type II diastematomyelia with associated tethered cord. METHODS: A 13-year-old girl who presented with diastematomyelia type II with a tethered cord was surgically treated with the aid of a high-definition 3D exoscope, with a third operator moving and pivoting its arm. Intraoperative monitoring and mapping were arranged. The surgery required a bilateral access to address both the split cord malformation and the tethering of the filum terminale. The filum terminale was identified and cut, and the connective fibrovascular tissue separating the 2 medullary halves was unraveled. These steps were performed with no changes of intraoperative monitoring. Pertinent literature was addressed carefully. RESULTS: The surgery was successful, and the patient was discharged home on the eleventh postoperative day without any complications. The 3-month postoperative magnetic resonance imaging scan demonstrated regular surgical outcomes; no dynamic motor disturbances were reported. To our knowledge, this is the first spinal congenital malformation treated with the use of a 3D exoscope. CONCLUSIONS: The use of 3D exoscope is advancing in spinal surgery, as it provides magnification, stereopsis, lighting, and definition comparable with the operating microscope; the addition of a third operator simplified the operations of moving around the arm, releasing these burdens for the surgeons. Our preliminary experience proved that the use of a 3D exoscope is feasible and safe for the surgical management of a type II diastematomyelia with tethered cord.

Correction of a congenital kyphoscoliosis associated with diastematomyelia.

Congenital scoliosis is one of the most common deformities of the spine in children. Intraspinal anomalies are always accompanied with congenital scoliosis. Diastematomyelia is one of the most common intraspinal pathologies in congenital scoliosis. To date, there is no standard method for correcting the congenital spinal deformity associated with diastematomyelia. We present a clinical case of simultaneous correction of congenital scoliosis by an internal corrector with excision of diastematomyelia. The patient tolerated the surgery well without any complications. She was discharged home with improved symptoms without need for additional therapy. The patient's guardians consented to the procedure and to the publication of her image.

A Rare Case of Lumbar Region Diastematomyelia in a 25-year-old Woman With Lower Back Pain.

Diastematomyelia is an infrequent congenital anomaly that anatomically presents with a longitudinal division of the spinal cord at the level of one or several sections. It is generally diagnosed and treated in children. We present a 25-year-old female patient who has entered the Neurosurgery clinic after a traumatic experience with severe low back pain evaluated with 7 points on the visual analog scale (VAS). Magnetic resonance imaging (MRI) of the lumbar area discovered evidence for diastematomyelia type 1 at levels L3-L5 with deformations in L4 and L5 vertebrae and mild scoliosis. Because of the lack of neurological deficiency, the patient's treatment was conservative and included a 10-day intake of nonsteroid anti-inflammatory drugs (NSAIDs) in combination with myorelaxant and physiotherapy. On the 15th day, the patient was evaluated with 2 points on VAS. Neurological follow-up examinations were conducted on the third and the sixth month and the patient was evaluated with VAS 1, which proves that conservative treatment is successful for diastematomyelia in adults without neurological deficiency.

Cervical split cord malformation (diastematomyelia) with associated Klippel-Feil deformity presenting in adulthood with bimanual synkinesis.

BACKGROUND: Split cord malformation (SCM) is a rare congenital malformation of the spinal cord in which the cord is split longitudinally. Identification and diagnosis in adulthood is rare, with the majority of cases diagnosed in the paediatric population. Isolated segmental cervical SCM is rarer still. CASE PRESENTATION: Here, the authors present the case of a 26-year-old female who presented with neck pain and longstanding bimanual synkinesis secondary to an isolated type II SCM in the C4-C7 region. The authors present this novel presenting symptom in adulthood and finding of isolated cervical SCM with associated blocked cervical vertebrae, in an otherwise normal neuroaxis and spinal column. CONCLUSIONS: The case serves to highlight the importance of knowledge of this rare congenital condition to surgeons, physicians and radiologists involved in the care of both adult and paediatric patients presenting with spinal pathology.

Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus.

Jarcho-Levin syndrome (JLS) is a congenital dysostosis characterized by multiple vertebral and intrinsic rib abnormalities. JLS and neural tube abnormalities rarely occur together. There have been few cases of JLS associated with a split spinal cord malformation (diastematomyelia). A dorsal dermal sinus is a tract from the skin that may end in soft tissue, epidural space, or most commonly intradural. We report the case of a 5-day-old male neonate with JLS who presented with respiratory distress immediately after birth. A chest radiograph revealed multiple bilateral asymmetric rib deformities and irregular rib fusions, multi-level segmentation defects of the thoracic vertebrae, and associated dextroconvex scoliosis of the thoracic spine. He was subsequently diagnosed with diastematomyelia, a dorsal dermal sinus, and tethered cord on ultrasound. The infant succumbed to respiratory distress from superimposed pneumonia. JLS is rarely associated with distematomyelia, and there are only ten reports worldwide. We presented the eleventh case of JLS with type 2 diastematomyelia. In addition, this is the first reported case of co-occurrence with a dorsal dermal sinus.

Headache as the presenting manifestation of Gorlin-Goltz syndrome with diastematomyelia: A case report.

Gorlin-Goltz syndrome (GGS) is an autosomal dominant multisystemic disease with high penetrance. Headache heralding GGS has been previously reported but without discussing potential sources. We report a patient with headache and a novel association (diastematomyelia), which helped with the diagnosis. A 46-year-old woman presented with persistent holocranial headache. On examination, countless hyperpigmented basal cell nevi over the face, pits over the palmar/plantar surface, and palmar and plantar keratosis were observed. A magnetic resonance imaging (MRI) of the spinal cord revealed diastematomyelia. Diagnosis of GGS was finally made. Headache and diastematomyelia should be included in the clinical picture of GGS.

Complex Closed Spinal Dysraphism Presenting As Cauda Equina Syndrome With Faun Tail Nevus.

A posterior midline cutaneous lesion known as a faun tail nevus or aberrant lumbar hypertrichosis is significant to doctors because it may serve as a cutaneous signal for an underlying spinal cord and spine abnormalities. We describe a 17-year-old child who, since infancy, has had excessive hair development over his lumbosacral area. The lower spinal cord was affected by a related spinal abnormality. Clinical evidence was used to make the diagnosis. The patient presented with complaints of asymmetric monoparesis which on clinical examination and radiological investigations was found to be cauda equina syndrome secondary to spina bifida occulta. This case is reported for its clinical importance as patients with spina bifida occulta may show late deterioration.

Cervicomedullary junction mature teratoma with pulmonary differentiation and diastematomyelia in an adult - A rare case.

Background: Intradural extramedullary teratomas in the cervical or cervicomedullary region are rare in adults. Case Description: We report a symptomatic, mature teratoma at the cervicomedullary junction in a 52-year-old Hispanic female who also has a type I diastematomyelia in the thoracolumbar spine. The patient underwent surgical resection of the lesion with the resolution of presenting symptoms. Histopathology of the lesion revealed a mature cystic teratoma with pulmonary differentiation. Conclusion: We discuss the case along with a review of pertinent literature and considerations with regard to the diagnosis, etiology, prognosis, and management of this unusual pathology.

Prenatal Diagnosis of Diastematomyelia: a Case Report and Literature Review.

Diastematomyelia is a type of closed spinal dysraphism in which there is splitting of the spinal cord. It is a rare entity that accounts for less than 3% of closed spinal dysraphisms and affects females 1.3 to 6 times more frequently than males. Lesions are usually found in the lower thoracic and upper lumbar regions. It is characterised by two hemicords separated by a bony or cartilaginous spur. In most cases, it is an isolated malformation with a favourable prognosis. However, it may be associated with other abnormalities and sonography is the imaging test par excellence for early prenatal diagnosis. We report a case of diastematomyelia diagnosed by prenatal sonography at 24 weeks' gestation. Amniotic fluid alpha-fetoprotein (AF-AFP) was normal, while amniotic fluid acetylcholinesterase (AF-AChE) was positive. After birth, the diagnosis was confirmed with magnetic resonance imaging (MRI). The anomaly was associated with a spinal lipoma, tethered cord and dermal sinus. A review of all the cases described in the literature to date is carried out.

Split Spinal Cord Malformation Fed by Bilateral, Enlarged Radiculopial Arteries.

Anatomical variations of the spinal cord are seen in many manifestations; one rare variant that does not stem from a neural tube defect is known as a split cord malformation (SCM). In this variation, a deviation from normal development causes the spinal cord to divide into two hemicords, typically in the lumbar region. In the case described here, a SCM was observed with large, bilateral, radiculopial arteries. To our knowledge, such large vessels in conjunction with a SCM has not previously been documented in the literature. Such variants could be problematic during surgical approaches to the lumbar spine. Herein, we report the case and discuss the development of the findings with relevant clinical applications.

An Unusual Case of Neurenteric Cyst in a Patient with Split Cord Malformation.

Neurenteric cyst in a split cord malformation is a rare finding. We report an adult female becoming acutely symptomatic secondary to an expanding neurenteric cyst, though previous imaging had demonstrated stability. We discuss our workup and management with surgical resection and possible etiologies of her acute decline.

Complex spinal dysraphism: myelomenigocele associated with dorsal bony spur, split cord malformation type I, syringomyelia, lipoma and tethered cord.

Variations in split cord malformation (SCM) are known. However, association of SCM type I with myelomeningocele along with same level dorsal bony spur has not been described previously. We report a 1-year old male child who presented with these findings with associated syringomyelia, lipoma and tethered cord.

Spinal intradural arachnoid cyst associated with diastematomyelia in an adult: a case report and review of literature.

We report a case of a spinal intradural arachnoid cyst in a thirty year old female with a previously undiagnosed and untreated diastematomyelia. The cyst was located exactly between the two hemi-cords of the split cord malformation. The patient was treated successfully by laminoplasty and total removal of the cyst. Additionally, sectioning of the filium terminale was done in the same sitting by a separate incision. This case posed a diagnostic dilemma. Though the clinical findings favoured an extramedullary lesion, the possibility of cystic degeneration in the spinal cord due to the tethered cord syndrome could not be completely negated. Spinal intradural arachnoid cysts have been reported in association with various neural tube defects, mainly in the paediatric age group. However, such a lesion associated with diastematomyelia in an adult, to the best of our knowledge, has not been reported previously.