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1.  FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst 
PLoS ONE  2013;8(11):e80548.
Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2. However, FOXC2 mutation analysis has been performed in only 1 family, and no mutation analysis has been performed on sporadic (non-familial) SEDACs. We recruited 17 SEDAC subjects consisting of 2 familial and 7 sporadic cases and examined FOXC2 mutations by Sanger sequencing and structural abnormalities by TaqMan copy number assay. We identified 2 novel FOXC2 mutations in 2 familial cases. Incomplete LDS penetrance was noted in both families. Four subjects presented with SEDACs only. Thus, SEDAC caused by the heterozygous FOXC2 loss-of-function mutation should be considered a feature of LDS, although it often manifests as the sole symptom. Seven sporadic SEDAC subjects had no FOXC2 mutations, no symptoms of LDS, and showed differing clinical characteristics from those who had FOXC2 mutations, suggesting that other gene(s) besides FOXC2 are likely to be involved in SEDAC.
PMCID: PMC3838418  PMID: 24278289
2.  Identification of a Susceptibility Locus for Severe Adolescent Idiopathic Scoliosis on Chromosome 17q24.3 
PLoS ONE  2013;8(9):e72802.
Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity, affecting around 2% of adolescents worldwide. Genetic factors play an important role in its etiology. Using a genome-wide association study (GWAS), we recently identified novel AIS susceptibility loci on chromosomes 10q24.31 and 6q24.1. To identify more AIS susceptibility loci relating to its severity and progression, we performed GWAS by limiting the case subjects to those with severe AIS. Through a two-stage association study using a total of ∼12,000 Japanese subjects, we identified a common variant, rs12946942 that showed a significant association with severe AIS in the recessive model (P = 4.00×10−8, odds ratio [OR] = 2.05). Its association was replicated in a Chinese population (combined P = 6.43×10−12, OR = 2.21). rs12946942 is on chromosome 17q24.3 near the genes SOX9 and KCNJ2, which when mutated cause scoliosis phenotypes. Our findings will offer new insight into the etiology and progression of AIS.
PMCID: PMC3762929  PMID: 24023777
3.  Acute respiratory failure due to hemothorax after posterior correction surgery for adolescent idiopathic scoliosis: a case report 
Although posterior correction and fusion surgery using pedicle screws carries the risk of vascular injury, a massive postoperative hemothorax in a patient with adolescent idiopathic scoliosis (AIS) is quite rare. We here report a case of a 12-year-old girl with AIS who developed a massive postoperative hemothorax.
Case presentation
The patient had a double thoracic curve with Cobb angles of 63° at T2-7 and 54° at T7-12. Posterior correction and fusion surgery was performed using a segmental pedicle screw construct placed between T2 and T12. Although the patient's respiration was stable during the surgery, 20 minutes after removing the trachea tube, the patient’s pulse oximetry oxygen saturation suddenly decreased to 80%. A contrast CT scan showed a massive left hemothorax, and a drainage tube was quickly inserted into the chest. The patient was re-intubated and a positive end-expiratory pressure of 5 cmH2O applied, which successfully stopped the bleeding. The patient was extubated 4 days after surgery without incident. Based on contrast CT scans, it was suspected that the hemothorax was caused by damage to the intercostal arteries or branches during pedicle probing on the concave side of the upper thoracic curve. Extensive post-surgical blood tests, echograms, and CT and MRI radiographs did not detect coagulopathy, pulmonary or vascular malformation, or any other possible causative factors.
This case underscores the potential risk of massive hemothorax related to thoracic pedicle screw placement, and illustrates that for this serious complication, respiratory management with positive airway pressure, along with a chest drainage tube, can be an effective treatment option.
PMCID: PMC3636110  PMID: 23577922
4.  Severe progressive scoliosis due to huge subcutaneous cavernous hemangioma: A case report 
Scoliosis  2011;6:3.
Cavernous hemangioma consists mainly of congenital vascular malformations present before birth and gradually increasing in size with skeletal growth. A small number of patients with cavernous hemangioma develop scoliosis, and surgical treatment for the scoliosis in such cases has not been reported to date. Here we report a 12-year-old male patient with severe progressive scoliosis due to a huge subcutaneous cavernous hemangioma, who underwent posterior correction and fusion surgery. Upon referral to our department, radiographs revealed a scoliosis of 85° at T6-L1 and a kyphosis of 58° at T4-T10. CT and MR images revealed a huge hemangioma extending from the subcutaneous region to the paraspinal muscles and the retroperitoneal space and invading the spinal canal. Posterior correction and fusion surgery using pedicle screws between T2 and L3 were performed. Massive hemorrhage from the hemangioma occurred during the surgery, with intraoperative blood loss reaching 2800 ml. The scoliosis was corrected to 59°, and the kyphosis to 45° after surgery. Seven hours after surgery, the patient suffered from hypovolemic shock and disseminated intravascular coagulation due to postoperative hemorrhage from the hemangioma. The patient developed sensory and conduction aphasia caused by cerebral hypoxia during the shock on the day of the surgery. At present, two years after the surgery, although the patient has completely recovered from the aphasia. This case illustrates that, in correction surgery for scoliosis due to huge subcutaneous cavernous hemangioma, intraoperative and postoperative intensive care for hemodynamics should be performed, since massive hemorrhage can occur during the postoperative period as well as the intraoperative period.
PMCID: PMC3065437  PMID: 21414205

Results 1-4 (4)