1/30. Terminal Myelocystocele:an unusual presentation.Terminal myelocystocele is an unusual form of occult spinal dysraphism. It consists of a cystic dilatation of a low-lying terminal cord herniated posteriorly through a skin-covered lumbosacral spina bifida. An arachnoid-lined meningocele, continuous with the spinal subarachnoid space, is traversed by the hydromyelic cord. Clinically, this presents with a skin-covered lumbosacral mass, but often no neurological deficit is present. We present a case of terminal myelocystocele in a child born without deficit and without an obvious back mass. Diagnosis was delayed until sphincter disturbance and lower limb inequalities developed. We discuss the presentation, imaging and operative findings in this case.- - - - - - - - - - ranking = 1keywords = meningocele (Clic here for more details about this article) |
2/30. spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at mitochondrial dna nucleotide 3271.We describe a case of mitochondrial encephalopathy, lactacidosis, and stroke-like episode (melas syndrome) associated with ventricular septal defect and meningocele at the L3 level in a 5-year-old girl. Mitochondrial dna analysis showed point mutation at nucleotide 3271--> TC. The occurrence of heart and neural tube defects in association with usual features of the melas syndrome might be explained by either defective high-energy metabolism during early embryogenesis or a common genetic cause.- - - - - - - - - - ranking = 1keywords = meningocele (Clic here for more details about this article) |
3/30. Multiple coexistent dysraphic pathologies.INTRODUCTION: Four distinct dysraphic anomalies were observed in a single child. While combinations of such anomalies are well recognised, quadruple dysraphic pathology, nevertheless, is extremely uncommon. To our knowledge, no previous cases have been reported in the literature. CASE REPORT: We present the management of a child with a concurrent segmental meningocele, a type-1 split cord malformation (SCM) associated with hemivertebrae, lipomyelomeningoceles in each hemicord of the SCM and a terminal myelocystocele, and we review the literature on potential mechanisms of dysmorphogenesis. DISCUSSION: Existing embryologic hypotheses for the dysraphic spectrum lack experimental evidence and studies in animal models. This case challenges the existing hypotheses and illustrates our incomplete understanding of human terminal spinal cord embryogenesis. Further studies on the morphogenetic basis for these anomalies are required.- - - - - - - - - - ranking = 2keywords = meningocele (Clic here for more details about this article) |
4/30. Chiari II malformation and occult spinal dysraphism. case reports and a review of the literature.We report two cases of children with occult spinal dysraphism who were also found to have many associated brain anomalies seen in the Chiari II malformation. No previous report has commented on the possible association between the Chiari II malformation and the 'closed' form of neural tube defect. One child had symptoms referable to pathology at the craniocervical junction. Neither child had cutaneous stigmata associated with occult spinal dysraphism over the caudal midline spine. These cases, although seemingly rare, lend support to the theories that the association between the Chiari II malformation and patients with myelomeningoceles is due to dysgenesis of the rostral and caudal neural tube. These cases are also important as refutation of earlier theories that link these two entities by proposing that the Chiari II malformation is due to overdrainage of cerebrospinal fluid at the site of myelomeningocele.- - - - - - - - - - ranking = 2keywords = meningocele (Clic here for more details about this article) |
5/30. Cervical meningocele in association with spinal abnormalities.CASE REPORT: This case report presents a newborn baby girl, who was diagnosed at birth with a mid-cervical meningocele. Further radiographic workup by MRI revealed co-existing thoracic diplomyelia and bilateral tethered cords. At birth the patient was found to be neurologically intact. Surgery was performed at 4 months of age, the patient undergoing simultaneous repair of the cervical meningocele, exploration of the diplomyelia, and release of the tethered cords bilaterally. Long-term follow-up revealed an ambulating patient with no bowel or bladder incontinence, who has developed well for her chronological age so far. review OF THE literature: A review of the literature relevant to this case is also presented.- - - - - - - - - - ranking = 6keywords = meningocele (Clic here for more details about this article) |
6/30. Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature.OBJECTIVES: To present the prenatal diagnosis of complete trisomy 9 and to review the literature CASE: A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free beta-human chorionic gonadotrophin (MSfreebeta-hCG) level. RESULTS: Genetic amniocentesis revealed a karyotype of 47,XX, 9 in the amniocytes and an elevated amniotic fluid AFP level. ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX, 9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete trisomy 9 resulting from a meiotic I nondisjunction error of maternal origin. CONCLUSION: Complete trisomy 9 can be identified prenatally with advanced maternal age, sonographically detected fetal structural abnormalities, and abnormal maternal serum screen results. Fetuses with complete trisomy 9 may be associated with congenital diaphragmatic hernia, an open sacral spina bifida, elevated MSAFP, and low MSfreebeta-hCG. We suggest detailed prenatal imaging investigations and genetic analyses of multiple fetal tissues when a prenatal diagnosis of trisomy 9 is made.- - - - - - - - - - ranking = 1keywords = meningocele (Clic here for more details about this article) |
7/30. Spinal congenital dermal sinus associated with upper thoracic meningocele. Case Report.The congenital dermal sinus is an abnormal epithelium-lined sinus tract between the skin surface and deeper tissues. It occurs during neurulation when the neural groove closes to form the neural tube on Day 26 of gestation and results from a failure of neuroectoderm to separate from the cutaneous ectoderm. The most frequent location is the lumbosacral area; an upper thoracic location is quite rare. This 37-year-old man presented with headache and numbness in both arms. No specific neurological findings were observed. physical examination revealed a dimple at T-2. radiography and magnetic resonance imaging of the thoracic spine revealed spina bifida at T1-3, a meningocele, and a dermal sinus tract complex. The treatment approach and outcome in this unusual case are presented.- - - - - - - - - - ranking = 5keywords = meningocele (Clic here for more details about this article) |
8/30. Treatment of refractory intracranial hypertension in a spina bifida patient by a concurrent ventricular and cisterna magna-to-peritoneal shunt.CASE REPORT: A 20-year-old female born with a thoracic level myelomeningocele, Chiari II malformation, and hydrocephalus treated at birth developed clinical features of increased intracranial pressure (ICP) due to shunt malfunction. The patient became comatose. Her ICP remained high despite a functioning shunt and even after the ventricular catheter was exteriorized. diagnostic imaging consistently demonstrated slit-like ventricles, a Chiari II malformation, and a tethered spinal cord. We attributed her neurological condition either to brainstem compression or increased ICP related to venous outlet obstruction at the foramen magnum. OUTCOME: The patient improved rapidly after undergoing a Chiari II decompression and placement of a shunt from the cisterna magna and upper cervical subarachnoid space to the peritoneum connected by a "Y" connector to the ventricular catheter. CONCLUSION: The complex hydrocephalus was effectively treated by this concurrent ventricular and cisterna magna-to-peritoneum shunt.- - - - - - - - - - ranking = 1keywords = meningocele (Clic here for more details about this article) |
9/30. Occult spinal dysraphism and Pacinian hamartomas.CASES: The authors report two patients with occult spinal dysraphism who, following histological analysis, were found to harbor associated Pacinian hamartomas. One patient's hamartoma was found in conjunction with their lipomyelomeningocele and the other was combined with a presacral myxopapillary ependymoma associated with a fatty filum terminale. DISCUSSION AND CONCLUSION: We review the literature and believe this to be only the third report of Pacinian hamartomas in association with occult spinal dysraphism. Although Pacinian hamartomas are seemingly rare in conjunction with occult spinal dysraphism, mesodermal elements are often found in this disease entity.- - - - - - - - - - ranking = 1keywords = meningocele (Clic here for more details about this article) |
10/30. Split notochord syndrome variant: prenatal findings and neonatal management.Spilt notochord syndrome is an extremely rare form of spinal dysraphism characterized by a complete cleft of the spine and a persistent communication between endoderm and ectoderm. A variant of split notochord syndrome was diagnosed in a 25-week-old fetus showing a prolapsed congenital colostomy and a spinal cystic lesion. The final diagnosis included protruding colon segment, imperforate anus with a rectourethral fistula and lipomyelomeningocele. The ultrasound features of the condition and the post-natal management are discussed. The neonate was successfully treated with a posterior sagittal anorectoplasty, while the lipomyelomeningocele was resected at a later stage.- - - - - - - - - - ranking = 2keywords = meningocele (Clic here for more details about this article) |
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