SEARCH · PubMed Health
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
A case of nasopharyngeal glioma is presented in which the postnatal scans clearly show intracranial communication, whilst subsequent scans and surgical exploration could not demonstrate this finding. This case seems to confirm that the aetiology of these lesions is due to an encephalocele that subsequently loses its connection with the brain.
Meckel-Gruber syndrome (MGS) is a lethal, rare, autosomal recessive condition manifested by clinical and genetical heterogenicity. The syndrome is characterized by the triad: occipital meningo-encephalocele, cystic displastic kidneys and postaxial polidactyly. The diagnosis is suspected by ultrasound and in families at risk of reccurrence of the syndrome it is made in the late first trimester of pregnancy. We present a patient with a previous pregnancy terminated in the second trimester because of ultrasound features for MGS, in whom a correct transvaginal ultrasound diagnosis of the same syndrome was made in 13 w.g. of the present pregnancy.
Fifty-three patients with frontonasal tumors were seen in a 17 -year period. Of these patients, 33 were females (62 percent) and 50 were caucasians (94 percent). The correct diagnosis was made preoperatively in 87 percent of the cases. Eighty-five percent of the patients were children, and most of the lesions (83 percent) were developmental anomalies rather than true neoplasms. The most common lesions were dermoids (17), hemangiomas (16), and encephaloceles (9), but 13 different types of lesions were encountered. The treatment of all is surgical excision, and a cooperative effort by the neurosurgeon and the plastic surgeon is required in some cases.
The sphenoid bone represents a complex structure in terms of anatomy and embryology. Indeed, it is formed by the fusion of different primordia whose embryonic origins are different. In mammals, it is possible to distinguish two components of this bone: the orbitosphenoid and the basi-post-sphenoid derive from the cephalic mesoderm whereas the alisphenoid and the basi-pre-sphenoid are from neural crest cell origin. The genetic control of the development of these two components is different further increasing the heterogeneity of these components. The sphenoid bone has been linked with several developmental diseases: chordomas, tumors arising from notochordal remnants; persistence of the craniopharyngeal canal may result in the occurrence of trans-sphenoidal encephaloceles.
Prenatal ultrasound diagnosed iniencephaly apertus at 21 weeks' gestation. In this rare central nervous system (CNS) malformation the brain and neck show the main pathologies. Retroflexion of the head with exaggerated cervicothoracic lordosis is always present, and CNS malformations in the form of anencephaly, spina bifida and encephalocele are often present. The ultrasonic diagnosis should be based on the finding of extreme dorsiflexion of the head accompanied by an abnormally short and deformed spine.
A six months female infant was admitted in our hospital for congenital dysmorphism of face: a subcutaneous nodule in left nose region was present. An x-ray study showed relevant scoliosis of the nasal septum. On surgery a white firm nodule was incompletely excised; a post-operatory CT-scan excluded any communication of neoplasia with brain. No bone lacunae were seen. Clinically there was neither rhinorrhea nor meningitis. The baby was discharged on 7th day. Grossly the mass presented white surface, firm consistency with small hemorrhages on cut surface. Microscopically the nodule, encircled by a fibrous pseudo-capsule, was mostly composed of gemistocytic astrocytes, occasionally binucleated, interspersed within fibrillary neuroglial tissue. Strands of fibrous tissue, in continuity with the pseudo-capsule, separated the glial tissue. No neuronal cells were seen. Necrosis, mitotic figures and vascular proliferations were absent. GFAP immunohistochemical stain confirmed the glial nature of the cells. Our diagnosis was one of "heterotopic glial tissue of nose" (nasal glioma). The absence of connection between the nodule and endocranial contents (CSF-filled spaces, leptomeningeal or dural tissue), excluded the diagnosis of encephalocele. In our case, the tissue was only of embryonic neuroectodermal derivation: on this basis the diagnosis of teratoma, which is classically composed of two or three embryonic layers could be excluded. The pathogenesis of nasal glioma is briefly discussed by authors.
OBJECTIVE: Case reports of suspected adverse pregnancy outcomes associated with prenatal exposure to angiotensin-converting enzyme inhibitors, particularly oligohydramnios, prolonged neonatal anuria, and defects of ossification of the skull dome, prompted us to examine pregnancy outcome in a large cohort of pregnant women for whom complete drug exposure information was known. METHODS: We studied the prescribed drug exposure histories and pregnancy outcomes of all women aged 15-44 years enrolled in Tennessee Medicaid who delivered a live-born or stillborn infant between January 1, 1983 and December 31, 1988. RESULTS: Of the 106,813 women enrolled in Tennessee Medicaid who delivered either a live-born or stillborn infant during the study period, 19 were exposed to an angiotensin-converting enzyme inhibitor during pregnancy. All 19 women delivered live infants. Among the 19 newborns, one preterm infant had prolonged anuria necessitating dialysis and a second preterm infant had microcephaly and a large occipital encephalocele. CONCLUSIONS: These outcomes represent a systematic follow-up of all angiotensin-converting enzyme inhibitor-exposed pregnancies. Despite the small number of exposures, there were two outcomes previously linked to prenatal use of these drugs, suggesting that the absolute risk may be high. In light of these findings and the case reports of others, it is prudent to avoid the use of angiotensin-converting enzyme inhibitors in pregnancy.
A 32 years old woman, gravida 2 para 1, presented at 27 + 5 weeks' gestation with a large fetal head for the gestational age, an occipital encephalocele and ventriculomegaly. Both fetal kidneys were large, echogenic and multicystic, but oligohydramnion was not observed. Post-axial polydactyly of the fetal feet was demonstrated. The Meckel-Gruber syndrome was diagnosed, but termination of pregnancy was declined. Three weeks later, the patient spontaneously delivered an 1890 grams live-born female. The newborn died 2 days later in the neonate intensive care unit.
We report a 23-week-old male fetus affected by Meckel-Gruber syndrome. Posterior encephalocele, post-axial polydactyly, and Dandy-Walker malformation were observed on ultrasonographic (USG) examination at 22 weeks' gestation, and lobar holoprosencephaly was demonstrated on postmortem magnetic resonance imaging (MRI) prior to autopsy. After the termination of the pregnancy, polycystic dysplastic kidneys were also noted at postmortem investigation. The proband was the product of the fourth pregnancy of a consanguineous family in which all three siblings were also similarly affected. Interestingly, both the two-year-old affected sister and 23-week-old male fetus had Dandy-Walker complex.
We report five patients with Walker-Warburg syndrome. These patients showed congenital hydrocephalus, encephalocele, agyria, ocular abnormalities (cataracts in 100%), and in four signs of muscular dystrophy. No cause is known for theses abnormalities. Death occurred before two years of age; however, one patient is currently alive with 6 months of age. This disease is recognized as a genetically determined condition with an autosomal recessive mode of inheritance. We comment on the similarities of this syndrome with other syndromes and the latest investigations concerning the pathogenesis. We believe that it is very important to suspect this illness in order that genetic counseling can be offered.
Idiopathic brain herniation into the middle ear and the mastoid process is an infrequent condition. There are only 29 cases reported in the world literature covering the last 40 years. The paper inform on one of those cases, a man, of spontaneous encephalocele and deals with the pathogenesis, the clinical features and the suitable surgical approach.
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.
A female infant with hydrolethalus (Salonen-Herva-Norio) syndrome, an autosomal recessive disorder, is reported. This condition was suspected at 26 weeks of gestation by fetal ultrasonographic examination. The pregnancy was complicated by polyhydramnios. The newborn showed hydrocephalus, occipital encephalocele, micrognathia, interventricular defect, hallucal duplication. The patient died at age 5 months and 11 days.
Nasal dermal sinus cysts, encephaloceles, and gliomas are the most common congenital nasal masses with actual or potential central nervous system connections. They can present intranasally, extranasally, or as external nasal masses with or without nasal obstruction. This paper presents several illustrative cases and reviews recent concepts in embryology and management, which hold that all congenital midline nasal masses potentially have central nervous system connections and should be managed as such.
Neural tube defects--including spina bifida, anencephaly, and encephalocele--are common, serious birth defects that are important causes of infant mortality and disability. Women in the United States who have had a pregnancy resulting in an infant or fetus with a neural tube defect have a 2%-3% risk for having another pregnancy resulting in an infant or fetus with a neural tube defect (i.e., a recurrence) The British Medical Research Council (MRC) Vitamin Study Group recently reported the results of a randomized prevention trial that indicated that daily oral supplementation with folic acid before conception and during early pregnancy substantially reduces the recurrence of neural tube defects. This report summarizes the findings of that study and provides recommendations for supplementation with folic acid to prevent the recurrence of neural tube defects.
Meckel syndrome is a rare autosomal recessive disorder. The triad of the syndrome consists of occipital encephalocele, polycystic kidneys and postaxial polydactyly. At least two of these features are essential for the diagnosis, but other malformations such as microcephaly, cleft palate and ambiguous genitalia may also be present. The condition is considered invariably fatal. This report demonstrates that the prenatal diagnosis can in principle be established by ultrasound examination alone, and as early as 13 weeks' gestation.
A 6-year-old boy was sent to us due to basal meningoencephalocele detected by MRI. He had had a past history of strabismus and morning glory syndrome since 6 months of age, as well as hypopituitary dwarfism since he was 3 years old. On admission, physical examination revealed hypertelorism and left coloboma. Laryngoscopic examination revealed a round mass covered by normal nasal mucose in the midline of the tegmen of the choana. X-ray tomogram and CT scan demonstrated an isodense mass protruding into the nasopharyngeal cavity through a bony defect of the sella turcica. Right carotid angiogram showed stenosis of the right internal carotid artery and abnormal fine vessels in the basal ganglia similar to basal Moyamoya network. There was an irregular filling of the right anterior cerebral artery. Left carotid angiogram showed an irregular filling of the left middle cerebral artery. MRI showed an anterior part of the third ventricle descending into, and the meningocele protruding into the nasopharyngeal cavity. It also showed a stalk extending from the hypothalamus into the meningocele, but the pituitary gland was not recognized. The meningocele was of the same signal intensity as CSF in both T1 and T2 weighted images. Growth hormone deficiency was confirmed by radioimmunoassay of the peripheral blood. An operation was scheduled transcranial to prevent snoring during sleep at age 9. The stalk was observed behind the chiasm during the operation, but a radical operation was not performed because of a possibility of postoperative hypothalamic-pituitary dysfunction. Transsphenoidal encephalocele is rare. So far as we could see, only 30 cases have been reported.(ABSTRACT TRUNCATED AT 250 WORDS)
1) Destructive processes are responsible for most cases of cerebellar microgyria of the trabecular pattern. Erosion and subsequent fusion of the folia produce the disorganized pattern in which the various cellular elements retain their noraml relationship and are capable of normal maturation. Intrauterine infection is responsible for most cases; the evidence is conclusive in some cases, presumptive in others. 2) Faulty genetic coding, as illustrated by the trisomies, may lead to formation of heterotopias. The primitive cells aggregating around the dentate nucleus should be interpreted as matrix cells and not as cells of the external granular layer. Cortical heterotopias with attempted internal organisation also occur; their origin is obscure. The unusual, possibly unique, transposition of the internal granular and Purkinje cell layers observed in one case may be ascribed to faulty formation of the Bergmann glia by analogy with the weaver mouse. 3) It is impossible at present to disentangle the role of genetic and environmental factors in the pathogenesis of the hysraphic malformations. It is possible, however, that defective fusion of the intraventricular cerebellar primordium plays a part in the development of the Dandy-Walker malformation, of midine cerebellar clefts in some cases of occipital encephalocele, and of extra-axial ependymal cysts of the posterior fossa.