Osseous bridging of the condylar fossa: report of a rare anatomical variation at the outer skull base.

PURPOSE: The topic of osseous variations of the craniocervical junction is a complex morphological and embryological chapter of human anatomy, with a possible impact on neurogical and vascular functionality in this morphological variable region. MATERIAL & METHODS: An until now undescribed anatomical variation of the exoccipital part of the occipital bone has been observed after maceration at the outer skull base of a West-European 68-year-old male body donor. RESULTS: On both sites of the foramen magnum accessory osseous processes were observed that arise from the jugular process and point towards the lateral margin of the foramen magnum. On the left site this process forms a full arc that bridges the condylar fossa completely. CONCLUSION: The observed osseous bridge over the condylar fossa has not been reported on before and can be explained by the partial persistence of a primordial vertebra between atlas and occipital bone: the Proatlas. The resulting accessory structure may affect due to its topographic conditions the V3-Segment of the vertebral artery and its accompanying nerves, and thus, play a role in diagnosis and therapy of vascular and/or neurological symptoms of head and neck.

Arterial Vascular Structures Running Through Retrotransverse Foramen and Retrotransverse Groove of the Atlas Vertebrae.

OBJECTIVE: Retrotransverse foramen (RTF) and retrotransverse groove (RTG) are anatomic variations of the atlas (C1) vertebrae. RTF contains an anastomotic vein connecting atlanto-occipital and atlanto-axodian venous sinuses. The purpose of this study was to analyze the arterial vascular structures running though the RTF and RTG. METHODS: Three-dimensional volume rendered computed tomography angiography (3D VR CTA) images of 427 patients (264 men, 163 women; age 17-87 years) were reviewed and evaluated using the RadiAnt DICOM Viewer (version 5.0.2; Medixant, Poznan, Poland). The incidence of RTF or RTG, the incidence of the V3 segment of vertebral artery variants, and the artery vascular structures inside the RTF and RTG anatomic variation of C1 were analyzed. RESULTS: Fifty (11.7%) atlases presented RTF anatomical variant; 113 (26.5%) atlases presented RTG anatomical variants. The incidence of the V3 segment of vertebral artery variants was 0.94% (4 of 427). Three (0.7%) were persistent first intersegmental artery and 1 (0.2%) was the fenestration of the vertebral artery on left side. In 4 cases of C1 vertebral artery V3 segmental variants, there were no RTF and RTG. No artery vascular structure was found in RTF or RTG. CONCLUSIONS: The RTF or RTG of C1 was a common anatomical variant. No arterial vascular structure runs though the RTF or RTG. The presence of C1 RTF and RTG variants had no effect on the V3 segmental course of the vertebral artery. Preoperative understanding of these variations using 3D CTA are helpful for the safe execution of the upper cervical posterior approach surgeries.

Tailored Surgical Approaches for Foramem Magnum Tumors

Objective To describe our surgical techniques, analyze their safety and their postoperative outcomes for foramen magnum tumors (FMTs). Methods From 1986 to 2014, 34 patients with FMTs underwent surgeries using either the lateral suboccipital approach, standard midline suboccipital craniotomy, or the far lateral approach, depending on the anatomic location of the lesions. Results In the present series, there were 22 (64.7%) female and 12 (35.2%)male patients. The age of the patients ranged from12 to 63 years old.We observed 1 operativemortality (2.9%). A total of 28 patients (82.3%) achieved a score of 4 or 5 in the Glasgow Outcome Scale (GOS). Gross total resection (GTR) was obtained in 22 (64.7%) patients. After the surgery, 9 (26%) patients developed lower cranial nerve dysfunction (LCNd) weakness. The follow-up varied from 1 to 24 years (mean: 13.2 years). Conclusion Themajority of tumors located in the FMcan be safely and efficiently removed usingeither thelateral suboccipital approach, standardmiddlelinesuboccipital craniotomy, or the far lateral approach, depending on the anatomic location of the lesions.

Is Basilar Invagination Related with Stenosis of the Hypoglossal Nerve Canal?

OBJECTIVE: To analyze the association between basilar invagination (BI) and stenosis in the hypoglossal canal (HC). METHODS: A case-control study with magnetic resonance images (MRIs) of the head from a local database was performed. The study used MRIs of 31 patients with BI (type B) and 36 controls, both groups over 18 years of age and without sex distinction. The internal (ID) and external (ED) diameters of the HC were measured on the coronal plane using the Osirix in its free version 3.9.2 (Mac-Apple platform). We used the Kolmogorov-Smirnov test (with Lilliefors adjustment) to evaluate the normality of the variables, the Levine test to verify the homogeneity of the variances, and Student's t test to verify differences between groups. All analyses were within the 95% confidence interval. RESULTS: Control group presented right and left ED values of 4.7 ± 0.8 mm and 4.6 ± 0.9 mm, respectively, while the right and left ID showed 4.4 ± 0.9 mm and 4.3 ± 0.8 mm, respectively. The group with BI showed right and left ED values of 3.3 ± 0.9 mm and 3.1 ± 0.9 mm, and the right and left ID had values of 2.8 ± 0.7 mm and 2.7 ± 0.7 mm, respectively. Both ED and ID were smaller in the group with BI (P < 0.001). CONCLUSIONS: Patients with BI of type B presented the narrowing of HC when compared with control participants.

Realignment of Basilar Invagination by C1-C2 Joint Distraction: A Modified Approach to a Paradigm Shift.

BACKGROUND: Distraction of the C1-C2 joint and maintenance thereof by introduction of spacers into the articular cavity can successfully and durably reduce basilar invagination (BI). Thus, with the adjunct of instrumented fusion and decompression, BI-induced myelopathy can be efficiently treated with a one-stage posterior approach. This intervention is technically challenging, and in this paper we describe a procedural variation to facilitate the approach. METHODS AND RESULTS: Through a description of a case of BI, the main anatomopathological alteration underlying and perpetrating the condition of BI is elucidated. A technique of realignment of BI is then described in which this alteration is specifically targeted and neutralized. The result is a single-stage posterior-only approach with decompression, C1-C2 distraction and introduction of poly(methyl methacrylate) (PMMA) into the joint cavity. Instrumented occipitocervical fusion completes the procedure. CONCLUSION: C1-C2 joint distraction is a technically demanding procedure. By providing a modification of the original technique and a detailed description of the crucial steps necessary to successfully and safely carry it out, we hope to make this excellent procedure more approachable.

Unusual osteological findings in sacred relics from the LESJE monastery in central Serbia.

An adult male skeleton was submitted to the Department of Anatomy at the University of Belgrade for evaluation. It was believed to represent the remains of a second to third century Christian saint from the Lesje Monastery in central Serbia. Examination of the remains revealed an old crush fracture of a thoracic vertebra and an unusual, probably congenital, malformation of the atlanto-occipital joint with deformation of the left occipital condyle and resultant narrowing of the foramen magnum. Although the occipital malformations were most likely congenital, they may still have caused, or contributed to, death by compression of the underlying upper cervical spinal cord.

Iniencephaly.

BACKGROUND: Iniencephaly is a severe developmental abnormality of the craniovertebral junction in which the head is retroflexed dramatically. Anatomic studies have identified striking changes in the vertebrae and skull: marked lordosis of the cervical vertebrae, duplicated cervical vertebrae, irregularly fused cervical vertebrae, a widened foramen magnum and a small posterior fossa. The affected infant appears to have no neck, as the skin of the face is continuous with the chest and the skin of the posterior scalp is continuous with the skin of the back. Iniencephaly is considered a rare neural tube defect. The frequency has been higher in geographic areas in which the rates of occurrence of anencephaly and myelomeningocele were high. Most affected fetuses are either stillborn or die soon after birth. However, one affected individual is an adult with normal intelligence. METHODS: A malformations surveillance program can identify an unselected group of infants with iniencephaly. This approach can determine the prevalence rate, the frequency of associated malformations, and the occurrence of close relatives with other neural tube defects. RESULTS: Over 41 years, the surveillance of 289,365 births identified eight fetuses and newborn infants with iniencephaly. Five of the eight had either an additional encephalocele or a thoracic myelomeningocele. Two of the eight affected infants had a sibling or a cousin with anencephaly. CONCLUSION: These findings suggest a relationship between the occurrence of iniencephaly and the most common neural tube defects, anencephaly and myelomeningocele. Recent experience confirms that this complex neural tube defect is not always lethal. Birth Defects Research 110:128-133, 2018. © 2018 Wiley Periodicals, Inc.

Foramen magnum compression in Coffin-Lowry syndrome: A case report.

Coffin-Lowry syndrome (CLS) is a rare genetic disorder inherited in an X-linked dominant pattern. Common manifestations include intellectual disability, growth retardation, dysmorphic facial features, and variable skeletal anomalies. Here we report a patient who first presented with episodes of apparent life-threatening events (ALTE) found to be caused by hydrocephalus and brainstem compression at the foramen magnum. Together with his small size, short limbs and fingers, and facial appearance, the narrowing of the foramen magnum lead to the initial clinical misdiagnosis of hypochondroplasia. Subsequent evaluation and testing lead to the correct diagnosis of CLS. This case demonstrates the variability in presentation of CLS, and that skeletal findings may be misleading in infancy. © 2017 Wiley Periodicals, Inc.

Current Care and Investigational Therapies in Achondroplasia.

PURPOSE OF REVIEW: The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe. RECENT FINDINGS: Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery. In this review, we identify the different options of care and management for the various orthopedic, neurologic, and respiratory complications. In parallel, several innovative or drug repositioning therapies are being investigated that would restore bone growth but may also prevent complications. Achondroplasia is the most common non-lethal skeletal dysplasia. It is characterized by short stature and a variety of complications, some of which can be quite severe. Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery. In this review, we identify the different options of care and management for the various orthopedic, neurologic, and respiratory complications. In parallel, several innovative or drug repositioning therapies are being investigated that would restore bone growth but may also prevent complications.

Report of a familial case of proatlas segmentation abnormality with late clinical onset.

Although proatlas segmentation abnormalities as developmental remnants around the foramen magnum have been reported in postmortem studies, they are rarely documented in a clinical setting. This report details the clinical and radiological characteristics of a rare case of proatlas segmentation abnormalities with clinical onset during the seventh decade of life. This case was suspected to have a familial factor. We also review the literature regarding this condition.

Surgical Outcome and Prognostic Analysis of Transoral Atlantoaxial Reduction Plate System for Basilar Invagination: A Voxel-Based Morphometry Study.

BACKGROUND: The use of a transoral atlantoaxial reduction plate (TARP) system is an effective surgical approach for the treatment of basilar invagination. With the aim of improving the therapeutic efficacy of the TARP operation, we conducted a voxel-based morphometric study to quantitatively investigate the descent of the odontoid process and craniocervical volume changes. METHODS: We enrolled 20 patients with basilar invagination who underwent a TARP procedure. Craniocervical computed tomography (CT) scanning and a 3-dimensional (3-D) reconstruction of the craniocervical junction were performed. Craniocervical volumes and odontoid process descent distances were measured preoperatively and postoperatively. Individual neurological function was evaluated according to the Japanese Orthopaedic Association (JOA) scoring system for cervical disorders. Pearson correlation analysis was applied for statistical testing. RESULTS: Surgical efficacy (the JOA-score improvement rate) was significantly associated with the craniocervical volume improvement rate, the odontoid descent distance, and the absolute craniocervical volume changes (p < 0.01 for all), with correlation coefficients (r) of 0.83, 0.80, and 0.61, respectively. No significant correlation was noted between surgical efficacy and age, symptom duration, preoperative neurological function, odontoid process displacement, or change in clivus-odontoid angle (p > 0.05). The craniocervical volume improvement rate was significantly associated with the odontoid descent distance (r = 0.8; p < 0.01), but it was not associated with the odontoid displacement or the change in the clivus-odontoid angle (p > 0.05). CONCLUSIONS: We found that the odontoid descent distance predicted the craniocervical volume improvement rate following TARP procedures in patients with basilar invagination, and we believe that both can serve as predictors of surgical efficacy. We believe that planning the odontoid descent distance preoperatively may help to improve the efficacy of TARP operations. LEVEL OF EVIDENCE: Prognostic Level III. See Instructions for Authors for a complete description of levels of evidence.

Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.

SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. The malformation was successfully treated by decompression of the foramen magnum and elevation of the cerebellum, with complete resolution of pain.We report a rare case of Arnold Chiari malformation in a patient presenting with clinical and radiographic features strongly suggestive of SD and be successfully treated.

Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive analysis.

BACKGROUND: Children with faciocraniosynostosis present skull base abnormalities and may develop hydrocephalus or cerebellar tonsils ectopia (CTE). Several pathophysiological hypotheses were formulated in the past decades to explain these associations. However, no study has described in a genetically homogeneous population with confirmed fibroblast growth factor receptor type 2 (FGFR2) mutation eventual correlations between skull base abnormalities and hydrocephalus or CTE. OBJECTIVE: To illustrate these features in children <2 years of age with a genetically confirmed FGFR2-related faciocraniosynostosis. METHODS: We measured the foramen magnum area (FMA) and its sagittal and transversal components: the right, left, and mean area of the jugular foramen; the posterior fossa volume; and the cerebellar volume on preoperative millimetric computed tomography scan slices in 31 children with an FGFR2 mutation (14 with Crouzon syndrome, 11 with Apert syndrome, and 6 with Pfeiffer syndrome). They were compared with 17 children without synostosis. All children were <24 months of age. We correlated all these measures with the presence of hydrocephalus or CTE. RESULTS: We observed a significantly small FMA in children with Crouzon (P = .03) and in children with Pfeiffer (P = .05) resulting from a reduced sagittal diameter (P = .02 for Crouzon and P = .002 for Pfeiffer). Hydrocephalus was associated with small FMA (P = .02). The jugular foramen area, posterior fossa volume, and cerebellar volume were not associated with hydrocephalus or CTE. Hydrocephalus and CTE were statistically associated (P = .002). CONCLUSION: Hydrocephalus in FGFR2-related Crouzon and Pfeiffer syndromes is statistically associated with a small FMA. Hydrocephalus is statistically associated with CTE.

Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?

Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation.

Comparative skull analysis suggests species-specific captivity-related malformation in lions (Panthera leo).

Lion (Panthera leo) populations have dramatically decreased worldwide with a surviving population estimated at 32,000 across the African savannah. Lions have been kept in captivity for centuries and, although they reproduce well, high rates of stillbirths as well as morbidity and mortality of neonate and young lions are reported. Many of these cases are associated with bone malformations, including foramen magnum (FM) stenosis and thickened tentorium cerebelli. The precise causes of these malformations and whether they are unique to captive lions remain unclear. To test whether captivity is associated with FM stenosis, we evaluated 575 lion skulls of wild (N = 512) and captive (N = 63) origin. Tiger skulls (N = 276; 56 captive, 220 wild) were measured for comparison. While no differences were found between males and females or between subadults and adults in FM height (FMH), FMH of captive lions (17.36±3.20 mm) was significantly smaller and with greater variability when compared to that in wild lions (19.77±2.11 mm). There was no difference between wild (18.47±1.26 mm) and captive (18.56±1.64 mm) tigers in FMH. Birth origin (wild vs. captive) as a factor for FMH remained significant in lions even after controlling for age and sex. Whereas only 20/473 wild lions (4.2%) had FMH equal to or smaller than the 5th percentile of the wild population (16.60 mm), this was evident in 40.4% (23/57) of captive lion skulls. Similar comparison for tigers found no differences between the captive and wild populations. Lions with FMH equal to or smaller than the 5th percentile had wider skulls with smaller cranial volume. Cranial volume remained smaller in both male and female captive lions when controlled for skull size. These findings suggest species- and captivity-related predisposition for the pathology in lions.

Basicranial venous anomalies associated with complex nonsyndromic craniosynostosis in a child.

We report the radiological findings of severe bilateral jugular foraminal stenosis along with anomalous basicranial venous drainage in a child with a history of complex nonsyndromic craniosynostosis. CT with 3D reconstructions and MR venography revealed that the lateral sinuses were draining transosseously through several markedly enlarged emissary veins. The main route of transverse and sigmoid sinus drainage was through large mastoid emissaries to the deep cervical veins. There was additional drainage of these mastoid emissaries into the vertebral and paravertebral plexuses as well as into venous collaterals which subsequently reconstituted the internal jugular veins. Basicranial venous anomalies are common among children with complex craniosynostosis, and although they may not resemble intracranial vascular outflow deficiencies, they can pose significant surgical risks. This case emphasizes the need for proper clinical assessment and documentation of anomalous basicranial venous anatomy to facilitate management of complex craniosynostosis patients.

Anatomical variations of the foramen magnum, occipital condyle and jugular tubercle.

AIM: The foramen magnum (FM) is a unique and complex anatomical region. The occipital condyle (OC) and jugular tubercle (JT) are the main bony structures which obscure the anterolaterally situated lesions of the FM.The aim of this study was to revisit the anatomy of the FM region and assess variations of the surrounding structures. MATERIAL AND METHODS: Observations, on thirty dry skulls (dried specimens, 60 sides) and ten formalin-fixed cadaveric heads with perfused vessels, were carried out to define the microsurgical anatomy of the FM region. Morphometric analysis and variations of the FM, OC, JT and hypoglossal canal (HC) were noted. Radiological assessment (3D-computed tomography) of the OC, JT, HC were also conducted on dry skulls. RESULTS: The short and long OC were demonstrated in 5% and 33% of the specimens, respectively. Flat formation of the JT was determined in 10% and tall JT was found in 23% of the specimens. The comparison of the anatomical measurements and the correspondent radiological mean values did not achieve statistical significance. CONCLUSION: The OC and JT are the main bony prominences obstructing the anterolateral surface of the brainstem. Neurosurgeons should be familiar with variations of the structures surrounding the FM in order to perform the safest and widest exposure possible.