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Child's Nervous System : ChNS :... Oct 2023The purpose of this review article is to outline the natural history, pathogenesis, anatomic considerations and surgical decision-making in caring for patients with... (Review)
Review
PURPOSE
The purpose of this review article is to outline the natural history, pathogenesis, anatomic considerations and surgical decision-making in caring for patients with intracranial arachnoid cysts.
METHODS
A review of the literature for intracranial arachnoid cysts was performed using Embase, PubMed, and Web of Science databases, including review of the bibliographies of eligible articles and the author's own experience.
RESULTS
Among those reviewed, 59 relevant original articles were included as well as illustrative cases from the authors own experience.
CONCLUSIONS
Arachnoid cysts are congenital lesions characterized by split arachnoid membrane, thick collagen in the cyst wall, absent traversing trabecular processes within the cyst, and hyperplastic arachnoid cells in the cyst wall. The underlying etiology is not entirely known, and they occur in greater proportion in males and in greater incidence with various genetic conditions including Down syndrome, mucopolysaccharidosis, schizencephaly, neurofibromatosis, autosomal dominant polycystic kidney disease (ADPKD), acrocallosal syndrome, and Aicardi syndrome. Most intracranial arachnoid cysts are incidentally found and occur in the middle cranial fossa, with the remaining occurring in the cerebellopontine angle, suprasellar cistern, quadrigeminal cistern, convexity, and posterior fossa/cisterna magna. The current article outlines the natural history, prevalence, demographic factors, and treatment decisions in managing patients with intracranial arachnoid cysts.
Topics: Humans; Male; Arachnoid Cysts; Cisterna Magna; Head; Schizencephaly; Female
PubMed: 37466684
DOI: 10.1007/s00381-023-06066-0 -
Brain : a Journal of Neurology Aug 2023In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later...
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated with torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with AMC5-TOR1A have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with foetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71%, with higher mortality in males. Death occurred at a median age of 1.2 months (1 week-9 years), due to respiratory failure, cardiac arrest or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a hypoplastic corpus callosum (72%), foci of signal abnormality in the subcortical and periventricular white matter (55%), diffuse white matter volume loss (45%), mega cisterna magna (36%) and arachnoid cysts (27%). The molecular spectrum included 22 distinct variants, defining a mutational hotspot in the C-terminal domain of the Torsin-1A protein. Genotype-phenotype analysis revealed an association of missense variants in the 3-helix bundle domain to an attenuated phenotype, while missense variants near the Walker A/B motif as well as biallelic truncating variants were linked to early death. In summary, this systematic cross-sectional analysis of a large cohort of individuals with biallelic TOR1A variants across a wide age-range delineates the clinical and genetic spectrum of TOR1A-related autosomal-recessive disease and highlights potential predictors for disease severity and survival.
Topics: Male; Humans; Cross-Sectional Studies; Mutation; Phenotype; Dystonia; Dystonic Disorders; Nervous System Malformations; Molecular Chaperones
PubMed: 36757831
DOI: 10.1093/brain/awad039 -
Child's Nervous System : ChNS :... Oct 2023Endoscopy was first employed in the surgical treatment of neurosurgical diseases early in the twentieth century, but did not become an established practice for a long... (Review)
Review
INTRODUCTION
Endoscopy was first employed in the surgical treatment of neurosurgical diseases early in the twentieth century, but did not become an established practice for a long time, mainly because of poor technology and clinical results. After a slow re-appearance in the 1980s, the 1990s saw an explosion of techniques and instrumentation. Continuing technological improvement has led to further expansion of surgical techniques and indications for use of neuroendoscopy.
DISCUSSION
The expansion of ventricular endoscopy has led to significant understanding of CSF disorders. Aqueduct stenosis as cause of hydrocephalus and arachnoid cysts are an example of pathologies, the concept and understanding of which now is considerably enhanced, due to the application of neuroendoscopy in their treatment. Management of loculated hydrocephalus has been facilitated considerably with the use of the endoscope. The concepts of aqueductoplasty, septostomy, and foraminoplasty of the foramina of Monro and Magendie emerged, which were previously unknown. Skull base surgery, especially surgery for craniopharyngioma, has seen dramatic improvement in results with the use of the endoscope. Coupling of the endoscope with neuronavigation has expanded technical capabilities even further. Overall, we can do a lot more with the endoscope now in comparison to 30 years ago.
CONCLUSION
We should always remember that the endoscope is only a tool. Its use has indications and limitations related to its design and our ability to extract the maximum, in the context of its shortcomings. Further technological advances will push surgical frontiers even more in years to come.
Topics: Humans; Neuroendoscopy; Neuroendoscopes; Endoscopes; Neurosurgical Procedures; Hydrocephalus
PubMed: 37542700
DOI: 10.1007/s00381-023-06090-0 -
Journal of Neurosciences in Rural... 2024
PubMed: 38746515
DOI: 10.25259/JNRP_554_2023 -
The Spine Journal : Official Journal of... Aug 2023Secondary spinal arachnoid cysts have rarely been reported but present significant challenges for management. These cysts could be anteriorly located with long... (Review)
Review
BACKGROUND CONTEXT
Secondary spinal arachnoid cysts have rarely been reported but present significant challenges for management. These cysts could be anteriorly located with long rostral-caudal extensions and many are related to arachnoiditis, leading to difficult-to-treat disorders. Thus far, due to the scarcity of reports, the features of the disease and the optimal therapeutic strategies remain unclear.
PURPOSE
To investigate clinical features and the optimal treatment modalities of secondary spinal arachnoid cysts compared with primary spinal arachnoid cysts.
STUDY DESIGN
Systematic review.
PATIENT SAMPLE
Systematic review identified 103 secondary cases from 80 studies and reports.
OUTCOME MEASURES
Condition of symptom relief and duration of treatment response were analyzed.
METHODS
An electronic literature search of the PubMed database was conducted for studies on secondary spinal arachnoid cysts between 1990 and 2022. Non-English publications, nonhuman studies, reports of a primary cyst, studies not including case details, and studies of nonsymptomatic cases were excluded.
RESULTS
This systematic review included 103 secondary cases. The most commonly reported etiologies were iatrogenic factors, trauma, and subarachnoid hemorrhage, accounting for 88 intradural extramedullary, 11 extradural, one intradural/extradural, one interdural, and one intramedullary spinal arachnoid cyst after a median duration of 30, 12, and 9 months, respectively. Extradural cysts were more prone to occur at dorsal locations and affect thoracic segments (mean cyst length: 3.4 segments). Intradural cysts showed a relatively higher ventral/dorsal ratio (1:1.09, 1.75:1, and 3.50:1 for cysts occurring from iatrogenic factors, trauma, and subarachnoid hemorrhage, respectively) and thoracic distribution, with a mean cyst length of 4.3 segments (5.1 for ventral and 3.5 for dorsal cysts). For intradural cysts, recurrence risk was lower after surgical resection than after fenestration/marsupialization (12-month recurrence risk: 21.43% vs 50.72%, log-rank test: p=.0248, Gehan-Breslow-Wilcoxon test: p=.0126). In cases treated with shunting, one recurrence (1/8 cases) was noted after external shunting and two recurrences (2/5 cases) after internal shunting at a median follow up of 12 months.
CONCLUSIONS
Secondary spinal arachnoid cysts, particularly intradural cysts, are rarer and more challenging to treat than primary spinal cysts. Although fenestration/marsupialization is the commonly adopted treatment, the recurrence rate is high. For unresectable cysts, shunting procedures, particularly shunting into a body cavity (eg, pleural or peritoneal cavity) away from the subarachnoid space, could be a therapeutic alternative besides fenestration/marupialization, yet its efficacy requires confirmation by more data.
Topics: Humans; Arachnoid Cysts; Subarachnoid Hemorrhage; Spinal Cord Diseases; Neurosurgical Procedures; Iatrogenic Disease; Magnetic Resonance Imaging
PubMed: 36924909
DOI: 10.1016/j.spinee.2023.03.002