Transalar encephalocele associated with Wegener granulomatosis and meningeal enhancement: case report.
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Transalar encephaloceles are rare lesions that do not fit the standard classification of basal encephaloceles. Typically, these lesions present in adulthood, with nonspecific symptoms. We report here a case of a patient with Wegener disease in whom a large transalar encephalocele posterior to the sinus was noted when he was preoperative for left maxillary sinus surgery. The encephalocele demonstrated irregular peripheral enhancement along the margin--a very uncommon finding--as well as contrast enhancement of the basal meninges, which can be seen occasionally with Wegener granulomatosis. (+info)
The achiasmia spectrum: congenitally reduced chiasmal decussation.
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AIM: To describe the clinical spectrum of achiasmia, a congenital disorder of reduced relative decussation at the optic chiasm. METHODS: A retrospective case note and patient review of nine children (four boys). Achiasmia was defined by the combination of a characteristic asymmetry of the monocular visual evoked potential (VEP) response to flash and neuroimaging showing reduced chiasmal size. RESULTS: Three of the children had an associated skull base encephalocele with agenesis of the corpus callosum. In two patients achiasmia was associated with septo-optic dysplasia. Three patients had no neuroimaging abnormalities other than reduced chiasmal size and have no known pituitary dysfunction. One child had multiple physical deformities but the only brain imaging abnormality was reduced chiasmal size. CONCLUSIONS: Some children with disorders of midline central nervous system development, including septo-optic dysplasia and skull base encephaloceles, have congenitally reduced chiasmal decussation. Reduced relative decussation may co-exist with overall chiasmal hypoplasia. Children with an apparently isolated chiasmal decussation deficit may have other subtle neurological findings, but our clinical impression is that most of these children function well. (+info)
Diagnostic approach to recurrent bacterial meningitis in children.
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Recurrence of bacterial meningitis in children is not only potentially life-threatening, but also involves or induces psychological trauma to the patients through repeated hospitalization and multiple invasive investigations if the underlying cause remains undetected. Bacteria migration, along congenital or acquired pathways from the skull or spinal dural defects, gains entrance into the central nervous system (CNS) and should be taken into consideration when children face recurrent bacterial meningitis, however, symptoms and signs of cerebrospinal fluid (CSF) rhinorrhea or otorrhea are rare in such patients. Without evidence of CSF leakage, a cranial symptom/sign or coccygeal cutaneous stigmata may suggest the approximate lesion site, diagnosis and detection remains difficult. To detect an occult dural lesion along the craniospinal axis, such as basal encephalocele, dermal sinus tract, or neurenteric cyst, a detailed clinical evaluation and the use of the modern diagnostic imaging methods is necessary. Because of the possibility of concomitant occurrence of more than one malformation, both the frontal and the lateral skull base should be carefully evaluated. Precise localization of the dural lesion is a prerequisite for successful surgical repair. In addition, the bacteria specificity could leave significant clues: Pneumoccocus or Hemophilus suggests cranial dural defects, E. coli or other gram negative bacilli suggests spinal dural defects, and meningococci suggest immunologic deficiency. Asplenia or immunodeficiency such as complement or immunoglobulin deficiency rarely causes recurrent meningitis without a history of frequent infection of non-CNS areas. Salmonella meningitis or brain abscess should not be treated incompletely or inadequately and could lead to recrudescence, relapse or recurrence of bacterial meningitis. Antibiotic (penicillin or trimethoprim-sulfamethoxazole) induced meningitis may repetitively occur on occasion. (+info)
CSF Rhinorrhea and recurrent meningitis caused by transethmoidal meningoencephaloceles.
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We report two children presenting with intermittent CSF rhinorrhea and recurrent meningitis. CT scan showed transethmoidal meningoencephalocele. (+info)
Frontoethmoidal meningoencephalocele: a common and severe congenital abnormality in South East Asia.
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The clinical features of 23 cases of fronto-ethmoidal meningoencephalocele are described in two South East Asian populations. The clinical, embryological, and epidemiological evidence may support an early teratogenic insult in the aetiology of this congenital defect. (+info)
Meckel-Gruber syndrome: sonography and pathology.
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OBJECTIVE: To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Gruber syndrome (MGS). METHODS: This was a retrospective analysis of 30 cases, collected from five centers, with ultrasound features suggestive of MGS. Only fetuses with a confirmed diagnosis of MGS were finally included. Analysis included a detailed evaluation of the sonographic findings and comparison with pathological follow-up. RESULTS: Seventeen cases met the pathological criteria for a diagnosis of MGS and were included in the study. In all cases, a typical sonographic pattern was seen: the kidneys were enlarged (mean, + 4.8 SD) and showed unusual corticomedullary differentiation, occurring as early as the first trimester. In most cases, the medullary areas appeared excessively large and mottled due to the presence of multiple small cysts. CONCLUSIONS: The kidneys of fetuses with MGS are enlarged, cystic and have unusual corticomedullary differentiation. These features can be observed as early as the first and early second trimesters. (+info)
Survival of infants with neural tube defects in the presence of folic acid fortification.
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OBJECTIVE: Neural tube defects (NTDs) are preventable through preconceptional and periconceptional folic acid intake. Although decreases in the prevalence of NTDs have been reported since folic acid fortification of United States grain products began, it is not known whether folic acid plays a role in reducing the severity of occurring NTDs. Our aim was to determine whether survival among infants born with spina bifida and encephalocele has improved since folic acid fortification and to measure the effects of selected maternal, pregnancy, and birth characteristics on first-year (infant) survival rates. METHODS: A retrospective cohort study was conducted and included 2841 infants with spina bifida and 638 infants with encephalocele who were born between 1995 and 2001 and were registered in any of 16 participating birth defects monitoring programs in the United States. First-year survival rates for both spina bifida and encephalocele cohorts were measured with Kaplan-Meier estimation; factors associated with improved chances of first-year survival, including birth before or during folic acid fortification, were measured with Cox proportional-hazards regression analysis. RESULTS: Infants with spina bifida experienced a significantly improved first-year survival rate of 92.1% (adjusted hazard ratio: 0.68; 95% confidence interval: 0.50-0.91) during the period of mandatory folic acid fortification, compared with a 90.3% survival rate for those born before fortification. Infants with encephalocele had a statistically nonsignificant increase in survival rates, ie, 79.1% (adjusted hazard ratio: 0.76; 95% confidence interval: 0.51-1.13) with folic acid fortification, compared with 75.7% for earlier births. CONCLUSIONS: Folic acid may play a role in reducing the severity of NTDs in addition to preventing the occurrence of NTDs. This phenomenon contributes to our understanding of the efficacy of folic acid. Additionally, as survival of NTD-affected infants improves, health care, education, and family support must expand to meet their needs. (+info)
Mutations in collagen 18A1 and their relevance to the human phenotype.
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Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinct isoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression. Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis. In its N-terminal, there is a frizzled motif which seems to be involved in Wnt signaling. Mutations in this gene cause Knobloch syndrome KS), an autosomal recessive disorder characterized by vitreoretinal and macular degeneration and occipital encephalocele. This review discusses the effect of both rare and polymorphic alleles in the human phenotype, showing that deficiency of one of the collagen XVIII isoforms is sufficient to cause KS and that null alleles causing deficiency of all collagen XVIII isoforms are associated with a more severe ocular defect. This review besides illustrating the functional importance of collagen XVIII in eye development and its structure maintenance throughout life, it also shows its role in other tissues and organs, such as nervous system and kidney. (+info)