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Molecular Genetics & Genomic Medicine Feb 2024Intellectual disability (ID) refers to a childhood-onset neurodevelopmental disorder with a prevalence of approximately 1%-3%.
BACKGROUND
Intellectual disability (ID) refers to a childhood-onset neurodevelopmental disorder with a prevalence of approximately 1%-3%.
METHODS
We performed whole exome sequencing for the patient with ID. And the splicing variant we found was validated by minigene assay.
RESULTS
Here, we report a boy with ID caused by a variant of CNKSR2. His neurological examination revealed hypsarrhythmia via electroencephalography and a right temporal polar arachnoid cyst via brain magnetic resonance imaging. A novel splicing variant in the CNKSR2 gene (NM_014927.5, c.1657+1G>A) was discovered by exome sequencing. The variant caused a 166 bp intron retention between exons 14 and 15, which was validated by a minigene assay. The variant was not reported in public databases such as gnomAD and the Exome Aggregation Consortium.
CONCLUSIONS
The variant was predicted to be damaging to correct the translation of the CNKRS2 protein and was classified as likely pathogenic according to the ACMG guidelines.
Topics: Male; Child; Humans; Developmental Disabilities; Mental Retardation, X-Linked; Intellectual Disability; RNA Splicing; Neurodevelopmental Disorders; Adaptor Proteins, Signal Transducing
PubMed: 38337158
DOI: 10.1002/mgg3.2389 -
PloS One 2024Atlanto-axial instability is a common disease that affects toy-breed dogs. Most cases of atlanto-axial instability are congenital. Furthermore, patients with...
Atlanto-axial instability is a common disease that affects toy-breed dogs. Most cases of atlanto-axial instability are congenital. Furthermore, patients with atlanto-axial instability are predisposed to other concurrent diseases. Therefore, this study aimed to retrospectively determine the presence of concurrent diseases in cases with atlanto-axial instability using imaging data and analyze the relationship between clinical parameters and the incidence of complex malformations. The clinical data and imaging findings of 41 toy-breed dogs diagnosed with atlanto-axial instability were analyzed using their medical records and imaging data. Occipital dysplasia (17/27), atlanto-occipital overlapping (22/34), dens dysplasia (27/41), Chiari-like malformation (8/34), syringomyelia (5/34), lateral ventricular enlargement (20/36), and intracranial arachnoid cyst (5/35) were observed in patients with atlanto-axial instability. The body weight of the patients in the groups with atlanto-occipital overlapping and lateral ventricular enlargement was lower than that of those in the groups without these diseases (1.78 ± 0.71 vs 2.71 ± 1.15 kg, P = 0.0269, 1.60 ± 0.40 vs 2.75 ± 1.08 kg, P = 0.001, respectively). Furthermore, when the correlation between the total number of concurrent diseases and the age at onset and body weight was examined, it became clear that lower body weight was associated with the incidence of a greater number of concurrent diseases. Thus, the findings of this study suggest that toy-breed dogs are more likely to present with complex malformations and should be evaluated carefully with additional examinations and treatment methods.
Topics: Humans; Dogs; Animals; Retrospective Studies; Dog Diseases; Syringomyelia; Physical Examination; Body Weight; Atlanto-Axial Joint
PubMed: 38324604
DOI: 10.1371/journal.pone.0293363 -
Cureus Jan 2024Arachnoid cysts are abnormal intradural collections of cerebrospinal fluid. For posterior fossa arachnoid cysts (PFACs), symptoms vary greatly, often relating to cranial...
Arachnoid cysts are abnormal intradural collections of cerebrospinal fluid. For posterior fossa arachnoid cysts (PFACs), symptoms vary greatly, often relating to cranial nerve impingement and/or hydrocephalus. Literature on long-term symptomatic and radiographic follow-up of PFACs is lacking. This case study describes a 32-year-old man who presented with headaches and left-sided hearing loss and was found to have a large left-sided cerebellopontine angle arachnoid cyst with syrinx and ventriculomegaly. After PFAC fenestration and excision, his headaches resolved and his hearing markedly improved. At the one-year postoperative evaluation, symptom improvement persisted, and MRI demonstrated a stable decreased cyst and near-complete resolution of his syrinx.
PubMed: 38318550
DOI: 10.7759/cureus.51750 -
Journal of Neurosurgery. Case Lessons Feb 2024Spontaneous spinal subarachnoid hemorrhage is a rare pathological entity with a variety of presentations depending on the underlying etiology, which often remains...
BACKGROUND
Spontaneous spinal subarachnoid hemorrhage is a rare pathological entity with a variety of presentations depending on the underlying etiology, which often remains cryptogenic. The literature is sparse regarding the most efficacious treatment or management option, and there is no consensus on follow-up time or modalities. Additionally, there are very few reports that include operative videos, which is provided herein.
OBSERVATIONS
The authors present a case of spontaneous spinal subarachnoid hemorrhage without an underlying etiology in a patient with progressive myelopathy, back pain, and lower-extremity paresthesias. She presented to our institution, and because of progressive worsening of her symptoms and the development of compressive arachnoid cysts, she underwent thoracic laminectomies for evacuation of subdural fluid, fenestration of the arachnoid cysts, and lysis of significant arachnoid adhesions. Her clinical course was further complicated by the recurrence of worsening myelopathy and the development of a large compressive arachnoid cyst with further arachnoiditis. The patient underwent repeat surgical intervention for cyst decompression with an improvement in symptoms.
LESSONS
This case highlights the importance of long-term follow-up for these complicated cases with an emphasis on repeat magnetic resonance imaging. Unfortunately, surgical intervention is associated with short-term relief of the symptoms and no significant nonoperative management is available for these patients.
PubMed: 38315980
DOI: 10.3171/CASE23660 -
Cureus Dec 2023Spinal adhesive arachnoiditis is a rare occurrence with a diverse etiology. The clinical picture is not universal, and varying degrees of neurodeficit have been...
Spinal adhesive arachnoiditis is a rare occurrence with a diverse etiology. The clinical picture is not universal, and varying degrees of neurodeficit have been mentioned. Spontaneous spinal cord herniation or idiopathic spinal cord herniation occurs due to displacement of the cord through a dural or arachnoid defect. We report a case of a 29-year-old male paraplegic patient with a nontraumatic spinal cord injury (SCI) following surgery for an intradural extramedullary lesion at T10-T11 level who developed loss of truncal balance after two years of the index surgery. After a thorough clinical examination and MRI as well as other investigations, the patient was diagnosed as having spontaneous-onset delayed spinal arachnoiditis with dorsal cord herniation through the laminectomy window with effacement of neural tissue and ascending edema up to T6 level. A new-onset weakness or the development of an ascending loss of sensory level with a loss of truncal balance should alarm the therapist about some new pathology happening at the cord level in patients with SCI. In this regard, spinal adhesive arachnoiditis with or without cord herniation should always be suspected in a paraplegic patient with delayed-onset deterioration of neurology. Differential diagnoses like arachnoid web and arachnoid cysts should also be kept in mind.
PubMed: 38292951
DOI: 10.7759/cureus.51374 -
Radiology Case Reports Apr 2024Microcystic meningioma is an uncommon subtype of World Health Organization grade 1 meningiomas often associated with a shorter progression-free survival. Diagnosis...
Microcystic meningioma is an uncommon subtype of World Health Organization grade 1 meningiomas often associated with a shorter progression-free survival. Diagnosis through imaging alone can often be challenging due to atypical characteristics, especially when found in unexpected locations. Here, we present a 55-year-old woman who was diagnosed, based on imaging, with a posterior fossa arachnoid cyst 5 years prior after complaints of headaches and gait imbalance. After surgical resection of the "arachnoid cyst," the diagnosis of microcystic meningioma was made. This case report emphasizes the clinical importance and challenges associated with diagnosing microcystic meningiomas.
PubMed: 38292808
DOI: 10.1016/j.radcr.2023.12.065 -
Frontiers in Neurology 2023The rhomboid lip (RL) is a layer of neural tissue that extends outside the fourth ventricle and is connected to the lateral recess of the fourth ventricle. Although this...
The rhomboid lip (RL) is a layer of neural tissue that extends outside the fourth ventricle and is connected to the lateral recess of the fourth ventricle. Although this anatomical structure has been rigorously studied, it is often overlooked in microvascular decompression (MVD) surgery. In this report, we present two cases, one of hemifacial spasm (HFS) and one of glossopharyngeal neuralgia (GPN), in which a large RL was observed during surgery. We found that a large RL is easily confused with arachnoid cysts, and accurate identification and dissection are important to protect the lower cranial nerves.
PubMed: 38292034
DOI: 10.3389/fneur.2023.1336273 -
Journal of Neurosurgery. Case Lessons Jan 2024Arachnoid cysts are often congenital, asymptomatic lesions detected in the pediatric population. When seen in adults, they usually occur following trauma. De novo...
BACKGROUND
Arachnoid cysts are often congenital, asymptomatic lesions detected in the pediatric population. When seen in adults, they usually occur following trauma. De novo formation of arachnoid cysts is uncommon, with only a few instances cited in the literature and most of which occurred in the pediatric population. Treatment options for these lesions include observation, craniotomy for cyst resection, microsurgical/endoscopic fenestration, or shunting.
OBSERVATIONS
In this report, the authors describe a female patient with a de novo, symptomatic, enlarging middle cranial fossa arachnoid cyst detected at age 16 years. She was treated with the placement of a cystoperitoneal shunt. After surgery, she experienced clinical and radiological improvement.
LESSONS
We illustrate successful shunting of a de novo arachnoid cyst in a symptomatic teen patient. Although arachnoid cysts in certain intracranial locations are more likely to produce symptoms, those in the middle cranial fossa tend to be asymptomatic. To our knowledge, this is the first reported case of a symptomatic de novo arachnoid cyst located in the middle cranial fossa in a postpubertal patient. Although the current presentation is rare, the authors demonstrate an effective surgical treatment of a symptomatic, large, de novo arachnoid cyst in a postpubertal pediatric patient.
PubMed: 38285974
DOI: 10.3171/CASE23584 -
Acta Neurochirurgica Jan 2024The best treatment strategies for cerebral arachnoid cysts (CAC) are still up for debate. In this study, we present CAC management, outcome data, and risk factors for...
OBJECTIVE
The best treatment strategies for cerebral arachnoid cysts (CAC) are still up for debate. In this study, we present CAC management, outcome data, and risk factors for recurrence after surgical treatment, focusing on microscopic/endoscopic approaches as compared to minimally invasive stereotactic procedures in children and adults.
METHODS
In our single-institution retrospective database, we identified all patients treated surgically for newly diagnosed CAC between 2000 and 2022. Microscopic/endoscopic surgery (ME) aimed for safe cyst wall fenestration. Stereotactic implantation of an internal shunt catheter (STX) to drain CAC into the ventricles and/or cisterns was used as an alternative procedure in patients aged ≥ 3 years. Treatment decisions in favor of ME vs. STX were made by interdisciplinary consensus. The primary study endpoint was time to CAC recurrence (TTR). Secondary endpoints were outcome metrics including clinical symptoms and MR-morphological analyses. Data analysis included subdivision of the total cohort into three distinct age groups (AG1, < 6 years; AG2, 6-18 years; AG3, ≥ 18 years).
RESULTS
Sixty-two patients (median age 26.5 years, range 0-82 years) were analyzed. AG1 included 15, AG2 10, and AG3 37 patients, respectively. The main presenting symptoms were headache and vertigo. In AG1 hygromas, an increase in head circumference and thinning of cranial calvaria were most frequent. Thirty-five patients underwent ME and 27 STX, respectively; frequency did not differ between AGs. There were two (22.2%) periprocedural venous complications in infants (4- and 10-month-old) during an attempt at prepontine fenestration of a complex CAC, one with fatal outcome in a 10-month-old boy. Other complications included postoperative bleeding (2, 22.2%), CSF leaks (4, 44.4%), and meningitis (1, 11.1%). Overall, clinical improvement and significant volume reduction (p = 0.008) were seen in all other patients; this did not differ between AGs. Median follow-up for all patients was 25.4 months (range, 3.1-87.1 months). Recurrent cysts were seen in 16.1%, independent of surgical procedure used (p = 0.7). In cases of recurrence, TTR was 7.9 ± 12.7 months. Preoperative ventricular expansion (p = 0.03), paresis (p = 0.008), and age under 6 years (p = 0.03) were significant risk factors for CAC recurrence in multivariate analysis.
CONCLUSIONS
In patients suffering from CAC, both ME and STX can improve clinical symptoms at low procedural risk, with equal extent of CAC volume reduction. However, in infants and young children, CAC are more often associated with severe clinical symptoms, stereotactic procedures have limited use, and microsurgery in the posterior fossa may bear the risk of severe venous bleeding.
Topics: Child; Infant; Male; Adult; Humans; Child, Preschool; Infant, Newborn; Adolescent; Young Adult; Middle Aged; Aged; Aged, 80 and over; Arachnoid Cysts; Retrospective Studies; Endoscopy; Ventriculostomy; Microsurgery; Treatment Outcome
PubMed: 38280116
DOI: 10.1007/s00701-024-05950-1