OBJECTIVE Brain arteriovenous malformations (AVMs) can occur in patients with hereditary hemorrhagic telangiectasia (HHT). However, brain AVM without HHT has also been reported. Using whole exome ...sequencing, the authors performed comprehensive genomic characterization of a 6-person Turkish family with 3 cases of brain AVM without HHT. METHODS Three siblings with brain AVM, one of whom also had spinal AVM, were evaluated. The parents and the fourth sibling had no AVM on cranial MRI. The authors performed a whole exome capture and Illumina sequencing on blood samples from 2 siblings with AVM. RESULTS An ACVRL1 heterozygous mutation (p.Lys332Glu) was identified in 2 patients via whole exome sequencing. Variant segregation was confirmed using direct Sanger sequencing. CONCLUSIONS Study results suggested that whole exome sequencing analysis is particularly useful in cases of locus heterogeneity and uncertain diagnostic classification schemes in patients with hereditary brain AVM.
Purpose
Several genomic loci have been previously found to be associated with intervertebral disc degeneration, so far. Data are mostly derived from northern European countries whereas data derived ...from Southern European Ancestor are limited. This study aimed to evaluate the association between radiological disease severity of lumbar disc degeneration and certain genetic loci in a sample of participants from Southern Europe.
Methods
Seventy-five patients with mild to severe lumbar disc degeneration and 25 healthy controls were enrolled into the study. In each subject, each lumbar intervertebral disc was separately examined to obtain a total radiological score for disease severity. In addition, single-nucleotide polymorphisms of predefined genetic samples were analyzed in all participants: COL1A1 Sp1, COL9a2 Trp2, COL9a3 Trp3, and VDR TaqI.
Results
Degeneration scores were significantly worse in cases with COL1A1 Sp1, COL9a3 Trp3, and VDR TaqI mutations; however, COL9a2 Trp2 mutation was not associated with a difference in the severity of disc degeneration. In addition, subjects with mutation in more than one gene sample (
n
= 20) had significantly worse degeneration scores than the remaining study participants (
n
= 80) (17.70 ± 2.72 vs. 21.81 ± 1.81,
p
< 0.001).
Conclusion
Single-nucleotide polymorphisms occurring in COL1A1, COL9a3 and VDR genes seem to be associated with the development of lumbar disc degeneration in this cohort, possibly with even more pronounced association when multiple mutations are present in the same individual. By further prospective twin studies in associated genes and analyses of their relationship with environmental factors in an internationally sampled large cohort will make a more clear-minded conclusion about their association with disc degeneration, which would yield better appreciation and clinical planning of some predisposed people for these pathologies.
Encephalocele is a congenital anomaly where intracranial neural structures extrude from the cranium through a bony and/or a dural defect. They are generally located at the midline and can be ...diagnosed via prenatal ultrasonography (USG). A very limited number of cases have been reported in the literature about lateral encephalocele. In this paper, the authors present a case with congenital lateral encephalocele which was subsequently operated.
Defective posterior spinal arch and paraspinal musculature lead to progressive kyphosis in patients with myelomeningocele. Kyphosis decreases the patients' functional status and quality of life. To ...correct or prevent further deterioration, different surgical techniques have been introduced. Our aim is to present our clinical experience in kyphectomy and pedicle screw fixation with a posterior-only approach in pediatric patients with myelomeningocele and to discuss the technique with a review of the literature.
Four patients with lumbar and 2 patients with thoracolumbar kyphosis (female:male ratio = 1:5) secondary to myelomeningocele were operated between January 2009 and October 2012. The median age was 5.5 years (range = 3-10 years). The criteria of the patient selection for the procedure were progression of kyphosis angle, impaired truncal balance and cosmetic deformity. In this retrospective study, we performed chart reviews for demographic and clinical data. We measured the pre- and postoperative kyphosis angles by using the Cobb method on lateral x-rays.
The mean preoperative kyphosis angle was 114.3° (range = 91-136°). The mean operative time was 171.7 min (range = 110-220 min). The mean intraoperative blood loss was 450 cc (range = 300-700 cc). The postoperative mean kyphosis angle was 28.2° (range = 13-33°). Five patients had skin breakdown. After osteofusion was established, those 5 patients' instrumentations were explanted. No acute or immediate postoperative complications occurred. Other complications were pneumonia and urinary tract infection. In the long term, 2 patients died due to pneumonia and slit-ventricle syndrome, respectively.
Kyphectomy and pedicle screw instrumentation with the posterior-only approach dramatically reduces the kyphosis angle that develops in patients with myelomeningocele. The method itself is less time-consuming and leads to less intraoperative blood loss compared to other methods used for this patient population. Skin breakdown is the most common short-term complication.
Purpose
Vertebral artery loop is a congenital or acquired anomaly. Vertebral artery loops are incidentally diagnosed during evaluation of neck problems and trauma. We aimed to present the incidence ...of VA loops using magnetic resonance angiography in consecutive patients and discuss epidemiological data including the gender, age, location, signs and symptoms, treatment approaches and outcomes of VA loops via analyzing literature.
Methods
In the first leg of our two-legged study, consecutive patients were evaluated using magnetic resonance angiography to detect any medial loop of vertebral arteries. The study period was from October 2015 to March 2016. In the second leg, academic databases about medial loop of vertebral artery were screened. Case reports, case series, abstracts and references of relevant literature were searched manually to avoid any missing cases.
Results
We evaluated 239 consecutive patients using magnetic resonance angiography. Twenty-one patients were excluded from the study due to inadequate image acquisition, aplastic vertebral artery and/or concomitant vertebral artery stenosis. Medial loop of V2 vertebral artery was observed in 13 patients (5.9 %): 9 with left, 2 with right and 2 with bilateral medial V2 loop. Patients with medial V2 loop were significantly older than patients with straight vertebral arteries (70.30 vs. 62.36,
p
= 0.028). In the literature analysis, VA loops were more commonly observed at V2 segment (90.5 %). Vertebral artery loops were mostly diagnosed at the 5th and 6th decades of life predominantly in females. The most common signs and symptoms were radiculopathy and/or neck pain, and signs and symptoms of vertebrobasilar insufficiency.
Conclusions
Concise pre-operative evaluation of the vertebral arteries is essential to avoid the injury of undiagnosed VA loops during surgery, which might result in catastrophic circumstances. Further evaluation of the vertebral arteries using MR angiography is required, especially in elder age, before cervical spine surgeries.
