OBJECTIVE: To analyze magnetic resonance imaging (MRI) findings of Mullerian remnants in young females clinically suspected of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in a primary amenorrhea workup. MATERIALS AND METHODS: Fifteen young females underwent multiplanar T2- and transverse T1-weighted MRI at either a 1.5T or 3.0T MR imager. Two gynecologic radiologists reached consensus decisions for the evaluation of Mullerian remnants, vagina, ovaries, and associated findings. RESULTS: All cases had bilateral uterine buds in the pelvic cavity, with unilateral cavitation in two cases. The buds had an average long-axis diameter of 2.64 +/- 0.65 cm. In all cases, bilateral buds were connected with fibrous band-like structures. In 13 cases, the band-like structures converged at the midline or a paramedian triangular soft tissue lying above the bladder dome. The lower one-third of the vagina was identified in 14 cases. Fourteen cases showed bilateral normal ovaries near the uterine buds. One unilateral pelvic kidney, one unilateral renal agenesis, one mild scoliosis, and three lumbar sacralization cases were found as associated findings. CONCLUSION: Typical Mullerian remnants in MRKH syndrome consist of bilateral uterine buds connected by the fibrous band-like structures, which converge at the midline triangular soft tissue lying above the bladder dome.
Abnormalities, Multiple/*pathology ; Adolescent ; Adult ; Female ; Humans ; Kidney/abnormalities/pathology ; Magnetic Resonance Imaging/*methods ; Middle Aged ; Mullerian Ducts/abnormalities/pathology ; Retrospective Studies ; Somites/abnormalities/pathology ; Spine/abnormalities/pathology ; Uterus/abnormalities/pathology ; Vagina/abnormalities/pathology

Jarcho-Levin syndrome (JLS) is a condition manifested by malformations of vertebral bodes and related ribs. There are two major subtypes spondylocostal dysostosis and spondylothoracic dysostosis, with different survival rates, associated malformations, and inheritance patterns. We have experienced an autopsy case of a premature female fetus with multiple congenital anomalies. She was 30 weeks of gestational age, born as the second baby of twins and expired shortly after birth. A post-mortem examination revealed multiple abnormalities including cervicothoracic hemivertebrae, a diminished number of right-sided ribs, and pulmonary hypoplasia with left diaphragmatic hernia. In addition, there were anomalous rotation of the foregut, unfused pancreas and anomalous drainage of the superior vena cava. Chromosomal analysis showed 46, XX, del(4)(q ter).
Abnormalities, Multiple/genetics/*pathology ; Autopsy ; Chromosome Deletion ; Chromosomes, Human, Pair 4 ; Female ; Humans ; Infant, Newborn ; Ribs/*abnormalities ; Spine/*abnormalities ; Syndrome

Cervical kyphosis is a rare condition that can cause significant functional disability and myelopathy. Deciding the appropriate treatment for such deformities is challenging for the surgeon. Patients often present with axial neck pain, and it is not uncommon to find coexisting radiculopathy or myelopathy. The optimal approach for addressing this complex issue remains controversial. A comprehensive surgical plan based on knowledge of the pathology and biomechanics is important for kyphosis correction. Here we reviewed diagnoses of the cervical spine along with the literature pertaining to various approaches and management of cervical spine.
Congenital Abnormalities ; Diagnosis ; Humans ; Kyphosis ; Neck Pain ; Pathology ; Radiculopathy ; Spinal Cord Diseases ; Spine

OBJECTIVETo investigate the incidences and characteristics of the ribs and intraspinal abnormalities in surgical patients with congenital scoliosis.

METHODSWe conducted a retrospective study of the medical records and spine radiographs of 118 patients underwent surgical treatment between January 2010 and March 2011 with congenital scoliosis. The average age was 14 years (3-50 years).Fifty-two were male and 66 were female patients. The rib and intraspinal abnormalities were compared in different vertebral anomalies. Pearson's χ(2) test were used to analyze the incidence of anomalies of the ribs and vertebrae, as well as intraspinal anomalies.

RESULTSA total of 57 (48.3%) patients were found to have intraspinal abnormalities.Split cord deformities were identified to be the most common intraspinal anomaly (32.2%), followed by syringomyelia (21.2%).Sixty-nine patients (58.5%) had rib anomalies, which occurring on the concavity of the scoliosis was most frequent. The patients with mixed deformity and failure of segment were found to have a higher incidence of rib anomaly than those with failure formation (χ(2) = 14.05, P < 0.01). The patients with multiple level malformations were found to have significantly higher incidence of rib anomaly than those with single level malformation (χ(2) = 27.50, P < 0.01).Intraspinal anomalies occurred in 42 of 69 patients (60.9%) with rib anomalies and 15 of 49 patients (30.6%) without rib anomalies in congenital scoliosis. The occurrence of intraspinal malformation has significant difference with or without rib anomalies in congenital scoliosis (χ(2) = 10.5, P < 0.01).

CONCLUSIONSThe intraspinal malformation is common in patients with mixed defects and failures of segmentation. The rib anomalies occurring on the concavity of the scoliosis is most frequent. The incidence of intraspinal anomaly is significant higher in the patients with rib anomalies than those without rib anomalies. Both the occurrence and type of rib anomaly, combined with vertebral deformity are helpful in forecasting the occurrence of intraspinal abnormalis.

Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Incidence ; Kyphosis ; pathology ; Male ; Middle Aged ; Retrospective Studies ; Ribs ; abnormalities ; Scoliosis ; classification ; congenital ; pathology ; Spine ; abnormalities ; Syringomyelia ; pathology ; Young Adult

OBJECTIVE: Lateral interbody fusion (LIF) is attractive as a less invasive technique to address anterior spinal pathology in the treatment of adult spinal deformity. Its own uses and benefits in treatment of adult degenerative scoliosis are undefined. To investigate the radiographic and clinical outcomes of LIF, and staged LIF and posterior spinal fusion (PSF) for the treatment of adult degenerative scoliosis patients, we analyzed radiographic and clinical outcomes of adult degenerative scoliosis patients who underwent LIF and posterior spinal fusion.METHODS: Forty consecutive adult degenerative scoliosis patients who underwent LIF followed by staged PSF at a single institution were retrospectively reviewed. Long-standing 36” anterior-posterior and lateral radiographs were taken preoperatively, at inter-stage, 3 months, 1 year, and 2 years after surgery were reviewed. Outcomes were assessed through the visual analogue scale (VAS), 36-Item Short Form Health Survey (SF-36), and Oswestry Disability Index (ODI).RESULTS: Forty patients with a mean age of 66.3 (range, 49–79) met inclusion criteria. A mean of 3.8 levels (range, 2–5) were fused using LIF, while a mean of 9.0 levels (range, 3–16) were fused during the posterior approach. The mean time between stages was 1.4 days (range, 1–6). The mean follow-up was 19.6 months. Lumbar lordosis was significantly restored from 36.4º preoperatively up to 48.9º (71.4% of total correction) after LIF and 53.9º after PSF. Lumbar coronal Cobb was prominently improved from 38.6º preoperatively to 24.1º (55.8% of total correction) after LIF, 12.6º after PSF respectively. The mean pelvic incidence-lumbar lordosis mismatch was markedly improved from 22.2º preoperatively to 8.1º (86.5% of total correction) after LIF, 5.9º after PSF. Correction of coronal imbalance and sagittal vertebral axis did not reach significance. The rate of perioperative complication was 37.5%. Five patients underwent revision surgery due to wound infection. No major perioperative medical complications occurred. At last follow-up, there were significant improvements in VAS, SF-36 Physical Component Summary and ODI scores.CONCLUSION: LIF provides significant corrections in the coronal and sagittal plane in the patients with adult degenerative scoliosis. However, LIF combined with staged PSF provides more excellent radiographic and clinical outcomes, with reduced perioperative risk in the treatment of adult degenerative scoliosis.
Adult ; Animals ; Congenital Abnormalities ; Follow-Up Studies ; Health Surveys ; Humans ; Lordosis ; Pathology ; Retrospective Studies ; Scoliosis ; Spinal Fusion ; Spine ; Wound Infection

Aneurysmal bone cyst (ABC) is a rare non-neoplastic bone lesion that involves mostly the long bones and vertebrae and may occur very rarely in the craniofacial bones. ABCs may occur as secondary bony pathologies in association with various benign and malignant bone tumors and with fibrous dysplasia (FD). FD is a common non-neoplastic bony pathology mostly affecting craniofacial bones. Secondary ABC occurring in craniofacial FD is extremely rare, with only approximately 20 cases reported in the literature to date. Here, we report on a case of secondary ABC in a 25-year-old woman who has had a craniofacial deformity for over 10 years and who presented to us with a rapidly growing painful pulsatile mass in the right frontal region that began over 2 months prior to admission. On thorough examination of computed tomography and magnetic resonance imaging brain scans taken at two-month interval, an aggressive, rapidly enlarging ABC, arising from the right frontal FD, was diagnosed. The patient underwent preoperative embolization followed by gross total resection of the ABC and cranioplasty. The 6-month follow up showed no recurrence of the ABC, nor was any progression of the FD noticed.
Adult ; Aneurysm* ; Bone Cysts* ; Bone Cysts, Aneurysmal ; Brain ; Congenital Abnormalities ; Craniotomy ; Female ; Fibrous Dysplasia of Bone ; Follow-Up Studies ; Frontal Bone ; Humans ; Magnetic Resonance Imaging ; Pathology ; Recurrence ; Spine