المؤلفون: Jong Seok Lee, Youngbo Shim, Tae-Joon Cho, Seung-Ki Kim, Jung Min Ko, Ji Hoon Phi

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Achondroplasia, Head circumference, Growth, Hydrocephalus, Foramen magnum decompression, Ventriculoperitoneal shunt, Medicine

الوصف: Abstract Background Achondroplasia is an autosomal dominant disorder mainly affecting bony growth, typically resulting in markedly short stature. From a neurosurgical viewpoint, patients sometimes develop spinal cord compression at the narrowed foramen magnum and hydrocephalus. This study aims to construct growth references for height, weight, and head circumference (HC) of young achondroplasia patients in Korea and to evaluate the predictability of the necessity and timing of neurosurgical procedures through growth patterns. Methods Growth data were collected from achondroplasia patients who visited our institution between January 2002 and August 2022. First, we constructed percentile growth curves of height, weight, and HC for the patients under 3 years of age with the generalized additive model for location, scale, and shape (GAMLSS). Second, the growth patterns of the patients with hydrocephalus who underwent neurosurgical procedures such as foramen magnum decompression (FMD) and ventriculoperitoneal (VP) shunt were analyzed. Results There were 125 achondroplasia patients, including 67 males and 58 females. Among 125 patients, 46 underwent FMD, and 5 underwent VP shunt. As short stature and macrocephaly were typical characteristics of achondroplasia, the height of achondroplasia was lower than that of the general population, and HC in achondroplasia showed accelerated growth postnatally. There were no significant changes in HC in hydrocephalus patients before they underwent neurosurgical procedures. The influence of hydrocephalus on the growth patterns of HC in achondroplasia seemed insignificant. Conclusion Growth references for height, weight, and HC in young achondroplasia patients were constructed. It is the first report of growth patterns of achondroplasia in Korea. Unlike other pediatric patients, the diagnosis of hydrocephalus and the necessity of neurosurgical procedures are hard to be predicted with HC in achondroplasia. Neuroimaging should be considered for achondroplasia patients with neurological symptoms.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/939481e31c364f758f214268199f3d82Test

المؤلفون: Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Achondroplasia, European Achondroplasia Forum, Foramen Magnum Stenosis, Guiding principles, Detection, Management, Medicine

الوصف: Abstract 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.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/eb78080e2c434377aaa9e8a9291addefTest

المؤلفون: Pengfei Wu, Yanlei Guan, Minghao Wang, Luyang Zhang, Dan Zhao, Xiao Cui, Jiyuan Liu, Bo Qiu, Jun Tao, Yunjie Wang, Shaowu Ou

المصدر: Chinese Neurosurgical Journal, Vol 9, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Classification, Anatomical triangles, Foramen magnum meningioma, Microsurgical treatment, Far lateral approach, Surgery, RD1-811, Neurology. Diseases of the nervous system, RC346-429

الوصف: Abstract Background To investigate the classification and microsurgical treatment of foramen magnum meningioma (FMM). Methods We retrospectively analyzed 76 patients with FMM and classified them into two classifications, classification ABS according to the relationship between the FMM and the brainstem and classification SIM according to the relationship between the FMM and the vertebral artery (VA). All patients underwent either the far lateral approach (54 cases) or the suboccipital midline approach (22 cases). Results Of the 76 cases, 47 cases were located ahead of the brainstem (A), 16 cases at the back of the brainstem (B), and 13 cases were located laterally to the brainstem (S). There were 15 cases located superior to the VA (S), 49 cases were inferior (I), and 12 cases were mixed type (M). Among 76 cases, 71 cases were resected with Simpson grade 2 (93.42%), 3 with Simpson grade 3 (3.95%), and 2 with Simpson grade 4 (2.63%). We summarized four anatomical triangles: triangles SOT, VOT, JVV, and TVV. The mean postoperative Karnofsky performance score was improved in all patients (p < 0.05). However, several complications occurred, including hoarseness and CSF leak. Conclusion ABS and SIM classifications are objective indices for choosing the surgical approach and predicting the difficulty of FMMs, and it is of great importance to master the content, position relationship with the tumor, and variable anatomical structures in the four “triangles” for the success of the operation.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2057-4967Test

الوصول الحر: https://doaj.org/article/6129d19c45c34ed0ac2a6db663bdb823Test