Neuronavigated foraminoplasty, shunt removal, and endoscopic third ventriculostomy in a 54-year-old patient with third shunt malfunction episode: how I do it.

BACKGROUND: The application of endoscopic third ventriculostomy (ETV) for the treatment of obstructive hydrocephalus in shunt malfunction represents a paradigm shift, as it allows hydrocephalus to be transformed from a chronic condition treated with an artificial device to a curable disease. METHODS: We present a 54-year-old male with a diagnosis of idiopathic Sylvian aqueduct stenosis treated with shunt. The patient presented to our institution with symptoms of shunt malfunction and an increase in ventricular size on imaging, which was his third episode throughout his life. Through a right precoronal approach, with prior informed consent from the patient, we performed foraminoplasty, endoscopic third ventriculostomy, and finally removal of the shunt system. CONCLUSION: ETV shows promise as a viable treatment option for shunt malfunction in noncommunicating obstructive hydrocephalic patients. Its potential to avoid VPS-related complications, preserve physiological CSF circulation, and provide an alternative drainage pathway warrants further investigation.

How should we treat long-standing overt ventriculomegaly in adults (LOVA)? A retrospective cohort study.

Long-standing overt ventriculomegaly in adults (LOVA) is a heterogenous group of conditions with differing presentations. Few studies have evaluated success rates of available surgical treatments, or ascertained the natural history. There is a need to assess the efficacy of both endoscopic third ventriculostomy (ETV) and ventriculoperitoneal shunt (VPS) as first-line treatments. We conducted a retrospective, single-centre study of adults with LOVA at a tertiary neurosurgery centre in England, UK, aiming to identify presentation, management strategy, and outcome following treatment. A total of 127 patients were included (mean age 48.1 years, 61/127 male). Most patients were symptomatic (73.2%, n = 93/127, median symptom duration 10 months). The most common symptoms were gait ataxia, headache, and cognitive decline (52.8%, 50.4%, and 33.9%, respectively). Fourteen patients had papilloedema. Ninety-one patients (71.7%) underwent surgery (84 ETV, 7 VPS). Over a median follow-up of 33.0 months (interquartile range [IQR] 19.0-65.7), 82.4% had a clinical improvement after surgery, and 81.3% had radiological improvement. Clinical improvement rates were similar between ETV and VP shunt groups (82.1% vs 85.7%, p = 0.812). Surgical complication rates were significantly lower in the ETV group than the VP shunt group (4.8% vs 42.9%, p < 0.001). Of the patients treated surgically, 20 (22.0%) underwent further surgery, with 14 patients improving. This study demonstrates the efficacy of ETV as a first-line treatment for LOVA.

Tremor in triventricular hydrocephalus secondary to an aqueductal web with stenosis and response to third ventricular ventriculostomy.

We demonstrate a case report of triventricular hydrocephalus due to an aqueductal web and stenosis which presented itself clinically solely with bilateral hand tremors in an adolescent male. The patient underwent Endoscopic third ventriculostomy (ETV) and the subsequent improvement in cerebrospinal fluid (CSF) flow resulted in complete resolution of his tremor. We propose a mechanism involving compression of the rubrospinal tract (or stretching of the frontal premotor area) and advise cranial imaging in cases of hand tremor to exclude this as a potential cause. Neurosurgical review and potential CSF diversion if triventriclar hydrocephalus is established should be considered as positive clinical outcome can be achieved.

Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.

Wiedemann-Steiner syndrome (WWS) is a rare disorder characterized by hypotonia, postnatal growth restriction, striking facial dysmorphism, and hirsutism. It is caused by heterozygous pathogenic variants in KMT2A. This gene has an established role in histone methylation, which explains the overlap of WWS with syndromes caused by genes involved in chromatin remodeling. We describe an infant with a novel single base pair deletion in KMT2A with features consistent with WWS, as well as additional features of stenosis of aqueduct of Sylvius and broad toes. The usefulness of Face2Gene as a tool for identification of dysmorphology syndromes is discussed, as in this patient, it suggested WWS as the top candidate disorder. To the best of our knowledge, this is the first patient of WWS reported from India, with a novel genotype and expanded phenotype.

ETV in infancy and childhood below 2 years of age for treatment of hydrocephalus.

PURPOSE: Age and etiology play a crucial role in success of endoscopic third ventriculostomy (ETV) as a treatment of obstructive hydrocephalus. Outcome is worse in infants, and controversies still exist whether ETV is superior to shunt placement. We retrospectively analyzed 70 patients below 2 years from 4 different centers treated with ETV and assessed success. METHODS: Children < 2 years who received an ETV within 1994-2018 were included. Patients were classified according to age and etiology; < 3, 4-12, and 13-24 months, etiologically; aqueductal stenosis, post-hemorrhagic-hydrocephalus (PHH), tumor-related, fourth ventricle outflow obstruction, with Chiari-type II and following CSF infection. We investigated statistically the predictors for ETV success through computing Kaplan-Meier estimates using patient's follow-up time and time to ETV failure. RESULTS: We collected 70 patients. ETV success rate was 41.4%. The highest rate was in tumor-related hydrocephalus and fourth ventricle outlet obstruction (62.5%, 60%) and the lowest rate was in Chiari-type II and following infection (16.7%, 0%). The below 3 months age group showed relatively lower success rate (33.3%) in comparison to older groups which showed similar results (46.4%, 46.6%). Statistically, a previous VP shunt was a predictor for failure (p value < 0.05). CONCLUSION: Factors suggesting a high possibility of failure were age < 3 months and etiology such as Chiari-type II or following infection. Altered CSF dynamics in patients with PHH and under-developed arachnoid villi may play a role in ETV failure. We do not recommend ETV as first line in children < 3 months of age or in case of Chiari II or following infection.

[Decompensation of chronic internal hydrocephalus in an adult patient]. / Dekompensatsiya khronicheskoi vnutrennei gidrotsefalii u vzroslogo patsienta. Sluchai iz praktiki i obzor literatury.

We report a rare case of decompensated chronic internal hydrocephalus in an adult patient. A 35-year-old woman experienced acute intracranial hypertension in 3 weeks after relief of postoperative inflammation in the oral cavity (tooth extraction). MRI revealed severe internal hydrocephalus. Third ventriculostomy was followed by significant clinical improvement. However, postoperative survey and subsequent neuroimaging confirmed no reduction of ventricular system. Thus, decompensation of chronic hydrocephalus following dental intervention and subsequent oral inflammation was assumed. Impaired venous outflow from the brain and destabilization of CSF circulation can be considered as a pathogenetic mechanism.

Phase-contrast and three-dimensional driven equilibrium (3D-DRIVE) sequences in the assessment of paediatric obstructive hydrocephalus.

BACKGROUND: Recently, most cases of hydrocephalus are related to obstruction. Accurate localization of the site of obstruction is crucial in determination of the treatment strategy. PURPOSE: To describe the phase-contrast and 3D-DRIVE findings in cases of obstructive hydrocephalus in paediatric patients and to determine their functional and anatomical correlates. MATERIAL AND METHODS: Brain MRIs of 25 patients (2 months to 11 years) with obstructive hydrocephalus were retrospectively reviewed. Phase-contrast and 3D-DRIVE were performed to assess cerebrospinal (CSF) pathways through the aqueduct of Sylvius and subarachnoid spaces. In addition to flow velocity measurement at the aqueduct of Sylvius, functional and anatomical correlation was analysed at the level of aqueduct of Sylvius, infracerebellar CSF space and at the third ventriculostomy using Spearman's rank test. RESULTS: Aqueduct of Sylvius was the most common site of obstruction (19 patients) either secondary to focal, multifocal or tubular stenosis, adhesions, or secondary to extrinsic compression. Functional and anatomical correlation was analysed in 58 regions revealing strong correlation (ro = 0.8, p < .001). Functional anatomical mismatch was found in nine regions. Flow velocity measurements revealed diminished flow in most of the cases with obstruction at the aqueduct and normal velocity in cases with obstruction proximal to aqueductal level, while accelerated flow was seen in cases with infra-aqeuductal obstruction. CONCLUSION: Phase-contrast and 3D-DRIVE sequences are essential sequences in the diagnosis of hydrocephalus enabling perfect localization of the site of obstruction. Both sequences should be interpreted in conjunction to avoid false results. Velocity measurements through the aqueduct can help understand CSF hydrodynamics.

Moyamoya Syndrome Associated with Late-onset Idiopathic Aqueduct Stenosis Successfully Treated with Endoscopic Third Ventriculostomy.

Moyamoya disease (MMD) is a rare idiopathic cerebrovascular disorder that causes transient ischemic attack (TIA) and ischemic stroke in the pediatric population. Herein, we report an extremely rare case of Moyamoya syndrome (MMS) and late-onset idiopathic aqueduct stenosis, a unique form of non-communicating hydrocephalus. A 17-year-old female presented with an intractable headache and occasional faintness. Pertinent medical history included a fourth ventricle epidermoid cyst without any evidence of aqueduct stenosis, which was surgically removed when she was two years of age. The patient subsequently experienced a TIA and was diagnosed with MMD at 14 years of age. Under the definitive diagnosis of MMS associated with a brain tumor, the patient underwent surgical revascularization of the symptomatic right hemisphere without complications. Although the ischemic symptoms resolved postoperatively, a medically intractable headache with occasional faintness persisted. Serial magnetic resonance imaging ultimately revealed newly developed non-communicating hydrocephalus due to acquired aqueduct stenosis at the age of 17. After careful exclusion of the development of either or both a periventricular anastomosis and vault moyamoya vessels along the surgical route using cerebral angiography, we performed an endoscopic third ventriculostomy (ETV) via the right anterior horn without complications. A complete resolution of her chronic headache with the shrinkage of the third ventriculomegaly was observed postoperatively. In cases of MMS associated with symptomatic aqueduct stenosis, transdural collaterals on the cranial vault and periventricular collaterals should be meticulously evaluated preoperatively using cerebral angiography to safely perform an ETV.

First reports of fetal SMARCC1 related hydrocephalus.

The SMARCC1 gene has been involved in congenital ventriculomegaly with aqueduct stenosis but only a few patients have been reported so far, with no antenatal cases, and it is currently not annotated as a morbid gene in OMIM nor in the Human Phenotype Ontology. Most of the reported variants are loss of function (LoF) and are often inherited from unaffected parents. SMARCC1 encodes a subunit of the mSWI/SNF complex and affects the chromatin structure and expression of several genes. Here, we report the two first antenatal cases of SMARCC1 LoF variants detected by Whole Genome Sequencing (WGS). Ventriculomegaly is the common feature in those fetuses. Both identified variants are inherited from a healthy parent, which supports the reported incomplete penetrance of this gene. This makes the identification of this condition in WGS as well as the genetic counseling challenging.

Tectal Plate Gliomas Masquerading as Idiopathic Aqueduct Stenosis.

Aqueduct stenosis is a recognized cause of obstructive hydrocephalus in children and can be treated effectively with endoscopic third ventriculostomy. Preoperative magnetic resonance imaging is often diagnostic of the cause of aqueduct stenosis. We describe 2 pediatric cases with obstructive hydrocephalus secondary to a working diagnosis of idiopathic aqueduct stenosis. Following successful endoscopic third ventriculostomy, repeat magnetic resonance brain imaging revealed tectal plate glioma as the primary cause of obstruction. We believe these 2 reported cases demonstrate a previously unreported phenomenon whereby concealed tectal gliomas presenting with hydrocephalus are only unmasked following relief of hydrocephalus and decompression and normalization of the ventricular system. We aim to raise awareness about this unusual phenomenon and recommend routine postoperative interval imaging following endoscopic third ventriculostomy to avoid missing underlying pathology masquerading as aqueduct stenosis.

Novel prenatally diagnosed compound heterozygous POMT2 variants in fetal congenital primary aqueduct stenosis.

OBJECTIVE: To study the etiology of congenital hydrocephalus in genetic aqueduct stenosis. CASE REPORT: We report the case of a 31-year-old pregnant female, G2P0A1, with a history of hyperthyroidism under medical control. The patient received regular prenatal care, with no specific findings in the Level II ultrasound at 21 weeks of gestation. However, hydrocephalus was noted at GA 31 weeks. High-resolution sonography and fetal magnetic resonance imaging (MRI) reported fetal aqueduct stenosis. Maternal HSV, CMV, and toxoplasma infection were not detected. Fetal karyotype and chromosomal microarray analysis (CMA) indicated a normal. After intensive counseling, the parents decided to terminate the pregnancy due to the poor fetal prognosis. Post-mortem, a whole-exome sequencing (WES) and Sanger sequencing analysis trio study identified two compound heterozygous variants in the POMT2 gene inherited from both recessive parents. In the subsequent pregnancy, a WES survey revealed inheritance of only the maternal POMT2 gene variant; a live, healthy male baby was born. CONCLUSION: Extended WES represents a precision maternal medicine tool for novel prenatal diagnosis of congenital aqueduct stenosis.

Assessment of neurological symptoms in adult hydrocephalus occlusus. A pilot study.

BACKGROUND: Comprehensively describe and compare (pre/postoperatively) the clinical symptomatology in adult non-communicated hydrocephalus. Associated hydrocephalus signs were analyzed with the idiopathic Normal Pressure Hydrocephalus Scale (iNPH Scale). A standardized clinical scale for non-communicated hydrocephalus is currently not in use. METHODS: Ten patients with hydrocephalus occlusus (HO) were analyzed. Hydrocephalus signs were examined with the iNPH Scale in gait, neuropsychology, continence, and balance before and three months after treatment with shunt operation or third endoscopic ventriculostomy. RESULTS: Patients significantly improved in iNPH total score (25.8%) and gait score (35.4%) three months after neurosurgical intervention. Domain scores in neuropsychology, continence, and balance reached statistical trends (p ≤ 0.066). Most clinical symptoms and signs at baseline improved after surgery (dizziness, lapse of concentration, gait instability, and headache). CONCLUSION: Patients with non-communicated HO also showed classical hydrocephalus symptoms as communicated in iNPH patients. The iNPH Scale allows a structured neurological assessment over the disease's progress and surgical intervention. Further studies with a larger patient samples are necessary to support our results.

Severe Obstructive Sleep Apnoea Leading to Raised Intracranial Pressure Hydrocephalus in a Patient with Aqueduct Stenosis.

We present the case of a patient with severe obstructive sleep apnoea (OSA) and hypoventilation syndrome who had hydrocephalus and acquired aqueduct stenosis. A link between these conditions in our patient is postulated. We discuss the mechanisms through which this might have occurred and the potential problems which might arise in applying non-invasive ventilation to a patient with hydrocephalus. LEARNING POINTS: Patients with severe obstructive sleep apnoea (OSA) and hypoventilation require AVAPS-AE ventilation to deal with obstructive and central events which may occur.Arterial blood gas analysis and MRI of the brain are indicated in the assessment of patients with severe OSA.Hydrocephalus may develop in patients with severe OSA if there is a structural brain abnormality but may resolve with OSA treatment.

A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management.

OBJECTIVES: Aqueduct stenosis (AS) and fourth ventricle outflow obstruction are rare associations of neurofibromatosis type 1 (NF1), resulting in ventriculomegaly and hydrocephalus requiring surgical treatment. This study aims to identify the prevalence of AS and its patterns of clinical presentation, aetiology and treatment in the paediatric complex NF1 population. PATIENTS AND METHODS: Patients with NF-1 aged 0-18 years were recruited from the Regional Genetic Family Register, following institutional review board approval. Magnetic resonance imaging data and clinical documents were reviewed with respect to clinical presentation, degree of ventriculomegaly, aetiological factors and management of AS and fourth ventricle outflow obstruction. RESULTS: 24 of the 233 paediatric patients seen within the NHS highly specialised service for complex NF1 were found to have AS or and fourth ventricle outflow obstruction. This included 13 males and 11 females with a mean age of 9 years 5 months (range 8 months - 17 years). The majority of patients with AS or fourth ventricle outflow obstruction presented with symptoms of raised intracranial pressure associated with ventriculomegaly and/or hydrocephalus (n = 18). However, in 25 % of patients, AS was an incidental finding on MRI and was observed both in the presence (n = 2) and absence (n = 4) of ventriculomegaly. In the majority of cases a single cause of AS was identified (n = 16), of which tectal plate thickening (n = 7) was most frequently observed. The remaining 8 patients had multiple causes of AS, in which tectal plate thickening (n = 7) and aqueductal webs (n = 5) were the most common observations. Surgery was performed on all patients with evidence of raised pressure (n = 8) by performing endoscopic third ventriculostomy (ETV) (n = 5) or ventriculoperitoneal (VP)-shunting (n = 3). Tectal plate thickening was most frequently observed in patients who underwent ETV (n = 3), followed by aqueductal web (n = 1) and T2-signal changes in the tectal plate (n = 1). Patients treated with VP-shunt had 4th ventricle outflow obstruction (n = 2) and a tectal plate tumour (n = 1). CONCLUSION: This study identifies that AS is more prevalent amongst the paediatric complex NF-1 population than previously reported, occurring in 10 % of cases. Our findings demonstrate that AS is most commonly symptomatic in presentation but can be asymptomatic in 25 % of paediatric complex NF1 patients. In this population, AS can occur both in the presence and absence of ventriculomegaly and therefore requires careful monitoring for development of hydrocephalus. In this study, over one third of patients (9 of 24 patients) with AS eventually required treatment.

Brain gliomas, hydrocephalus and idiopathic aqueduct stenosis in children with neurofibromatosis type 1.

PURPOSE: To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases caused by idiopathic aqueduct stenosis. SUBJECTS AND METHODS: We analysed data from 285 NF1 children followed up on our department from 1990 to 2010 by the same examination battery. RESULTS: We have found OPGs in 77/285 (27%) children and GOOPs in 29/285 (10,2%) of NF1 children, of who 19 had OPG and GOOP together, so the total number of brain glioma was 87/285 (30,5%). GOOPs were significantly more often treated than OPGs (p > 0.01). OPGs contain clinically important subgroup of 14/285 (4.9%) spreading to hypothalamus. Spontaneous regression was documented in 4/285 (1.4%) gliomas and the same number of NF1 children died due to gliomas. Obstructive hydrocephalus was found in 22/285 (7.7%) patients and 14/22 cases were due to glioma. Idiopathic aqueduct stenosis caused hydrocephalus in 6/22 cases and was found in 2.1% of NF1 children. Two had other cause. CONCLUSIONS: The total brain glioma number (OPGs and only GOOPs together) better reflected the overall brain tumour risk for NF1 children. However, GOOPs occur less frequently than OPGs, they are more clinically relevant. The obstructive hydrocephalus was severe and featuring frequent complication, especially those with GOOP. Idiopathic aqueduct stenosis shows an unpredictable cause of hydrocephalus in comparison with glioma and is another reason for careful neurologic follow up.

Atlantoaxial Subluxation Secondary to Unstable Os Odontoideum in a Patient With Arrested Hydrocephalus Due to Congenital Aqueductal Stenosis: A Case Report.

BACKGROUND: In a small percentage of children born with congenital hydrocephalus, enlargement of the head and the presence of ventriculomegaly may halt and ultimately stabilize the condition designated as arrested hydrocephalus. Arrested hydrocephalus in children is typically due to congenital aqueduct stenosis, which can be described appropriately as a stasis existing within the channel between the third and fourth ventricles. Os odontoideum (OO) is an uncommonly occurring pathology at the craniovertebral junction. Although the clinical and radiologic features of its existence and the therapeutic options for its pathology have been widely discussed within the medical literature, its true etiology has been a source of divisive debate, proposing both a traumatic as well as a congenital mechanism. The etiology of OO has been heartily debated in the literature for several years as well. Most authors have come to support a posttraumatic causality. However, strong evidence exists to support a congenital origin to this rarely observed malformation. METHODS: Within this case study we present a 24-year-old woman with atlantoaxial subluxation that exists secondary to an orthotropic OO. The patient had a history of arrested hydrocephalus due to congenital aqueductal stenosis beginning in early childhood. She presented with normal intelligence and was neurologically without deficits before the occurrence of an atlantoaxial dislocation. Unfortunately, the pathology was initially misdiagnosed as a decompensation state of the arrested hydrocephalus, and after 8 months the patient became wheelchair bound. Following this unfortunate event the correct diagnosis was ultimately uncovered. Subsequently a C2-1 instrumentation procedure resulted in excellent alignment and fusion. CONCLUSIONS: To the best of our knowledge, this is the first example of an aqueduct stenosis in the setting of an existing OO, a combination that might be another clue in favor of a congenital etiology.

The pathophysiology of chronic noncommunicating hydrocephalus: lessons from continuous intracranial pressure monitoring and ventricular infusion testing.

OBJECTIVE The pathophysiology of chronic noncommunicating hydrocephalus (ncHC) is poorly understood. This present study explored whether lessons about the pathophysiology of this clinical entity might be retrieved from results of overnight monitoring of pulsatile and static intracranial pressure (ICP) and ventricular infusion testing. METHODS The study cohort included adult patients (> 20 years of age) with chronic ncHC due to aqueductal stenosis in whom symptoms had lasted a minimum of 6 months. A reference cohort consisted of age- and sex-matched patients managed for communicating HC (cHC). Information about symptoms and clinical improvement following surgery was retrieved from a quality register, and results of overnight ICP recordings and ventricular infusion testing were retrieved from the hospital ICP database. RESULTS The cohort with ncHC consisted of 61 patients of whom 6 (10%) were managed conservatively, 34 (56%) by endoscopic third ventriculostomy (ETV), and 21 (34%) using ETV and subsequent shunt surgery. In patients responding to surgery, pulsatile ICP (mean ICP wave amplitude) was significantly increased to a similar magnitude in patients with ncHC and the reference cohort (cHC). Furthermore, intracranial compliance (ICC) was reduced in clinical responders. The results of ventricular infusion testing provided evidence that patients responding to ETV have impaired ventricular CSF absorption, while those requiring shunt placement after ETV present with impaired CSF absorption both in the intraventricular and extraventricular compartments. CONCLUSIONS The study may provide some lessons about the pathophysiology of chronic ncHC. First, increased pulsatile ICP and impaired ICC characterize patients with chronic ncHC who respond clinically to CSF diversion surgery, even though static ICP is not increased. Second, in patients responding clinically to ETV, impaired ventricular CSF absorption may be a key factor. Patients requiring shunt placement for clinical response appear to have both intraventricular and extraventricular CSF absorption failure. A subgroup of patients with ncHC due to aqueductal stenosis has normal ventricular CSF absorption and normal ICC and may not be in need of surgical CSF diversion.

Childhood hydrocephalus - is radiological morphology associated with etiology.

BACKGROUND: Clinicians use a non-standardized, intuitive approach when correlating radiological morphology and etiology of hydrocephalus. OBJECTIVE: To investigate the possibility of categorizing hydrocephalus in different groups based on radiological morphology, to analyze if these proposed groups relate to the location and type of underlying pathology, and if this can be of use in clinical practice. METHODS AND MATERIAL: A retrospective cohort study including 110 hydrocephalus patients below age seven seen at Rigshospitalet University Hospital, Denmark. Their neuro-imaging was analyzed and categorized based on radiological morphology. Patient charts were reviewed and possible association between the underlying cause of hydrocephalus and the proposed groups of radiological morphology was evaluated. RESULTS: Radiological appearance varied distinctively between patients. A classification system was created based on the morphology of the lateral ventricles from axial sections at the level of maximal ventricular width. No statistically significant association was found between the suggested groups of morphology and the location and type of pathology. CONCLUSION: Distinguishable patterns of radiological morphology exist. The proposed classification system cannot in its current form indicate type and location of the underlying cause of hydrocephalus. A clear need exists for a standardized approach when evaluating etiology and treatment options based on radiological results.