-
Orphanet Journal of Rare Diseases Jul 2023Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia,...
Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the first 2 years and premature closure of skull plate synchondroses can contribute to narrowing. Narrowing of the foramen magnum can lead to compression of the brainstem and spinal cord, and result in sleep apnoea and sudden death. There is a lack of clarity in the literature on the timing of regular monitoring for foramen magnum stenosis, which assessments should be carried out and when regular screening should be ceased. The European Achondroplasia Forum (EAF) is a group of clinicians and patient advocates, representative of the achondroplasia community. Members of the EAF Steering Committee were invited to submit suggestions for guiding principles for the detection and management of foramen magnum stenosis, which were collated and discussed at an open workshop. Each principle was scrutinised for content and wording, and anonymous voting held to pass the principle and vote on the level of agreement. A total of six guiding principles were developed which incorporate routine clinical monitoring of infants and young children, timing of routine MRI screening, referral of suspected foramen magnum stenosis to a neurosurgeon, the combination of assessments to inform the decision to decompress the foramen magnum, joint decision making to proceed with decompression, and management of older children in whom previously undetected foramen magnum stenosis is identified. All principles achieved the ≥ 75% majority needed to pass (range 89-100%), with high levels of agreement (range 7.6-8.9). By developing guiding principles for the detection and management of foramen magnum stenosis, the EAF aim to enable infants and young children to receive optimal monitoring for this potentially life-threatening complication.
Topics: Child; Infant; Humans; Adolescent; Child, Preschool; Foramen Magnum; Constriction, Pathologic; Achondroplasia; Sleep Apnea Syndromes; Spinal Cord; Bone Diseases
PubMed: 37501185
DOI: 10.1186/s13023-023-02795-2 -
Scientific Reports Jul 2023The cisterna magna has been defined as the space between the inferior margin of the cerebellar vermis to the level of the foramen magnum, while an enlarged dorsal...
The cisterna magna has been defined as the space between the inferior margin of the cerebellar vermis to the level of the foramen magnum, while an enlarged dorsal subarachnoid space at the occipito-cervical junction extending from the foramen magnum to the upper border of the axis (C2) is still ignored. Recently, the myodural bridge complex is proved to drive the cerebral spinal fluid flowing via this region, we therefore introduce the "occipito-atlantal cistern (OAC)" to better describe the subarachnoid space and provide a detailed rationale. The present study utilized several methods, including MRI, gross anatomical dissection, P45 sheet plastination, and three-dimensional visualization. OAC was observed to be an enlarge subarachnoid space, extending from the foramen magnum to the level of the C2. In the median sagittal plane, OAC was a funnel shape and its anteroposterior dimensions were 15.92 ± 4.20 mm at the level of the C0, 4.49 ± 1.25 mm at the level of the posterior arch of the C1, and 2.88 ± 0.77 mm at the level of the arch of the C2, respectively. In the median sagittal plane, the spino-dural angle of the OAC was calculated to be 35.10 ± 6.91°, and the area of OAC was calculated to be 232.28 ± 71.02 mm. The present study provides OAC is a subarachnoid space independent from the cisterna magna. Because of its distinctive anatomy, as well as theoretical and clinical significance, OAC deserves its own name.
Topics: Subarachnoid Space; Foramen Magnum; Neck; Spinal Cord; Cisterna Magna
PubMed: 37495633
DOI: 10.1038/s41598-023-38825-z -
Medicine Jul 2023The synergistic effect between nonmalignant lesions can also cause a serious impact on patient survival. This disease involves different organ systems and presents with...
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.
Topics: Humans; Male; Middle Aged; Cafe-au-Lait Spots; Neurofibromatoses; Neurofibromatosis 1; Occipital Bone; Tomography, X-Ray Computed
PubMed: 37478251
DOI: 10.1097/MD.0000000000034413 -
Infection and Drug Resistance 2023is an aerobic opportunistic Gram-negative pathogen that mainly infects immunodeficiency patients. However, soft tissue infections with fractures due to are rare with...
is an aerobic opportunistic Gram-negative pathogen that mainly infects immunodeficiency patients. However, soft tissue infections with fractures due to are rare with no cases reported. Here, we report a rare case of 3 years of brain death in a 43-year-old woman with resulting in an occipital subcutaneous abscess and fracture. Through the second-generation sequencing of the whole genome of this strain, it was found that there were no high virulence genes and virulence factors. The patient received targeted antibiotic therapy and showed improvement in clinical symptoms and radiological signs. Bone destruction because of is easily overlooked due to the lack of characteristic symptoms and limited clinical examination. This case reminds us that without major virulence factors could damage the bone in immune-compromised patients.
PubMed: 37457794
DOI: 10.2147/IDR.S418967 -
Journal of Craniovertebral Junction &... 2023Prospective human anatomical study.
STUDY DESIGN
Prospective human anatomical study.
OBJECTIVE
Occipitocervical fusion with occipital plate or condyle screws has shown higher failure rates in those with skeletal dysplasia. The modified occipital condyle screw connects the occipital condyle to the pars basilaris of the occipital bone that may achieve fortified bony purchase and serve as a more rigid fixation point. We evaluate anatomical feasibility of a novel cranial fixation technique designed to decrease risk of pseudarthrosis.
MATERIALS AND METHODS
Occipital condyles were analyzed morphologically using multiplanar three-dimensional reconstructed, ultra-thin section computed tomography. The following parameters were obtained: occipital condyle length, maximal cross section, location of hypoglossal canal, axial and sagittal orientation of the long axis, occipital condyle pedicle (OCP) diameter, maximal length of OCP screw, and entry point.
RESULTS
Forty patients with total of 80 occipital condyles were analyzed and the following measurements were obtained: occipital condyle length 24.1 mm (20.5-27.7, standard deviation [SD]: 2.2); condyle maximum axial cross-section 12.6 mm (9-15.8, SD: 1.9); length of OCP screw 38.9 mm (29.3-44, SD: 5.7); diameter of OCP 3.4 mm (3.2-3.6, SD: 0.2); clearance below hypoglossal canal 4.5 mm (3.4-7, SD: 1.1); and distance of screw entry point from condylar foramen 2 mm (range 0-4, SD 1.6).
CONCLUSION
The modified occipital condyle screw connects the condyle with the clivus through the pars basilaris and represents a safe and technically feasible approach to achieve craniocervical fusion in skeletally mature individuals. This cephalad anchor point serves as an alternate fixation point of the occipitocervical junction with increased strength of construct and decreased risk of hardware failure or pseudarthrosis given cortical bone purchase and longer screw instrumentation.
PubMed: 37448506
DOI: 10.4103/jcvjs.jcvjs_27_23 -
Archives of Osteoporosis Jul 2023Tumor-induced osteomalacia (TIO) is an uncommon paraneoplastic syndrome due to the overproduction of fibroblast growth factor 23 (FGF23). It is predominantly caused by... (Review)
Review
INTRODUCTION
Tumor-induced osteomalacia (TIO) is an uncommon paraneoplastic syndrome due to the overproduction of fibroblast growth factor 23 (FGF23). It is predominantly caused by mesenchymal tumors and cured upon their complete removal. Non-surgical treatment is an alternative option but limited to specific clinical conditions.
METHODS
We report a challenging case of TIO caused by a tumor involving the occipital bone. We also performed a literature review of TIO caused by tumors localized at this site, focusing on clinical findings, treatment, and outcomes.
RESULTS
The patient, a 62-year-old male, presented with a long-lasting history of progressive weakness. Biochemical evaluation revealed severe hypophosphatemia due to low renal tubular reabsorption of phosphate with raised intact FGF23 values. A Ga-DOTATATE PET/TC imaging showed a suspicious lesion located in the left occipital bone that MRI and selective venous catheterization confirmed to be the cause of TIO. Stereotactic gamma knife radiosurgery was carried out, but unfortunately, the patient died of acute respiratory failure. To date, only seven additional cases of TIO have been associated to tumors located in the occipital bone. Furthermore, the tumor involved the left side of the occipital bone in all these patients.
CONCLUSION
The occipital region is a difficult area to access so a multidisciplinary approach for their treatment is required. If anatomical differences could be the basis for the predilection of the left side of the occipital bone, it remains to be clarified.
Topics: Male; Humans; Middle Aged; Neoplasms, Connective Tissue; Paraneoplastic Syndromes; Osteomalacia; Hypophosphatemia
PubMed: 37436671
DOI: 10.1007/s11657-023-01305-y