The fetal falx cerebelli.

BACKGROUND: The falx cerebelli is a retrocerebellar dural reflection. The MR spectrum of the fetal falx cerebelli has not been described. OBJECTIVE: To determine the prevalence of falx cerebelli abnormalities in the context of posterior fossa malformations and compare them to age-matched normal fetal MRI exams. MATERIALS AND METHODS: We reviewed all consecutive fetal MRIs performed over 1 year at a children's hospital. We assessed the falx cerebelli in each examination for location, morphology, size and number. Exams were grouped into (1) normal or non-brain/head abnormalities or (2) abnormal brain or craniofacial structures. We used chi square, linear regression and logistic regression analyses; P<0.05 was considered significant. RESULTS: We included 424 examinations (223 controls, 201 malformations) from 378 patients (mean gestational age 27±6 weeks). In the control group, the mean falx size was 2.6±1.2 mm (anteroposterior) × 11.0±3.2 mm (craniocaudal), with 80% retrovermian centered; the falx was linear (23%), Y-shape (15%), V-shape (22%) or U-shape (21%); it was unusually multiplicated (17%) or absent (<2%). Falx cerebellar abnormalities were more common in abnormal exams (59%; 119/201) than in normal exams (19%; 43/223) (P<0.001). The falx was abnormal with Blake pouch cysts (9/9, 100%) and rhombencephalosynapsis (3/4, 75%), absent in all Chiari II (n=9) and most Dandy-Walker malformations (5/6, 83%), commonly multiplicated in mega cisterna magna (14/22, 64%), and deviated or absent in cases with arachnoid cysts (3/3, 100%) and adhesions (4/5, 80%). CONCLUSION: Structural alterations of the falx cerebelli are more prevalent in fetuses with brain and craniofacial abnormalities. Specific changes offer clues to posterior fossa diagnoses.

Spinal bone defects in neurofibromatosis type I with dural ectasia: stress fractures or dysplastic? A case series.

OBJECTIVES: Neurofibromatosis type I (NF1) is a multisystem neurocutaneous disorder with varied musculoskeletal manifestations. Dural ectasia is a known association, whilst pedicular anomalies have been described, although not as frequently as other skeletal manifestations. However, reports of pedicular and other spinal clefts or fractures in combination with dural ectasia in NF1 are scarce. We aimed to identify osseous defects in the posterior elements of NF1 patients with dural ectasia. METHODS: Images of patients with NF1 and back pain were reviewed for osseous defects in the posterior elements. RESULTS: Four patients were identified with NF1, back pain, dural ectasia and bone defects. The imaging appearances of the defects are illustrated. CONCLUSIONS: Defects in the spinal posterior elements of patients with NF1, back pain and dural ectasia may be dysplastic, stress fractures or, most probably, multifactorial in origin. Computed tomography demonstrates these defects most clearly.

Cerebellar haemorrhage in a 12-year-old girl with giant dural sinus malformation.

Dural sinus malformation (DSM), a form of dural arteriovenous shunt (DAVS), is an extremely rare vascular anomaly seen less frequently than vein of Galen malformation. We report a case of DSM, detailing initial presentation and delayed complication of cerebellar haemorrhage due to venous stasis within the DSM leading to progressive thrombosis and venous outflow obstruction.

Hypoplasia of the Tentorium Cerebelli: Case Report and Review of the Literature.

The second largest intracranial specialization of the dura mater, the tentorium cerebelli, is a transverse fold that partially separates the cerebellum and cerebral hemispheres. During routine dissection of the posterior cranial fossa, a left-sided hypoplastic region of the tentorium cerebelli was observed. This fenestration was seen at the posterior portion of the tentorium as a posteromedial strip of tissue rising vertically to interface with the falx cerebri. Although isolated cases of tentorial hypoplasia have been reported in, for example, cases of Chiari II malformation, we believe isolated fenestration of this membrane is very rare, especially in the absence of the Chiari II malformation. The current case adds to the sparse literature on isolated tentorial defects and might be of interest to neurosurgeons or clinicians who review intracranial imaging.

Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.

Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that are unrelated to mutations in the FBN1, TGFBR1 or TGFBR2 genes. Here, we assessed dural ectasia in 33 individuals both with typical manifestations of heritable connective tissue disease and in whom mutations in all three genes had been excluded. We identified 19 individuals with dural ectasia (58%), who exhibited major skeletal manifestations of the Marfan syndrome more frequently than the remaining 14 persons without dural ectasia (p = 0.06). Moreover, only persons with dural ectasia fulfilled clinical criteria of the Marfan syndrome (p = 0.01). Conversely, aortic aneurysm (12 patients; p = 0.8), aortic dissection (five patients; p = 0.1), spontaneous dissection of the carotid arteries (five patients; p = 1), and mitral valve prolapse (13 patients; p = 0.4) were similarly frequent irrespective of dural ectasia. We conclude that dural ectasia is a marker for connective tissue disease which coincides with skeletal rather than with cardiovascular manifestations, and which may involve currently uncharacterized pathogenetic mechanisms and syndromes.

Long-segment type 1 split cord malformation with two-level split cord malformation and a single dural sac at the lower split.

OBJECTIVE AND IMPORTANCE: Two-level bony spurs are rare and also a very long segment of bony spur is very rare. Bony spur with a single dural covering is not reported in the literature. Here, we report a case of prophylactic surgery performed on a patient with a bony spur with a single dural covering who showed a good postoperative outcome. This case highlights the importance of prophylactic surgery in such patients to avoid cord injuries. CLINICAL PRESENTATION: Since birth a 1-year-old child had had a tuft of hair at the dorsal (D6 and D7) region. The patient was examined and found to have scoliosis with convexity towards the right. There was no neurological deficit. MRI and CT spine scans showed 2-level type 1 split cord malformation (SCM) and there was a low-lying conus at the L(3-4) level. INTERVENTION: The patient was operated on at the age of 1 year and 2 separate bony septae were observed. The upper one extended from D5 to D9 and the lower one was at the D11 level. The bony spurs were excised. The filum was sectioned at the L(4-5) level by a separate incision. The patient had a good postoperative recovery. CONCLUSION: With meticulous planning and careful surgery, prophylactic surgery can have a very good outcome in long-segment and two-level type 1 SCM.

Two cases of persistent falcine and occipital sinuses.

BACKGROUND: The coexistence of falcine and occipital sinuses is rare and its natural course has not been reported. CASE REPORTS: Two patients with persistent falcine and occipital sinuses are described. Both patients had straight sinuses. In one, both the transverse and sigmoid sinuses were hypoplastic and the patient had an acquired Chiari I malformation. The other patient had no other venous anomalies and had a normal posterior cranial fossa. CONCLUSION: The coexistence of falcine and occipital sinuses can lead to an acquired Chiari I malformation. These cases suggest the importance of checking other venous and brain anomalies in this situation.

[Definitions and MR imaging of duropathies].

Kumar defined duropathies as disorders with dural defects-related cerebrospinal fluid leaks, particularly of spinal anterior dura mater, Superficial (hemo) siderosis (SS) and multisegemental amyotrophy (MSAM) were included in duropathies. Dural defects of SS had two types; one was incomplete closure of the dura in the spinal and cranial operations, the other was a spontaneous defect in the spinal anterior dura mater. In a majority of SS patients, spontaneous dural defects were detected at the levels of C7/Th1 to Th2/Th3 on axial FIESTA (fast imaging employing steady state acquisition) images. Similarly, dural defects in our 6 cases with MSAM were showed at C7/Th1 to Th2/Th3. Axial FIESTA images were crucial on MR imaging. T2 weighted images demonstrated abnormal hyperintense lesions in both anterior horns at the level of C3 spinal cord in all of 7 patients with MSAM. A dural defect in one case was not found.

Improving long-term outcomes in pediatric torcular dural sinus malformations with embolization and anticoagulation: a retrospective review of The Hospital for Sick Children experience.

OBJECTIVE: Torcular dural sinus malformations (tDSMs) are rare pediatric cerebrovascular malformations characterized by giant venous lakes localized to the midline confluence of sinuses. Historical clinical outcomes of patients with these lesions were poor, though better prognoses have been reported in the more recent literature. Long-term outcomes in children with tDSMs are uncertain and require further characterization. The goal of this study was to review a cohort of tDSM patients with an emphasis on long-term outcomes and to describe the treatment strategy. METHODS: This study is a single-center retrospective review of a prospectively maintained data bank including patients referred to and cared for at The Hospital for Sick Children for tDSM from January 1996 to March 2019. Each patient's clinical, radiological, and demographic information, as well as their mother's demographic information, was collected for review. RESULTS: Ten patients with tDSM, with a mean follow-up of 58 months, were included in the study. Diagnoses were made antenatally in 8 patients, and among those cases, 4 families opted for either elective termination (n = 1) or no further care following delivery (n = 3). Of the 6 patients treated, 5 had a favorable long-term neurological outcome, and follow-up imaging demonstrated a decrease or stability in the size of the tDSM over time. Staged embolization was performed in 3 patients, and anticoagulation was utilized in 5 treated patients. CONCLUSIONS: The authors add to a growing body of literature indicating that clinical outcomes in tDSM may not be as poor as initially perceived. Greater awareness of the lesion's natural history and pathophysiology, advancing endovascular techniques, and individualized anticoagulation regimens may lead to continued improvement in outcomes.

The prevalence of anatomical variations that can cause inadvertent dural puncture when performing caudal block in Koreans: a study using magnetic resonance imaging.

The purpose of this study was to investigate the prevalence of the anatomical abnormalities that can induce inadvertent dural puncture when performing caudal block. The anatomy of the lumbo-sacral area was evaluated using magnetic resonance imaging. In 2462 of the 2669 patients imaged, the dural sac terminal was located between the upper half of the 1st sacral vertebra and the lower half of the 2nd sacral vertebra. In 22 cases (0.8%), the dural sac terminal and the spinal canal were located at or below the 3rd sacral vertebra, and these were cases of simple anatomical variations. As regards pathologic conditions, there was one case of sacral meningocoele and 46 cases of sacral perineural cyst. In 21 cases (0.8%) out of the 46 perineural cyst cases, the cyst could be found at or below the 3rd sacral vertebra level. Inadvertent dural puncture may happen when performing caudal block in patients with such abnormal anatomy.

Congenital duplication of the superior sagittal sinus and parietal encephalocele after vacuum extraction delivery.

A newly-born infant with a congenital dural and bony defect and an associated short-segmented duplication of the superior sagittal sinus suffered from herniation and infarction of parietal brain tissue secondary to vacuum extraction. This ultimately led to the formation of a subgaleal cerebrospinal fluid (CSF) collection. Initial operative closure of the encephalocele was performed by attaching a galeal flap to the periostium surrounding the congenital defect. As the bony defect developed characteristics of a growing fracture later on, dural repair, transplantation of a split-bone flap and, finally, the insertion of a ventriculoperitoneal shunt became necessary. This case affirms that stringent indication and cautious usage of vacuum-assisted delivery is strongly recommended, especially in view of the possibility that undetected congenital cranial, vascular and/or cerebral alterations may be present.

Natural Dural Defect of the Posterior Fossa Dura as a Risk Factor for Postoperative Cerebrospinal Fluid Leakage.

BACKGROUND: During microvascular decompression surgery (MVD), small (2-3 mm diameter) natural dural defects have been noticed occasionally but never reported. These tiny dural defects cannot be detected by preoperative imaging studies or even in anatomical cadaver dissection, but may lead to complications including cerebrospinal fluid (CSF) leakage. Our objective was to analyze the features of these natural defects in the posterior fossa dura. METHODS: Surgical reports and videos of 593 consecutive patients who underwent MVD surgery for trigeminal neuralgia (TN) or hemifacial spasm (HFS) were analyzed retrospectively. Video recording confirmed that these small holes were not related to the craniotomy procedure itself and were natural defects. RESULTS: Such natural defects of the posterior fossa dura were found in 6 of the 593 patients. All of the defects were about 2 mm in diameter and occurred on the left side in female patients with HFS. All were managed by patching with a fascial or muscle graft. Multivariate analysis showed that the defect was significantly associated with the left side and had a female predilection. Neither disease (HFS or TN) nor age was correlated with the presence of dural defects. CONCLUSIONS: After posterior fossa craniotomies, CSF leakage or pseudomeningocele may occur at the dural suture site because of the hydrostatic pressure. Because such natural dural defects may be a cause of CSF complications after posterior fossa surgery, their possible occurrence should be considered. This is the first report to document the occurrence of such natural defects of the posterior fossa dura.

Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.

Marfan syndrome is an autosomal dominant disorder involving different organ systems. Marfan syndrome type 1 (MFS1) is caused by mutations in the FBN1 gene. Heterozygosity for mutations in the TGFBR1 or TGFBR2 genes cause Loeys-Dietz syndrome (LDS) types 2A and 2B that overlap with MFS1 in their clinical features. The phenotype of MFS1 is defined by the Ghent nosology, which classifies the clinical manifestations in major and minor criteria. Dural ectasia is one of the major criteria for Marfan syndrome but it is rarely tested for. We here report 22 novel and 9 recurrent mutations in the FBN1 gene in 36 patients with clinical features of Marfan syndrome. Sixty patients with identified mutations in the FBN1 gene and three patients with mutations in the TGFBR1 or TGFBR2 genes were examined for dural ectasia. Forty-seven of the 60 patients (78%) with MFS1 showed the dural ectasia criterion and 13 (22%) did not. Thirty-three (55%) patients were suspected of having Marfan syndrome and 24 (73%) of them had dural ectasia. Two of the three patients with LDS had dural ectasia.

Endovascular management of spinal dural arteriovenous fistulas. A review.

OBJECT: Spinal dural arteriovenous fistulas (DAVFs) are the most common spinal vascular malformations and can be a significant cause of myelopathy, yet remain inefficiently diagnosed lesions. Over the last several decades, the treatment of spinal DAVFs has improved tremendously due to improvements in neuroimaging, microsurgical, and endovascular techniques. The aim of this paper was to review the existing literature regarding the clinical characteristics, classification, and endovascular management of spinal DAVFs. METHODS: A search of the PubMed database from the National Library of Medicine and reference lists of all relevant articles was conducted to identify all studies pertaining to spinal DAVFs, spinal dural fistulas, and spinal vascular malformations, with particular attention to endovascular management and outcomes. RESULTS: The ability to definitively treat spinal DAVFs using endovascular embolization has significantly improved over the last several decades. Overall rates of definitive embolization of spinal DAVFs have ranged between 25 and 100%, depending in part on the embolic agent used and the use of variable stiffness microcatheters. The majority of recent studies in which N-butyl cyanoacrylate or other liquid embolic agents were used have reported success rates of 70-90%. Surgical treatment remains the definitive option in cases of failed embolization, repeated recanalization, or lesions not amenable to embolization. Clinical outcomes have been comparable to surgical treatment when the fistula and draining vein remain persistently occluded. Improvements in gait and motor function are more likely following successful treatment, whereas micturition symptoms are less likely to improve. CONCLUSIONS: Endovascular embolization is an increasingly effective therapy in the treatment of spinal DAVFs, and can be used as a definitive intervention in the majority of patients that undergo modern endovascular intervention. A multidisciplinary approach to the treatment of these lesions is required, as surgery is required for refractory cases or those not amenable to embolization. Newer embolic agents, such as Onyx, hold significant promise for future therapy, yet long-term follow-up studies are required.

Cranial dural arteriovenous fistulas: modification of angiographic classification scales based on new natural history data.

This article presents a modification to the existing classification scales of intracranial dural arteriovenous fistulas based on newly published research regarding the relationship of clinical symptoms and outcome. The 2 commonly used scales, the Borden-Shucart and Cognard scales, rely entirely on angiographic features for categorization. The most critical anatomical feature is the identification of cortical venous drainage (CVD; Borden-Shucart Types II and III and Cognard Types IIb, IIa + b, III, IV, and V), as this feature identifies lesions at high risk for future hemorrhage or ischemic neurological injury. Yet recent data has emerged indicating that within these high-risk groups, most of the risk for future injury is in the subgroup presenting with intracerebral hemorrhage or nonhemorrhagic neurological deficits. The authors have defined this subgroup as symptomatic CVD. Patients who present incidentally or with symptoms of pulsatile tinnitus or ophthalmological phenomena have a less aggressive clinical course. The authors have defined this subgroup as asymptomatic CVD. Based on recent data the annual rate of intracerebral hemorrhage is 7.4-7.6% for patients with symptomatic CVD compared with 1.4-1.5% for those with asymptomatic CVD. The addition of asymptomatic CVD or symptomatic CVD as modifiers to the Borden-Shucart and Cognard systems improves their accuracy for risk stratification of patients with high-grade dural arteriovenous fistulas.

Congenital spinal lipomatous malformations: part I--Classification.

BACKGROUND: Congenital spinal lipomatous malformations constitute a diverse group of lesions. There is considerable confusion in the literature regarding their terminology and a proper classification is long overdue. The first part of this two part report sets out a proposed classification scheme. METHODS: On the basis of this author's experience with 80 patients with a congenital spinal lipomatous malformation treated over a 10 year period, a new classification is proposed. The proposed classification divides congenital spinal lipomatous malformations into two broad groups: 1. Lipomas without dural defect and, 2. Lipomas with dural defect. Within each group, there are several subtypes. These two broad groups differ from one another in their embryology, clinical presentation, operative findings, complications and prognosis FINDINGS: Group I consists of Lipomas without dural defect. Included in this group are: Filum lipoma, caudal lipoma without dural defect, and intramedullary lipoma. Group II consists of lipomas with dural defect. Included in this group are: dorsal lipoma, caudal lipoma with dural defect, transitional lipoma, lipomyelocele, and lipomyelomeningocele. The definitions of the various subtypes and radiological and operative findings of all these lesions are described. CONCLUSIONS: Congenital spinal lipomatous malformations constitute a wide spectrum of lesions ranging from relatively simple lipomas of the filum terminale to complex malformations. These lesions differ from one another in their embryology, clinical presentation, operative strategies, complications and prognosis. Failure to differentiate between the different forms of congenital spinal lipomatous malformations may lead to inaccurate assumptions regarding prognosis and inappropriate management. The proposed classification seeks to address these issues.

Congenital spinal lipomatous malformations: part II--Clinical presentation, operative findings, and outcome.

BACKGROUND: To report this author's experience with patients with a congenital spinal lipomatous malformation with special emphasis on variations in clinical presentation, operative findings, and outcome based on the classification scheme proposed in the first part of this two part article. METHODS: From January 1995 to July 2005, 80 patients with a congenital spinal lipomatous malformation were treated. All patients underwent routine neurological examination, plain radiographs of the spine and all but 10 patients underwent MRI. Ten patients underwent CT-myelography. Hoffman's functional grading scale was used for preoperative and postoperative clinical assessment. The operative findings, complications and outcome were assessed. FINDINGS: Age ranged from 18 days to 19 years. The female: male ratio was 3:2. The malformations were divided into two groups: Group I: Lipomas without a dural defect and, Group II: Lipomas with a dural defect. Included in Group I were: 22 patients out of which there were Caudal lipomas: 10, Filum lipomas:11 and intramedullary lipoma: 1. In Group II there were 58 patients out of which there were Dorsal lipomas: 8, Caudal lipomas with dural defect: 8, Transitional lipomas: 10, lipomyelomeningoceles:28, lipomyeloceles: 4. Most of the group I patients were >5 years of age; cutaneous markers were absent in 60%, older children more often presented with sphincter disturbances. Surgery in group I was straight forward and consisted of sectioning of the filum in filum lipomas, debulking and untethering in caudal lipomas. Duroplasty was seldom required. CSF leak was rare. No patient deteriorated following surgery and no retethering was noted during follow-up. In Group II, all patients had cutaneous markers, most were <2 years of age, 19 were asymptomatic, older children had more severe neurological deficits. Duroplasty was required in most cases. A CSF leak occurred in 12%. Two patients deteriorated temporarily following surgery. Two patients presented with retethering 4 and 8 years after initial surgery. Improvement of more than one Hoffman's functional grade occurred when surgery was done <2 years of age. CONCLUSIONS: Congenital spinal lipomatous malformations do not constitute a single homogenous entity. They can be broadly classified into two groups depending on the presence or absence of a dural defect. These two groups are different from one another embryologically, clinically, surgically and prognostically.

Aplasia cutis congenita: management of a large skull defect with acrania.

Aplasia cutis congenita is a rare disorder characterized by absence of skin. Lesions typically occur on the vertex and are sometimes small, but they can affect deep tissues such as the skull bone and dura. Mortality is related to the depth and size of the lesion and can amount to a rate of more than 50% when full thickness is involved. The treatment remains controversial -- both surgical and conservative managements are described. Minor lesions can be controlled with nonsurgical treatment, but large defects require early surgery. We report the case of a female newborn with acrania and scalp aplasia cutis congenita, which was treated with a bipedicle scalp flap based on the temporal vessels. Full- and partial-thickness skin grafts were used to cover the donor site on the temporo-occipital region. Postoperatively, the patient developed a liquorice cyst, which was treated with a shunt, and she has been followed up for evaluation of the bony defect closure and skull morphology. Her neuropsychomotor development is normal.