OBJECTIVE: To analyze L1CAM gene mutation in a family featuring X-linked recurrent fetal hydrocephalus. METHODS: The family had three pregnancies where a male fetus was detected at 22 weeks with hydrocephalus by ultrasonography. DNA was extracted from peripheral blood samples from the parents as well as fetal tissue from the third abortion. The fetal DNA was subjected to testing of folic acid metabolism ability gene and chromosomal microarray analysis (CMA). Next-generation sequencing (NGS) was employed to detect potential mutation of related genes. Suspected mutation was verified by Sanger sequencing. RESULTS: Testing of folic acid metabolism ability gene (MTHFR C677T) and CMA were both normal. A c.512G>A (p.Trp171Ter) hemizygous mutation of the L1CAM gene was detected in the fetal tissue, which was inherited from the phenotypically normal mother. The novel mutation was predicted to be pathogenic. CONCLUSION The c.512G>A (p.Trp171Ter) mutation of the L1CAM gene probably underlies the X-linked hydrocephalus in this family. Screening of L1CAM gene variations should be carried out for couples experiencing recurrent fetal hydrocephalus affecting the male gender.
Cerebral Aqueduct ; Female ; Humans ; Hydrocephalus ; genetics ; Male ; Mutation ; Neural Cell Adhesion Molecule L1 ; genetics ; Pedigree ; Pregnancy

OBJECTIVE: Multiple sclerosis (MS) is an inflammatory disease characterized by demyelinating plaques in the white matter. Chronic cerebrospinal venous insufficiency (CCSVI) has been proposed as a new hypothesis for the etiopathogenesis of MS disease. MS-CCSVI includes a significant decrease of cerebrospinal fluid (CSF) flow through the cerebral aqueduct secondary to an impaired venous outflow from the central nervous system. This study aimed to determine whether CSF flow dynamics are affected in MS patients and the contributions to differential diagnosis in active and chronic disease using phase-contrast magnetic resonance imaging (PC-MRI). MATERIALS AND METHODS: We studied 16 MS patients with chronic plaques (group 1), 16 MS patients with active plaques-enhanced on MRI (group 2), and 16 healthy controls (group 3). Quantitatively evaluation of the CSF flow was performed from the level of the cerebral aqueduct by PC-MRI. According to heart rates, 14–30 images were obtained in a cardiac cycle. Cardiac triggering was performed prospectively using finger plethysmography. RESULTS: No statistically significant difference was found between the groups regarding average velocity, net forward volume and the average flow (p > 0.05). Compared with the controls, group 1 and group 2, showed a higher peak velocity (5.5 ± 1.4, 4.9 ± 1.0, and 4.3 ± 1.3 cm/sec, respectively; p = 0.040), aqueductal area (5.0 ± 1.3, 4.1 ± 1.5, and 3.1 ± 1.2 mm2, respectively; p = 0.002), forward volume (0.039 ± 0.016, 0.031 ± 0.013, and 0.021 ± 0.010 mL, respectively; p = 0.002) and reverse volume (0.027 ± 0.016, 0.018 ± 0.009, and 0.012 ± 0.006 mL, respectively; p = 0.000). There were no statistical significance between the MS patients with chronic plaques and active plaques except for reverse volume. The MS patients with chronic plaques showed a significantly higher reverse volume (p = 0.000). CONCLUSION: This study indicated that CSF flow is affected in MS patients, contrary to the hypothesis that CCSVI-induced CSF flow decreases in MS patients. These findings may be explained by atrophy-dependent ventricular dilatation, which may occur at every stage of MS.
Central Nervous System ; Cerebral Aqueduct ; Cerebrospinal Fluid ; Chronic Disease ; Diagnosis, Differential ; Dilatation ; Fingers ; Heart Rate ; Humans ; Magnetic Resonance Imaging ; Multiple Sclerosis ; Plethysmography ; Prospective Studies ; Venous Insufficiency ; White Matter

PURPOSE: The purpose of this study was to introduce a method of using three-dimensional (3D) curved-multiplanar reconstruction (MPR) images for sylvian dissection during microsurgical treatment of middle cerebral artery (MCA) aneurysms. MATERIALS AND METHODS: Forty-nine patients who had undergone surgery for MCA aneurysms were enrolled. We obtained the 3D curved-MPR images along the sphenoid ridge using OsiriX MD™ imaging software, compared sylvian dissection time according to several 3D MPR image factors, and investigated the correlations between these images and intraoperative findings. RESULTS: Utilizing preoperative information of the sylvian fissure (SF) and peri-aneurysmal space on 3D curved-MPR images, we could predict the feasibility of sylvian dissection for a safe surgery. 3D curved-MPR images showed several features: first, perpendicular images to the sylvian surface in the same orientation as the surgeon's view; second, simultaneous visualization of the brain cortex, vessels, and cisternal space; and third, more accurate measurement of various parameters, such as depth of the MCA from the sylvian surface and the location and width of the SFs. CONCLUSION: In addition to conventional image studies, 3D curved-MPR images seem to provide useful information for Sylvian dissection in the microsurgical treatment of MCA aneurysms.
Adult ; Aged ; Cerebral Aqueduct/*surgery ; Female ; Humans ; Imaging, Three-Dimensional/*methods ; Intracranial Aneurysm/*surgery ; Male ; Microdissection/*methods ; Microsurgery/methods ; Middle Aged ; Middle Cerebral Artery/*surgery

BACKGROUND AND PURPOSE: Various magnetic resonance (MR) measurements have been proposed to aid in differentiating between progressive supranuclear palsy (PSP) and idiopathic Parkinson's disease (IPD); however, these methods have not been compared directly. The aim of this study was to determine which measurement method exhibits the highest power to differentiate between PSP and IPD. METHODS: Brain MR images from 82 IPD and 29 PSP patients were analyzed retrospectively. T1-weighted 3D volumetric axial images, or sagittal images reconstructed from those axial images were examined. MR measurements included the length from the interpeduncular fossa to the center of the cerebral aqueduct at the mid-mammillary-body level, adjusted according to the anterior commissure-posterior commissure length (MB(Tegm)), the ratio of the midbrain area to the pons area (M/P ratio) as measured by both Oba's method (Oba M/P) and Cosottini's method (Cosottini M/P), and a modified MR parkinsonism index (mMRPI). RESULTS: Receiver operating characteristic (ROC) analysis indicated that the areas under the ROC curves (AUCs) exceeded 0.70, with a high intrarater reliability for all MR measurement methods. ROC analyses of four MR measurements yielded AUCs of 0.69-0.76. At the cutoff value with the highest Youden index, mMRPI had the highest sensitivity, while Oba M/P offered the highest specificity. A comparison of the ROC analyses revealed that MB(Tegm) was superior to mMRPI in differentiating PSP from IPD (p=0.049). There was no difference in discriminating power among Oba M/P, Cosottini M/P, and MB(Tegm). CONCLUSIONS: Simple measurements of MB(Tegm) on axial MR images at the mid-mammillary-body level are comparable to measurements of the M/P ratio with regard to their ability to discriminate PSP from IPD.
Area Under Curve ; Brain ; Cerebral Aqueduct ; Diagnosis, Differential* ; Humans ; Magnetic Resonance Imaging ; Mesencephalon* ; Neuroimaging ; Parkinson Disease* ; Parkinsonian Disorders ; Pons ; Retrospective Studies ; ROC Curve ; Sensitivity and Specificity ; Supranuclear Palsy, Progressive*

The clinical characteristics of patients who presented in poor clinical grade due to ruptured middle cerebral artery aneurysms (MCAAs) associated with large sylvian hematomas (SylH) were analyzed and an ingenious designed prophylactic hinged craniectomy was introduced. Twenty-eight patients were graded into Hunt-Hess grades IV-V and emergency standard micro-neurosurgeries (aneurysm clipping, hematoma evacuation and prophylactic hinged craniectomy) were performed, and their clinical data were retrospectively analyzed. 46.43% of the patients reached encouraged favorable outcomes on discharge. The favorable outcome group and the poor outcome group significantly differed in terms of patients' anisocoria, Hunt-Hess grade before surgery, extent of the midline shift and time to the surgery after bleeding (P<0.05). There were no significant differences in age, sex, volume and location of the hematoma, size of aneurysm between the favorable and poor groups (P>0.05). However, ingenious designed prophylactic hinged craniectomy efficiently reduced the patients' intracranial pressure (ICP) after surgery. It was suggested that preoperative conditions such as Hunt-Hess grading, extent of the midline shift and the occurrence of cerebral hernia affect the prognosis of patients, but time to the surgery after bleeding and prophylactic hinged craniectomy are of significant importance for optimizing the prognosis of MCAA patients presenting with large SylH.
Adult ; Aged ; Cerebral Aqueduct ; pathology ; Craniotomy ; methods ; Female ; Hematoma ; complications ; Humans ; Intracranial Aneurysm ; complications ; surgery ; Male ; Middle Aged ; Retrospective Studies ; Tomography, X-Ray Computed ; Treatment Outcome

OBJECTIVE: To study the cerebrospinal fluid (CSF) flow through the aqueduct of sylvius in chronic tension-type headache patients with phase contrast magnetic resonance imaging. METHODS: Phase contrast magnetic resonance imaging (MRI) of the CSF flow through the aqueduct was obtained from 17 patients with chronic tension-type headache and 26 control subjects. A software for CSF flow was applied for MRI data analysis both qualitatively and quantitatively. RESULTS: The CSF through the aqueduct flew in the caudal and cranial directions with the rhythm of the heartbeat in both groups. There were 2 types of flow curves: the smooth "U" and the wave, which were 25 vs 1 in the controls and 11 vs 6 in the patients (P<0.05), respectively. The mean caudocranial flow rate through the aqueduct was (0.235±0.157) mL/s vs (0.133±0.106) mL/s (P<0.05) and the velocity was (6.023±2.654) cm/s vs (3.479±2.364) cm/s (P<0.05), and the mean craniocaudal flow rate was (-0.358±0.201) mL/s vs (-0.190±0.141) mL/s (P<0.05) and the velocity was (-8.263±3.020) cm/s vs (-4.788±2.862) cm/s (P<0.05), respectively. CONCLUSION The CSF flow curve, rate and velocity through the aqueduct in the patients with chronic tension-type headache is anomalous in comparison with the controls.
Case-Control Studies ; Cerebral Aqueduct ; Cerebrospinal Fluid ; physiology ; Humans ; Magnetic Resonance Imaging ; Tension-Type Headache ; cerebrospinal fluid

BACKGROUND: Acute transient obstructive hydrocephalus is rare in adults. We describe a patient with intraventricular hemorrhage (IVH) who experienced the delayed development of acute transient hydrocephalus. CASE REPORT: A 33-year-old man with a previously diagnosed Spetzler-Martin Grade 5 arteriovenous malformation presented with severe headache, which was found to be due to IVH. Forty hours after presentation he developed significant obstructive hydrocephalus due to the thrombus migrating to the cerebral aqueduct, and a ventriculostomy placement was planned. However, shortly thereafter his headache began to improve spontaneously. Within 4 hours after onset the headache had completely resolved, and an interval head CT scan revealed resolution of hydrocephalus. CONCLUSIONS: In patients with IVH, acute obstructive hydrocephalus can develop at any time after the ictus. Though a delayed presentation of acute but transient obstructive hydrocephalus is unusual, it is important to be aware of this scenario and ensure that deterioration secondary to thrombus migration and subsequent obstructive hydrocephalus do not occur.
Adult ; Arteriovenous Malformations ; Cerebral Aqueduct ; Dietary Sucrose ; Head ; Headache ; Hemorrhage ; Humans ; Hydrocephalus ; Thrombosis ; Ventriculostomy

BACKGROUND: While tonic pupils have been attributed to various diseases, including syphilis, herpes zoster, orbital trauma, temporal arteritis, endometriosis, and paraneoplastic syndromes, obstructive hydrocephalus has not been implicated. CASE REPORT: A 36-year-old woman visited a neurology department with a 7-day history of throbbing headache and blurred vision in both eyes. She had early dorsal midbrain syndrome mimicking an Adie's tonic pupil, and cholinergic supersensitivity was demonstrated using topical 0.125% pilocarpine. Brain MRI revealed obstructive hydrocephalus at the level of the aqueduct of Sylvius, and her symptoms resolved 4 days after surgery. CONCLUSIONS: We report a patient with early dorsal midbrain syndrome that was initially believed to represent a tonic pupil on the basis of pharmacologic testing. The findings in our patient suggested that early dorsal midbrain syndrome mimicking an Adie's tonic pupil can be caused by obstructive hydrocephalus compressing the Edinger-Westphal nucleus.
Adult ; Brain ; Cerebral Aqueduct ; Endometriosis ; Eye ; Female ; Giant Cell Arteritis ; Headache ; Herpes Zoster ; Humans ; Hydrocephalus ; Mesencephalon ; Neurology ; Orbit ; Paraneoplastic Syndromes ; Pilocarpine ; Syphilis ; Tonic Pupil ; Vision, Ocular

BACKGROUND AND PURPOSE: The oculomotor nerve fascicles arise along its entire length and sweep ventrally to exit the midbrain at the medial edge of the crus cerebri. A rostro-caudal topography among the fascicular fibers is relatively well established. There are, however, some controversies whether medio-lateral topography also exists. METHODS: We retrospectively reviewed the clinical records and MRI of the 8 patients showing isolated oculomotor nerve palsy due to midbrain infarction. Brain MRI was performed using a 1.5-T magnet with 2mm thickness and 0.1 mm slice interval. The anterior-posterior axis(X) was defined as the midline crossing the center of the cerebral aqueduct and the medio-lateral axis(Y) as the line crossing the same point. For rostro-caudal measurement, the intercommissural line was used as base line of the Z axis. The location of the lesions was defined by measuring actual distance of the margins of the lesions in millimeter from each axis; anterior, right, and caudal direction was defined as positive values in X, Y and Z coordinates, respectively. RESULTS: The mean values and range of the X, Y and Z are as follows: X=7.56+/-4.34, 1< or =X< or =15; Y=3.43+/-1.37, 0< or =Y< or =6; Z=6.51+/-3.91, 0< or =Z< or =12.5. CONCLUSIONS: The distribution of all the MRI lesions was 0< or =|Y|< or =6 (mm), 0< or =|Z|< or =12.5 (mm) in mediolateral and rostrocaudal direction respectively, which is almost the same as the previously reported divergent range of the oculomotor fascicles in midbrain tegmentum. We suggest that our method of three dimensional measurements of the MRI lesion in midbrain tegmentum could be a useful tool for the study of oculomotor fascicular arrangement.
Axis, Cervical Vertebra ; Brain ; Cerebral Aqueduct ; Humans ; Infarction ; Magnets ; Mesencephalon ; Oculomotor Nerve ; Oculomotor Nerve Diseases ; Retrospective Studies

The sylvian aqueduct syndrome is a global rostral midbrain dysfunction induced by a transtentorial pressure gradient through the aquaeductus. Several months after ventriculoperitoneal shunt, a patient with hydrocephalus began experiencing a constellation of midbrain dysfunction symptoms, including bradykinesia, medial longitudinal fasciculus syndrome, third nerve palsy, and mutism. These were indicative of cerebral aqueduct syndrome. In addition, the patient showed posture-dependent underdrainage or overdrainage. All symptoms were resolved after distal catheter elongation and floating cranioplasty. We present a case of reversible parkinsonism, which developed in a patient with shunted hydrocephalus and aqueductal stenosis, and discuss the diagnosis and treatment of the sylvian aqueduct syndrome. We also review the literature to address problems of drainage and potential treatment modalities.
Catheters* ; Cerebral Aqueduct ; Diagnosis ; Drainage ; Humans ; Hydrocephalus ; Hypokinesia ; Mesencephalon ; Mutism ; Oculomotor Nerve Diseases ; Parkinsonian Disorders* ; Ventriculoperitoneal Shunt