1/37. 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 = 1keywords = brain (Clic here for more details about this article) |
2/37. 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 = 12.439422946698keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
3/37. 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 = 10.439422946698keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/37. 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 = 1keywords = brain (Clic here for more details about this article) |
5/37. prenatal diagnosis of a fetus with lumbar myelocystocele.We present a case of a fetal lumbar myelocystocele, a rare congenital malformation, characterized by herniation of the central canal through a bony spina bifida. Routine ultrasound examination at 11 weeks' gestation by the primary obstetrician showed a suspicious cyst on the fetal back. Initially, the suspected diagnosis was a meningocele. After sonographic detection of newly developed fetal brain anomalies at 22 weeks' gestation the patient was referred to us. The enlarged cyst, which floated freely in the amniotic fluid, had a funnel-like appearance and was covered by a very thin layer of skin. With the help of ultrafast fetal magnetic resonance imaging the diagnosis of a fetal myelocystocele was made.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
6/37. Vanishing cerebellum in myelomeningocoele.Reduced hindbrain herniation observed after intrauterine myelomeningocoele repair suggests that posterior fossa changes in myelomeningocoele are secondary results of prolonged prenatal spinal cerebrospinal fluid leak. Exceptionally, this transforaminal herniation results in 'degeneration' of cerebellar tissue, presumably due to mechanically induced ischaemia. This phenomenon was called 'vanishing cerebellum in Chiari II malformation'. We report three similar cases of this apparently rare finding. Pregnancies were normal. Cerebellar hypoplasia was already recognized in one instance by prenatal ultrasound at gestational week 25. Postnatal imaging was similar in all three patients showing small posterior fossa, beaked midbrain tectum, small brainstem without pontine prominence, reduced cerebellar tissue with virtual absence of one hemisphere and supratentorial hydrocephalus. Our series is too small to draw firm conclusions about predisposing risk factors for and consequences of vanishing cerebellum. Cerebellar damage can interfere with cognitive development, as shown in children with cerebellar agenesis/ hypoplasia, congenital ataxia and small cerebellum following prematurity. A final conclusion on the cognitive consequence of vanishing cerebellum cannot be drawn on the available literature and our limited observations, as one of our patients died at 3 months and another is still too young for appropriate testing. However, the third (aged 15 years) is very severely retarded.- - - - - - - - - - ranking = 3keywords = brain (Clic here for more details about this article) |
7/37. The split notochord syndrome with dorsal enteric fistula.The authors describe a new case of the split notochord syndrome (SNS) with dorsal enteric fistula in an eight-month-old-boy. The child had also central nervous system anomalies including dysgenetic corpus callosum, absence of septum pellucidum, triventricular hydrocephalus, small posterior fossa, and lipomyelomeningocele, gastrointestinal system anomalies such as malrotation, wandering spleen, and right inguinal hernia. The clinical features, embryogenesis, and literature were reviewed briefly.- - - - - - - - - - ranking = 10.439422946698keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/37. An unusual neurogenic cystic tumor.The presacral cystic teratoma in an infant is reported. The cyst consisted solely of central nervous system tissue. This pathologic finding is extremely rare. A review of the literature reveals no previous report of a teratoma arising in this manner.- - - - - - - - - - ranking = 10.439422946698keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/37. Frontal foramina, Chiari II malformation, and hydrocephalus in a female.Reported is a 4-year-old female with Chiari II malformation and congenital hydrocephalus associated with lumbosacral myelomeningocele who also presented with frontal calvarial foramina depicted by head computed tomographic scans with three-dimensional reconstructions. Magnetic resonance demonstrated bilateral and symmetric frontal lobe malformation-separated-lip clefts schizencephaly-adjacent to the bilateral frontal calvarial foramina. Because the different types of malformations evident in this patient do not share the same developmental origin, the association of findings is unusual and suggests the occurrence of an unknown prenatal factor acting along different stages of central nervous system development.- - - - - - - - - - ranking = 10.439422946698keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/37. Serial neuropsychological assessment and evidence of shunt malfunction in spina bifida: a longitudinal case study.Myelomeningocele is often accompanied by hydrocephalus (MMH), making it a potentially unstable neurological condition requiring shunt placement and possible revisions. Serial neuropsychological assessment is an important tool in monitoring children with MMH, as cognitive changes can indicate shunt malfunction and hydrocephalus. We present the case of a girl with MMH who had five neuropsychological assessments (ages 5, 7, 11, 12, and 14). Despite a lack of overt neurological symptoms or report of behavioral decline, testing at age 11 revealed decline in multiple neurobehavioral domains, and imaging at that time showed increased hydrocephalus, requiring shunt revision. Subsequent neuropsychological assessment conducted after a 2-year period of medical stability showed improvement and/or a return to baseline levels in some skill areas (i.e., working memory, verbal memory, visuomotor integration, and sustained attention), yet more lasting impairments in others (i.e., Verbal IQ, processing speed, organization, and response inhibition). These lasting cognitive deficits potentially impact independent completion of complex medical self-care tasks. This pattern of recovery highlights vulnerability of brain systems supporting executive functions in children with hydrocephalus and shunt failure.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
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