Endoscopic third ventriculostomy in hydrocephalus associated with achondroplasia

Swift, Dale M.; Nagy, László; Robertson, Brian

doi:10.3171/2011.10.peds1169

Cited by 25 publications

(12 citation statements)

References 40 publications

(79 reference statements)

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“…18,41,43,48,55,61 Interestingly, with advances in MRI and reports of venous anatomy in these cases, the severity of hydrocephalus has been found to correlate with the degree of jugular foraminal stenosis and collateral venous drainage patterns, 22,41,47 with those demonstrating collaterals through the condyloid emissary veins having a lower likelihood of experiencing progressive hydrocephalus. 38,58 In this patient population, we have noticed intracranial anatomy that is similar to several of the aforementioned cases of osteopetrosis. 38,58 In this patient population, we have noticed intracranial anatomy that is similar to several of the aforementioned cases of osteopetrosis.…”

Section: Correlative Experiencessupporting

confidence: 63%

“…2,6,20,63 Specifically, there are frequent findings of jugular foraminal stenosis, the fourth ventricle appears small, the posterior fossa appears "crowded," and a triventricular pattern of ventricular dilation is encountered. 16,30,58 Our experience has been similar in regard to the ventricular pattern and physiology mentioned earlier in select cases of craniosynostosis. 16,30,58 Our experience has been similar in regard to the ventricular pattern and physiology mentioned earlier in select cases of craniosynostosis.…”

Section: Correlative Experiencessupporting

confidence: 61%

“…52,58 The association between craniosynostosis and CTH has been well recognized, 8,17,34,50 and most believe that these hindbrain malformations are an acquired defect occurring sometime during the postnatal period as a result of premature fusion of the cranial sutures. 52,58 The association between craniosynostosis and CTH has been well recognized, 8,17,34,50 and most believe that these hindbrain malformations are an acquired defect occurring sometime during the postnatal period as a result of premature fusion of the cranial sutures.…”

Section: Correlative Experiencesmentioning

confidence: 99%

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A unifying theory for the multifactorial origin of cerebellar tonsillar herniation and hydrocephalus in osteopetrosis

Scott¹,

Weprin²,

Swift³

2014

PED

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Object Osteopetrosis is a rare congenital metabolic bone disease. There are very few reports in the literature associating cerebellar tonsillar herniation (CTH) and hydrocephalus requiring neurosurgical attention. The authors present cases of osteopetrosis requiring neurosurgical intervention from their practice and offer a detailed account of the literature. Methods A retrospective review was conducted at the authors' institution, and all children with osteopetrosis requiring neurosurgical attention were identified. Medical charts and radiographic studies were reviewed. Data including age at presentation, sex, symptoms at presentation, age at follow-up, the presence of any neurological comorbidities, and surgical procedures performed were recorded. Results Four patients were identified as having osteopetrosis requiring neurosurgical attention at the authors' institution between January 1, 2005, and January 1, 2014. There were 3 females and 1 male with an average age at presentation of 11.1 years; patients were observed for a mean of 4.4 years. All of the patients were identified as harboring jugular foraminal stenosis and CTH. Seventy-five percent of these patients developed hydrocephalus, and in those cases a triventricular pattern of dilation was noted. One patient developed syringomyelia. Three of the 4 patients underwent neurosurgical procedures. Cerebrospinal fluid diversion was performed in 2 patients via a ventriculoperitoneal shunt in one case and an endoscopic third ventriculostomy (ETV) in the other. The former patient required a proximal revision at 2 years for bony overgrowth at the site of the bur hole. Two patients underwent a suboccipital decompression. In patients undergoing CSF diversion, there was improvement in ventricle size. Conclusions Variable degrees of hindbrain crowding and/or CTH are mentioned throughout the literature, suggesting that this entity is nearly always present in this patient population. The progressive triventricular hydrocephalus seen in these cases results from a complex combination of both communicating and noncommunicating pathology, which may depend on the type of osteopetrosis, age at presentation, and the presence and degree of venous collateralization, and it appears that the hydrocephalus is more prevalent and more likely to be treated in infants and in the younger, school-aged population. The acquired hindbrain fullness in conjunction with the triventricular pattern of hydrocephalus has kept the authors enthusiastic regarding the use of ETV in these complicated cases.

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Section: Correlative Experiencessupporting

confidence: 63%

Section: Correlative Experiencessupporting

confidence: 61%

Section: Correlative Experiencesmentioning

confidence: 99%

See 1 more Smart Citation

A unifying theory for the multifactorial origin of cerebellar tonsillar herniation and hydrocephalus in osteopetrosis

Scott¹,

Weprin²,

Swift³

2014

PED

View full text Add to dashboard Cite

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“…Anecdotally, the experience of this panel has been that children with achondroplasia who have symptomatic hydrocephalus and FMS have shown improvement of the hydrocephalus with foramen magnum decompression, although formal reports contradict this finding [Swift et al, ]. Decompression of the foramen magnum may theoretically allow improved venous drainage of the cranium by relieving the circular sinus around the foramen magnum.…”

Section: Discussionmentioning

confidence: 99%

Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy

White

Bompadre

Goldberg

et al. 2015

American J of Med Genetics Pt A

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Achondroplasia is the most common inherited disorder of bone growth (skeletal dysplasia). Despite this fact, consistent and evidence-based management approaches to recognized, life-threatening complications, such as foramen magnum stenosis, are lacking. This study aims to outline best practice, based on evidence and expert consensus, regarding the diagnosis, assessment, and management of foramen magnum stenosis in achondroplasia during infancy. A panel of 11 multidisciplinary international experts on skeletal dysplasia was invited to participate in a Delphi process. They were: 1) presented with a list of 26 indications and a thorough literature review, 2) given the opportunity to anonymously rate the indications and discuss in face to face discussion; 3) edit the list and rate it in a second round. Those indications with more than 80% agreement were considered as consensual. After two rounds of rating and a face-to-face meeting, consensus was reached to support 22 recommendations for the evaluation and treatment of foramen magnum stenosis in infants with achondroplasia. These recommendations include indications for surgical decompression, ventriculomegaly, and hydrocephalus, sleep-disordered breathing, physical exams and the use of polysomnography and imaging in this condition. We present a consensus-based best practice guidelines consisting of 22 recommendations. It is hoped that these guidelines will lead to more uniform and structured evaluation, standardizing care pathways, and improving mortality and morbidity outcomes for this cohort.

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“…ventriculoperitoneal shunting [3], even in the early childhood [4,5]. Since the indications for ETV are not only permanently increasing, but also constantly adjusting and getting re-tailored [1,2], they nowadays, apart from cerebral aqueduct stenosis, includes many clinical conditions with underlying disturbance of cerebrospinal fluid (CSF) hydrodynamics, such as in patients with posterior fossa tumors and cysts [6], communicating hydrocephalus [7], normal pressure hydrocephalus [8], and in patients with previous ventriculoperitoneal shunts failure [9], but lately also in the hydrocephalic patients with achondroplasia [10].…”

Section: Introductionmentioning

confidence: 99%

Dynamic Magnetic Resonance Imaging of Endoscopic Third Ventriculostomy Patency With Differently Acquired Fast Imaging With Steady-State Precission Sequences

et al. 2014

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The aim of the study was to determine the possibilities of two differently acquired two-dimensional fast imaging with steady-state precession (FISP 2D) magnetic resonance sequences in estimation of the third ventricle floor fenestration patency after endoscopic third ventriculostomy (ETV) in the subjects with aqueductal stenosis/obstruction.Fifty eight subjects (37 males, 21 females, mean age 27 years) with previously successfully performed ETV underwent brain MRI on 1.5T MR imager 3-6 months after the procedure. Two different FISP 2D sequences (one included in the standard vendor provided software package, and the other, experimentally developed by our team) were performed respectively at two fixed slice positions: midsagittal and perpendicular to the ETV fenestration, and displayed in a closed-loop cinematographic format in order to estimate the patency. The ventricular volume reduction has been observed as well.Cerebrospinal fluid (CSF) flow through the ETV fenestration was observed in midsagittal plane with both FISP 2D sequences in 93.11% subjects, while in 6.89% subjects the dynamic CSF flow MRI was inconclusive. In the perpendicular plane CSF flow through the ETV fenestration was visible only by use of experimentally developed FISP 2D (TR30/FA70) sequence. Postoperative volume reduction of lateral and third ventricle was detected in 67.24% subjects.Though both FISP 2D sequences acquired in midsagittal plane may be used to estimate the effects of performed ETV, due to achieved higher CSF pulsatile flow sensitivity, only the use of FISP 2D (TR30/FA70) sequence enables the estimation of the treatment effect in perpendicular plane in the absence of phase-contrast sequences.

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Endoscopic third ventriculostomy in hydrocephalus associated with achondroplasia

Cited by 25 publications

References 40 publications

A unifying theory for the multifactorial origin of cerebellar tonsillar herniation and hydrocephalus in osteopetrosis

A unifying theory for the multifactorial origin of cerebellar tonsillar herniation and hydrocephalus in osteopetrosis

Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy

Dynamic Magnetic Resonance Imaging of Endoscopic Third Ventriculostomy Patency With Differently Acquired Fast Imaging With Steady-State Precission Sequences

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