1/109. cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review.cleidocranial dysplasia (CCD), an uncommon disorder involving membranous bones, is rarely lethal in early life. The calvaria is defective and wormian bones are present. Abnormalities of the clavicles vary in severity from a minor unilateral defect to bilateral absence. This report concerns pre- and postmortem anatomical and radiological findings in a 15-day-old female neonate with CCD. Her postnatal course was characterized by seizures and recognition of hydrocephalus during the first day of life. The calvaria was hypoplastic with numerous wormian bones. A pseudofracture of the right clavicle was present. hydrocephalus was present in the brachycephalic brain which had a severely thinned cerebral cortex. hemosiderin in the ventricular lining and marked subependymal gliosis were interpreted as evidence of old intraventricular hemorrhage that had occurred in utero. A CCD-related condition, Yunis-Varon syndrome (YVS), is noted for early lethality and for developmental and secondary abnormalities of the central nervous system. The present case only partially matches the phenotype of YVS and might represent a part of a spectrum of phenotypic variants ranging from viable CCD to lethal YVS.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/109. hydrocephalus associated with glycogen storage disease type ii (Pompe's disease).The authors describe a case of hydrocephalus in an 8-month, 2-week-old infant who had been previously diagnosed with glycogen storage disease type ii. Cranial imaging revealed no evidence of obstruction within the ventricular system. This case adds to the central nervous system complications associated with this disorder. Several possible mechanisms for the hydrocephalus observed in this infant are discussed.- - - - - - - - - - ranking = 0.2keywords = nervous system (Clic here for more details about this article) |
3/109. recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family.This report concerns two sibs from a consanguineous Sudanese family with microgastria-limb reduction defect associated with hydrocephalus and agenesis of corpus callosum. We suggest that these cases together with other previously reported cases of central nervous system (CNS) anomalies associated with microgastria-limb reduction defect could represent an autosomal recessive syndrome differing from the classical microgastria-limb reduction defect by its severity, presence of CNS anomalies and its pattern of inheritance.- - - - - - - - - - ranking = 0.2keywords = nervous system (Clic here for more details about this article) |
4/109. Spontaneous epidural hematoma following a shunt in an infant with congenital factor x deficiency. Case report and literature review.The authors describe a case of an infant with congenital factor x deficiency. The patient presented with a central nervous system hemorrhage followed by hydrocephalus. He underwent a ventriculoperitoneal shunt and, during the postoperative period, developed a spontaneous epidural hematoma, which was evacuated. The clinical and pathophysiological aspects of this case are discussed based on a literature review.- - - - - - - - - - ranking = 0.2keywords = nervous system (Clic here for more details about this article) |
5/109. Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene. L1 plays a key role in axon outgrowth and pathfinding during the development of the nervous system. We describe the case of a boy from the united arab emirates who presented with CRASH syndrome. Scanning the L1 gene of the patient resulted in the discovery of a novel missense mutation: transition of a G (guanine) to T (thymine) at position 604 (G604-->T), which results in conversion of aspartic acid to tyrosine at position 202 (D202Y) of the L1 protein. It is very likely that the cerebral dysgenesis is due to the abnormal structure and function of L1.- - - - - - - - - - ranking = 0.2keywords = nervous system (Clic here for more details about this article) |
6/109. Benign melanocytic tumor in infancy: discussion on a rare case and review of the literature.Meningeal melanocytoma is an infrequent neoplasm of the central nervous system (CNS), especially in childhood and infancy. It was first described as an entity different from pigmented meningiomas and schwannomas in 1972, and few cases have been published so far. In this article, a 5-month-old male patient with meningeal melanocytoma is presented. This midline lesion was localized in the posterior fossa and manifested by hydrocephalus. The entire dural origin and extradural growing pattern in addition to the destruction of the adjacent occipital bone were the unexpected presentations since these tumors usually tend to locate on leptomeninges and to extend into the adjacent neural compartment rather than the outside. On the other hand, this case is the only one which had identical lesions in both surrenal glands and the left renal capsule, the structures containing neural-crest-derived cells outside the CNS. The prognostic criteria, differential diagnosis and its embryological aspects are discussed with an extensive review of the related existing literature.- - - - - - - - - - ranking = 0.2keywords = nervous system (Clic here for more details about this article) |
7/109. Treatment of a vancomycin-resistant enterococcus faecium ventricular drain infection with quinupristin/dalfopristin and review of the literature.central nervous system infections involving vancomycin-resistant enterococcus faecium (VREF) are infrequently described and pose significant therapeutic difficulties, because these organisms are intrinsically resistant to many antibiotics. We describe the use of intrathecal quinupristin/dalfopristin to treat a VREF-associated infection in a neuro--surgical patient.- - - - - - - - - - ranking = 0.2keywords = nervous system (Clic here for more details about this article) |
8/109. Interhemispheric glioependymal cyst associated with agenesis of the corpus callosum--case report.A male neonate was admitted because prenatal ultrasonography indicated central nervous system abnormalities. Neurological examination showed no abnormality except for electroencephalographic spike activities. magnetic resonance imaging revealed a cystic lesion in the left interhemispheric fissure, agenesis of the corpus callosum, and microgyria in the left frontotemporal lobes. Cerebral blood flow (CBF) was diffusely reduced. The cyst wall was partially removed and a cyst-peritoneal shunt procedure was performed. The histological diagnosis was glioependymal cyst. The spike activity disappeared and CBF dramatically improved after the operation.- - - - - - - - - - ranking = 0.2keywords = nervous system (Clic here for more details about this article) |
9/109. Neurocutaneous melanosis associated with Dandy-Walker malformation. case report and review of the literature.Neurocutaneous melanosis is a rare dysmorphogenesis associated with single or multiple giant pigmented cutaneous nevi and diffuse involvement of the leptomeninges anywhere in the central nervous system (CNS). It is interesting that almost 8-10% of patients had associated Dandy-Walker malformation in the literature, suggesting a common origin of the developmental abnormalities. In this article, we present a 2-year-old patient with neurocutaneous melanosis associated with Dandy-Walker malformation. We reviewed the literature and discuss the pathogenesis based on the preferred hypotheses so far.- - - - - - - - - - ranking = 0.2keywords = nervous system (Clic here for more details about this article) |
10/109. Infection of central nervous system by motile Enterococcus: first case report.A 66-year-old man with four indwelling ventriculoperitoneal shunts for multiloculated hydrocephalus from a complicated case of meningitis a year before developed shunt infection based on a syndrome of fever, drowsiness, and cerebrospinal fluid neutrophil pleocytosis in the background of repeated surgical manipulation to relieve successive shunt blockages. The cerebrospinal fluid culture, which yielded a motile Enterococcus species, was believed to originate from the gut. This isolate was lost in storage and could not be characterized further. The patient improved with vancomycin and high-dose ampicillin therapy. He relapsed a month later with Enterococcus gallinarum shunt infection, which responded to high-dose ampicillin and gentamicin therapy. This is probably the first case report of motile Enterococcus infection of the central nervous system.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
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