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At least 703 records · Page 39Linked to original sources
PubMed1985

Developmental toxicity of the cyanogenic glycoside linamarin in the golden hamster.

Cassava, a staple food in many tropical countries, has been suspected as a cause of human congenital defects. Ingestion of the material during pregnancy has been reported to induce limb defects, microcephaly, open eye, and growth retardation in rats. Linamarin is a natural cyanogenic glycoside that occurs in high concentrations in cassava. In the present study, pregnant hamsters received an oral dose of 70,100, 120 or 140 mg/kg linamarin or an equivalent volume of isotonic saline during the early primitive streak stage of gestation. A dose of 120 or 140 mg/kg of the glycoside was associated with an increased incidence of vertebral and rib anomalies as well as the production of encephaloceles in the offspring. These larger doses of linamarin also resulted in obvious maternal toxicity. Linamarin treatment had no effect on fetal body weight, ossification of fetal skeletons, embryonic mortality, or litter size. Although ingestion of the cyanogenic glycoside was associated with a significant teratogenic response, the effects occurred only at doses that elicited signs of maternal intoxication.

Abnormalities, Drug-Induced↗
PubMed1985

Hyperthermia as a teratogen: parameters determining hyperthermia-induced head defects in the rat.

This study determined the relationship between the duration and extent of temperature elevation, during a critical period of rat embryonic development, and the induction of congenital malformations. Pregnant Sprague-Dawley rats, at 9 days 12 hours gestation (gastrulation stage), were partially immersed in a water bath until their core temperature, monitored by a rectal thermistor probe, was elevated to a nominated temperature. Seven temperatures were tested from 40.5 degrees C to 43.5 degrees C, elevations of 2.0-5.0 degrees C in core temperature. Various durations at each of these temperatures were tested for potential teratogenicity. A single elevation of 5.0 degrees C or 4.5 degrees C needed only a "spike" in duration to be teratogenic, 4.0 degrees C was teratogenic within 5 minutes, 3.5 degrees C within 10 minutes, 3.0 degrees C within 20 minutes, and 2.5 degrees C within 1 hour. An elevation of 2.0 degrees C for 8 hours was not teratogenic. Microphthalmia was the most common malformation at all teratogenic temperatures and was frequently the only malformation seen at the shortest time exposure for a particular temperature. Encephalocele, facial clefting, and maxillary hypoplasia were the other frequently seen malformations. Five control rats were placed in the water bath for 2 hours at 38 degrees C so that their core temperature was not elevated. All the control fetuses were normal. An elevation of 2.5 degrees C for 1 hour was the threshold combination for teratogenesis. As the temperature increased above a 2.5 degrees C elevation the necessary duration of exposure for teratogenesis decreased.

Animals↗
PubMed1989

Proboscis lateralis: a case report.

A lateral proboscis usually occurs in the region of the inner canthus. We present a case of holoprosencephaly accompanied by an oblique facial cleft and an anterior encephalocele in which a proboscis lateralis occurred in a very lateral location.

Abnormalities, Multiple↗
PubMed1991

Lipoma of the corpus callosum associated with frontal and facial anomalies.

Seven patients with a corpus callosum lipoma associated with a frontal cranial defect with or without a superficial lipoma or a fronto-nasal dysplasia, were encountered over a period of 12 years. This group of patients is reported as these associated lesions may provide a lead to the cause of lipomas of the corpus callosum as well as of the different lesions in the fronto-facial region. From our experience and that of others, the frontal lesion may be an extracranial lipoma, a frontal bone defect, with or without an external lipoma, a lipomeningocele connecting the extracranial lipoma through a frontal defect with the corpus callosum lipoma, a frontal encephalocele. Fronto-nasal dysplasia associated with a corpus callosum lipoma, seems to form an independent group although some of these patients may have other extracranial lesions as well. It is suggested by the authors that as the primitive mesenchyme gives rise to the meninx primitiva as well as to the fronto-facial skeleton a disturbance of the neural crest may give rise to these combined lesions. Further analysis of similar cases may indicate the timing of these events, and perhaps reveal a common causative factor.

Adult↗
PubMed1996

The child with a cephalocele: etiology, neuroimaging, and outcome.

We report a series of 46 children who were treated for one of the diverse forms of cranium bifidum during a period of 22 years. The purpose of the survey was to investigate pathogenetic factors involved in the development of cranial dysraphism and to analyze clinical and pathological factors that influence the patients' outcome. We also investigated the existence of associated intracranial anomalies, in a systematic way, using modern methods of neuroimaging, and related the findings to the patients' final results. The lesions were classified as encephalocele (n = 15), cranial meningocele (n = 3), atretic cephalocele (n = 26), cranium bifidum occultum (n = 1), and exencephaly (n = 1). There was an excess of the atretic form of cephaloceles in our series, a fact that probably reflects geographical variations described for cephaloceles in general. The location of the lesions was occipital in 29 children, parietal in 16, and temporal and frontobasal in one case each. In seven cases there was parental consanguinity. A familial history of malformations of the central nervous system was encountered in eight instances. Associated systemic abnormalities were present in 23 patients, while central nervous system anomalies were found in 36 children. Cephalocele repair was undertaken on 35 occasions. There were no surgical fatalities in the series. The mean follow-up time was of 7 years. Overall mortality for the whole group was of 17/46 or 36%. Twenty of the 29 survivors had no neurological sequelae, but only 18 children exhibited a competitive intelligence level. A good outcome was found to correlate well with: an average head size at birth, a normal initial neurological condition, operability of the lesions, and an absence of disorders of the neuronal migration. Neurological outcome depended also on the occurrence or not of hydrocephalus, while the intelligence level was mainly related to the absence of cerebral tissue within the sac of the malformation.

Abnormalities, Multiple↗
PubMed1978

Prenatal diagnosis of Meckel syndrome.

The three main features of Meckel syndrome are encephalocele, polycystic kidneys, and polydactyly. Prenatal diagnosis of a fetus with Meckel syndrome was made in the 16th week of gestation by means of amniotic fluid alpha1 fetoprotein estimation. The indication for amniocentesis was a previous child with an occipital meningocele and polycystic kidneys. Interpretation of the alpha1-fetoprotein value (240 microgram/ml) was difficult due to fetal blood contamination. Prenatal diagnosis is indicated in any pregnancy following the birth of a child with only two major symptoms of Meckel syndrome.

Amniotic Fluid↗
PubMed1990

Cranium bifidum in northern Nigeria.

At the Ahmadu Bello University Hospitals in northern Nigeria, 35 girls and 29 boys with cranium bifidum were registered between 1971 and 1985. Only 25% of the patients were brought to the hospital within 24 h of life; 57 had been delivered at home without the mothers having received formal prenatal care. The majority (69%) of the lesions occurred in the occipital region; 52 (81%) were encephaloceles while the others were cranial meningoceles. Resection and repair were performed in 35 patients by general surgeons who had no facilities for vertriculoperitoneal shunts in infants with hydrocephalus. Thirteen children died in the hospital, 3 moved away, and 34 were lost to follow-up at 1 month. Only 3 were seen up to 1 year. Improvement in the care of such patients is expected since a neurosurgical unit has now been established.

Encephalocele↗
PubMed1980

Goldenhar syndrome and hemifacial microsomia: observations on three patients.

Three patients with oculoauriculovertebral dysplasia (Goldenhar) or hemifacial microsomia are presented. One had ocular, oral and auricular anomalies; another had vertebral malformations in addition to ocular and oro-auricular anomalies, and in a third only oro-auricular malformations were evident. The oculoauriculovertebral malformation complex is regarded as a variety of bilateral hemifacial microsomia, with the vertebral defects, the rate occipital encephalocele and cleft of lip and palate presumably representing midline interaction between the 2 fields. Hemifacial microsomia is a causally non-specific developmental field complex (DFC) which usually occur sporadically, but can also be seen as an autosomal dominant trait and as a component manifestation in the 18 trisomy syndrome. Pathogenetic and therapeutic considerations are also discussed.

Abnormalities, Multiple↗
PubMed1996

Glial heterotopias of the nose: a report of two cases.

Two neonates are presented who had glial heterotopias of the nose, one with and the other without intracranial connections. It is important to distinguish these malformations from nasofrontal encephaloceles in order to avoid inadvertent exposure of the brain during surgical removal of the mass lesions. The distinction between them may not be clear clinically because of their similar pathogenesis.

Choristoma↗
PubMed1993

Orbital "blow-in" fracture: MRI.

A case of traumatic orbital encephalocele following a "blow-in" fracture is presented. Computed tomography (CT) and magnetic resonance imaging (MRI) findings are shown. Although CT was useful for identifying the orbital roof fracture, bone fragments and soft tissue abnormalities, MRI was more sensitive to brain herniation and an intraorbital haematoma.

Adult↗
PubMed1995

Uncommon posterior cranial fossa anomalies: MRI with clinical correlation.

The clinical and MRI findings in two cases of rhombencephalosynapsis (RS) and two of tectocerebellar dysraphia (TCD) with an associated occipital encephalocele were studied to elucidate the clinical picture and embryogenesis of these rare anomalies. To our knowledge, only one case of TCD [1] and four of RS [2, 3] examined by MRI during life have been reported. The clinical picture in the cases of RS was rather constant and there were similarities with TCD. Consideration of the embryogenesis of the neural tube suggests a temporal proximity of the abnormalities, with TCD arising at a slightly earlier time.

Cerebellum↗
PubMed2003

[The role of high-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in the diagnosis of preoperative and postoperative complications caused by acquired cholesteatomas].

The role of high-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in the diagnosis of preoperative and postoperative complications caused by acquired cholesteatomas will be described in this paper. The pre- and postoperative imaging of the temporal bone was performed with HRCT and MRI.HRCT and MRI were performed in the axial and coronal plane. MRI was done with T2 weighted and T1 weighted sequences both before and after the intravenous application of contrast material. All imaging findings were confirmed clinically or surgically. The preoperative cholesteatoma-caused complications depicted by HRCT included bony erosions of the ossicles, scutum, facial canal in the middle ear, tympanic walls including the tegmen tympani, and of the labyrinth. The preoperative cholesteatoma-caused complications depicted by MRI included signs indicative for labyrinthitis, and brain abscess. Postoperative HRCT depicted bony erosions caused by recurrent cholesteatoma,bony defects of the facial nerve and of the labyrinth, and a defect of the tegmen tympani with a soft tissue mass in the middle ear. Postoperative MRI delineated neuritis of the facial nerve, labyrinthitis, and a meningo-encephalocele protruding into the middle ear. HRCT and MRI are excellent imaging tools to depict either bony or soft tissue complications or both if caused by acquired cholesteatomas. According to our findings and to the literature HRCT and MRI are complementary imaging methods to depict pre- or postoperative complications of acquired cholesteatomas if these are suspected by clinical examination.

Brain Abscess↗
PubMed2004

Comparative physical maps of the human and mouse Meckel syndrome critical regions.

Meckel syndrome (MKS-OMIM 24900) is an autosomal recessive disease characterized by cystic kidneys, occipital encephalocele, polydactyly, and fibrotic changes of the liver, typically resulting in postnatal death. A Meckel syndrome critical region (MKS1) maps to human Chromosome (Chr) 17, in a region of homology to mouse Chr 11. Here we report the comparison of human Chr 17q23 with mouse Chr 11. We have generated physical maps of the human and mouse MKS1 critical regions. Additionally, we have created a transcript map of the MKS1 critical region in both species. By comparing these physical maps, we observe a high degree of similarity in gene order in the human and mouse Meckel syndrome critical regions. We have also examined the expression patterns of genes in the MKS1 region to assess their potential as MKS1 candidates. Finally, we have analyzed genes present in the other Meckel syndrome critical regions, MKS2 and MKS3, to determine whether any of the candidate genes for the three MKS loci have similar gene functions or are members of a common biological pathway.

Abnormalities, Multiple↗
PubMed2002

Transsphenoidal meningoencephalocele.

BACKGROUND: Encephaloceles are rare cranio-facial developmental anomalies. CASE REPORT: In this paper, we discuss the case of an 8-month-old girl affected by a transsphenoidal meningoencephalocele and try to give landmarks of the state of art in the surgical treatment of this rare pathology.

Abnormalities, Multiple↗
PubMed2004

Occipital extra- and intracranial lipoencephalocele associated with tectocerebellar dysraphia.

OBJECTS: Tectocerebellar dysraphism was first described by Padget and Lindenberg, together with occipital encephaloceles, cerebellar midline defects, tectal beaking, posterior kinked and displaced brainstem, and inverted cerebellum. We present a unique case of lipoencephalocele associated with tectocerebellar dysraphia and discuss the etiologies of both pathologies. The importance of the developmental comprehension of posterior fossa malformations is stressed. CASE REPORT: A 9-month-old girl in good health was referred for a huge occipital mass. On local examination, the patient had a rounded mass about 10 x 12 cm in size, covered by alopecic skin, with a small eccentric dimple without any discharge. Magnetic resonance imaging revealed a lipoencephalocele with an intra- and an extracranial part, associated with tectocerebellar dysraphia with no aspect of inverted cerebellum as originally described in the tectocerebellar dysraphia. Resection of the extracranial part of the lipoma was performed for esthetic reasons. The intracranial part remained in situ. CONCLUSION: The association of lipoencephalocele and tectocerebellar dysraphia is extremely rare. The functional prognosis seems to be less severe for this combination than for the isolated tectocerebellar dysraphia. This association favors the dysraphic theory for the embryogenesis of the lipoma. It seems safe to restrict the surgery of this bizarre malformation to its external part.

Cerebellum↗
PubMed2004

Triple neural tube defect--cranium bifidum with rostral and caudal spina bifida--live evidence of multi-site closure of the neural tube in humans.

OBJECTIVE: The coexistence of three neural tube defects (NTDs) in a single child is an exceptional event. A review of the literature revealed nine published "double" NTD cases, but no cases of "triple" NTDs have been reported to date. CASE REPORT: The rare case of a two-year-old boy with three distinct NTDs is presented. The boy had a 17x15x15-cm(3) parieto-occipital encephalocele, a small cervical myelomeningocele, and a 11x11x8-cm(3) thoracolumbar myelomeningocele. Hydrocephalus and Chiari II malformation accompanied the NTDs. All three lesions were surgically treated with good cosmetic results and satisfactory neurologic outcome. CONCLUSIONS: Current neural tube closure theories and models are reviewed in an attempt to better understand this extremely unusual coexistence. The multi-site closure model is clearly more useful in our understanding of NTDs.

Child, Preschool↗
PubMed1998

Meckel-Gruber syndrome.

Meckel-Gruber syndrome is a congenital disorder characterized by occipital encephalocele, polydactyly and polycystic kidneys. This rare syndrome has been reported in the literature as incompatible with life. We present the case of a newborn afflicted with the clinical triad of Meckel-Gruber syndrome. Appropriate treatment instituted in our case led to a good early outcome.

Encephalocele↗