1/32. Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses.We report on two sib fetuses, products of a consanguineous union, who had multiple and apparently unrelated malformations. The first fetus, a female, had trilobed lungs, a single cardiac ventricle, asplenia, situs ambiguus of the liver, and a lumbosacral meningomyelocele. The brain of this fetus was normal. The second fetus, a male, had bilobed lungs, a single cardiac ventricle, situs solitus of the abdominal organs and spleen, and a semilobar holoprosencephaly. The occurrence of these malformations in sibs of different sexes and the parental consanguinity suggest a recessive mutation in a gene responsible for both heterotaxy and midline defects, including holoprosencephaly.- - - - - - - - - - ranking = 1keywords = meningomyelocele (Clic here for more details about this article) |
2/32. Extraspinal dural arteriovenous fistula in a patient with lipomyelodysplasia: value of MRI and MRA.Spinal dural arteriovenous fistulae are extremely rare in spinal dysraphism. A fistulous malformation within a lipomyelomeningocele has not been reported previously. A 50-year-old man presented with progressive paraparesis and bladder dysfunction. MRI revealed a large lumbar lipomyelomeningocele. A vascular malformation was indicated by abnormal signal in the thoracolumbar spinal cord and dilated perimedullary veins. Phase-contrast MRA demonstrated only the slow-flow veins of the fistula and an intradural ascending vein. Contrast-enhanced ultra-fast MRA gave excellent delineation of all parts of the fistula within the dysraphic lesion.- - - - - - - - - - ranking = 4.4288447558065keywords = myelomeningocele (Clic here for more details about this article) |
3/32. neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34.neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q- syndrome and NTDs is poorly understood. We present a child with a 13q deletion and lumbosacral myelomeningocele. This was a boy with microcephaly, telecanthus, minor facial anomalies, and ambiguous genitalia. Cytogenetic and fluorescence in situ hybridization analysis showed a de novo 46,XY,del(13)(q33.2-->qter) with no visible translocation. By using microsatellite markers, the deletion breakpoint was mapped to a 350-kb region between D13S274 and D13S1311 and was paternal in origin. An analysis of 13q deletions with NTDs, including the present case, suggests that a deletion in 13q33-34 is sufficient to cause an NTD. The deletions associated with NTDs are distal to and nonoverlapping with the previously defined critical region in 13q32 for the major malformation syndrome [Brown et al., 1999: Am J Hum Genet 57: 859-866]. Our analysis also suggests that one or more genes in 13q33-34 produces NTDs by haploinsufficiency.- - - - - - - - - - ranking = 2.2144223779032keywords = myelomeningocele (Clic here for more details about this article) |
4/32. Spinal arachnoid cyst without neural tube defect.Symptomatic arachnoid cysts of the spine are rare lesions in the pediatric age group. Although most commonly occurring in association with neural tube defects, such as myelomeningocele and diastematomyelia, in some cases the cysts appear in children without spinal anomalies. We describe a 12-month-old girl with lumbar intradural arachnoid cyst with progressive weakness of the lower limbs. There was full recovery after fenestration of the cyst.- - - - - - - - - - ranking = 2.2144223779032keywords = myelomeningocele (Clic here for more details about this article) |
5/32. Evaluating congenital spine deformities for intraspinal anomalies with magnetic resonance imaging.SUMMARY: The incidence of intraspinal abnormalities associated with congenital spinal anomalies as detected by magnetic resonance imaging (MRI) is becoming better defined. In this study, 41 nonrandomized children with congenital spinal deformities (excluding myelomeningocele) who underwent complete MR evaluation were reviewed. Of the 41 congenital spinal deformities, 37 demonstrated congenital scoliosis, with failure of formation in 19, failure of segmentation in 4, and mixed defects in 14. The remaining four deformities were cases of congenital kyphosis. Thirteen patients with congenital spine anomalies were noted to have intraspinal abnormalities identified by MRI: tethered cord in 12 patients, syringomyelia in 3 patients, and diastematomyelia in 5 patients. Of the 12 patients with tethered cord, 2 patients had neurologic deficits. Urorectal anomaly was one of the most common associated findings (15%). Considering an incidence of intraspinal anomalies of 31% and as clinical manifestations may not be initially detectable, MRI is recommended in patients with congenital spinal deformity as part of the initial evaluation even in the absence of clinical findings.- - - - - - - - - - ranking = 2.2144223779032keywords = myelomeningocele (Clic here for more details about this article) |
6/32. Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with down syndrome and neural tube defect.The association of neural tube defects (NTDs) with down syndrome (trisomy 21) and altered folate metabolism in both mother and affected offspring provide a unique opportunity for insight into the etiologic role of folate deficiency in these congenital anomalies. We describe here the case of a male child with trisomy 21, cervical meningomyelocele, agenesis of corpus callosum, hydrocephaly, cerebellar herniation into the foramen magnum, and shallow posterior cranial fossa. Molecular analysis of the methylenetetrahydrofolate (MTHFR) gene revealed homozygosity for the mutant 677C-->T polymorphism in both the mother and child. The plasma homocysteine of the mother was highly elevated at 25.0 micromol/L and was associated with a low methionine level of 22.1 micromol/L. Her s-adenosylhomocysteine (SAH) level was three times that of reference normal women, resulting in a markedly reduced ratio of s-adenosylmethionine (SAM) to SAH and significant dna hypomethylation in lymphocytes. The child had low plasma levels of both homocysteine and methionine and a reduced SAM/SAH ratio that was also associated with lymphocyte dna hypomethylation. In addition, the child had a five-fold increase in cystathionine level relative to normal children, consistent with over-expression of the cystathionine beta synthase gene present on chromosome 21. We suggest that altered folate status plus homozygous mutation in the MTHFR gene in the mother could promote chromosomal instability and meiotic non-disjunction resulting in trisomy 21. Altered folate status and homozygous TT mutation in the MTHFR gene in both mother and child would be expected to increase the risk of neural tube defects. The presence of both trisomy 21 and postclosure NTD in the same child supports the need for an extended periconceptional period of maternal folate supplementation to achieve greater preventive effects for both NTD and trisomy 21.- - - - - - - - - - ranking = 1keywords = meningomyelocele (Clic here for more details about this article) |
7/32. Diastematomyelia associated with ectopic dysplastic renal tissue--report of a rare case.BACKGROUND: Presence of heterotopic dysplastic renal tissue in the lumbosacral region is an extremely uncommon condition. CASE REPORT: We report the first case of diastematomyelia associated with ectopic renal tissue. A 10-month-old male child presented with lipomeningomyelocele associated with spina bifida in the lumbosacral region, and the lipoma was excised. Imaging of the spine at 5 years of age showed spina bifida, bony diastematomyelia, lipomeningomyelocele and a small intraspinal cystic lesion. The boy was then operated upon at the age of 5 years, and histopathological examination of the cystic lesion revealed ectopic dysplastic renal tissue.- - - - - - - - - - ranking = 2keywords = meningomyelocele (Clic here for more details about this article) |
8/32. Lateral sacral lipomyelomeningocele : a rare anomaly.Lateral sacral lipomyelomeningocele is a rare spinal developmental anomaly. In the case under report, the fat attached to the neural placode was blending with the gluteal fat externally. The cord was tethered at this level. Multiple bony anomalies and diastematomyelia were associated findings. A case of lateral sacral lipomyelomeningocele with excellent imaging detail provided by the multiplanar magnetic resonance (MR) scan is reported.- - - - - - - - - - ranking = 13.286534267419keywords = myelomeningocele (Clic here for more details about this article) |
9/32. Thoracolumbar teratoma associated with meningomyelocele: common aetiology or coincidence?INTRODUCTION: The association of teratoma and neural tube defects is very rare. CASE REPORT AND DISCUSSION: A case of teratoma resembling bowel within a meningomyelocele is presented and the literature reviewed. CONCLUSION: The hypotheses of a possible common aetiology for this association include a single dysembryogenic process and neoplastic transformation of heterotopic primordial elements incorporated in the defect.- - - - - - - - - - ranking = 5keywords = meningomyelocele (Clic here for more details about this article) |
10/32. Kousseff syndrome caused by deletion of chromosome 22q11-13.Kousseff syndrome was originally described by Boris Kousseff in 1984: pediatrics 74:395-398 in three siblings whose main features were conotruncal heart defects, neural tube defects, and dysmorphic features. The proband is a white male who has spina bifida, shunted hydrocephalus, cleft palate, short stature, cognitive impairment, and the typical craniofacial features of velo-cardio-facial syndrome (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia. The family history is significant for a brother who died at 2 weeks of age with myelomeningocele, hydrocephalus, transposition of the great vessels, and unilateral renal agenesis, and a sister who died at 11 days of age with myelomeningocele, truncus arteriosus, hypocalcemia, and autopsy findings of absent thymus and parathyroid glands, consistent with DiGeorge anomaly. Given the clinical findings, family history, and recent knowledge that open neural tube defects can occur in VCFS/DiGeorge anomaly, FISH analysis for 22q11-13 deletion was performed on the proband. A deletion was detected in him and subsequently confirmed in his father. Molecular analysis on autopsy material confirmed the deletion in the proband's deceased brother. We suggest that individuals with neural tube defects associated with other anomalies such as congenital heart defects or cleft palate be evaluated for 22q deletions.- - - - - - - - - - ranking = 4.4288447558065keywords = myelomeningocele (Clic here for more details about this article) |
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