SEARCH · PubMed Health

Results for “ENCEPHALOCELE”

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.

At least 793 records · Page 44Linked to original sources

PubMed1996

Iniencephaly: sonographic-pathologic correlation of 19 cases.

During a four year period (1991-1994), 19 cases of iniencephaly were evaluated at our institution. Associated cranial malformations include anencephaly in 15 (79%), and posterior encephalocele in 5 (26.3%) of the cases. Other associated malformations include diaphragmatic defects with a accompanying hernia, omphalocele, gastrointestinal malformations, cardiovascular and genitourinary malformations, single nostril, facial cleft, spina bifida, hypoplastic lungs, club foot and single umbilical artery. No single causative agent for this group was identified. A brief review of the literature is included regarding categorization of these malformations and also a discussion of the embryological basis for these lesions and possible etiological factors.

Abnormalities, Multiple↗

PubMed2006

Mutations in collagen 18A1 and their relevance to the human phenotype.

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.

Alleles↗

PubMed2006

Structural birth defects associated with oral clefts in Hawaii, 1986 to 2001.

OBJECTIVE: To identify structural birth defects that occur in association with oral clefts. METHODS: Data were obtained from a birth defects registry and included all infants and fetuses with cleft palate without cleft lip or cleft lip with or without cleft palate delivered from 1986 to 2001. For 47 specific structural birth defects, rates among oral cleft cases were compared with the rates among all infants and fetuses with major birth defects, excluding those with oral clefts. RESULTS: Among cleft palate only cases, the rates were significantly higher than expected for encephalocele, microcephaly, and syndactyly. Among cases of cleft lip with or without cleft palate, the rates were significantly higher than expected for anophthalmia/microphthalmia, single ventricle, reduction deformity of upper limbs, and reduction deformity of lower limbs. When cases of cleft palate only and cleft lip with or without cleft palate were compared as to the rates for particular birth defects, the rates of the defects were either higher or lower than expected in both oral cleft categories for 38 (81%) of the defects. CONCLUSIONS: Certain birth defects were more frequently associated with oral clefts than might be expected. For the majority of defects, their patterns of association were similar between cleft palate without cleft lip and cleft lip with or without cleft palate.

Anophthalmos↗

PubMed1994

Neural tube defects in Jamaica following Hurricane Gilbert.

An increased incidence of obvious live-birth neural tube defects (i.e., spina bifida cystica and encephalocele) occurred in Jamaica 11 to 18 months after Hurricane Gilbert. The conceptions of the affected babies coincided with a rise in megaloblastic change in sickle cell patients, suggesting a wide-spread drop in dietary folate intake. A detailed history was taken from each of the 17 affected mothers (case subjects) and 51 unaffected mothers (matched control subjects). The case subjects reported a significantly lower mean intake of dietary folate in the periconceptional period (154 micrograms/day) than did the control subjects (254 micrograms/day). The temporary increase in neural tube defects was associated with a diet comparatively low in folate in the periconceptional period, suggesting the dietary level of folate that fails to protect against neural tube defects under natural conditions.

Case-Control Studies↗

PubMed1994

Emerging symptoms of growing skull fracture after secondary trauma in an adult--case report.

A 20-year-old female presented with dysphasia and slight hemiparesis following a head trauma, who had a non-treated growing skull fracture which had remained asymptomatic for about 18 years, despite an encephalocele in the left parietal region. Neuroimaging demonstrated secondary brain damage and herniated brain resulting in gliosis. Electroencephalography revealed epileptic discharge in the affected region. Dural repair and cranioplasty resolved her neurological deficits. Early corrective surgery should be performed for growing skull fracture to prevent secondary brain damage.

Adult↗

PubMed1976

Normal variants and congenital anomalies in the region of the obelion.

A number of anatomic bony variants and several congenital anomalies are known to occur at the level of the obelion, that is, in the posterior interparietal region of the head, a short distance in front of the lambda. Among them are: (1) remnants of the embryonic parietal incisura, including parietal fissure, small and large parietal fontanelle, obeliac bones, persistant midline parietal foramen, and small and large parietal foramina; (2) encephalomeningoceles and related defects, including true encephaloceles, herniation of midline intracranial cysts (diencephalic and Dandy Walker cyst), epicranial arachnoid cysts, and scalp defects with ectopic glial tissue; and (3) congenital scalp and skull defects (cutis aplasia congenita). A review of these defects is presented with some illustrative examples not previously reported.

Adolescent↗

PubMed1982

Review. In utero sonographic diagnosis of fetal cerebral anomalies.

Obstetric sonography can be used to diagnose anomalies in the fetal brain. Cystic masses in the fetal brain may be due to hydrocephalus, hydranencephaly, holoprosencephaly, or arachnoid cysts. The relations of the falx cerebrum, ventricular system, and cerebral convexities are essential in distinguishing among these anomalies. Anencephaly and encephaloceles can also be detected by sonography. A review of the literature and experience with 10 cases is discussed.

Anencephaly↗

PubMed1986

Three-dimensional CT reformation in children.

Three-dimensional computed tomographic (CT) reformation has proven useful in the evaluation of congenital malformations of the brain as well as in the surgical approach and postoperative assessment of craniofacial anomalies in children. This technique was performed on 41 patients, of whom eight are presented. The congenital anomalies of semilobar holoprosencephaly and colpocephaly are described. Six representative cases of craniofacial anomalies with pre- and postoperative examinations include Crouzon syndrome, orbital fibrous dysplasia, frontonasal encephalocele, cranial involvement from neurofibromatosis, Treacher-Collins syndrome, and a Tessier III facial cleft. Addition of the dimension of depth provides a view heretofore not obtainable by standard imaging techniques and allows more accurate diagnosis as well as a more specific approach to surgical planning and follow-up.

Brain↗

PubMed1988

Anomalies of the corpus callosum: correlation with further anomalies of the brain.

The MR imaging studies of 68 patients who had brain anomalies were reviewed retrospectively to evaluate specific anatomic abnormalities of the corpus callosum. The corpus callosum was abnormal in 32 (47%) of the 68 patients. Excluding patients with the Chiari I malformation, callosal anomalies were present in 30 (68%) of 44 patients. Callosal dysgenesis was most common, followed by callosal atrophy or hypoplasia and complete agenesis. The anterior commissure was present in all patients. On the basis of the known temporal sequence of brain and callosal embryogenesis, we deduced the following regarding the pathogenesis of developmental anomalies: (1) callosal dysgenesis occurs as a result of insults during the formation of its precursors, not during formation of the corpus callosum itself; (2) the Dandy-Walker malformation sometimes occurs as a result of an insult in the eighth week of gestation, several weeks later than has been generally accepted; (3) sphenoidal encephaloceles probably occur as a result of faulty disjunction of neuroectoderm and cutaneous ectoderm at the anterior neuropore; and (4) a complete but atrophic corpus callosum results from an insult to the cortex or white matter after formation of the corpus callosum is complete (18-20 weeks). Callosal anomalies, easily identified on MR, are an important indicator of additional brain anomalies. Analysis of the corpus callosum provides important information about the embryogenesis of brain anomalies and may assist in distinguishing between in utero and perinatal brain insults.

Adolescent↗

PubMed1991

Bilateral congenital ocular cysts.

This report presents an unusual case of bilateral congenital ocular cysts. These are in the spectrum of congenital cystic eye and microphthalmos with cysts. Diagnostic evaluation, including orbital B-scan ultrasonography, computed tomography and magnetic resonance imaging is described. Pathologic evaluation of the orbital cysts was consistent with congenital cystic eye. An associated microphthalmic eye was not detected with serial sectioning of both specimens. Examination of the orbit at exploration as well as pre- and post-operative MRI scans failed to demonstrate the presence of a microphthalmic eye in either orbit. Failure to detect a microphthalmic eye clinically, by diagnostic imaging studies, or serial microscopic sections of the cysts supports the diagnosis of congenital cystic eye. This child has associated mild facial clefting (median cleft lip and cleft palate) and basal cephalocele. Histopathologically documented cases of ocular abnormalities associated with basal encephalocele have not been reported. To the authors' knowledge, MRI findings of congenital ocular cysts have been reported once previously in a case of microphthalmos with cyst, however, histopathologic correlation has not been reported previously.

Cysts↗

PubMed1975

Isotope cisternography and ventriculography in congenital anomalies of the central nervous system.

The author discusses the value of isotope cisternography and ventriculography in the diagnosis of a variety of congenital anomalies of the central nervous system (CNS) associated with either hydrocephalus or a disturbance in cerebrospinal fluid (CSF) flow and absorption. In sincipital encephaloceles the techniques demonstrate CSF communication with the anomalous sac and the frequently associated hydrocephalus with occipital lesions. In porencephaly and cerebral agenesis, the isotope demonstrates ventricular reflux and remains in the cystic dilatation indicating abnormal CSF absorption; isotope ventriculography also reveals a delayed CSF absorption and the possible sites of CSF obstruction in Arnold-Chiari malformations and Dandy-Walker syndrome. In addition to their differential diagnostic value isotope studies can be a helpful guide in the choice of the proper surgical treatment of some CNS anomalies.

Anencephaly↗

PubMed1984

Fourth ventriculoceles with extracranial extension.

The radiographic features and long-term clinical outcome in three patients who presented at birth with a cystic suboccipital mass in direct communication with the fourth ventricle are reviewed. The pathological findings in a fourth infant who died are also discussed. All surviving infants were treated with cyst excision and diversion of cerebrospinal fluid. The prognosis in these children, followed from 6 to 20 years, surpasses that of the more common occipital encephalocele, for which this entity could be mistaken. The morphogenetic implications relative to more common congenital lesions in this location are discussed.

Cerebral Ventricles↗

PubMed1988

Parietal cephalocele: clinical importance of its atretic form and associated malformations.

In this study of atretic cephaloceles, the authors have considered the pedunculated or sessile type of cephalocele and also small nonpedunculated scalp defects developing in the vertex midline. Parietal cephaloceles were found in 15 infants (10 boys and five girls), and accounted for 37.5% of all cephaloceles. They consisted of four encephaloceles, six meningoceles, and five atretic cephaloceles. The clinical and morphological characteristics of parietal cephaloceles were investigated and compared with those arising at other locations. Parietal cephaloceles carried a much less favorable prognosis than those in the occipital region, regardless of the type of cephalocele; they were associated with cerebral malformations more frequently and were more severe than occipital cephaloceles. Grave congenital anomalies were found in 87% of patients with parietal cephalocele, and only two patients (neither of whom had any other malformation) attained normal development. Brain malformations were closely related to the site from which the cephalocele issued, and dorsal cyst malformation was found in eight patients with parietal cephalocele. Two types of atretic cephaloceles were found, each in a different location. The first type was an alopecic lesion occurring in the parietal midline; all five patients with this type had dorsal cyst malformations and none developed normally. The second type was a nodular lesion developing at the occipital midline, not associated with cerebral anomalies; all five patients with this type showed normal development. The pathogenesis of atretic cephaloceles and their associated intracranial malformations are discussed.

Alopecia↗

PubMed1997

Transpalatal approach for the extracranial surgical repair of transsphenoidal cephaloceles in children.

The surgical treatment of transsphenoidal cephaloceles in children is controversial. Reduction and repair via a transcranial approach are associated with high postoperative rates of morbidity, mortality, and hypothalamic dysfunction. In this study, four patients, aged 3 to 35 months at surgery, underwent successful transpalatal repair of two encephaloceles and two meningoceles. Two patients presented with nasal obstruction in infancy, one presented with unexplained meningitis, and in one patient the lesion was found incidentally during evaluation for seizures. Two children had median cleft face syndrome, another had an associated Arnold-Chiari type I malformation, and the fourth had no other cranial abnormalities. All patients underwent preoperative evaluation including magnetic resonance (MR) imaging. Auditory, ophthalmological, genetic, endocrinological, or other evaluation was undertaken as indicated. Lesions were approached through the median raphe of the hard and soft palates. All cephaloceles were easily visualized and dissected after division of the nasal palatal mucosa. The dural sac and its contents were reduced by surface coagulation after division and dissection of the overlying mucosa. Once reduced, the bone defect was obliterated in three of four patients. The dura was not opened and anomalous neural elements were not resected. At follow-up evaluation, all patients demonstrated resolution of preoperative symptoms without evidence of infection or lasting morbidity. Follow-up MR imaging showed reduction in all cases. The authors conclude that this transpalatal approach is safe and reliable for the treatment of transsphenoidal cephaloceles in young children.

Child, Preschool↗

PubMed1998

Iniencephaly: neuroradiological and surgical features. Case report and review of the literature.

Iniencephaly is a rare congenital anomaly characterized by spina bifida of the cervical vertebrae, fixed retroflexion of the head on the cervical spine, and occipital bone defect. There are only five reports of surviving patients with iniencephaly. The authors report the case of a newborn who presented with iniencephaly and an encephalocele that were surgically treated in our service. Neurological examination of the patient yielded normal results except for a moderate psychomotor retardation. The neuroradiological and surgical findings of the case suggested that the trigger of the anomaly was the occipital bone defect and rachischisis of the posterior vertebral arches.

Brain↗

PubMed2006

Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis.

This article provides an overview of the major pathologic manifestations of Meckel-Gruber syndrome, current knowledge about its pathogenesis, minimal diagnostic criteria, and differential diagnosis. Typical sonographic findings (occipital encephalocele, postaxial polydactyly, and cystic enlargement of the kidneys) allow for diagnosis of most cases before the 14th week of gestation, but the pathologist may encounter clinically unsuspected or atypical cases that require morphologic confirmation. In these cases, a meticulous autopsy is necessary to establish the diagnosis of Meckel-Gruber syndrome.

Abnormalities, Multiple↗

PubMed1987

Kleeblattschadel anomaly. In utero sonographic appearance.

Four cases of Kleeblattschadel demonstrated on prenatal ultrasound examinations are reported. Five additional cases from the literature are reviewed. Sonographic features include enlarged trilobed skull, hydrocephalus, polyhydramnios, and frequent association with thanatophoric dwarfism. The most common error in diagnosis was misinterpretation of this skull anomaly as encephalocele.

Adult↗

PubMed1998

[Dynamic variation of incidence of neural tube defects during 1988 to 1992 in China].

OBJECTIVE: To study the variation trend in incidence of neural tube defects (NTDs) during 1988 to 1992 in China. METHODS: Data were collected by hospital-based monitoring, with women of gestation of 28 weeks to seven days after birth as study subjects. And, 3,246,408 perinates were monitored in the National Birth Defect Monitoring Network in 30 provinces, municipalities and autonomous regions all over the country, and 7,778 cases of NTDs during 1988 to 1992 were recorded and analyzed. RESULTS: Incidence of NTDs was 18.0 per ten thousand in 1992, 28.9% reduction from 25.3 per ten thousand in 1988, and yearly average reduction of 8.2%. Incidence of NTDs decreased by 30.5% and 34.2% in rural and urban areas, respectively, by 30.5% and 27.8% in the north and the south, respectively, and incidence of anencephaly and encephalocele fell by 34.2% and 48.5%, respectively. CONCLUSION: Incidence of NTDs showed a falling trend in China, more decrease in rural area and in the north than in urban areas and in the south, respectively, and incidence of anencephaly and encephalocela fell faster.

Anencephaly↗