Diffuse CNS cortical vein malformations with chromosome 17q microduplication: Possible link to SEC14L1.

Partial trisomy of the long arm of chromosome 17 (17q) is a rare but clinically recognized syndrome that involves facial dysmorphisms, skeletal abnormalities, and global developmental delay, as well as various reports of cardiovascular, renal, and central nervous system abnormalities. This report presents a novel neuroradiologic finding of diffuse enlarged, tortuous cortical veins with physiological antegrade flow in a child with a microduplication of the distal end of 17q. To our knowledge, this finding has not been described previously. Although the exact cause for the cortical vascular anomaly is currently unknown, this duplicated region contains genes of interest for future studies that focus on normal and abnormal angiogenesis.

Outcome of Neonates Presenting With Severe Cardiac Failure due to Cerebral Arteriovenous Fistula.

BACKGROUND: Congenital cerebral arteriovenous fistulas (AVFs), including vein of Galen malformations, presenting in infancy carry variable mortality and morbidity. This study aimed to describe the outcome of neonates with cerebral AVFs who present with refractory cardiac failure. METHODS: Retrospective chart review of neonates with refractory cardiac failure due to cerebral AVFs presenting before 28 days of age in a single-center neuro-intensive care nursery over a 12-year period (2008-2020) was conducted. RESULTS: Seventeen neonates were included. Twelve had a vein of Galen malformation, four a non-galenic pial AVF, and one a dural AVF. Seven neonates (41%) died without receiving an embolization procedure. The remaining ten were critically ill. Seven (70%) were mechanically ventilated and on nitric oxide, 5 (50%) were on pressors, and 6 (60%) had renal and/or hepatic dysfunction. Seven (70%) had pre-existing brain injury on imaging. The first embolization procedure occurred at a median age of 4 days (range: 0-8 d). Complications included intracranial hemorrhage in 8 of 10 (80%) and seizures in 5 of 8 (62%). Five (50%) neonates who underwent embolization died. Among the 5 neonates who survived, all have motor impairment. Four (80%) developed hydrocephalus requiring a ventriculoperitoneal shunt, and 2 (40%) developed epilepsy and are nonverbal. CONCLUSION: In this cohort of critically ill neonates with cerebral AVF, all seven who did not receive embolization and half of ten who were treated died. The five survivors all have neurodevelopmental impairment. This information may be helpful to parents and providers who make decisions regarding life-sustaining treatments for neonates with cerebral AVFs and refractory cardiac failure.

Rare Case of Spinal Dural Arteriovenous Fistula with Radiculopathy, without Myelopathy or Spinal Edema on Magnetic Resonance Imaging.

BACKGROUND: Spinal dural arteriovenous fistulas (SDAVFs) are the most common type of spinal arteriovenous malformations; they frequently cause progressive myelopathy including gait disturbances and sensory disorders. CASE DESCRIPTION: We report a rare case of a middle-aged man who experienced right-sided chest pain and Th4 radiculopathy, without any other neurologic presentations. Magnetic resonance imaging showed a flow void sign on the dorsal aspect of the spinal cord; spinal angiography revealed an arteriovenous shunt between a radicular artery and an intradural vein. Suspecting SDAVF as the cause of the chest pain, we performed surgical resection. Intraoperatively, we observed compression of the rootlet by the draining vein. Right chest pain disappeared completely after obliteration of the SDAVF. The present patient had vascular compression of the spinal nerve rootlet without any venous congestion. CONCLUSIONS: Our experience shows that SDAVF can present not only as a myelopathy but also as a radiculopathy, indicating that radiculopathy may become a main symptom of SDAVF.

Two Bleeding Foci in a Mixed Vascular Malformation of the Brain

A cavernous angioma (CA) and a developmental venous anomaly may consist a mixed vascular malformation (MVM). Two bleeding foci were observed in a MVM of a man with epilepsy. The hemodynamic association between the two foci was not clear. An advance of neuroimaging may enhance the susceptibility of detection of MVMs. We should consider a MVM when a daughter bleeding focus occurs near the main bleeding focus associated with a CA.

Pure arterial malformation of the posterior inferior cerebellar artery diagnosed by MR angiography.

Pure arterial malformation in the brain is extremely rare, and few cases are reported. We present a case of pure malformation of the posterior inferior cerebellar artery diagnosed using magnetic resonance (MR) angiography. Careful observation of source images of MR angiography is important for detecting the typical coil-like appearance.

Application value of susceptibility weighted imaging in brain vascular malformations / 中国医师进修杂志

Objective To discuss the clinical value of susceptibility weighted imaging (SWI) in the brain vascular malformations. Methods Imaging data of 34 patients with brain vascular malformations proved by digital subtraction angiography (DSA) or pathology obtained on Siemens Sonata 1.5T MR system were studied prospectively, and compared with those of conventional MRI (cMRI) and SWI. Results All 41 lesions of 34 patients with brain vascular malformations showed clearly by SWI. These patients were diagnosed by surgical findings or DSA. These nidus comprised 19 cavernous angiomas, 9 arteriovenous malformations and 6 cerebral venous malformations. Conclusion SWI should be used for clinical diagnosis of brain vascular malformations, and providing more complete and detailed information combining with other sequence.