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Frontiers in Pediatrics 2022Campomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital systems. This condition has been associated with a diverse set of mutations in the...
BACKGROUND
Campomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital systems. This condition has been associated with a diverse set of mutations in the SRY-box transcription factor 9 () gene.
CASE PRESENTATION
We herein report a case involving a 4-year-old female patient with CD, female sex reversal, type 1 Arnold-Chiari malformation, and bilateral conductive hearing loss and investigate the causal mutation. Whole-exome sequencing analysis detected a novel Trp115X* variant in the gene. We performed a literature review of the reported cases and demonstrated that the missense variants were located only in the self-dimerization domain (DIM) and high-mobility group box domains. We also reported that variants in the DIM domain do not cause sex reversal and identified that the amino acid sequences that were mutated in the patients with campomelic dysplasia are evolutionarily conserved among primates.
CONCLUSIONS
We suggest that missense variants cannot be located in the K2, PQA, and PQS given that these domains function critically for transcriptional activation or repression of target genes and evolve under purifying selection.
PubMed: 36467484
DOI: 10.3389/fped.2022.975947 -
Neurosurgery Clinics of North America Jan 2023Anatomic MRI, MRI flow studies, and intraoperative ultrasonography demonstrate that the Chiari I malformation obstructs CSF pathways at the foramen magnum and prevents... (Review)
Review
Anatomic MRI, MRI flow studies, and intraoperative ultrasonography demonstrate that the Chiari I malformation obstructs CSF pathways at the foramen magnum and prevents normal CSF movement through the foramen magnum. Impaired CSF displacement across the foramen magnum during the cardiac cycle increases pulsatile hindbrain motion, pressure transmission to the spinal subarachnoid space, and the amplitude of CSF subarachnoid pressure waves driving CSF into the spinal cord. Central canal septations in adults prevent syrinx formation by CSF directly transmitting its pressure wave from the fourth ventricle to the central canal.
Topics: Adult; Humans; Syringomyelia; Hydrodynamics; Arnold-Chiari Malformation; Subarachnoid Space; Cerebrospinal Fluid Pressure
PubMed: 36424067
DOI: 10.1016/j.nec.2022.08.007 -
Neurology India 2022In this report, we describe a 6-month-old child having Type I split cord malformation (SCM), associated with meningomyelocele of one hemicord and lipomeningomyelocele of...
In this report, we describe a 6-month-old child having Type I split cord malformation (SCM), associated with meningomyelocele of one hemicord and lipomeningomyelocele of other hemicord at the same level along with Type II Chiari malformation. The classical embryological theories on split cord malformation and neurulation defect do not clearly explain such a complex entity at one level. The new research on the genetic association of posterior neuropore defect opens a new horizon of research on such genesis.
Topics: Humans; Infant; Arnold-Chiari Malformation; Magnetic Resonance Imaging; Meningomyelocele; Neural Tube Defects; Spinal Dysraphism
PubMed: 36412390
DOI: 10.4103/0028-3886.360939 -
Neurology India 2022Chiari 1 malformation has crowding at craniovertebral junction (CVJ), treated by Foramen magnum decompression (FMD) but is associated with high failure rates, which is...
Evaluation of Dural Parameters at C1 Level in Patients with Chiari 1 Malformation Following Foramen Magnum and C1 Posterior Arch Removal: Introduction of a Novel Concept to Decompress without Affecting Stability.
BACKGROUND
Chiari 1 malformation has crowding at craniovertebral junction (CVJ), treated by Foramen magnum decompression (FMD) but is associated with high failure rates, which is explained by recently introduced concept of central instability. So, we propose a new concept of relieving this crowding without affecting stability.
OBJECTIVE
To derive a threshold for coring out of internal surface of C1 posterior arch instead of complete laminectomy accompanying FMD.
METHODS AND MATERIAL
We prospectively included nine patients with a mean age of 25.33 ± 7.97 years, diagnosed with ACM-1 without AAD, who were operated with FMD and lax duraplasty and C1 laminectomy. The preoperative dural diameter and area covered under the dura at the level of C1 were measured and compared with the postoperative state. Results were analyzed to derive a cut-off threshold which could be drilled from the inner aspect of C1 arch.
RESULTS
The postoperative AP diameter of the dura increased statistically significantly from pre-op; however, the AP extension was less than the preoperative diameter with posterior arch included. Likewise, the area spanned by the dura increased statistically significantly from pre-op but was less than the cumulative area of dura with C1 arch included in pre-op. Analyzing all, a mean cut-off of 50.58% was achieved.
CONCLUSION
The authors suggest FMD with partial coring (~50%) of the inner part of arch of C1, instead of full-thickness laminectomy with a wider length of coring as the target, and this will serve the purpose intended, without increasing mobility.
Topics: Adolescent; Adult; Humans; Young Adult; Arnold-Chiari Malformation; Body Weights and Measures; Cervical Atlas; Decompression, Surgical; Dura Mater; Foramen Magnum; Joint Instability; Laminectomy
PubMed: 36412363
DOI: 10.4103/0028-3886.360922 -
Neurology India 2022
Topics: Humans; Syringomyelia; Scoliosis; Arnold-Chiari Malformation; Magnetic Resonance Imaging
PubMed: 36352639
DOI: 10.4103/0028-3886.359263 -
The American Journal of Case Reports Oct 2022BACKGROUND Patients with Arnold-Chiari Malformation I (CM-I) treated with foramen magnum decompression (FMD) can have ongoing neck pain, headaches, and other symptoms...
Neck pain and Headache Complicated by Persistent Syringomyelia After Foramen Magnum Decompression for Chiari I Malformation: Improvement with Multimodal Chiropractic Therapies.
BACKGROUND Patients with Arnold-Chiari Malformation I (CM-I) treated with foramen magnum decompression (FMD) can have ongoing neck pain, headaches, and other symptoms complicated by persistent syringomyelia, yet there is little research regarding treatment of these symptoms. CASE REPORT A 62-year-old woman with a history of residual syringomyelia following FMD and ventriculoperitoneal shunt for CM-I presented to a chiropractor with progressively worsening neck pain, occipital headache, upper extremity numbness and weakness, and gait abnormality, with a World Health Organization Quality of Life score (WHO-QOL) of 52%. Symptoms were improved by FMD 16 years prior, then progressively worsened, and had resisted other forms of treatment, including exercises, acupuncture, and medications. Examination by the chiropractor revealed upper extremity neurologic deficits, including grip strength. The chiropractor ordered whole spine magnetic resonance imaging, which demonstrated a persistent cervico-thoracic syrinx and findings of cervical spondylosis, and treated the patient using a multimodal approach, with gentle cervical spine mobilization, soft tissue manipulation, and core and finger muscle rehabilitative exercises. The patient responded positively, and at the 6-month follow-up her WHO-QOL score was 80%, her grip strength and forward head position had improved, and she was now able to eat using chopsticks. CONCLUSIONS This case highlights a patient with neck pain, headaches, and persistent syringomyelia after FMD for CM-I who improved following multimodal chiropractic and rehabilitative therapies. Given the limited, low-level evidence for these interventions in patients with persistent symptoms and syringomyelia after FMD, these therapies cannot be broadly recommended, yet could be considered on a case-by-case basis.
Topics: Female; Humans; Middle Aged; Syringomyelia; Arnold-Chiari Malformation; Foramen Magnum; Quality of Life; Neck Pain; Chiropractic; Decompression, Surgical; Magnetic Resonance Imaging; Headache; Treatment Outcome
PubMed: 36315459
DOI: 10.12659/AJCR.937826 -
BioMed Research International 2022Combining the dynamics of cerebrospinal fluid, our study investigates the clinical effects of syringomyelia after the combination of fourth ventricle-subarachnoid shunt...
OBJECTIVE
Combining the dynamics of cerebrospinal fluid, our study investigates the clinical effects of syringomyelia after the combination of fourth ventricle-subarachnoid shunt (FVSS) for recurrent Chiari (type I) malformations after cranial fossa decompression (foramen magnum decompression (FMD)).
METHODS
From December 2018 to December 2020, 15 patients with recurrent syringomyelia following posterior fossa decompression had FVSS surgery. Before and after the procedure, the clinical and imaging data of these individuals were retrospectively examined.
RESULTS
Following FVSS, none of the 15 patients experienced infection, nerve injury, shunt loss, or obstruction. 13 patients improved dramatically after surgery, while 2 patients improved significantly in the early postoperative period, but the primary symptoms returned 2 months later. The Japanese Orthopedic Association (JOA) score was 12.67 ± 3.95, which was considerably better than preoperatively ( = 3.69, 0.001). The MRI results revealed that the cavities in 13 patients were reduced by at least 50% compared to the cavities measured preoperatively. The shrinkage rate of syringomyelia was 86.67% (13/15). One patient's cavities nearly vanished following syringomyelia. The size of the cavity in the patient remain unchanged, and the cavity's maximal diameter was significantly smaller than the size measured preoperatively ( < 0.001) PC-MRI results indicated that the peak flow rate of cerebrospinal fluid at the central segment of the midbrain aqueduct and the foramen magnum in patients during systole and diastole were significantly reduced after surgery ( < 0.05).
CONCLUSION
After posterior fossa decompression, FVSS can effectively restore the smooth circulation of cerebrospinal fluid and alleviate clinical symptoms in patients with recurrent Chiari (type I) malformation and syringomyelia. It is a highly effective way of treatment.
Topics: Humans; Syringomyelia; Arnold-Chiari Malformation; Retrospective Studies; Foramen Magnum; Subarachnoid Space; Decompression, Surgical; Magnetic Resonance Imaging; Treatment Outcome
PubMed: 36277900
DOI: 10.1155/2022/9770323 -
Cureus Sep 2022A fluid-filled hole inside the parenchyma or central canal of the spinal cord causes syringomyelia, a neurological condition. It is most frequently linked to type 1...
A fluid-filled hole inside the parenchyma or central canal of the spinal cord causes syringomyelia, a neurological condition. It is most frequently linked to type 1 Chiari malformations. Syringomyelia can be caused by tumors in the spinal cord, trauma, and post-traumatic or infectious adhesive arachnoiditis. Syringomyelia is shown to have a prevalence of 8.4/100,000 to 0.9/10,000 in certain studies, making it one of the few unusual cases. A large proportion of patients are between 20 and 50 years of age. In our case, the patient is a 17-year-old boy who complained of tingling and weakness in both lower extremities, as well as loss of sensation in both hands. MRI of his spine revealed a Chiari I malformation involving evidence of medulla, fourth ventricle, and cerebellar vermis displacement into the foramen magnum. Arnold Chiari's malformation with cord syringomyelia and tonsillar herniation was diagnosed based on the symptoms and investigation findings. The goal of this case is to highlight the benefits of exercise treatment in improving the patient's quality of life, as physiotherapy protocol instillation is not practiced on a daily basis for such conditions.
PubMed: 36258946
DOI: 10.7759/cureus.29126 -
Turkish Neurosurgery 2023To compare the posterior cranial fossa (PCF) dimensions together with the measurements related to basilar invagination and platybasia of craniovertebral junction...
AIM
To compare the posterior cranial fossa (PCF) dimensions together with the measurements related to basilar invagination and platybasia of craniovertebral junction anomalies (CVJA) in CVJA (+) and CVJA (-) Chiari malformation Type 1 (CM1) patient groups with each other and with healthy control subjects.
MATERIAL AND METHODS
The study group was formed of 43 CM1 and 9 tonsillar ectopia (TE) patients.
RESULTS
A decrease was determined in the PCF vertical length (clivus and supraocciput line) and PCF volume and an increase in the transverse length (McRae and Twining line) in the CM1 cases compared to the healthy control group. There was no difference between the CVJA (+) and (-) CM1 groups in respect of the vertical and transverse length and PCF volume values. An increase in the classic and modified skull base angles was observed in the CVJA (+) CM1 group compared to the CVJA (-) CM1 group. The Wackenheim clivus angle was determined to be smaller in the CVJA (+) CM1 group compared to the CVJA (-) CM1 group.
CONCLUSION
The PCF is flattened and smaller in CM1 cases compared to normal control subjects. In the planning of CM1 operations, the angle parameters may be more useful than the PCF and CVJA length parameters between CVJA (+) and (-) CM1 groups. The significant decrease in postoperative recovery in the CVJA (+) CM1 group compared to the CVJA (-) CM1 group supports the need for additional operations and/or a different surgical technique in the treatment of CVJA (+) CM1 patients.
Topics: Humans; Magnetic Resonance Imaging; Skull Base; Cranial Fossa, Posterior; Tomography, X-Ray Computed; Arnold-Chiari Malformation
PubMed: 36128920
DOI: 10.5137/1019-5149.JTN.41458-22.1 -
Neurologia Medico-chirurgica Sep 2022We investigated the mechanism underlying Chiari malformation type I (CM-I) and classified it according to the morphometric analyses of posterior cranial fossa (PCF) and...
We investigated the mechanism underlying Chiari malformation type I (CM-I) and classified it according to the morphometric analyses of posterior cranial fossa (PCF) and craniocervical junction (CCJ). Three independent subtypes of CM-I were confirmed (CM-I types A, B, and C) for 484 cases and 150 normal volunteers by multiple analyses. CM-I type A had normal volume of PCF (VPCF) and occipital bone size. Type B had normal VPCF and small volume of the area surrounding the foramen magnum (VAFM) and occipital bone size. Type C had small VPCF, VAFM, and occipital bone size. Morphometric analyses during craniocervical traction test demonstrated instability of CCJ. Foramen magnum decompression (FMD) was performed in 302 cases. Expansive suboccipital cranioplasty (ESCP) was performed in 102 cases. Craniocervical posterolateral fixation (CCF) was performed for CCJ instability in 70 cases. Both ESCP and FMD showed a high improvement rate of neurological symptoms and signs (84.4%) and a high recovery rate of the Japanese Orthopaedic Association (JOA) score (58.5%). CCF also showed a high recovery rate of the JOA score (69.7%), with successful joint stabilization (84.3%). CM-I type A was associated with other mechanisms that caused ptosis of the brainstem and cerebellum (CCJ instability and traction and pressure dissociation between the intracranial cavity and spinal canal cavity), whereas CM-I types B and C demonstrated underdevelopment of the occipital bone. For CM-I types B and C, PCF decompression should be performed, whereas for small VPCF, ESCP should be performed. CCF for CCJ instability (including CM-I type A) was safe and effective.
Topics: Arnold-Chiari Malformation; Cranial Fossa, Posterior; Decompression, Surgical; Humans; Magnetic Resonance Imaging
PubMed: 36031349
DOI: 10.2176/jns-nmc.2022-0078