Pathogenesis and treatment of a giant occipital bone defect with meningoencephalocele in an NF1 child: case report and review of the literature.

Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple café-au-lait spots, lentiginous macules, Lisch nodules of the iris, and tumors of the nervous system. Bony manifestations such as scoliosis, dysplasia of the greater sphenoidal wing, tibial pseudoarthrosis, short stature, and macrocephaly have been reported in approximately 50% of patients. However, calvarial bone defects are rare. After screening 324 articles, 23 cases (12 adult and 11 pediatric patients) of occipital bone defects in NF1 patients were selected. All patients had a single/multiple bone defect over the lambdoid suture. Adjacent benign plexiform neurofibromas were observed in 14 patients (60.8%, 7 adults and 7 children); one adult patient was diagnosed with neurofibrosarcoma. Meningoencephalocele over the occipital defect was noted in 8 cases (34.78%, all adults). Cranioplasty was performed in only 17.39% of patients. Histologic examination was performed in 7 of the 15 patients with associated neurofibromas/neurofibrosarcomas. Biopsy of the bone margins surrounding the defect was performed in only one case. Pathologic examination of the herniated parieto-occipital or cerebellar tissue was not performed in any of the patients studied. We report the case of a 9-year-old girl with NF1 and a significant occipital bone defect and performed a systematic review of the relevant literature to highlight the challenges in treating this condition and to investigate the underlying mechanisms contributing to bone defects or dysplasia in NF1.

Meningoencephalocele and supernumerary ectopic limb arising from the occipital bone in a Jacob sheep lamb.

This report describes the clinical, computed tomography, and magnetic resonance imaging findings for a Jacob sheep lamb diagnosed with meningoencephalocele and supernumerary ectopic limb. Key clinical message: This case demonstrates the utility of tomographic imaging in diagnosing congenital malformations in sheep and can be used to assess the extent of the lesion. This may help to determine any viable treatment, or, as in the case presented here, determine that the extent of the lesion precludes surgical intervention.

Méningoencéphalocèle et membre ectopique surnuméraire provenant de l'os occipital chez un agneau Jacob. Ce rapport décrit les résultats cliniques, de tomodensitométrie et d'imagerie par résonance magnétique d'un agneau de Jacob chez qui on a diagnostiqué une méningoencéphalocèle et un membre ectopique surnuméraire.Message clinique clé :Ce cas démontre l'utilité de l'imagerie tomographique dans le diagnostic des malformations congénitales chez le mouton et peut être utilisée pour évaluer l'étendue de la lésion. Cela peut aider à déterminer tout traitement viable ou, comme dans le cas présenté ici, à déterminer que l'étendue de la lésion exclut une intervention chirurgicale.(Traduit par Dr Serge Messier).

Occipital bone defect caused by neurofibromatosis type I: A case report.

RATIONALE: The synergistic effect between nonmalignant lesions can also cause a serious impact on patient survival. This disease involves different organ systems and presents with a variety of clinical manifestations, such as schwannoma, depigmentation, low-grade glioma, and skeletal abnormalities. We report a case of type I neurofibromatosis with an occipital bone defect. PATIENT CONCERNS: We report a case of a 50-year-old man with type I neurofibromatosis with occipital bone defect. DIAGNOSIS: The patient was accepted by the local hospital due to sudden right upper limb weakness accompanied by jitter without recognizable cause or inducement. A computerized tomography scan at a local hospital suggested subcutaneous neurofibromatosis with a left occipital cranial defect with thinning bone. On admission physical examination, diffuse multiple masses could be seen throughout the body and head of different sizes and composed of soft and tough textures. The largest one was located in the posterior occipital bone, approximately 8*8 cm in size, with a child tumor and tough texture. Multiple café-au-lait spots could be found on the chest and back, and multiple freckles can be seen in the armpit. The patient underwent surgery. Postoperative pathology showed a spindle cell tumor, which was determined to be neurofibromatosis type I according to immunopathology and clinical data. INTERVENTIONS: The patient was admitted for surgical treatment. During the operation, the scalp mass was completely abducted and the tumor tissue at the skull defect was sharply separated. Postoperative pathology showed that the peripheral margin and the bottom margin were cleaned. OUTCOMES: Computerized tomography and magnetic resonance imaging showed that the tumor was completely. There were not any surgical complications. The patient recovered well, was cured and was dismissed from the hospital. LESSONS: The synergistic effect between nonmalignant lesions can also cause a serious impact on patient survival to encourage early medical intervention. The clinical presentation of neurofibromatosis type I am usually nonmalignant, and in this case, involvement of the skull with bone defect is very rare. Therefore, it is necessary to accumulate relevant cases, reveal the pathogenesis of the disease, predict the development and outcome, and provide more evidence for early therapeutic intervention of similar patients in the future.

Differential diagnosis of an osseous cranial tumor from Hellenistic Mugla, Turkey.

OBJECTIVE: This project evaluates a cranial lesion from a Hellenistic-era individual excavated by the Mugla Archaeological Museum in Gülagzi, Turkey. MATERIALS: An osseous tumor measuring 3.02 × 3.54 × 2.98 cm originating from the occipital bone of a probable young adult male. METHODS: The tumor was examined using gross morphological inspection, plain radiography (x-ray), and computed tomography (CT) imaging to identify potential differential diagnoses for the osseous cranial tumor. RESULTS: The lesion in question displays features highly consistent with both osteoid osteoma and osteoblastoma. The tumor had a non-sclerotic, sharply demarcated border, a radiolucent nidus measuring less than 2 centimeters in diameter, and homogeneous sclerotic bone surrounding the nidus. CONCLUSIONS: Differential diagnosis determined the osseous tumor to be a benign neoplasm, and in this case the features of the tumor are highly consistent with a diagnosis of either osteoblastoma or osteoid osteoma. SIGNIFICANCE: The identification of novel neoplastic cases in paleopathology represents an important contribution to ongoing discussions regarding the temporality and regional variability of neoplastic conditions in the past. Additionally, a rigorous diagnostic study augmented by x-ray, CT scans, and 3D modeling provides data that can be utilized in future paleopathological studies. LIMITATIONS: Diagnostic interpretation would be aided by histological examination of the tumor, which was impossible in this case. Histological examination would provide a definitive diagnosis. SUGGESTIONS FOR FURTHER RESEARCH: Given the high incidence of benign tumors in the clinical literature but a paucity of reports in the paleopathological record, further research is indicated to better understand the implications of benign neoplasms in antiquity.

How I do it: lateral approach for craniocervical junction tumors.

BACKGROUND: The far lateral approach has been developed to access lesions at the craniocervical junction and upper cervical spinal canal. Associated morbidity triggered the development of less invasive tailored approaches. METHOD: In this lateral approach to the craniocervical junction, the occipital condyle is kept intact, vertebral artery manipulation is minimized, and the sigmoid sinus is not skeletonized. A linear incision through skin and muscles and use of an abdominal wall fat graft minimize the risk of cerebrospinal fluid leakage. CONCLUSIONS: The exposure provided is sufficient for the majority of tumors in this region and allows for low complication rates.

Giant Cell Tumour Of The Occipital Bone In A 13-Year Old Male.

Giant Cell Tumours (GCT) are usually found at the extremities of the long bones and their presence in the skull being less than 1%. In the skull, sphenoidal bone and temporal bone are the commonest sites. There have been very few reports of GCTs of the occipital bone. Total excision surgery is the ideal treatment of choice. If surgery poses a problem, then adjuvant radiotherapy can be administered too. We present a case of 13-year-old male child who was diagnosed with GCT of the occipital bone. He was successfully operated and is symptom free 6 months post his surgery till now.

Skull shape abnormalities in ischemic cerebrovascular and mental diseases in adults.

Morphological changes in the child skull due to mechanical and metabolic stimulation and synostosis of the suture are well known. On the other hand, few studies have focused on clinical conditions relevant for adult skull deformity. We retrospectively reviewed computed tomography (CT) findings obtained from 365 cases that were treated for head injuries, moyamoya disease, cervical internal carotid artery stenosis, and mental diseases, and investigated the morphological changes in the skull associated with these diseases. The findings from head injuries were used not only for control subjects, but also for the analysis of generational changes in skull shape based on birth year. Head shape had a brachiocephalic tendency with occipital flattening in people born from the 1950s onwards. Cases of moyamoya disease, cervical internal carotid artery stenosis, and mental diseases showed significantly thicker frontal and occipital bone than those of control subjects. The skull thickening was especially noticeable in the frontal bone in moyamoya disease. Plagiocephaly was significantly frequent in moyamoya disease. These uncommon skull shapes are useful CT findings in screening subjects for early evidence of mental diseases and intracranial ischemic diseases with arterial stenosis.

Application of Enhanced Recovery after Surgical Treatment of the Occipitocervical Region.

OBJECTIVE: The concept of enhanced recovery after surgery (ERAS) has been proposed to provide guidance for the improved postoperative rehabilitation of patients with occipitocervical region disease (ORD). METHODS: This study retrospectively investigated 208 consecutive patients (116 men and 92 women) ranging in age from 22 to 76 years with ORD between July 2014 and June 2017 in our medical center, who were divided into three groups that received different preoperative, intraoperative, and postoperative management plans: traditional group (n = 73), ameliorated group (n = 70), and ERAS group (n = 65). We compiled a range of data relating to demographics and postoperative changes in hemoglobin and albumin, surgery duration, intraoperative blood loss, number of postoperative hospitalization days and expenses, readmission rates, and visual analog scale pain symptoms. Data were statistically evaluated using one-way analysis of variance with Student-Newman-Keuls-q post hoc tests or chi-square tests. RESULTS: There were no significant differences in terms of age (P = 0.235), gender (P = 0.691), body mass index (P = 0.723), American Society of Anesthesiologists grade (0.747), lesion character (P = 0.337) and lesion site (P = 0.957) between the three groups. Within a 6 months follow-up period, there was no significant difference between the three groups in terms of surgery duration (P = 0.225), blood loss (P = 0.172), changes in hemoglobin (P = 0.255) and albumin (P = 0.178). However, postoperative hospitalization days (P = 0.000), postoperative costs (P = 0.019) and improvement of pain symptoms (P = 0.000) in ERAS group were significantly lower or higher than those in traditional group or ameliorated group, respectively. There were 29 (39.73%), 22 (31.43%), and 13 (20.00%), recorded cases of postoperative complications in traditional group, ameliorated group and ERAS group, respectively; complications in ERAS group were significantly lower than those in other two groups (P = 0.043). Moreover, all of the complications were mitigated effectively by the infusion of fluid, analgesia, treatment of infections, or antiemetic medications. There were 2 (2.74%), 3 (4.29%) and 2 (3.08%), recorded cases of re-admission in traditional group, ameliorated group and ERAS group, respectively, but there were no statistically significant differences when compared across the three groups (P = 0.866). CONCLUSIONS: ERAS can provide benefits when it applied to patients undergoing ORD surgery mainly in terms of reducing postoperative complications, however, ERAS does not increase the economic burden of patients or decrease the risk of readmission.

Posttraumatic Delayed Jugular Foramen Syndrome in a Toddler.

BACKGROUND: Multiple lower cranial nerve palsies have been attributed to occipital condyle fractures in older children and adults, but no clinical details of other possible mechanisms have been described in infants. CASE REPORT: A 33-month-old boy suffered blunt head trauma. A bilateral skull base fracture was diagnosed, with favorable outcome during the first days after trauma. On the sixth day, the patient began to refuse drinking and developed hoarseness. Physical examination and additional investigations revealed paralysis of left VII, IX, X, and XI cranial nerves. A follow-up computed tomography (CT) scan disclosed a left petrous bone fracture involving the lateral margin of the jugular foramen, and a cranial magnetic resonance imaging (MRI) study showed a left cerebellar tonsil contusion. He improved after methylprednisolone was started. Three months later, he was asymptomatic, although mild weakness and atrophy of the left sternocleidomastoid and trapezius muscles remained 1 year later. DISCUSSION: A posttraumatic "jugular foramen syndrome" is rare in children, but it has been reported shortly after occipital condyle fracture, affecting mainly IX, X, and XI cranial nerves. In this toddler, delayed symptoms appeared with unilateral involvement. While an occipital fracture was ruled out, neuroimaging findings suggest the hypothesis of a focal contusion as a consequence of a coup-contrecoup injury. CONCLUSION: This exceptional case highlights the importance of gathering physical examination, anatomical correlation, and neuroimaging to yield a diagnosis.

Langerhans cell histiocytosis in the occipital condyle: a case study and a brief review of the literature.

We present a case study of a 5-year-old patient, who presented with left-sided torticollis. Due to persistence of problems, a CT and an MRI were made showing a single osteolytic lesion centred on right occipital condyle. After an open biopsy, histology confirmed it to be Langerhans cell histiocytosis (LCH). Torticollis or restricted range of motion is a presenting feature in 76% of children with LCH with cervical involvement. There remains much debate on the best treatment strategy. The clinical and radiological outcomes of the case study presented on this article support the treatment of LCH with chemotherapy in cases with solitary involvement of the occipital condyle.

Posterior Fossa Dimensions of Chiari Malformation Patients Compared with Normal Subjects: Systematic Review and Meta-Analysis.

BACKGROUND: Chiari malformation (CM) is defined as a herniation of cerebellar tonsils below the foramen magnum and is considered to be due to underdevelopment of posterior fossa (PF) bone components. There is overcrowding of neural structures, and normal cerebrospinal fluid circulation is frequently blocked. Although several publications exist of measurements of dimensions and volumes from bone components of PF in CM, there is no systematic review evaluating quantitatively these dimensions. The aim of this study was to evaluate PF dimensions and volumes in a meta-analysis. METHODS: An electronic search using PubMed and Google Scholar was done. Study eligibility criteria were defined by the PICO strategy, which selected patients and interventions. Studies comparing PF dimensions between patients with CM and normal subjects were selected. A meta-analysis of pooled data was done using statistical software. RESULTS: Data for pooled analysis were obtained from 12 studies. Data synthesis was based on small published sample sizes in the majority of studies. Key findings included smaller measurements of clivus, supraoccipital bone, and PF area dimensions in patients with CM compared with normal subjects. Brainstem and cerebellar length was not different between groups. CONCLUSIONS: This review provides evidence of smaller measurements of clivus, supraoccipital bone, and PF area dimensions in patients with CM compared with normal subjects. An implication of the key findings is that surgical treatment of CMs should consider the smaller dimensions of PF in planning.

Multiple Occipital Bone Lytic Lesions Containing Ectopic Cerebellar Parenchyma Mimicking Neoplasia.

BACKGROUND: Nonlethal neural tube defects are developmental malformations with complex pathogenesis usually manifested at birth or in childhood. CASE DESCRIPTION: We report the case of a 61-year-old woman without significant previous clinical history presenting for neck pain and stiffness. An extensive workup detected multiple lytic lesions within the occipital bone and cervical vertebrae, suspicious for multiple myeloma or metastatic disease. Surgical resection of the occipital bone lesions revealed ectopic cerebellar tissue, some containing folia with mature cortical lamination, and no evidence of malignancy. CONCLUSIONS: To our knowledge, this study describes the oldest individual presenting with ectopic cerebellar tissue and the only instance in which oncologic workup for malignancy was carried out prior to resection. It also proposes surgical resection as a diagnostic and curative approach for this complex basicranium and neural developmental defect, and discusses retinoic acid toxicity as a possible cause of its occurrence.

IgG4-Related Disease of the Craniovertebral Junction.

BACKGROUND: The majority of the abnormalities and diseases that affect the craniovertebral junction (CVJ) have already been reported, and therefore it is exceedingly rare to identify new pathology that affects the CVJ. Immunoglobulin G4-related disease (IgG4-RD) is an immune mediated process treated with immunosuppressive medications. To our knowledge, this is the first reported case of IgG4-RD affecting the CVJ. CASE DESCRIPTION: The authors report the case of a woman aged 71 years with IgG4-RD of the CVJ. She presented with intractable left occipital pain and limited flexion, extension, and rotation of the neck. Computed tomography and magnetic resonance imaging revealed a lytic enhancing lesion of the left occipital condyle, left C1 lateral mass, and left C1 anterior arch resulting in cranial settling, basilar invagination, and CVJ instability. An open biopsy, subtotal resection, and occiput to C2 fusion was performed. Pathology revealed IgG4-RD. The patient was subsequently placed on rituximab immunotherapy with complete resolution of enhancement on magnetic resonance imaging and bone growth at the previous site of the lytic IgG4-RD lesion. CONCLUSIONS: To our knowledge, this case describes the first case of IgG4-RD affecting the CVJ, which mimicked a tumor-like process. When IgG4-RD affects the CVJ, stability must be accounted for, especially in the cases of osteolytic destruction. The combination of medical therapy to target the underlying inflammatory process and surgery to provide structural stability was successful.

Cervicomedullary angle as an independent radiological predictor of postoperative neurological outcome in type A basilar invagination.

To propose an independent radiological index to evaluate surgical outcomes of A type basilar invagination, a retrospective study was conducted to compare the clinical outcome between procedures 1 and 2 by applying intraoperative consistent traction and manual reduction. Moreover, the atlantodental interval (ADI), cervicomedullary angle (CMA), bilateral sagittal inclination of atlantoaxial joint (SIAA) were measured and compared to pre-operation. Postoperatively, only these patients undergoing procedure 2 achieved significant neurological improvement. The ADIs and the SIAAs decreased in both groups, these differences are statistically significant between pre- and post- operation. For postoperative CMAs, only these patients undergoing modified surgery gained significant improvement of angle with mean 141°. We concluded that the CMA or SIAA could be a radiological predictor to evaluate surgical outcome in BI, among which the CMA is a more independent and easily measurable predictor that is closely correlated with satisfactory neurological improvements. Moreover, procedure 2 with intraoperative resistant cranial traction and manual reduction can help us achieve a good CMA.

Denosumab Therapy Obscures Histological Features of Giant Cell Tumor of Bone.

Giant cell tumor (GCT) of bone is a locally aggressive tumor with low metastatic potential, usually originating in long bones. Numerous spinal examples have been reported and thus GCTs can be encountered by neuropathologists. We describe a 69-year-old man with more than a 10-year history of GCT primary to the femur that had recently metastasized to the occipital skull bone. The patient had been receiving denosumab, an adjuvant therapy for GCT, prior to the metastasis. Review of the histological features of the original primary tumor in the femur showed archetypal features of GCT, but the posttreatment occipital skull metastasis showed a predominantly low-to-medium cell density spindle cell tumor with complete depletion of osteoclastic giant cells. Although this effect of the drug is increasingly being recognized by soft tissue pathologists, the current case illustrates the potentially confusing histology of postdenosumab-treated GCT for neuropathologists. The absence of giant cells leads the posttherapy primary or metastatic lesion to show histologic similarity to a multitude of benign and malignant fibro-osseous lesions or spindle cell sarcoma and highlights the importance of eliciting appropriate clinical history.

Traumatic posterior atlantooccipital dislocation with Jefferson and occipital condyle fractures: A case report.

RATIONALE: To the best of our knowledge, this is the first report on a case of a traumatic posterior atlantooccipital dislocation (AOD) with 3-part Jefferson and occipital condyle fractures. PATIENT CONCERNS: We report the case of a 60-year-old male with posterior AOD with 3-part Jefferson fracture and fracture of right occipital condyle. This injury occurred as a result of rolling down from a mountain. The patient complained of severe neck pain showing bony tenderness and ecchymosis in the high cervical area but did not show any neurologic abnormalities. DIAGNOSES: Reconstructed computed tomography scans clearly demonstrated a 3-part Jefferson fracture and fracture of right occipital condyle, and posteriorly displaced occiput with respect to the anterior arch of C1 and dens of C2. INTERVENTION: We planned to perform occipitocervical fusion; however, the patient refused treatment. He was transferred to another hospital and lost to follow-up. OUTCOMES: Although extremely rare, patient who had posterior AOD with 3-part Jefferson and occipital condyle fractures can survive without neurological compromise, as was observed in our patient. LESSONS: Clinical suspicion with thorough radiographic and physical examinations are very important for diagnosing of the upper cervical spine injuries such as AOD with Jefferson and occipital condyle fractures.

Morphometric and Radiomorphometric Study of the Correlation Between the Foramen Magnum Region and the Anterior and Posterolateral Approaches to Ventral Intradural Lesions.

AIM: To identify the range of dimensional morphometric variability correlated to the basilar and condylar part of the occipital bone, which may affect the choice of approach to ventral intradural foramen magnum (FM) lesions. MATERIAL AND METHODS: In total, 25 dry skulls and 50 head computed tomography (CT) scan results have been assessed in detail, focusing on the FM, occipital condyles, jugular tubercles (JT), and hypoglossal canals (HC). A morphometric analysis has been carried out using linear and angular measurements to estimate the range of the dimensional variability of these structures. Data were presented as mean ± standard deviation, ranges, and interquartile range on a boxplot. The sagittal intercondylar angle (SICA) and anterior condylar angle (ACA) have been found to be important in estimating the axial orientation of the condyles, whereas the JT-HC interline ratio has indicated the prominence of the tubercles. RESULTS: The SICA and ACA have exhibited high variability. The average JT-HC interline ratio was 0.8. Wider SICA-ACA and higher JT-HC interline ratio make the posterolateral approach advantageous. An anterior medial or far-medial endoscopic route is indicated in opposite conditions. In this study, two illustrative cases have been reported. CONCLUSION: A cautious preoperative morphometric evaluation of the FM region must be considered prior to using tailored and safe anterior endoscopic and posterolateral approaches to ventral intradural lesions to identify the advantages of a certain corridor as much as possible, thereby minimizing the risk of complications.

Occipital petalia as a predictive imaging sign for transverse sinus dominance.

OBJECTIVES: Occipital petalia is an anatomic description where one of the occipital lobes protrudes towards the contralateral side. Transverse sinus (TS) asymmetry might cause diagnostic challenges with regards to thrombotic or compressive pathologies involving these sinuses. In this study, we investigated the association between occipital petalia and TS hypoplasia on MRI studies. METHODS: In 264 subjects with no neurological complaints, occipital bending was determined on T1-weighted images based on the angulation of interhemispheric fissure between occipital lobes with respect to an imaginary midline. TS asymmetry was evaluated visually. Information on handedness and ocular dominance was also gathered from all participants. RESULTS: Rightwards bending was observed in 72 subjects (27%), whereas leftwards bending was present in only 10 participants (4%). The presence or direction of bending was related neither to hand nor ocular dominance. In participants with rightwards bending, 72% had a larger TS on the right-side, while only a single subject had a left-sided predilection for venous drainage. In subjects with leftwards bending, 70% had a left-dominant TS drainage system and none had a larger TS on the right. Overall, the direction of bending was predictive of TS dominance on the ipsilateral side with a PPV of 72% (95%CI, 60-82%) for right and 70% (95%CI, 35-92%) for left. DISCUSSION: The direction of bending, a relatively straightforward radiologic diagnosis, is closely linked to the side of TS hypoplasia, and thereby might provide physicians with an additional diagnostic clue regarding the interpretation of imaging findings related to TSs and their pathologies.