The authors report a case of 21-year-old, neurologically normal female who presented with a teratoma contained in a cervical meningocele. The concurrence of a congenital neoplasm within the spine associated with spina bifida cystica seems to be a very rare event. The radiographic studies, histological examinations, treatment and follow up findings in this case are presented with a review of the literature.
Female ; Follow-Up Studies ; Humans ; Meningocele* ; Spina Bifida Cystica ; Spine ; Teratoma* ; Young Adult

Sacrococcygeal teratoma is a rare tumor, it occurs once in every 40,000 live births. Most of the reported cases appear in female infant (M:F=1:4). They deserve clinical attention because they are potentially malignant and are curable if diagnosed and treated early. The patients may have associated congenital anomalies. This patient has spina bifida cystica in lower sacrum. Brief review of related literature is included in the report.
Female ; Humans ; Infant ; Infant, Newborn* ; Live Birth ; Sacrum ; Spina Bifida Cystica* ; Spinal Dysraphism* ; Teratoma*

Myelomengocele is one of the most common congenital anomalies. The exact incidence of myelomeningocele is not known, but it is about one to three per 1000 live births. The long term results of treatment of infants born with myelomeningocele are disappointing. So many factors must be considered in deciding the treatment of the patients, such as clinical state of the patients, family's attitude, socioeconomic factors, and ethical and moral aspects. Authors performed clinical study of 71 cases of spina bifida cystica for past 10 years and the results are as follows : 1) Of the 71 cases, 51 cases(71.8%) were myelomeningocele and 20(28.2%) were meningocele. There was no sexual difference. 2) Admissions within 24 hours after birth were only 21 cases(29.5%). 3) Familial tendency and the relation to the number of childbearings were not observed. Majority of the cases were born in the families of low socioeconomic state. 4) Of the 71 cases, 17 cases(23.9%) were associated with hydrocephalus and 3(4.2%) with Arnold-Chiari malformation. 5) 39 cases(76.5%) of myelomeningocele showed definite neurological deficit but all cases of meningocele were quite normal neurologically. 6) Operation was performed in only 24 cases(47.1%) of 51 myelomeningocele.
Arnold-Chiari Malformation ; Humans ; Hydrocephalus ; Incidence ; Infant ; Live Birth ; Meningocele ; Meningomyelocele* ; Parturition ; Socioeconomic Factors ; Spina Bifida Cystica

OBJECTIVE: There are two types of spina bifida aperta: cystic type and flat type. Unruptured cystic sac of spina bifida may interfere free leakage of cerebrospinal fluid into amnionic fluid space. Therefore its presence could influence the appearance of the intracranial signs on prenatal ultrasound. The purpose of this study was to define the ultrasound findings causing the appearance of indirect intracranial signs. METHODS: Twenty-one fetuses with spina bifida were evaluated from Jan/1998 to March/2004. Incidence of indirect cranial signs (changes of ventricular width, morphologic change of cerebellum, obliteration of cisterna magna, decreased biparietal diameter and lemon sign) were evaluated according to gestational age at diagnosis, size, location and morphology of the spinal lesion. RESULTS: Meningeal sac was visible in 10 cases (48%), flat form in 11 cases (52%) on prenatal ultrasound. All of the intracranial signs seemed to appear more frequently on flat spina bifida, but there were no statistical significance. CONCLUSION: It seems like that the presence of the sac in spina bifida aperta did not interfere the appearance of intracranial signs on prenatal ultrasound.
Amnion ; Cerebellum ; Cerebrospinal Fluid ; Cisterna Magna ; Diagnosis ; Fetus* ; Gestational Age ; Incidence ; Neural Tube Defects* ; Neural Tube* ; Spina Bifida Cystica ; Spinal Dysraphism ; Ultrasonography

STUDY DESIGN: We established induced pluripotent stem cells (iPSCs) and neural stem/progenitor cells (NSPCs) from three newborns with spina bifida aperta (SBa) using clinically practical methods. PURPOSE: We aimed to develop stem cell lines derived from newborns with SBa for future therapeutic use. OVERVIEW OF LITERATURE: SBa is a common congenital spinal cord abnormality that causes defects in neurological and urological functions. Stem cell transplantation therapies are predicted to provide beneficial effects for patients with SBa. However, the availability of appropriate cell sources is inadequate for clinical use because of their limited accessibility and expandability, as well as ethical issues. METHODS: Fibroblast cultures were established from small fragments of skin obtained from newborns with SBa during SBa repair surgery. The cultured cells were transfected with episomal plasmid vectors encoding reprogramming factors necessary for generating iPSCs. These cells were then differentiated into NSPCs by chemical compound treatment, and NSPCs were expanded using neurosphere technology. RESULTS: We successfully generated iPSC lines from the neonatal dermal fibroblasts of three newborns with SBa. We confirmed that these lines exhibited the characteristics of human pluripotent stem cells. We successfully generated NSPCs from all SBa newborn-derived iPSCs with a combination of neural induction and neurosphere technology. CONCLUSIONS: We successfully generated iPSCs and iPSC-NSPCs from surgical samples obtained from newborns with SBa with the goal of future clinical use in patients with SBa.
Cells, Cultured ; Ethics ; Fibroblasts ; Humans ; Induced Pluripotent Stem Cells* ; Infant, Newborn* ; Meningomyelocele ; Plasmids ; Pluripotent Stem Cells ; Regenerative Medicine ; Skin ; Spina Bifida Cystica* ; Spinal Cord ; Spinal Dysraphism* ; Stem Cell Transplantation ; Stem Cells

OBJECTIVETo establish the normal reference ranges of transabdominal ultrasound measurements of the posterior fossa structure in fetuses at 11 to 13⁺⁶ gestational weeks and explore their clinical value in screening open spina bifida (OSB).

METHODSBetween January, 2013 and September, 541 randomly selected normal fetuses underwent nuchal translucency at the gestational age 11 to 13⁺⁶ weeks. The parameters of the posterior fossa were measured in mid-sagittal view of the fetal face and the axial view of the transverse cerebellum insonated through the anterior fontanel by transabdominal ultrasound to establish the normal reference ranges. The measurements were obtained from 3 fetuses with OSB for comparison with the reference ranges.

RESULTSIn normal fetuses, the parameters of the posterior fossa measured in the two views showed no significant differences (P>0.05). Two high echogenic lines were observed in normal fetuses, as compared with one in fetuses with OSB representing the posterior border of the brain stem and the anterior border of the fourth ventricle. The line between the posterior border of the fourth ventricle and the anterior border of the cisterna magna was not displayed in fetuses with OSB. The anteroposterior diameters of the brain stem, the fourth ventricle, and cisterna magna all increased in positive correlation with the crown-lump length in normal fetuses. In the 3 OSB fetuses, the anteroposterior diameter of the brain stem exceeded the 95th percentile and the anteroposterior diameter of fourth ventrical-cisterner magena was below the 5th percentile of the reference range for CRL; the brain stem to fourth ventrical-cisterner magena anteroposterior diameter ratio was increased to above 1.

CONCLUSIONThe established normal reference ranges of the parameters of fetal posterior fossa may provide assistance in early OSB detection. The absence of the posterior border of the fourth ventricle and the anterior border of the cisterna magna and a brainstem to fourth ventrical-cisterner magena anteroposterior diameter ratio greater than 1 can be indicative of OSB at 11 to 13⁺⁶ gestational weeks.

Brain Stem ; Cerebellum ; Cisterna Magna ; Cranial Fossa, Posterior ; Female ; Fourth Ventricle ; Gestational Age ; Humans ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Trimester, First ; Reference Values ; Spina Bifida Cystica ; diagnostic imaging ; Ultrasonography, Prenatal

Maternal serum alpha-fetoprotein(MSAFP) has been a world wide screening test for open neural the tube defect. But elevation of MSAFP is related to not only neural tube defect, but also incorrect gestational age, congenital anomalies such as congenital nephrosis, esophageal and intestinal obstruction, low birth weight, oligohydroamnios, fetal death and chromosomal anomalies. If MSAFP is elevated, gestational age, congenital anomalies such as neural tube defect, multiple pregnancy and fetal death must be evaluated by ultrasound. When the ultrasound is nondiagnostic, amniotic fluid AFP(AFAFP) levels are measured and if AFAFP is elevated, presence or absence of aetylchoineststarase(AChE) is determined to rule out the false positive of amniotic AFP. Amniotic AChE test yielded detection rate of open spina bifida of 99%, 98% for anecephaly and a false-positive rate of 0.34%. We report a case with elevated AFAFP and positive amniotic AChE result in one fetus of the twin pregnancy conceived by ICSI and ZIFT, but in which targeted ultrasound findings were normal, maintained the pregnancy to term and normal twin was delivered by elective cesarean section.
Acetylcholinesterase ; alpha-Fetoproteins ; Amniotic Fluid* ; Cesarean Section ; Female ; Fetal Death ; Fetus* ; Gestational Age ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Intestinal Obstruction ; Mass Screening ; Nephrosis ; Neural Tube Defects ; Pregnancy ; Pregnancy, Multiple ; Pregnancy, Twin* ; Sperm Injections, Intracytoplasmic* ; Spina Bifida Cystica ; Ultrasonography ; Zygote Intrafallopian Transfer ; Zygote*