Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling
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Abstract:
We report on two abortuses with hydrocephalus due to congenital stenosis of the aqueduct of Silvius. The occurrence of this disorder in two siblings (a male and a female) with normal parents supports the autosomal recessive pattern of inheritance. Such a mechanism of inheritance should be taken into account when counselling families with congenital hydrocephaly due to aqueduct stenosis.Keywords:
Aqueduct
Cerebral aqueduct
Inheritance
Autosomal recessive inheritance
Aqueductal stenosis
Object The purpose of this prospective study was to evaluate aqueductal cerebrospinal fluid (CSF) flow after endoscopic aqueductoplasty. In all patients, preoperative magnetic resonance (MR) imaging revealed hydrocephalus caused by aqueductal stenosis and lack of aqueductal CSF flow. Methods In 14 healthy volunteers and in eight patients with aqueductal stenosis who had undergone endoscopic aqueductoplasty, aqueductal CSF flow was investigated using cine cardiac-gated phase-contrast MR imaging. For qualitative evaluation of CSF flow, the authors used an in-plane phase-contrast sequence in the midsagittal plane. The MR images were displayed in a closed-loop cine format. Quantitative through-plane measurements were performed in the axial plane perpendicular to the aqueduct. Evaluation revealed no significant difference in aqueductal CSF flow between healthy volunteers and patients with regard to temporal parameters, CSF peak and mean velocities, mean flow, and stroke volume. All restored aqueducts have remained patent 7 to 31 months after surgery. Conclusions Aqueductal CSF flow after endoscopic aqueductoplasty is similar to aqueductal CSF flow in healthy volunteers. The data indicate that endoscopic aqueductoplasty seems to restore physiological aqueductal CSF flow.
Aqueductal stenosis
Cerebral aqueduct
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The purpose of this prospective study was to evaluate aqueductal cerebrospinal fluid (CSF) flow after endoscopic aqueductoplasty. In all patients, preoperative magnetic resonance (MR) imaging revealed hydrocephalus caused by aqueductal stenosis and lack of aqueductal CSF flow.In 14 healthy volunteers and in eight patients with aqueductal stenosis who had undergone endoscopic aqueductoplasty, aqueductal CSF flow was investigated using cine cardiac-gated phase-contrast MR imaging. For qualitative evaluation of CSF flow, the authors used an in-plane phase-contrast sequence in the midsagittal plane. The MR images were displayed in a closed-loop cine format. Quantitative through-plane measurements were performed in the axial plane perpendicular to the aqueduct. Evaluation revealed no significant difference in aqueductal CSF flow between healthy volunteers and patients with regard to temporal parameters, CSF peak and mean velocities, mean flow, and stroke volume. All restored aqueducts have remained patent 7 to 31 months after surgery.Aqueductal CSF flow after endoscopic aqueductoplasty is similar to aqueductal CSF flow in healthy volunteers. The data indicate that endoscopic aqueductoplasty seems to restore physiological aqueductal CSF flow.
Aqueductal stenosis
Cerebral aqueduct
Ventricular system
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Abstract This study was undertaken to elucidate the pathogenesis of the hydrocephalus and aqueductal stenosis induced by intracerebral mumps virus inoculation in suckling hamsters. Mild ventricular dilatation became apparent after 5 days of inoculation. Focal denuding of the ependymal layer and subsequent aqueductal stenosis were observed by 14 days after inoculation. The virus antigen was detected not only in the ependymal cells and choroid plexus, but also in some neurons in the cerebral cortex, hippocampus, midbrain and cerebellum. In the cerebral aqueduct, the orderly arrangement of the cilialy clusters was destroyed on the 5th day after inoculation. After 10 days, proliferation of GFAP positive cells was noticed around the cerebral aqueduct and subsequently caused aqueductal stenosis. In the advanced state of hydrocephalus, the cerebellum was displaced downward and showed an elongated, atrophic and sleevelike structure similar to the Arnold‐Chiari malformation. It was suggested that the extensive damage of the ependymal cilia may account for early ventricular dilatation, and subsequent aqueductal stenosis with glial proliferation is the main cause of the advanced hydrocephalus. It has not yet been determined whether the mumps virus can pass through the human placenta or not. If it can, however, our results strongly suggest that mumps virus infection in the human fetus will cause congenital hydrocephalus.
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Cerebral aqueduct
Ependymal Cell
Ependyma
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We report on two abortuses with hydrocephalus due to congenital stenosis of the aqueduct of Silvius. The occurrence of this disorder in two siblings (a male and a female) with normal parents supports the autosomal recessive pattern of inheritance. Such a mechanism of inheritance should be taken into account when counselling families with congenital hydrocephaly due to aqueduct stenosis.
Aqueduct
Cerebral aqueduct
Inheritance
Autosomal recessive inheritance
Aqueductal stenosis
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Citations (14)
Objective To evaluate the effect of endoscopic aqueductoplasty in the treatment of obstructive hydrocephalus caused by aqueductal stenosis with cine phase-contrast MR imaging. Methods Twelve patients with obstructive hydrocephalus caused by aqueductal stenosis underwent brain routine MR and cine phase-contrast MR imaging pre-and post-operation with a Philips Gyroscan 1.5T MR scanner. Qualitative evaluation and quantitative measurement of cerebrospinal fluid (CSF) flow through the aqueduct was performed with analytic software for flow. The maximal velocity and maximal flow of CSF flow through the aqueduct pre-and post-operation were measured. Results Brain routine MR showed aqueductal stenosis in all patients. Cine phase-contrast MR imaging showed faint flow throught the aqueduct in 2 patients,and no flow in other 10 patients. In 11 patients,the form of aqueduct became normal and pulsatile CSF flow through the aqueduct was visible post operation,the maximal velocity and maximal flow of CSF flow through the aqueduct increased obviously compared with those preoperative,while in the other patient,the aqueduct keep stenotic post operation,and no CSF flow through the aqueduct. Conclusion Cine phase-contrast MR imaging shows that endoscopic aqueductoplasty is an effective and successful treatment for aqueductal stenosis especially membranous and short-segment stenosis.
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Cerebral aqueduct
Aqueduct
Pulsatile flow
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Aqueductal stenosis
Cerebral aqueduct
Endoscopic third ventriculostomy
Shunting
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✓ A case is reported of aqueductal stenosis caused by an abnormal draining vein and demonstrated by computerized tomography and magnetic resonance imaging. Placement of a ventriculoperitoneal shunt relieved the patient's progressive headaches.
Aqueductal stenosis
Cerebral aqueduct
Obstructive hydrocephalus
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Aqueductal stenosis
Cerebral aqueduct
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WE SUCCESSFULLY MANAGED 11 patients with aqueductal stenosis of adult or adolescent onset, with no mortality or significant morbidity, by using a flexible ventriculoscope to perform either a third ventriculostomy or an aqueductal plasty. A flexible fiberoptic ventriculoscope and its accessories were newly developed, and surgical techniques were improved. For all patients, cinemagnetic resonance imaging was a critical part of the preoperative and postoperative evaluation of cerebrospinal fluid flow in the third ventricle and in the aqueduct of Sylvius. All of the 11 patients showed patency to cerebrospinal fluid flow at the aqueduct of Sylvius and the floor of the third ventricle. Only one patient subsequently required a lumboperitoneal shunt. Flexible endoneurosurgical management is simple and safe and allows in situ observation and the ability to perform biopsies. Therefore, flexible endoneurosurgical third ventriculostomy and aqueductal plasty are now considered our treatment of choice for aqueductal stenosis in adults and adolescents.
Aqueductal stenosis
Cerebral aqueduct
Ventriculostomy
Endoscopic third ventriculostomy
Aqueduct
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We successfully managed 11 patients with aqueductal stenosis of adult or adolescent onset, with no mortality or significant morbidity, by using a flexible ventriculoscope to perform either a third ventriculostomy or an aqueductal plasty. A flexible fiberoptic ventriculoscope and its accessories were newly developed, and surgical techniques were improved. For all patients, cinemagnetic resonance imaging was a critical part of the preoperative and postoperative evaluation of cerebrospinal fluid flow in the third ventricle and in the aqueduct of Sylvius. All of the 11 patients showed patency to cerebrospinal fluid flow at the aqueduct of Sylvius and the floor of the third ventricle. Only one patient subsequently required a lumboperitoneal shunt. Flexible endoneurosurgical management is simple and safe and allows in situ observation and the ability to perform biopsies. Therefore, flexible endoneurosurgical third ventriculostomy and aqueductal plasty are now considered our treatment of choice for aqueductal stenosis in adults and adolescents.
Aqueductal stenosis
Cerebral aqueduct
Ventriculostomy
Endoscopic third ventriculostomy
Aqueduct
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