OBJECTIVE: Congenital dermal sinus is a rare congenital disease that results from the failure of the neuroectoderm to separate from the surface ectoderm during the process of neurulation, where there is communication between the skin and the deeper structures. Their pathogenesis, clinical course and treatment strategy are well known. We analyze our series and compare our results with other series. METHODS: Twenty patients were diagnosed as congenital dermal sinus and confirmed pathologically from October 1986 to July 2003 at our hospital. We studied the patients' clinical manifestations, radiological findings and pathological profiles. RESULTS: Seven cases were located in the suboccipital area and 13 cases were located in the spinal area. Interestingly, 4 of 13 spinal lesion cutaneous openings were located lower than the 3rd sacral body level. 8 of 20 lesions were terminated at neural structures, 4 of 20 lesions were terminated at the intradural portion and others terminated at the extradural portion. Nine anomalies were combined with the dermal sinus, including 4 lipomas, 2 Currarino's triad, 1 encephalocele, 1 myelomeningocele and 1 diastematomyelia. Eleven patients had dermoid tumors. CONCLUSION: Congenital Dermal Sinus must be surgically removed immediately if they are diagnosed. The surgical procedure of congenital dermal sinus is complete removal, but in some cases, complete removal is impossible. In those cases, we removed all epithelial tissues. We consider sacrococcygeal dimple almost invariably have no connection with intraspinal structures. But, if other cutaneous manifestations are combined with cutaneous pits, it can communicate with the sacrococcygeal dimple.
Dermoid Cyst ; Ectoderm ; Encephalocele ; Humans ; Lipoma ; Meningomyelocele ; Neural Plate ; Neural Tube Defects ; Neurulation ; Skin ; Spina Bifida Occulta*

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

The etiology of neural tube defects, a category encompassing spina bifida, anencephaly and encephalocele, remains highly controversial and unclear, However, there is overwhelming evidence supporting a multifactorial etiology for this group of defects. Recent studies have shown that folic acid supplements taken periconceptionally can reduce a woman's risk of having a child with a neural tube defect. Qenetic screening could identify women who will require folic acid supplements periconceptionally to reduce their risk of having a child with a neural tube defects. Recently, we encountered two cases of recurrent anencephaly that had occurted in a same pregnant woman in our hospital. We report these two cases with brief review of the literatures.
Anencephaly* ; Child ; Encephalocele ; Female ; Folic Acid ; Humans ; Mass Screening ; Neural Tube Defects ; Pregnant Women* ; Spinal Dysraphism

Neural tube defects are the major targets of prenatal diagnoses, along with Down syndrome. Prenatal diagnosis of spina bifida is possible at second trimester of gestation through alpha-fetoprotein and acetylcholinesterase biochemistry assays and ultrasound. In particular, the discovery of characteristic intracranial signs on ultrasound leads to a very high diagnosis rate. However, it is rare for spina bifida to present without intracranial signs while also showing normal values of maternal serum alpha-fetoprotein, amniotic fluid alpha-fetoprotein, and acetylcholinesterase. In our hospital, a fetus with spina bifida was delivered at 37+5 weeks' gestation by cesarean section, and was continually followed up over 2 years to date.
Acetylcholinesterase* ; alpha-Fetoproteins* ; Amniotic Fluid* ; Biochemistry ; Cesarean Section ; Diagnosis ; Down Syndrome ; Female ; Fetus ; Humans ; Meningocele ; Meningomyelocele* ; Neural Tube Defects ; Pregnancy ; Pregnancy Trimester, Second ; Prenatal Diagnosis ; Reference Values ; Spinal Dysraphism ; Ultrasonography*

OBJECTIVE: Spinal dysraphism defects span wide spectrum. Wound dehiscence is a common postoperative complication, and is a challenge in the current management of cerebrospinal fluid (CSF) leaks and wound healing. The purpose of this study is to evaluate the risks of CSF-related morbidity in the surgical treatment of spinal dysraphism. METHODS: Ten patients with spinal dysraphism were included in this retrospective study. The median age of the cohort was 4.8 months. To assess the risk of CSF morbidity, we measured the skin lesion area and the percentage of the skin lesion area relative to the back surface for each patient. We then analyzed the relationship between morbidity and the measured skin lesion area or related factors. RESULTS: The overall median skin lesion area was 36.2 cm2 (n=10). The percentage of the skin lesion area relative to the back surface ranged from 0.6% to 18.1%. During surgical reconstruction, 4 patients required subsequent operations to repair CSF morbidity. The comparison of the mean area of skin lesions between the CSF morbidity group and the non-CSF morbidity group was statistically significant (average volume skin lesion of 64.4+/-32.5 cm2 versus 27.7+/-27.8 cm2, p<0.05). CSF morbidity tended to occur either when the skin lesion area was up to 44.2 cm2 or there was preexisting fibrosis before revision with an accompanying broad-based dural defect. CONCLUSION: Measuring the lesion area, including the skin, dura, and related surgical parameters, offers useful information for predicting wound challenges and selecting appropriate reconstructive surgery methods.
Cohort Studies ; Fibrosis ; Humans ; Meningomyelocele ; Neural Tube Defects ; Postoperative Complications ; Retrospective Studies ; Risk Factors* ; Skin ; Spinal Dysraphism* ; Wound Healing

Congenital dermal sinus (CDS) is a type of occult spinal dysraphism characterized by a midline skin dimple. A 12-month-old girl presented with fever and ascending quadriparesis. She had a midline skin dimple in the upper sacral area that had been discovered in her neonatal period. Imaging studies revealed a holocord intramedullary abscess and CDS. Overlooking CDS or misdiagnosing it as benign sacrococcygeal dimple may lead to catastrophic infection and cause serious neurological deficits. Therefore, further imaging work-up or consultation with a pediatric neurosurgeon is recommended following discovery of any atypical-looking dimples in the midline.
Abscess* ; Diagnosis ; Female ; Fever ; Humans ; Infant ; Neural Tube Defects ; Quadriplegia ; Skin ; Spina Bifida Occulta*

Tethered cord syndrome is a kind of spinal dysraphism with low-lying conus frequently associated with intraspinal lipoma, diastematomelia or fibrous band. The clinical manifestations varies from long periods of no overt symptoms to back pain, scoliosis, progressive neurological deficit of legs and incontinence. Therefore the diagnosis requires a strong clinical suspicion and aggressive investigation. It shows various cutaneous manifestations including hyperpigmentation, skin dimple, dermal sinus or hypertrichosis. This 34-year-old female patient has had a lozenge shaped hair tuft with terminal hair on the lumbosacral area since her birth. Her MRI scan showed dermal sinus and a low-lying conus at the lower border of L5. The filum terminale was also thickened. These findings are compatible for tethered cord syndrome.
Adult ; Back Pain ; Cauda Equina ; Conus Snail ; Diagnosis ; Female ; Hair ; Humans ; Hyperpigmentation ; Hypertrichosis ; Leg ; Lipoma ; Magnetic Resonance Imaging ; Neural Tube Defects* ; Parturition ; Scoliosis ; Skin ; Spina Bifida Occulta ; Spinal Dysraphism

Iniencephaly is an abnormality in cervical vertebra associated with an excessive lordosis of the cervicothoracic spine and neural tube closure defects. The incidence is one of 1,000 to 10,000 live birth. The pathogenesis is unknown. It is possible that iniencephaly is a primary defects in fetal cervical development and the resulting lordosis cause a failure of neural tube closure. Specific sonographic findings are over extended fetal head, very short and modified thorax, generally shortened fetal long bones and frequent associating anencephaly and meningomyelocele. Fetal alpha-fetoprotein elevation may be present. Iniencephaly, when diagnosed in utero, is almost always lethal. We experienced a case of iniencephaly in a fetus of intrauterine pregnancy at 17 weeks diagnosed by prenatal ultrasonography who was terminated because of ultrasonic demonstration of other multiple anomalies. Thus, we report a case with brief review of the literature.
alpha-Fetoproteins ; Anencephaly ; Animals ; Fetus ; Head ; Incidence ; Live Birth ; Lordosis ; Meningomyelocele ; Neural Tube ; Neural Tube Defects* ; Pregnancy ; Spine ; Thorax ; Ultrasonics ; Ultrasonography ; Ultrasonography, Prenatal*

STUDY DESIGN: A retrospective cohort study. PURPOSE: To examine the validity of prophylactic surgery for children with tethered cord syndrome (TCS). OVERVIEW OF LITERATURE: Prophylactic surgery for pediatric patients with TCS remains controversial. METHODS: We retrospectively analyzed the surgical outcomes of 14 children (nine boys and five girls) with asymptomatic TCS who were surgically treated at Hokkaido University Hospital between 1989 and 2015. RESULTS: The median age at the time of initial surgery for asymptomatic TCS was 28.6 months (range, 0–66 months). The median final follow-up period was 142 months (range, 7–232 months). Of the 14 children with asymptomatic TCS, 12 had lumbosacral lipoma and two had meningocele. According to the classification of spinal lipoma, two children had dorsal type, four had caudal type, two had transitional type, and four had filar type. There were no children with lipomyelomeningocele. All children were free of neurological symptoms until 94 months after the initial surgery. Subsequently, one child exhibited delayed neurological deficits and underwent a second surgery because of motor and sensory disturbances; slight sensory disturbance was noted at the final follow-up examination. Another child later showed bowel and bladder dysfunction. However, a second surgery was not performed for this child because his motor and sensory functions were normal; hence, we chose to avoid nerve injury in the case of dissecting adhesion. CONCLUSIONS: All 14 children with asymptomatic TCS were free of neurological symptoms until 94 months after the initial surgery. However, two children exhibited delayed neurological deficits at 94 months and 177 months. We believe that prophylactic surgery for asymptomatic TCS is effective for a certain period. However, because the natural history of TCS is poorly understood, strict follow-up after surgery is necessary.
Child ; Classification ; Cohort Studies ; Follow-Up Studies ; Humans ; Lipoma ; Meningocele ; Natural History ; Neural Tube Defects ; Retrospective Studies ; Sensation ; Spinal Dysraphism ; Urinary Bladder