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At least 613 records · Page 34Linked to original sources

PubMed1986

Prevalence and prenatal diagnosis of neural tube defects in Nova Scotia in 1980-84.

A survey of the records of all hospitals with obstetric services in Nova Scotia revealed that during 1980-84 there were 122 pregnancies involving a neural tube defect. The mean rate was 2/1000 births. Of the affected fetuses or infants 54% had spina bifida, 35% had anencephaly and 11% had encephalocele. The records showed that in the early part of the period studied at least one prenatal ultrasonographic examination had been performed in 60% of the pregnancies; in 1984 the rate was 74%. When examinations done before 16 weeks' gestation were excluded, the overall detection rates at the first ultrasonographic examination were 100% for anencephaly and 73% for spina bifida and encephalocele; the rates improved toward the end of the study period.

Abortion, Therapeutic↗

PubMed1985

[A case of basal encephalomeningocele (a transethmoidal type) containing the olfactory nerve].

An experience of operative case of basal (transethmoidal type) encephalomeningocele is reported. A 3-year-old boy complained of continuous, spontaneous cerebrospinal fluid rhinorrhea and right intranasal mass lesion. The rhinorrhea began when one year old. He suffered from meningitis at the age of two. When he was three years old, the intranasal mass and CSF rhinorrhea were perceived. On admission he had normal general status and no abnormality in neurological examination. The usual axial computed tomography showed a small mass in the intranasal cavity. But the continuity between the mass and brain parenchyma was not detected in this study. Metrizamide CT cisternography demonstrated it. Coronal CT scan visualized it more directly. We performed operation using bifrontal craniotomy and subfrontal approach. Brain parenchyma did not protrude into the frontal cranial base and expanding right olfactory nerve penetrated into the small defect at the right cribriform plate. The olfactory nerve was extracted as much as possible. The defect was filled with a few piece of muscle and coating with the adhesive agent was performed. Histological findings of operative specimen were abnormal olfactory nerve, normal brain tissue and arachnoid membrane. Post-operative state was uneventful. CSF rhinorrhea disappeared. Post-operative direct sagittal computed tomography visualized the encephalomeningocele extremely. Biopsy of the intranasal mass revealed brain tissue covered by normal nasal epithelium. Basal encephalocele is rare in Japan. We found 10 cases in the literature. It is important that we do not forget basal encephalocele in the difference of intranasal tumors.(ABSTRACT TRUNCATED AT 250 WORDS)

Child, Preschool↗

PubMed1980

Diagnostic ultrasound: early detection of fetal neural tube defects.

In a series of 366 patients identified as at risk for a fetal neural tube defect (NTD) before the 24th week of pregnancy, 64 had an abnormal fetus. The abnormalities included anencephaly (39), open spinal defect (17), closed spinal defect (2), encephalocele (1), and a miscellany of other abnormalities (5). An ultrasound examinaton prior to diagnostic anmiocentesis positively identified all anencephalic fetuses, the fetus with the encephalocele, and 15 of the 19 fetuses with spina bifida. The spinal defects in 3 of the remaining 4 fetuses were demonstrated at a second examination. Since both amniotic fluid alpha-fetoprotein (AFP) assays and ultrasound examination have been shown to give false results in the diagnosis of NTDs, the importance of using 2 independent diagnostic techniques is stressed. In patients with elevated levels of maternal serum AFP, a careful ultrasound examination, in addition to identifying the majority of cases associated with an abnormal fetus, provided a good explanation for the elevation in over half of the remainder. In this series more than half the patients (40/69) who underwent amniocentesis because of raised maternal serum AFP levels were shown to have an abnormal fetus.

Amniotic Fluid↗

PubMedDate not supplied

[Prenatal diagnosis of severe neural tube defect in negative biochemical findings].

With reference to a case of occipital encephalocele associated with iniencephaly diagnosed by ultrasonography in the 20th week of pregnancy, the diagnostic problems of craniospinal defects, factors influencing prognosis and clinical consequences are described. Even when results of biochemical tests are negative, minute neural canal defects can be diagnosed early by ultrasonography. In the authors' opinion an ultrasonographic diagnosis of encephalocele represents an indication for termination of pregnancy, in view of the poor prognosis.

Abnormalities, Multiple↗

PubMed1984

New perspectives in the management of severe cranio-facial deformity.

It is postulated that craniosynostosis is due to a growth abnormality in all or part of the cranial capsule. Release of the stenosed part in the first months of life will re-establish the balance between the rapidly growing brain and eye, and the cranial capsule. Three periods for operative treatment are described: early, intermediate and late. Only in the early period can operative treatment restore normal growth dynamics; in the late period the aim is correction of an established deformity. The relationship between cranial clefts and frontonasal encephaloceles is explored. If the space-occupying encephalocele is removed early, the distorted facial bones adopt a more normal position, whereas cranial clefts do not respond to early operation by remoulding. The treatment of the acquired deformities of acute cranio-facial trauma have taken on new perspectives with the application of the multi-disciplinary approach and surgical techniques developed in the treatment of congenital deformities resulting in considerable reduction in the period of hospitalisation.

Child↗

PubMed1981

Ultrasonographic parameters in the prenatal diagnosis of Meckel syndrome.

The ability to make a prenatal diagnosis of Meckel syndrome (encephalocele, polydactyly, and polycystic kidney) by ultrasound is described. Three cases are detailed; in 2 of these the diagnosis was made at 18 and 36 weeks' gestation, respectively. In case 1 Meckel syndrome was identified by the presence of oligohydramnios, microcephaly, and enlarged cerebral ventricles. In case 2 oligohydramnios was associated with an encephalocele, bilateral renal enlargement, and a polydactyly. In case 3 the diagnosis was excluded in a fetus at risk. The usefulness of ultrasound in making this diagnosis is discussed for cases in which the amniotic fluid alpha-fetoprotein value is normal, inconclusive, or unobtainable.

Abnormalities, Multiple↗

PubMed1995

The hair collar sign: marker for cranial dysraphism.

OBJECTIVE: To call attention to a cutaneous marker for neural tube closure defects of the scalp, the "hair collar" sign. This finding consists of a ring of long, dark, coarse hair surrounding a midline scalp nodule. METHODS AND RESULTS: Four children with small congenital scalp nodules and the hair collar sign were studied from the standpoint of clinical findings, radiologic scans, and histology of the excised nodules. All four had an overlying vascular stain in addition to the hair collar. Patients 1 and 2 were found to have encephaloceles, and one had heterotopic brain tissue. The fourth family refused surgery, but the clinical and radiologic findings were consistent with a diagnosis of atretic encephaloceles. One infant had agenesis of the corpus callosum and a Dandy-Walker malformation as associated findings. CONCLUSIONS: The "hair collar" sign should alert the pediatrician to the possibility of ectopic neural tissue in the scalp and/or underlying central nervous system malformations.

Agenesis of Corpus Callosum↗

PubMed1995

Prenatal diagnosis of Meckel-Gruber syndrome case reports.

Two cases of Meckel-Gruber syndrome are presented. In the first case, abdominal tumor and decreased amniotic fluid were initially suspected. In the second case, Omphalocele was diagnosed by local practitioners. Thorough obstetric sonographic studies revealed encephalocele, bilateral renal cystic dysplasia, polydactyly, microcephalus, intrauterine growth retardation (IUGR) and oligohydramnios. Chromosomal analysis by percutaneous umbilical cord blood sampling (PUBS) was normal with 46,XY in Case 1 and 46,XX in Case 2. The prenatal diagnoses were confirmed by autopsy. The pathologic reports revealed type I polycystic kidney, bile duct proliferation, fibrosis of the portal area, encephalocele and polydactyly. It is interesting to note that the two cases came from two different families without any family history of inherited disease.

Abnormalities, Multiple↗

PubMed1994

Symptomatic tethering of the cerebellar vermis: case report.

A 25-year-old man with symptomatic tethering of the cerebellum is presented. At the age of 8 days, the patient underwent a limited repair of a posterior fossa encephalocele. He was well until the age of 24 when he began to experience paroxysms of extremity weakness, progressive incoordination, and pain at the base of the skull. Imaging demonstrated a connection between the cerebellar vermis and the subcutaneous tissue underlying the site of the previous encephalocele repair. Exploration of the area with the release of a fibrous stalk resulted in the rapid resolution of the patient's symptoms.

Adult↗

PubMed1996

Uncommon craniospinal dysraphism.

The uncommon variants amongst 619 cases of craniospinal dysraphism have been studied between 1987 to 1993. Lateral cervical meningocele is an extremely rare condition as to date only ten cases are traceable in the world literature. Its pathogenesis is discussed in detail. Similarly, this case of lateral frontal encephalocele is the second such example. Orbital meningocele may be congenital or following trauma to the orbital roof. Besides other unusual locations like the vertex, posterior fontanelle and anterior sacral are also encountered. Thus this paper focuses on the aetiology, clinical presentation and management of uncommon types of craniospinal meningo-encephaloceles.

Child↗

PubMed1997

[Trans-ethmoid meningocele diagnosed in adults. Description of one case].

The meningocele and encephalocele are extracranial herniation of single meninges or meninges with brain tissue, through cranial defect. This pathology can be classificated according to contain or localization. The trans-etmoidal encephalocele is the 5% of meningoencephaloceles, and they are the 8-19% of all neural tube dysraphism. We report a 54 year-old woman with a spontaneous rhinorrhea due to an trans-ethmoidal meningocele associate with a recurrent meningitis. The computed tomographic (CT) revealed a trans-ethmoidal meningocele and she was treated with surgery. In presence of a patient with recurrent meningitis is necessary value the possibility of rhinorrhea, and an exhausted radiology study will be fulfill for identify the opening in the skull through leak CSF, and offer the best treatment. The transetmoidal can be a cause of rhinorrhea. The CT scan study of anterior fosa is a good method for diagnostic of this pathology, however, the IRM is the election method.

Age of Onset↗

PubMed1976

[Two cases of craniolacunia associated with meningocele and meningoencephalocele (author's transl)-a1].

Craniolacunia (lacunar skull, Luckenschadel) is characterized by multiple, round or oval, radiolucent defects, sharply separated by dense strip of bone (honey comb like configuration) which tend to cluster in the cranial vault on plain skull film. Craniolacunia is present at birth and frequently associated with myelomeningocele, encephalocele or other congenital abnormalities of the central nervous system. Patients with carniolacunia have high mortality due to these associated lesions, and to the secondary effects of these neurological lesions. Recently, it is interested that the presence of carniolacunia can be used as an early indicator of intellectual capacity or recommendation of early indicator of intellectual capacity or recommendation of early surgery for associated lesions. Two cases of craniolacunia with meningocele in the lumbar region and encephalocele in the frontal region are presented and the etiology, clinical significance, prognosis of craniolacunia are discussed. Case 1 (Fig. 1, 2, 3), who had a soft tumor in the lumbar region since birth, was admitted to Saiseikai Yahata Hospital under the diagnosis of meningocele on October 26, 1973. The circumference of the head was 32.5 cm, and the lumbar tumor was infant fist growth, oval, brownish and soft in appearance. The patient had no neurological positive signs or other abnormalities including chest, abdomen and extremities. Plain skull film showed typical craniolacunia in the parietal, frontal and occipital region of the vault. Three days after admission, the patient had opisthotonus like posture at times and convulsive seizure of extremities. Suspected of meningitis, ventricle tap was performed. From the findings of obtained cloud xanthchromic cerebrospinal fluid which was revealed pleocytosis and many Klebsiella or other Gram (-) bacilli on bacterial culture, the diagnosis of ventriculitis was made...

Encephalocele↗

PubMed1997

Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency.

The spectrum of defects in cases with limb body wall complex (LBWC) is quite variable since other anomalies are also observed in infants with LBWC, and some cases do not have limb deficiencies. Van Allen et al. [Am J Med Genet 1987;28:529-548] proposed that the diagnosis of LBWC (presence of body wall defects with evisceration of thoracic and/or abdominal organs, limb deficiency, and myelocystocele) should be based on the presence of two of three of the following anomalies: exencephaly or encephalocele with facial clefts, thoraco and/or abdominoschisis, and limb defects. This approach implies that an infant with encephalocele with facial clefts and limb defects may be considered as having LBWC, which I do not think is correct. I present the results of a clinical and epidemiological analysis aimed at identifying if, from an epidemiological perspective, it is possible to identify an entity which is characterized by the presence of abdominal wall defects along with other malformations including or not limb deficiencies. The result of this analysis allows us to consider that this entity should be characterized by the presence of abdominal wall defects with a variable spectrum of anomalies (with or without limb deficiencies) and, consequently, be called body wall complex (BWC). BWC includes cases regardless of their clinical pattern and the possible etiology or pathogenetic mechanism. Thus, the BWC entity does not include amniotic band sequence without body wall defects, but does include amniotic band sequence with body wall defects.

Abdominal Muscles↗

PubMed2000

Amniotic fluid homocysteine levels, 5,10-methylenetetrahydrafolate reductase genotypes, and neural tube closure sites.

A specific gene mutation leading to altered homocysteine metabolism has been identified in parents and fetuses with neural tube defects (NTDs). In addition, current animal and human data indicate that spine closure occurs simultaneously in five separate sites that then fuse. We sought to determine whether either this mutation or abnormal amniotic fluid homocysteine levels are associated with all five neural tube closure sites. We retrieved stored amniotic fluid from cases of isolated fetal neural tube defect diagnosed from 1988 to 1998 (n = 80) and from normal controls matched for race, month and year of amniocentesis, and maternal age. Cases were categorized according to defect site by using all available medical records. The presence or absence of the 677C-->T mutation of 5, 10-methylenetetrahydrafolate reductase (MTHFR) gene was determined, and homocysteine levels were measured; case and controls were compared. Significantly more cases than controls were heterozygous or homozygous for the 677C-->T MTHFR mutation (44% vs. 17%, P < or = 0. 001). Likewise, cases were significantly more likely than controls to have amniotic fluid homocysteine levels >90th centile (>1.85 micromol/L), 27% vs. 10%, P = 0.02. Most (83%) of control cases had both normal MTHFR alleles and normal amniotic fluid homocysteine levels (normal/normal), whereas only 56% of NTD case were normal/normal (P = 0.001). When evaluated by defect site, only defects involving the cervical-lumbar spine, lumbosacral spine, and occipital encephalocele were significantly less likely to be normal/normal than controls (P = 0.007, 0.0003, and 0.007, respectively), suggesting a strong association with the 677C-->T allele. In contrast, anencephaly, exencephaly, and defects confined to the sacrum included many cases that had both normal MTHFR alleles and normal homocysteine and were not significantly different from controls. The 677C-->T MTHFR mutation and elevated homocysteine levels appear to be disproportionately associated with defects spanning the cervical-lumbar spine, lumbosacral spine, and occipital encephalocele. In contrast, anencephaly, exencephaly, and defects confined to the sacrum may not be related to altered homocysteine metabolism.

5,10-Methylenetetrahydrofolate Reductase (FADH2)↗

PubMed1998

Associated malformations in infants and fetuses with upper or lower neural tube defects.

The paper describes associated malformations in infants born with neural tube defects (N = 3,809) from three large malformation registers and in fetuses aborted because of a diagnosed neural tube defect (N = 748) from two of the registers. In infants, upper spina bifida and encephalocele are more often associated with non-neural malformations than anencephaly or lower spina bifida. Aborted fetuses with spina bifida or encephalocele have associated malformations registered more often than infants with those neural tube defects, but the opposite is true for anencephaly. The degree of detail of the investigation of an aborted specimen or a perinatally dead infant will contribute to such differences but they can also depend on the fact that prenatal detection may be facilitated by the simultaneous presence of other malformations like body wall defects. Also, fetuses with many malformations may be more prone to abort spontaneously late in pregnancy. Variable prenatal diagnosis may, therefore, explain population differences in the pattern of associated malformations. The type of associated malformation differs with the level of the neural tube defect: this could be due to different causal mechanisms or be a question of cranio-caudal level and/or timing. For limb reduction defects, however, we did not find any association between upper limb and upper neural tube defects or lower limb and lower neural tube defects. These findings together with other epidemiological data support the idea that upper and lower neural tube defects may have different significance in epidemiological studies and should be treated separately.

Abnormalities, Multiple↗

PubMed2001

High maternal fever during gestation and severe congenital limb disruptions.

Hyperthermia is defined as a temperature of at least 1.5 degrees C over the normal core body temperature. It is a proven teratogen in animals and in humans. The type of defects induced by hyperthermia in experimental animals are: anencephaly/exencephaly, encephalocele, microphthalmia, arthrogryposis, abdominal wall defects, limb deficiencies, embryonic death, and resorption. In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, Möbius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions. We describe an additional case with severe limb deficiencies whose mother had fever over 39 degrees C for 2 days in the second and in the fourth month of amenorrhoea. We conclude that, based on the degree of development of the humeri and the femora and the type of limb deficiencies, this case presents a disruption that most probably occurred in the fourth month of gestation.

Abnormalities, Multiple↗

PubMed1993

Acalvaria: a unique congenital anomaly.

Acalvaria is a rare malformation usually regarded as a postneurulation defect. It consists of absence of the calvarial bones, dura mater and associated muscles in the presence of a normal skull base and normal facial bones. The condition is frequently confused by prenatal ultrasonography with anencephaly or an encephalocele. Whereas the cerebral hemispheres are absent in anencephaly, the cranial contents in acalvaria are generally complete, though some neuropathological abnormality is often present. The presumed pathogenesis of acalvaria is faulty migration of the membranous neurocranium with normal placement of the embryonic ectoderm, resulting in absence of the calvaria but an intact layer of skin over the brain parenchyma. We describe 2 cases of acalvaria, one misdiagnosed ultrasonographically as an occipital encephalocele prenatally. The brain in one fetus demonstrated semilobar holoprosencephaly and micropolygyria, but in the other, was structurally and histologically normal with the exception of hydrocephalus.

Abortion, Therapeutic↗

PubMed2006

Postmortem evaluation of 220 prenatally diagnosed fetuses with neural tube defects: detection of associated anomalies in a Turkish population.

OBJECTIVES: The aim of this study is to represent the distribution of disorders resulting from neural tube defects (NTDs). MATERIALS AND METHODS: This study was conducted on 220 prenatally diagnosed cases with NTDs. Fetuses were evaluated by physical examination, anthropometric measurements, X-rays, and photographs after termination of pregnancy. Chromosome analysis and autopsy were performed for 37 fetuses (16.8%) with additional malformations. RESULTS: In 29 out of 37 fetuses (78.4%), additional malformations were detected by prenatal ultrasonography, whereas in eight cases postmortem evaluation produced additional findings that were not detected prenatally. Fourteen of 37 (37.8%) and 65 of 220 (29.5%) fetuses had clubfoot, which was mostly secondary to NTDs. There was no difference in sex distribution between isolated NTDs and the group with additional abnormalities and among the groups anencephaly and anencephaly + anomaly, encephalocele and encephalocele + anomaly, spina bifida and spina bifida + anomaly. There was only one case, a female fetus, with iniencephaly in this group. Anencephaly was more frequent in cases with isolated NTDs (48.1%) than in those with additional anomalies (27%). There was no difference for other groups of NTDs. The most frequent disorder was vertebral segmentation defects, which were detected in 11 out of 37 cases (29.7%). CONCLUSIONS: Evaluation of associated malformations and confirmation of ultrasound findings can be performed by postmortem examination and simple X-ray studies for exact diagnosis, which strongly affects decisions on further pregnancies as well as genetic counseling. This method is straightforward, inexpensive and effective.

Autopsy↗