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A case of a large vein of Galen malformation in a 29-year-old man is presented. A two-staged surgical procedure, first with ligation of the feeding vessels, and followed later by thrombectomy, allowed successful surgical treatment of this lesion.
Aneurysmal dilatation of the vein of Galen is peculiar to arteriovenous malformation around the midbrain. Similar venous aneurysms may rarely occur in other regions. This paper deals with the radiographic findings in three cases of vascular malformation associated with giant venous aneurysms. The pathophysiology resulting in aneurysmal venous dilatation is discussed based on our material and those previously reported.
Two children presented with congestive heart failure in the neonatal period due to malformations of the vein of Galen. Transtorcular coil embolisation produced rapid relief of heart failure. Post-mortem examination showed occlusion of the malformation in one child. The other child is clinically normal at seven months.
Vein of Galen malformation is a rare congenital disorder. It has been studied with most of the imaging modalities; however, there is no report in the literature on magnetic resonance (MR) angiography of the condition. This article describes two patients with the malformation studied by MR angiography-MR arteriography and MR venography.
Claudin-14 (CLDN14) is a key component of tight junctions (TJs) critical for maintaining paracellular barrier function. Variants of CLDN14 have been linked to Vein of Galen malformations (VOGMs), a rare cerebrovascular disorder; however, the molecular mechanisms underlying their pathogenicity remain unknown. Here, we investigate the mechanistic effects of two VOGM-associated mutations, A113P and V143M, using reinforcement-learning driven enhanced sampling molecular dynamics simulations combined with DiffNets-based deep learning and independent trajectory-wide structural analyses. Our analysis reveals that A113P induces broader structural disruption of CLDN14, perturbing paracellular sealing, pore symmetry, and inter-protomer communication, whereas V143M induces structural rearrangements centred around TM3 and the TM3-ECL2 region. In both cases, mutation-specific alterations are observed in structural stability and interfacial organization across oligomeric assemblies. Notably, these effects are qualitatively consistent across different modelled architectures, despite variability in local responses. In the absence of experimentally resolved structures, the structural perturbations reported here provide a mechanistic understanding of how VOGM-associated variants may influence CLDN14 structure and dynamics.
OBJECTIVES: The main objective is to create a knowledge-intensive coding support tool for the International Classification of Diseases (ICD10), which is based on formal representation of ICD10 categories. Beyond this task the resulting ontology could be reused in various ways. Decidability is an important issue for computer-assisted coding; consequently the ontology should be represented in description logic. METHODS: The meaning of the ICD10 categories is represented using the GALEN Core Reference Model. Due to the deficiencies of its representation language (GRAIL) the ontology is transformed to the quasi-standard OWL. A test system which extracts disease concepts and classifies them to ICD10 categories has been implemented in Prolog to verify the feasibility of the approach. RESULTS: The formal representation of the first two chapters of ICD10 (infectious diseases and neoplasms) has been almost completed. The constructed ontology has been converted to OWL DL. The test system successfully identified diseases in medical records from gastrointestinal oncology (84% recall, however precision is only 45%). The classifier module is still under development. Due to the experiences gained during the modelling, in the future work FMA is going to be used as anatomical reference ontology.
In the main markets of Paramaribo (Suriname), many stands offer what is locally called "Bitter-cups", or "Kwasi bita beker", small footed-cups, roughly carved from a whitish wood. The use of these cups is strictly medicinal and it seems to be restricted to Suriname, as they are not found in neighbouring countries (Guyana, French Guiana). The aim of this study was to identify the botanical origin of Bitter-cups still in use in the Saramaka traditional medicine (as information from field people was controversial), and document the ethnopharmacology of this original galenical artefact. Microscopic and high performance liquid chromatography (HPLC) analyses were carried out on Bitter-cup, and anatomical criteria (marginal parenchyma band, size of intervessel and vessel-ray pits, rays width and rays composition, vessels clustering, frequency and size of parenchyma pits) together with HPLC profiles of the macerates showed that the wood cup was similar to Quassia amara L. (Simaroubaceae) wood. Ethnopharmacological investigation indicates that the use of these cups is simply due to the pharmacological properties attributed to "bitters", and is strongly linked to tradition and cultural attitudes. This study also emphasizes the long lasting use of these cups, now restricted to Suriname only, with almost no variation over one century.
The detection of a vein of Galen aneurysm in a hydrocephalic fetus is presented. The differential diagnosis for the midline cystic structure was made on the basis of the presence of high-velocity flow on Doppler ultrasonographic examination.
We report the ante-natal diagnosis of a vein of Galen aneurysm using colour flow Doppler at 33 weeks gestation. Ultrasound demonstrated a midline, tubular, echo-free structure superior to the thalamus extending posteriorly. Venous flow was demonstrated within the structure using colour flow Doppler. The diagnosis was confirmed by post-natal sonography. We believe this to be the first ante-natal diagnosis of this condition using colour flow Doppler.
Simple and rapid reversed-phase gradient column liquid chromatography (LC) with fluorescence detection at different wavelengths was developed for the simultaneous analysis of all-trans, 13-cis, 9-cis retinoic acids, vitamin A palmitate and beta-carotene in galenicals. The assay results agreed with those obtained by an LC method with diode-array UV detection. A post-column on-line photochemical reactor (irradiation at 254 and 366 nm) was inserted between the LC column and the fluorescence detector to enhance the performance of the method. Two fluorescence spectra (photoreactor on and off) were obtained for each analyte which proved useful for the unambiguous identification of the various analytes.
Vein of Galen aneurysm is a rare vascular congenital malformation. We report an antenatal diagnosis with duplex Doppler at 26 weeks gestation. Magnetic resonance imaging was used before and after delivery in order to determine neurological prognosis. The neonatal prognosis is poor if fetal cardiac insufficiency or cerebral lesions are present antenatally. Premature delivery does not improve the neonatal outcome. When the aneurysm is not life threatening, embolization of the malformation is at best delayed five months after birth.
Vein of Galen aneurysmal malformations (VGAMs) are rarely seen intracranial congenital vascular malformations with extremely complex vascular architectures. We present two newborns with an unclear intracranial mass being discovered in routine intrauterine ultrasonography. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) identified these lesions as VGAMs. Besides conventional MRA analysis, "virtual cisternoscopy"-a special kind of virtual endoscopy combining perspective volume rendering and motion-was applied to assess the intracranial vasculature. One newborn was treated by means of interventional neuroradiology with coiling of the median prosencephalic vein. The clinical outcome in this case was excellent. The other will undergo interventional therapy shortly.
This paper reports two children who had mental retardation as the predominant manifestation of vein of Galen malformations. C.T. scans demonstrated extensive intracerebral calcification. Surgery reversed the progressive downhill course in one patient and may have arrested further deterioration in the other. The pathophysiological mechanisms underlying the clinical and radiographic features are discussed.
The bioequivalence of an optimised formulation of a generic mefloquine (Mephaquin Lactabs/Test) compared to the reference product under fed conditions was assessed in a GCP/ICH conformable study. A standard two-way randomised crossover design with a 9 week washout period between treatments was used. Blood samples for determination of mefloquine concentrations for calculation of Cmax and AUC were collected at pre-dose and at predefined intervals up to 2016 hours after administration of a single oral dose of 750 mg. A standard bioequivalence analysis was performed on the two one-sided t-test procedure for log-transformed Cmax and AUC. 90% confidence intervals were calculated for both parameters and evaluated against regulatory standards of 80-125% (T/R). Analysis of plasma for mefloquine concentration was performed using a validated LC/MS method with MS detection. The ratio of mean AUC and Cmax (T/R) was 1.015 and 1.044, respectively. The 90% confidence intervals were 95.8-109.3% for AUC and 98.2-110.5% for Cmax. Mephaquin produces plasma concentrations comparable to those after administration of the reference product. The 90% confidence intervals for AUC and Cmax are within the acceptable ranges for bioequivalence of 80-125%. Thus, the optimised galenical formulation of Mephaquin Lactabs is bioequivalent to the reference product.
We describe in this report the development of disseminated intravascular coagulopathy in a neonate after transtorcular embolization of an unusual vein of Galen aneurysm. This rare but potentially fatal complication associated with transtorcular embolization should be considered in decision-making and prognostic evaluation processes, especially in neonates with severe heart failure.
Vein of Galen aneurysmal malformations (VGAM) are rare intracranial vascular anomalies typically found in children. The anatomic landmark of a VGAM is the presence of multiple arteriovenous shunts draining into a dilated median prosencephalic vein, an embryonic vessel normally absent at the adult stage. This article reviews the developmental anatomy, the clinical presentation, and the current management of VGAM.
OBJECTIVE: To examine hemodynamic changes following endovascular embolization in newborn infants with vein of Galen malformation and severe cardiac failure in the first week of life. STUDY DESIGN: Over a recent 5-year period, nine such infants were identified. In seven of these infants, changes in arterial blood pressure were analyzed in relation to the timing of embolization procedures. RESULTS: A significant increase in arterial blood pressure was noted after most embolizations. In two infants, this systemic hypertension was severe and treated using intravenous antihypertensive drugs. Both infants subsequently developed complete infarction of both cerebral hemispheres with sparing of the brainstem and cerebellum. Mortality in the nine infants was 33%, and 83% of the survivors were neurologically normal or near normal at follow-up. CONCLUSION: The systemic hypertension observed following endovascular embolizations may provide a protective mechanism to maintain cerebral blood flow after reperfusion injury. Lowering blood pressure in this situation may therefore be detrimental.
A prenatally diagnosed aneurysm of the vein of Galen was presented in the fetus of a patient referred to our hospital at 31 weeks of gestation. Ultrasonography demonstrated polyhydramnios, cardiomegaly, dilatation of the right atrium and superior vena cava, tricuspid valve regurgitation, hydrocephalus, and a large hypoechoic mass with blood flow in the suboccipital region. Skin edema was shown thereafter. A 3262-g male was delivered by cesarean at 35 weeks of gestation. Computed tomography imaging demonstrated a large mass in the suboccipital region, after which thrombocytopenia appeared and the neonate died at 18 days of age.