Leukoencephalopathy with cerebral calcifications and cysts: the neurosurgical perspective. Literature review.

PURPOSE: Labrune syndrome is a rare white matter disease characterised by angiomatous leukoencephalopathy, diffuse intracranial calcifications and supra- and infra-tentorial parenchymal cysts. The clinical worsening is often related to cyst expansion, and surgery may be advocated for symptomatic management in about one-third of cases. However, no consensus exists on surgical timing, the most effective procedure, and long-term results. MATERIAL AND METHODS: Electronic databases, such as PubMed/ MEDLINE and Google Scholar, were analysed for studies published to April 2022 using the search term "Labrune syndrome OR leukoencephalopathy with calcifications and cysts OR brain calcifications OR brain cysts AND therapy OR surgery RESULTS: We found 28 studies reported in the literature, and we added a new case we treated at our Institution, reaching a series of 37 patients. All the patients in this series underwent surgical intervention. We aimed to review all the pertinent literature to discuss clinical-radiological features and etiopathogenetic insights, addressing the specific issue of the surgical options, clinical results and prognosis. CONCLUSION: LCC is a rare neurodegenerative disorder without effective medical treatment. Surgery remains the only therapeutic option to control the disease to reduce the mass effect of growing cystic lesions. Almost half of the patients who underwent surgery required further approaches, with great concern for the associated disabilities. Several procedures have been described, with no evidence of the most effective. Individual-based surgical planning must be advocated, tailoring the approach to limit side effects. Mini-invasive neuroendoscopic approaches may be considered to achieve those satisfactory results.

Abrupt foramen magnum syndrome due to shunt malfunction in a previously asymptomatic chiari I malformation: the hidden predictable risk in long-lasting shunted patients.

Cerebrospinal fluid overdrainage in long-lasting shunted hydrocephalus is a well recognized complication. It may lead to different clinical syndromes which may occur over time, namely cranioencephalic disproportion and hindbrain herniation. Among the latter, Chiari malformation type 1 classically refers to one of the mildest form. When symptomatic, the patients generally exhibit a chronic, slowly progressive disease course. Although well documented in Chiari type II malformation and hydrocephalus, ventriculo-peritoneal shunt malfunction causing acute neurological deterioration in acquired Chiari malformation type 1 has been described only in three cases. All these patients underwent urgent shunt revision and suboccipital decompression in two of them, achieving good clinical improvement. We report on a 20-year-old woman harboring a previously asymptomatic Chiari malformation type 1, who experienced an acute foramen magnum syndrome with ventriculo-peritoneal shunt malfunction. We performed an endoscopic third-ventriculo-cisternostomy and definite removal of the shunt, obtaining the complete resolution of symptoms and shunt independence at 2 years follow-up. The phisiopathogenetic mechanisms and surgical management are discussed.

Holocordic Spinal Sbdural Hematoma: A Challenging Management In Emergency: Literature Review.

OBJECTIVE: Spinal subdural hematoma (SSH) is a rare entity and the etiology has yet to be elucidated. Holocordic spinal hematomas represent an exception. The management of these patients remains controversial, due to their rarity and their extremely poor prognosis. METHODS: Electronic databases (MEDLINE, Scopus, and PubMed) were analyzed for studies published through April 2021, searching holocordic spinal subdural hematoma. Case reports, case series, and literature reviews were included. RESULTS: We found only 7 cases describing holocordic SSH reported in the literature, and we added the description of 1 case we managed at our institution, reaching a total of 8 cases. We discuss clinical and radiologic features, etiologic hypothesis, treatment strategies, and prognostic factors. CONCLUSIONS: The correct treatment of holocordic hematomas is not yet well standardized. Complete evacuation is not amenable, but surgical evacuation based on magnetic resonance imaging has shown to be the most effective therapeutic option, crucial in terms of prognosis, even if performed with some delay.

Current management of central nervous system metastasis from cholangiocarcinoma: the neurosurgical perspective. Literature review.

Purpose: Central nervous system (CNS) metastasis from cholangiocarcinoma (CCA) are extremely rare and associated prognosis is poor. The involvement of the CNS by metastatic CCA may discourage any further treatment; however, data from the literature are discordant, due to recent reports of exceptionally long follow-up after surgical resection of a brain metastasis.Material and Methods: Electronic databases, such as PubMed/MEDLINE and Google Scholar, were analyzed for studies published up to October 2018 using the search term "cholangiocarcinoma and central nervous system metastasis or brain metastasis".Results: We found a total of 18 studies cited in the literature of the 30 year span analyzed, and we added a new case we treated at our Institution, reaching a series of 32 patients. Among these, 7 patients had leptomeningeal dissemination and 25 presented solid CNS metastasis. We analyzed the treatment options and the outcomes, addressing also histopathological insights on tumoral markers possibly involved in the mechanism of metastases of cholangiocarcinomasConclusions: According to the literature data, the outcome remains poor, particularly for those with leptomeningeal diffusion. Nevertheless, long term follow-up is reported in case of surgical resection of CNS metastasis, when there is a good control of the primary tumor. Actually, the majority of patients are often in advanced state of disease at diagnosis and not suitable for initial resective procedure; in these cases neo adjuvant and adjuvant therapies have provided a slight improvement of the outcome.

Clinical diagnosis-part II: what is attributed to Chiari I.

PURPOSE: Chiari malformation type I is identified as radiological appearance of cerebellar tonsil herniation below the foramen magnum. The wide spectrum of clinical manifestations variably associated sometimes encompasses signs and symptoms whose correlation with the malformation remains debatable. However, a correct clinical framework is relevant in tailoring the strategy of management, and in particular, establishing the appropriate surgical intervention. METHODS: An analysis of relevant articles on this issue was performed, involving both single case reports and case series. The papers were obtained from electronic databases including PubMed/MEDLINE and Google Scholar, as well as direct contact with some authors. RESULTS: This review focuses on those unusual clinical pictures attributed to Chiari malformation type I (CMI), investigating their actual relationship with the morphological condition. Supposed physiopathogenetic mechanisms and clinical relevance are discussed along with an analysis on the surgical indications and results. CONCLUSION: There is no clear explanation on why some patients may exhibit uncommon symptoms, often in association with the most frequent ones, but even reported as single initial clinical occurrence. Their actual incidence may have been roughly underestimated in the literature so far, because of wide heterogeneity of selection and analysis among different studies. Most of the authors appear sharing the impression that CMI surgical decompression plays a significant role in controlling the majority of these unusual symptoms, stressing their actual occurrence in relation with the malformation. A routinely multidisciplinary clinical approach has become advisable to encompass the diversity of conditions potentially associated with CMI and improve the care of CMI patients.

Chylous fistula: management of a rare complication following right anterior cervical spine approach.

PURPOSE: Chylorrhea resulting from injury of the lymphatic system during neck dissection is a well-known complication. It is an uncommon occurrence in spinal surgery, and only one case after right anterior cervical spine surgery has been described so far. Despite its rarity, chylous leakage deserves a particular attention since it may become a serious and occasionally fatal complication if not detected early and managed appropriately. METHODS: We report the case of a 42-year-old man who underwent a standard anterior cervical discectomy and fusion according to Cloward approach for a C6-C7 disk herniation. The patient developed a delayed prevertebral chyle collection on postoperative day 5, presenting with mild breathing and swallowing difficulties. RESULTS: He was managed with conservative care, including bed rest, low-fat diet and drainage pouch positioning, which led to the complete resolution of the fluid collection. CONCLUSIONS: Knowledge of the normal anatomy of the lymphatic system and of its variations is essential when planning an anterior spinal procedure, and represents the first measure to be adopted in order to avoid such complication. The prompt identification of a postoperative chylous fistula and the applicability of an individually based management's protocol may help in the majority of the cases to reduce the potential morbidity, without significant long-term effects.

Supratentorial Embryonal Tumors in the Elderly: Diagnostic Pitfalls and Clinical Prognosis.

Supratentorial embryonal tumors are very rare malignant tumors of neuroectodermal origin, characterized by an aggressive clinical behavior. They occur prevalently in children. They have been sporadically described in adults and represent an even rarer occurrence in elderly patients, raising many issues on the diagnostic pitfalls and their appropriate management. We present an unusual case of embryonal tumor in a 62-year-old man who presented with speech disorder, and partial deficit of the left 3rd and 5th cranial nerves secondary to a left temporo-insular embryonal tumor: the clinico-radiological features, histopathological insights, therapeutic options and results are discussed along with a review of the most relevant literature, addressing the specific issue of differential diagnosis and the expected results in the elderly population.

Repeat Bleeding 18 Years After Hemorrhagic Pilocytic Astrocytoma: Prognostic Implications of Conservative Management-Case Report and Literature Review.

BACKGROUND: Acute hemorrhagic occurrence of pilocytic astrocytomas is extremely rare but has become increasingly recognized and often presents in clinically emergent situations. The precise significance of hemorrhage in these tumors and its pathogenetic mechanisms have not yet been defined. Nothing is known about the natural history of bleeding pilocytic astrocytomas. CASE DESCRIPTION: A 21-year-old man presented with acute biventricular hydrocephalus for repeat bleeding of a midbrain lesion that had been diagnosed 18 years earlier after a similar acute hemorrhagic episode. The patient had been initially treated conservatively, considering the high risk of surgery. He underwent urgent biventricular external shunt surgery and, subsequently, total removal of the lesion. Histopathological analysis revealed pilocytic astrocytoma. Including the present case, 59 cases were analyzed and reviewed, including 5 cases with a pilomyxoid variant. Different pathogenetic mechanisms have been proposed, including histological characteristics, rupture of the bridging veins torn by the neoplastic mass, and vascular instability determined by overexpression of vascular endothelial growth factor. CONCLUSIONS: To the best of our knowledge, the presented case is completely unique owing to the long-term observational follow-up data available. The hemorrhagic potential did not decrease over time, representing a specific feature of this tumor. The occurrence of bleeding might not reflect either malignancy or aggressiveness. However, the worse prognosis is related to the clinical behavior, with life-threatening complications often associated. Surgery remains the standard treatment and will influence the final prognosis.

Hypertrophic Pachymeningitis and Hydrocephalus-The Role of Neuroendoscopy: Case Report and Review of the Literature.

BACKGROUND: Hypertrophic pachymeningitis (HP) is a rare primary or secondary inflammatory disorder that manifests with thickening of dura mater involving predominantly the tentorium and falx in the focal form. Hydrocephalus has not been reported in association with secondary HP. CASE DESCRIPTION: A 61-year-old woman presented with intracranial HP of the posterior fossa secondary to Wegener granulomatosis not responsive to corticosteroid therapy. Owing to the association of noncommunicating hydrocephalus, endoscopic third ventriculostomy was performed. There was immediate improvement of neurologic symptoms and no postoperative complications. The patient had very good clinical and radiologic outcome at 1-year follow-up. CONCLUSIONS: In a case of noncommunicating hydrocephalus related to focal HP of the posterior fossa, endoscopic third ventriculostomy was effective in resolving symptoms related to increased intracranial pressure. The physiopathogenetic mechanisms and therapeutic strategies were discussed along with a review of the most relevant literature.

Brain Granuloma: Rare Complication of a Retained Catheter.

BACKGROUND: Ventriculoperitoneal (VP) shunt is the most frequent treatment for hydrocephalus. VP shunt malfunction is a very common problem in neurosurgical practice, often requiring shunt revision procedures. In some cases, complete removal of a VP shunt may present difficulties, leading the surgeon to leave the ventricular catheter in situ. This decision is often made to avoid possible adverse events, primarily risk of life-threatening hemorrhage. However, a nonfunctioning catheter left in the ventricular system may lead to further complications. CASE DESCRIPTION: We report the case of an adult man who presented with a tumor-like cystic lesion, with mural and nodular postcontrast enhancement, caused by a huge granuloma formed around the tip of a retained ventricular catheter. CONCLUSIONS: This occurrence is extremely rare, and this is the first reported case in the literature. Preoperative differential diagnosis was challenging and included infection, metastasis, dysembryogenetic lesions, and rare reversible porencephalic cysts. According to several physiopathogenetic theories recently reported in the literature, the granuloma may develop as the result of persistent chronic inflammatory reactions between the ventricular catheter left in situ and the brain parenchyma. Application of neuroendoscopic techniques is improving management of VP shunt revisions, allowing safe removal of catheters stuck or lost in the ventricular system. Neuroendoscopy may represent an additional option to avoid possible complications related to retained ventricular catheters.

Paraganglioma of the cauda equina region.

BACKGROUND CONTEXT: Cauda equina paragangliomas (CEPs) are rare neuroendocrine tumors. The difficulty in differential diagnosis with other tumors of this region may be misleading for surgical planning and prognostic expectations. PURPOSE: To report on a rare case of CEP and review the most current information regarding the diagnosis, treatment options, and outcomes. STUDY DESIGN: Case report and literature review. PATIENT SAMPLE: One patient affected by CEP. METHODS: We report on a 33-year-old woman with a 2-month history of worsening low back pain, aggravated by sitting, bending, and coughing. Neurological examination revealed normal power and muscular tone, no sensory or sphincter abnormality, and normal reflex. Magnetic resonance imaging of the lumbar spine demonstrated an intradural extramedullary lesion at L3, with homogeneous contrast enhancement and hypointense punctate foci. The patient underwent an L3 laminectomy and tumor removal. Relevant articles covering CEPs from 1970 to the present were reviewed. RESULTS: The histopathological examinations described paraganglioma features. The postoperative course was uneventful, and all the symptoms resolved, with no tumor recurrence after 3 years' follow-up. CONCLUSIONS: Cauda equina paragangliomas are rare, benign, and slow-growing tumors. Except for its secreting tumor characteristics, preoperative CEP diagnosis is very difficult. Magnetic resonance imaging is important and may suggest specific radiological features for these tumors; however, these are only relative, and it is rare that diagnosis is made before surgery. Diagnosis is established by histological examination and electron microscopy, and immunohistochemical techniques must be used to achieve a correct diagnosis. Cauda equina paragangliomas are well-encapsulated tumors that may be cured by surgery alone, whereas radiotherapy is reserved for incompletely resected tumors. Overall, prolonged postoperative observation is mandatory because of the slow tumor evolution and the possibility of tumor relapse even up to 30 years after surgery.

Spinal intramedullary arachnoid cyst: case report and literature review.

BACKGROUND CONTEXT: Intramedullary arachnoid cysts are extremely rare; only 14 cases have been reported in the literature so far. PURPOSE: We report on the case of a 31-year-old woman who presented with back pain and progressive paraparesis secondary to a dorsal intramedullary arachnoid cyst detected on magnetic resonance imaging (MRI): the surgical planning and clinico-radiological outcome are discussed along with a review of the relevant literature. STUDY DESIGN: Case report and literature review. PATIENT SAMPLE: One patient affected by intramedullary arachnoid cyst. OUTCOME MEASURES: Magnetic resonance imaging and pathological findings from operative specimens were used to confirm the diagnosis. METHODS: A 31-year-old woman presented with a 7-year history of back pain that had worsened 3 months before admission to our department; for this reason, the patient had undergone a spinal MRI revealing the presence of a 1-cm cystic intramedullary lesion at the level T11-T12, with no contrast enhancement. After 2 months, the patient presented with a worsening of clinical symptoms complaining of severe back pain radiating to the lower extremities associated with a progressive paraparesis, urinary incontinence, and abdominal pain. Referred to our department, at the time of admission the patient was bedridden because of the impossibility of maintaining a standing position. The patient underwent a T11-T12 laminectomy with fenestration of the cyst. RESULTS: She experienced an immediate relief of pain symptoms, and by the seventh postoperative day she was able to stand without help and walk a few meters with assistance. By the sixth postoperative month, the patient had significantly improved, having gained the ability to walk alone without assistance with complete resolution of the bladder dysfunctions, with no cyst recurrence after approximately 2 years of follow-up. CONCLUSIONS: Intramedullary arachnoid cysts should be considered in the differential diagnosis for intramedullary cystic lesions. A particular consideration deserves their occurrence in asymptomatic patients, who should be adequately informed on the possible natural evolution: when symptomatic, surgical therapy should be promptly offered, considering that a postoperative complete recovery is usually observed, regardless of the surgical technique.

Lim mineralization protein is involved in the premature calvarial ossification in sporadic craniosynostoses.

Sporadic mono-sutural craniosynostosis represents a highly prevalent regional bone disorder, where a single cranial suture undergoes premature ossification due to a generally unclear etiopathogenesis. The LIM mineralization protein (LMP) was recently described as an efficient osteogenic molecule involved in osteoblast differentiation, expressed in calvarial tissues upon corticosteroid-osteogenic induction and used as a potent inducer of bone formation in several animal models. In this study, calvarial cells isolated from both prematurely fused and physiologically patent sutures of children with sporadic craniosynostosis, were used as an in vitro paradigmatic model for the study of the molecular events involved in calvarial osteogenesis, focusing on the possible role of the LMP-related osteogenic signaling. Calvarial cells isolated from both patent and fused sutures expressed a mesenchymal-like immunophenotype. Cells isolated from fused sutures displayed an increased osteogenic potential, being able to undergo spontaneous mineralization and premature response to osteogenic induction, leading to in vitro bone nodule formation. The expression of LMP and its target genes (bone morphogenetic protein-2, osteocalcin and Runt-related transcription factor 2) was significantly up-regulated in cells derived from the fused sutures. Upon silencing the expression of LMP in fused suture-derived cells, the osteogenic potential along with the expression of osteo-specific transcription factors decreased, restoring the "physiologic" cell behavior. These results suggested that: 1. mesenchymal cells residing in fused sutures display a constitutionally active osteogenic disposition leading to the premature suture ossification; 2. the molecular basis of the overactive osteogenic process may at least in part involve a deregulation of the LMP-related pathway in calvarial cells.

Epilepsy in Tuberous Sclerosis Complex.

Tuberous Sclerosis Complex (TSC) is an autosomal dominant multisystem disorder, characterized by the presence of hamartomatous lesions involving different organ systems, including the brain. Epilepsy is the most common presenting symptom, representing a major source of morbidity and mortality. Despite multiple antiepileptic drug combinations, in about two thirds of cases the patients present high-frequency drug-resistant epilepsy, and nonpharmacologic options may be considered. The aim of this work was to point out the current knowledge on epileptogenesis in TSC, the available medical therapies and diagnostic tools, and possible surgical strategies, with the intent to better understand the actual difficulties in controlling seizures and the results reported in the literature. There is also a section dedicated to the common association with cognitive impairment and the role of epilepsy control on its outcome.

Percutaneous decompression of lumbar spinal stenosis with a new interspinous device.

OBJECTIVE: This study was designed to evaluate the feasibility of the implantation of a new interspinous device (Falena) in patients with lumbar spinal stenosis. The clinical outcomes and imaging results were assessed by orthostatic MR during an up to 6-month follow-up period. METHODS: Between October 2008 and February 2010, the Falena was implanted at a single level in 26 patients (17 men; mean age, 69 (range, 54-82) years) who were affected by degenerative lumbar spinal stenosis. All of the patients were clinically evaluated before the procedure and at 1 and 3 months. Furthermore, 20 patients have completed a 6-month follow-up. Pain was assessed before and after the intervention using the Visual Analogue Scale score and the Oswestry Disability Index questionnaire. Orthostatic MR imaging was performed before the implantation and at 3 months to assess the correlation with the clinical outcome. RESULTS: The mean ODI score decreased from 48.9 before the device implantation to 31.2 at 1 month (p < 0.0001). The mean VAS score decreased from 7.6 before to 3.9 (p < 0.0001) at 1 month and 3.6 at 3 months after the procedure (p = 0.0115). These values were stable at 6 months evaluation. No postimplantation major complications were recorded. MRI evaluation documented in most cases an increased size of the spinal canal area. Similarly a bilateral foraminal area improvement was found. The variation of the intervertebral space height measured on the posterior wall was not significant. CONCLUSIONS: In our preliminary experience with the Falena in a small cohort of patients, we obtained clinical and imaging results aligned to those reported with similar interspinous devices.

Effects of nerve growth factor in experimental model of focal microgyria.

AIM: The effects on neural repair of intraparenchymal nerve growth factor (NGF) administration were evaluated in neonate Wistar rats with experimentally induced focal microgyria. METHODS: A freezing focal polymicrogyric lesion was induced on the frontal cortex in 35 newborn Wistar rats on postnatal day 1. NGF was administered in 15 cases, with 20 pups as controls. Animals were sacrificed at 72 h and 7 days after NGF administration. Real-time PCR was used for the quantification of the expression of TrkA, p75, and doublecortin (DCX) at the level of the cortical lesion in seven different groups of animals: control 72 h (n = 5), control 7 days (n = 5), microgyria 72 h (n = 5), microgyria 7 days (n = 5), microgyria + NGF 72 h (n = 5), microgyria + NGF 7 days (n = 5), and control + NGF (n = 5). RESULTS: A significant increase in TrkA expression was found in the microgyria + NGF 7 days group compared to the others. TrkA upregulation was already visible 72 h after NGF administration. Unlike TrkA, p75 expression increased in animals subjected to the experimental focal microgyria and decreased markedly after NGF administration. DCX expression in injured animals was observed to increase strongly 7 days after NGF administration compared with other groups. CONCLUSIONS: NGF administration interferes with neural repair mechanisms at the polymicrogyric lesion site by means of TrkA and DCX upregulation which possibly counteracts the process of apoptosis caused by the brain injury.

Endoscopic third ventriculostomy for the management of Chiari I and related hydrocephalus: outcome and pathogenetic implications.

BACKGROUND: Hydrocephalus affects 7% to 10% of patients with Chiari I malformation (CIM). It can be successfully treated by endoscopic third ventriculostomy (ETV), possibly improving related CIM and syringomyelia. OBJECTIVE: To confirm the effectiveness of ETV in the management of Chiari-related hydrocephalus and symptoms and to estimate the posterior cranial fossa volume (PCFV) to find the possible reasons for the success or failure of ETV. METHODS: Fifteen patients (11 children and 4 adults) underwent ETV for hydrocephalus associated with CIM (syringomyelia was present in 6 patients). Preoperative PCFV, posterior fossa brain volume (PFBV), and PFBV/PCFV ratio were calculated in the last 12 patients in the series by a magnetic resonance imaging-based computerized method. RESULTS: All patients had symptomatic hydrocephalus (mean third ventricle diameter, 14.1 mm). Mean tonsillar ectopia was 12.7 mm. Postoperatively, hydrocephalus symptoms improved in all cases (mean third ventricle diameter, 8.3 mm); signs and symptoms of CIM and syringomyelia resolved or improved in all patients, although the malformation remained radiologically stable in half of the patients (postoperative mean tonsillar ectopia, 8.8 mm). There were no remarkable differences between cases and controls with regard to PCFV and PFBV. The PFBV/PCFV ratio was comparable in pediatric cases and controls but not among adult patients, suggesting a PCF overcrowding in the controls. CONCLUSION: ETV is an effective treatment for hydrocephalus associated with CIM. It is successful in improving CIM and syringomyelia in patients with no overcrowding (mainly in children) or with reversible overcrowding of the PCF (mainly in adults).

Multidisciplinary treatment of giant invasive prolactinomas in paediatric age: long-term follow-up in two children.

BACKGROUND: Invasive giant prolactinomas are rare tumours, still representing a therapeutic challenge due to their characteristics of invasiveness and variable clinical course. Giant prolactinomas in childhood are extremely rare. Only single case reports have been described in the literature. CASE PRESENTATION: We report on two children who presented a progressive visual deterioration. Magnetic resonance imaging showed extensive intra-suprasellar tumour invading the anterior skull base. The laboratory investigations detected markedly elevated prolactin levels. The patients were firstly started on dopamine agonist therapy with partial reduction in size of the tumours. The debulking of the residual lesions through a transsphenoidal approach was then performed in both patients, one of whom requiring a second surgical procedure for tumour regrowth. The complete shrinkage of the residual adenomas was achieved after the treatment with conventional radiotherapy, with a follow-up of 13 and 14 years, respectively. DISCUSSION: Multidisciplinary therapeutic approach for giant prolactinomas in paediatric patients can be an effective treatment; despite the invasiveness of these tumours, the efficacy of this combined treatment can reach a satisfactory control of the disease at long term, assuring a good quality of life as well.