1/92. A case of cerebrospinal fluid eosinophilia associated with shunt malfunction.A 3-month-old female patient presented with a meningomyelocele at the lumber region associated with congenital hydrocephalus. She underwent ventriculoperitoneal (V-P) shunt surgery using the Sophy system. The shunt system was replaced due to a malformation. Following replacement, the patient presented with cerebrospinal fluid (CSF) eosinophilia at the age of 8 months. The eosinophilic granulocytosis of the CSF improved dramatically following systemic prednisolone administration. CSF eosinophilia without accompanying inflammation or pyrexia in the present case may have resulted from an allergic response to a foreign material such as the silicone tube pressure valve of the Sophy system or the sutures rather than bacterial or fungal infection. Based on our results, we believe that some patients may experience CSF eosinophilia following postoperative V-P shunt due to an allergic reaction to the shunt equipment. Prompt steroid treatment can produce spontaneous regression in such cases.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/92. The Chiari II malformation: lesions discovered within the fourth ventricle.Structural lesions associated with the Chiari II malformation have been identified within the fourth ventricle in 8 patients. During the 42-month period encompassing the operations of the 7 patients treated surgically, only 9 other patients were explored without the discovery of some associated structural lesion. The patients ranged in age from 2 to 26 years. The following lesions were identified: glial or arachnoidal cysts (3 patients), glial or choroidal nodules (3 patients) and subependymoma (2 patients). These lesions were all situated in the roof of the fourth ventricle adjacent to or interspersed with the choroid plexus. Only the cystic lesions were identified by preoperative imaging. In only 1 case did the associated lesion, a 2-cm cyst, seem to contribute to the patient's clinical presentation. Structural lesions of the fourth ventricle associated with the Chiari II malformation are common in patients who are submitted to decompression. These lesions may be dysplasias of developmental origin, or they may be reactive lesions related to chronic compression and ischemia. They do not necessarily required biopsy or excision.- - - - - - - - - - ranking = 6keywords = malformation (Clic here for more details about this article) |
3/92. Segmental costovertebral malformations: association with neural tube defects. Report of 3 cases and review of the literature.patients with spondylocostal dysostosis (SCD) have vertebral abnormalities and numerical or structural rib anomalies that produce thoracic asymmetry. Rib anomalies and dysmorphism are the typical features that differentiate this syndrome from spondylothoracic dysostosis (STD). Jarcho-Levin syndrome is a severe form with involvement of the whole vertebral column. Other associated findings such as congenital heart defects, abdominal wall malformations, genitourinary malformations and upper limb anomalies may be found; in addition, neural tube defects (NTDs) have been associated with this malformation. SCD is transmitted both in a recessive form and as a dominant defect. We report on 3 children with SCD; 2 also had NTDs. All of them were studied with x-rays and spinal magnetic resonance (MR), and over the same period they underwent multidisciplinary clinical functional evaluation. One of our cases with NTD also presented polythelia, which has not previously been described in patients with SCD. The common association of segmental costovertebral malformations with NTDs could be related to an early gastrulation genomic defect, or one after gastrulation, when there are two independent somitic columns. The latter sometimes progresses and then involves primary and secondary neurulation. Also, the association of SCD with NTDs could be related to the interaction of different genes, resulting in this complex phenotype. Therefore, additional genetical and embryological studies are necessary to provide evidence of an etiological link between SCD and NTD.- - - - - - - - - - ranking = 8keywords = malformation (Clic here for more details about this article) |
4/92. Coexistent holoprosencephaly and Chiari II malformation.Chiari II malformations and holoprosencephaly have been considered to be brain malformations that differ with respect to teratogenic insult, embryologic mechanism, and morphology. We herein describe coexistent Chiari II malformation and holoprosencephaly that occurred in a viable infant. A review of the literature regarding Chiari II malformations and holoprosencephaly suggests that a disturbance to the mesenchyme in early embryologic life may be the cause of both malformations.- - - - - - - - - - ranking = 9keywords = malformation (Clic here for more details about this article) |
5/92. Anomalous ependyma inducing split cord and meningomyelocele?The case is that of a female fetus of 17 to 18 weeks' gestation with major defects of the central nervous system: (1) The thoracic vertebrae demonstrated rachischisis, with segmental diplomyelia; the duplicated cords were dissimilar in size and lay side by side within a single meningeal sheath lacking a dividing septum or spur. Cranially to the divided cord lay an unsplit segment of "open cord" lacking the posterior elements and exposing the centrally placed ependyma of the central canal flanked by glial and epidermal lining, respectively; it could be regarded as an example of a meningomyelocele. (2) Heterotopic massed ependymal cells, some of which were actively proliferating, were associated with the choroid plexus in the brain. Minor anomalies included cerebellar heterotopia and the malpositioning of dorsal root ganglia outside the meningeal sheath. Because the ependyma is such a powerful inducer of the development of neighboring tissue, the findings could be united by a common pathogenic theme, viz problematic ependymal development and migration within both the brain and spinal cord. The causative agent responsible for these abnormalities remains unidentified, but the balance of evidence suggests that its effect was felt during the second week of postconceptual age.- - - - - - - - - - ranking = 0.031222671033354keywords = nervous system (Clic here for more details about this article) |
6/92. Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies.A large Filipino-American family with progressive matrilineal hearing loss, premature graying, depigmented patches, and digital anomalies was ascertained through a survey of a spina bifida clinic for neural crest disorders. deafness followed a matrilineal pattern of inheritance and was associated with the A1555G mutation in the 12S rRNA gene (MTRNR1) in affected individuals as well as unaffected maternal relatives. Several other malformations were found in carriers of the mutation. The proband had a myelocystocele, Arnold-Chiari type I malformation, cloacal exstrophy, and severe early-onset hearing loss. Several family members had premature graying, white forelock, congenital leukoderma with or without telecanthus, somewhat suggestive of a waardenburg syndrome variant. In addition to the patient with myelocystocele, two individuals had scoliosis and one had segmentation defects of spinal vertebrae. The syndromic characteristics reported here are novel for the mitochondrial A1555G substitution, and may result from dysfunction of mitochondrial genes during early development. However, the mitochondrial A1555G mutation is only rarely associated with neural tube defects as it was not found in a screen of 218 additional individuals with spina bifida, four of whom had congenital hearing loss.- - - - - - - - - - ranking = 2keywords = malformation (Clic here for more details about this article) |
7/92. Combined anomaly of intramedullary arteriovenous malformation and lipomyelomeningocele.We report a rare situation in which a lipomyelomeningocele and an intramedullary arteriovenous malformation (AVM) occurred together at the T11-L1 level in a 44-year-old man. MR images showed a hypervascular lesion intradurally and a fatty component extradurally. Spinal angiography revealed this lesion to be an intramedullary AVM with multiple feeding arteries from the right T12 and left T10 intercostal artery and the left L1 lumbar artery, drained by tortuous, dilated, perimedullary veins.- - - - - - - - - - ranking = 5keywords = malformation (Clic here for more details about this article) |
8/92. Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.A fetus with lobar holoprosencephaly and lumbosacral meningomyelocele associated with duplication of the short arm of chromosome 3 is reported. The anomalies were detected on fetal ultrasound at 20 weeks' gestation and the autopsy findings correlated well with the prenatal findings. The fetal karyotype was 46,XY,der(3)del(3)(p26) dup(3)(p26p21.3). The association of holoprosencephaly with duplication 3p is well known, but to the best of our knowledge this is the first reported association of meningomyelocele with 3p duplication. These findings suggest that a gene or genes with a crucial role in central nervous system development are located on the short arm of chromosome 3.- - - - - - - - - - ranking = 0.031222671033354keywords = nervous system (Clic here for more details about this article) |
9/92. 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 = 1keywords = malformation (Clic here for more details about this article) |
10/92. Prepontine lesions with chiari II malformation. Report of two cases.In 2 cases of infants with the Chiari II malformation, a prepontine cyst presented in association with the hindbrain abnormalities characteristic of the Chiari II syndrome. Both infants presented with bulbar dysfunction and had poor outcome despite decompression of the cerebellar tonsillar herniation and drainage of the prepontine cysts. No such association between prepontine lesions and Chiari II has been described previously.- - - - - - - - - - ranking = 5keywords = malformation (Clic here for more details about this article) |
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