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PubMed1987

Developmental analysis of cephalic axial dysraphic disorders in arsenic-treated hamster embryos.

Parenteral injection of pregnant golden hamsters with inorganic arsenic salts early in gestation results, by term, in markedly elevated embryonic-fetal mortality (approximately equal to 50%) and, in surviving fetuses, a high (approximately equal to 90%) incidence of cephalic axial dysraphic disorders ("neural tube defects"), particularly exencephaly/anencephaly and encephaloceles. The present investigation traces the day by day development of these embryopathic effects of arsenic in the hamster with an emphasis on the pathogenesis of cephalic axial dysraphic disorders. Pregnant golden hamsters were given an intraperitoneal injection of sodium arsenate (20 mg/kg) on the 8th day (08.00) of their 16 day gestation period. Matched control dams were injected with an equivalent volume of distilled water by the same route and at the same stage of gestation. Experimental and control dams were sacrificed beginning 24 h after treatment and at regular daily intervals thereafter until term. Embryos and fetuses delivered from sacrificed dams were examined for abnormalities both grossly and histologically. In embryos delivered earliest after treatment (24-48 h) the principal deleterious effect of arsenic observed was retarded growth (elevation, approximation, and fusion) of the cephalic neural folds. This growth retardation ranged in severity among embryos. In the most severely afflicted there was a site wherein the opposing cephalic neural folds had completely failed to appose and fuse ("closure"). This failure of closure of all four tissue components of the neural folds (surface ectoderm, paraxial mesoderm, neural crest cells, neuroectoderm) resulted in a persistent dorsal opening in the head, i.e., cranioschisis aperta. The extent and appearance of this opening varied from a small, ovoid aperture in the dorsal midbrain (mesencephalic) region of the head to a widely open cleft involving the fore and hindbrain regions as well as the midbrain region. In less severely afflicted early embryos, the cephalic neural folds had elevated and met in the dorsal midline but had only incompletely fused, i.e., cranioschisis occulta. Microscopic study of these latter embryos revealed that in the affected region(s), complete closure of the surface ectoderm component of the neural folds had taken place, but only partial closure of the mesoderm, neural crest and neuroectoderm components. The different types of cephalic axial dysraphic disorders presenting in arsenic-treated fetuses delivered at later gestational stages (predominantly exencephaly and encephaloceles) could all be traced back and related to one or the other of these early forms of disturbed neurulation.

Abnormalities, Drug-Induced↗

PubMed1995

Intranasal (transethmoidal) encephalomeningocele. Case report.

Intranasal encephaloceles are rarely encountered in pediatric neurosurgery. The symptoms and clinical features may mimic those of nasal polyp. It is important to know the type of basal encephalomeningocele for appropriate surgical intervention. Computed tomographic examination is helpful for differential diagnosis of the encephalocele sac and localization of the cranial bone defect.

Craniotomy↗

PubMed1992

Late posttraumatic nonvascular pulsating eye.

A patient is reported with unilateral intermittent pulsating eye caused by the combination of an orbital encephalocele and hydrocephalus, thirty four years after a head injury. Treatment of the hydrocephalus resulted in disappearance of the eye pulsations and encephalocele, as well as in improvement of the gait.

Cerebrospinal Fluid Shunts↗

PubMedDate not supplied

Cephaloceles: classification, pathology, and management.

A cephalocele is defined as a herniation of cranial contents through a defect in the skull. Cephaloceles are classified according to their contents and location. We have reviewed a total of 112 patients with cephaloceles, 51 of whom had sincipital meningoencephaloceles (fronto-ethmoidal meningoencephaloceles). This group is distinctive in its demographic distribution, in the effect on growth of other facial structures, and in the combined craniofacial approach needed to treat them. This review is based on the sincipital encephaloceles with the other cephaloceles included for completeness. Despite many theories, the cause of congenital cephalocele is not known. Preoperative work-up includes 3-dimensional computed tomography scan of the facial skeleton, and surgical management is multidisciplinary in nature. The aim is to remove the lesion before the deformity has time to greatly distort facial growth, which appears to realign itself after surgery. The 50 patients who underwent surgery for fronto-ethmoidal encephalocele all survived with minimal complications.

Encephalocele↗

PubMed1998

[Median craniofacial clefts. Therapy recommendations and late outcome].

Median craniofacial clefts are classified as median facian cleft deformities and are characterized by clefts of the nose involving the skull base. They can be accompanied by hypertelorism and/or encephaloceles. From a total of 22 of our patients with median deformities, three encephaloceles and two severe median nasal clefts with hypertelorism were considered in 2- to-8-year-olds. Two children with severe brain deformities died before the commencement of therapy. The remaining median deformities were corrected as soon as possible, whereby exclusively soft-tissue surgery was performed during the first year of life and in no case later than school admittance. Final corrections on the nasal skeleton were made after the age of 12. No growth disturbances of the middle face or jaw occurred subsequent to craniotomies and corrections of hypertelorism. Plate osteosynthesis has proven to be the most reliable method of stabilization; we removed the osteosynthetic material in all cases. The multiplicity of possible deformities requires that procedures be tailored to the individual case.

Adolescent↗

PubMed2000

Transsphenoidal cephaloceles in adults. A report of two cases and review of the literature.

Transsphenoidal cephalocele rarely occurs in adults. We describe two adult cases with transsphenoidal cephaloceles. The first case was a 53-year-old female who presented with spontaneous cerebrospinal fluid (CSF) rhinorrhea. Magnetic resonance (MR) imaging demonstrated a transsphenoidal meningocele. Surgical repair was attempted via the transsphenoidal route. Rhinorrhea recurred at one month and also two years later. Transsphenoidal surgical repairs were repeated. There has been no evidence of CSF leakage in the four years of follow-up after the last surgery. Transsphenoidal repair seems to be the most suitable approach in this case. The second case was a 26-year-old female with secondary amenorrhea, diabetes insipidus, bitemporal hemianopsia, and see-saw nystagmus. MR imaging demonstrated a transsphenoidal encephalocele with the optic chiasma and infundibular recesses descending into the meningocele and an agenesis of the corpus callosum. The first operation was performed via the transnasal route and the second by sublabial transmaxillary transsphenoidal approach six months later. Postoperative MR imaging revealed reduction of the encephalocele. There was neither worsening nor noticeable improvement in the neurological or endocrinological function. However, in this type, complete repair is often impossible, and non-radical surgery such as transsphenoidal repair may be indicated as most suitable. They should be selected with careful assessment referring to MR findings and clinical symptoms and signs.

Adult↗

PubMedDate not supplied

Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly.

Meckel syndrome (MIM 249.000) is an autosomal recessive disorder with a variable spectrum of anomalies. Since the first reports of this syndrome, very broad diagnostic criteria have been proposed, but the process of defining them continues. It is probable that at least two of three manifestations, including cystic kidney dysplasia, occipital encephalocele or other anomaly of the central nervous system, and postaxial polydactyly occur in most cases. Arrest of the development of intrahepatic bile ducts at the stage of the bilaminar plate formation or ductal plate malformation is considered of high diagnostic value in Meckel syndrome, but there is no complete agreement in the literature about its occurrence. The aims of this investigation were to study the prevalence and morphologic patterns of ductal plate malformation of the liver in Meckel syndrome by evaluating the dilatation of primitive biliary structures and the increase in connective tissue of the portal tract. Archival data files from four German centers (Berlin, Freiburg, Heidelberg, Mainz) were reviewed. Liver sections of 30 well-studied fetuses with Meckel syndrome were immunostained with antibodies against cytokeratins (intermediate filaments of the cytoskeleton) and factor VIII (an endothelial cell marker) and were evaluated both qualitatively and quantitatively. Cystic kidney dysplasia, occipital encephalocele, and postaxial polydactyly were found in 100%, 90%, and 83.3% of the fetuses, respectively. Ductal plate malformation of the liver was a constant anomaly in Meckel syndrome, seen as frequently as renal lesions. We observed essentially two kinds of hepatic lesions: 23 cases showed mainly a cystic dilatation of primitive biliary structures with little portal fibrosis, while 7 cases showed mainly rings of interrupted curved lumina around a central fibrovascular axis and pronounced portal fibrosis. In these seven cases an abnormal pattern of the portal vein, with many small and closely spaced branches of the portal vein (the so-called pollard willow pattern), was also seen. With respect to other fetal developmental anomalies, no difference between the two types of lesions was found. We also provide a potentially useful comprehensive review of other genetic syndromes in which ductal plate malformations may occur.

Abnormalities, Multiple↗

PubMedDate not supplied

[Normal and pathological ultrasonography of the fetal brain].

Advanced ultrasonic technology enabled the bidimensional imaging of fetal brain throughout pregnancy. The number of visible structures increases with gestational age. In order to certify the described items they were compared to similar anatomical sections available from brain specimens or an atlas of anatomy. Real-time as well as automatic compound scanning machines were used to obtain echographic images of fetal brain anatomy in utero. Many different scans were collected along three orthogonal directions: every 2 mm, with the automated compound scan and as close from each other as possible with the linear array real-time scanner. The material included 59 normal fetuses between the 15th and 40th week of gestation. Eight typical sections are made but the only structures identified are those being visible on every section obtained at the same level. Brain structures such as grey and white matter, nuclei, vessels and ventricles have different sonic properties. They are subsequently distinguishable on the ultrasonic image if the equipment is capable of detecting and showing such differences. Grey matter is more echogenic than white, choroid plexuses are very reflective as are vessel walls which also pulsate. Four horizontal sections are described in detail (Figs. 2-7). The coronal planes are demonstrated at three different levels (Figs. 8-12) and the sagittal plane is represented by Fig. 13. Thirty five structures were identified (Table 2). In the second section some brain and skull anomalies are briefly described. The principal signs of the abnormalities and possible encountered variations are listed such as cranial defects in anencephaly, acrania, encephalocele, iniencephaly; the anomaly of size and shape of head and ventricle, as in hydrocephaly and microcephaly, cystic-like- and solid-tumor lesions and Dandy Walker syndrome and hydranencephaly. Attention is drawn to possible artifacts and pitfalls in the differential diagnosis between similar looking pictures. Examples are given such as noise in the near field, occurring more often in sectorscan machines, inadequate orientation of scan plane producing asymetrical display of the hemisphere and the Sylvian fissure described as if it was the lateral ventricle wall. Anomalies can also be confused such as exencephaly, anencephaly, iniencephaly, encephalocele. An excellent knowledge of normal brain anatomy and pathology, together with excellent equipment and a careful scrutiny of the echograms are required qualities for fetal brain examination.

Anencephaly↗

PubMed1989

An unusual sincipital meningoencephalocele: a case report.

A congenital nasoglabellar mass is usually either a meningocele or an encephalocele. Occasionally, lipoma, sarcoma, dermoid, glioma, or scalp angioma may resemble an encephalocele. This report describes a rather unusual sincipital meningoencephalocele in an 8-month-old boy.

Abnormalities, Multiple↗

PubMed1999

Maternal immunopotentiation affects the teratogenic response to hyperthermia.

Immune responses occurring between the embryo and mother have been shown to influence the embryo's tolerance to teratogens, including chemical teratogens and diabetes-induced teratogenic insult. In this study, we tried to evaluate whether maternal immunostimulation alters the embryo's response to heat shock, one of few teratogens which directly affect the embryo. In order to induce structural anomalies, both intact ICR female mice and mice which had been immunostimulated with xenogeneic rat splenocytes before mating, were exposed to two consecutive exposures to heat (43.6 +/- 0.2 degrees C) for 10 min on day 9 of pregnancy. The number of malformed fetuses, resorptions, and fetal weight were assessed on day 19 of pregnancy. Heat shock-induced apoptosis, and the level of heat shock protein (HSP) 60 expression, were examined in embryonic cells at different time points within 24 h after heating. All these indices differed dramatically in immunized and non-immunized heat shocked females. Heat shocked non-immunized females demonstrated an increased level of resorptions (approximately, 21% versus 8.6% in controls) and the proportion of fetuses with such anomalies as encephalocele and open eyes reached 28% and 21%, respectively. Maternal immunostimulation was associated with a significant decrease in the proportion of fetuses with encephalocele (12.8%), open eyes (8.9%), and resorptions (8%). The maximum level of heat shock-induced apoptosis in cell populations from the embryos of non-immunized females, was approximately, 30% versus 7% in cells of embryos of immunized mice. Heat shock was also followed by a significant increase in HSP60 expression, but only in the cells of embryos of non-immunized females. Together, these findings suggest that the tolerance of mouse embryos to a heat shock-induced teratogenic insult may, to some extent, depend on the character of the maternal immune responses.

Animals↗

PubMed1998

Altered zinc metabolism contributes to the developmental toxicity of 2-ethylhexanoic acid, 2-ethylhexanol and valproic acid.

It has been hypothesized that the developmental toxicity of certain compounds is, in part, due to maternal toxicity resulting in alterations in zinc (Zn) metabolism that affects the developing conceptus. In the present work the effects of developmentally toxic doses of 2-ethylhexanoic acid (EHXA), 2-ethylhexanol (EHXO), and valproic acid (VPA) on Zn metabolism were investigated in the pregnant rat. In experiment 1, dams were intubated with EHXA (3.13, 6.25, 9.38 or 12.5 mmol/kg), EHXO (6.25, 9.38 or 12.5 mmol/kg), VPA (1.56, 3.13, 6.25 or 9.38 mmol/kg), or corn oil (control; 1.0 ml/kg) at 14:00 h on gestation day (GD) 11.5, intubated with 32 microCi 65Zn at 22:00 h, and then killed at 08:00 h on GD 12.5. At the higher dose levels of EHXA and EHXO, and at all dosages of VPA, the percentage of 65Zn retained in maternal liver was higher, while that in the embryos was lower, than in controls. Chemical-associated changes in 65Zn distribution were associated with increased maternal liver metallothionein (MT) concentrations. In experiment 2, dams were fed diets containing 1, 25 or 97 microg Zn/g from GD 0-16 and intubated with 3.5 mmol EHXA or 1.0 ml corn oil/kg/d from GD 8-15. Dams were killed on GD 16 or 19. High incidences of encephalocele and tail defects were noted in the GD 16 fetuses of EHXA-treated dams fed either the low or adequate Zn diet, the highest incidences being in the low Zn group. On GD 19 the incidence of tail defects tended to be higher in the EHXA groups than in oil-treated controls, the highest incidence occurring in the low Zn EHXA group. Encephalocele was only observed in the low Zn EHXA-treated group. Fetal weight and crown-rump lengths were decreased by EHXA treatment and low dietary Zn. The incidence of rib anomalies was higher in the EHXA-exposed groups than in their respective oil controls. In experiment 3, GD 10.5 embryos collected from control dams were cultured for 48 h in serum from control or EHXA-treated male rats fed 4.5 or 25.0 microg Zn/g diets. Embryos cultured in either EHXA or low Zn sera exhibited delayed development; the addition of Zn to these sera eliminated their developmental toxicity. These results support the hypothesis that certain chemicals which induce maternal toxicity act, in part, to influence embryonic Zn metabolism and trigger abnormal development. Importantly, the teratogenic effects of these chemicals can be modulated by dietary Zn intake.

Animals↗

PubMed2001

The Chiari III malformation: an unusual and asymptomatic variant in an 11-year old child.

Chiari III malformation is an extremely rare condition, and is characterized by the hindbrain herniation into a low occipital or high cervical encephalocele together with the pathologic and imaging features of the Chiari II malformation. In this report, an unusual variant of the Chiari III malformation was diagnosed in an 11-year-old girl. She had an encephalocele operation when she was a newborn, and has been asymptomatic since then. The clinical and imaging findings of this case were presented.

Brain↗

PubMed2001

Cerebral heterotopia appearing as an extranasal polyp.

Cerebral heterotopia represents a rare tumorlike lesion related in its development to the encephaloceles but differing from these by non-connection to the cranial cavity. We describe an unusual case of cerebral heterotopia appearing as a pedunculated polyp on the upper lip of a newborn. As the distinction between encephaloceles and cerebral heterotopias is based on the correlation of radiologic and clinical findings, the surgical treatment of tumorlike lesions of the nasal and pharyngeal region in children requires a careful preoperative evaluation of their possible connection to the cranial cavity.

Brain Neoplasms↗

PubMed1993

Survival in an infant with a prenatally diagnosed Meckel syndrome variant.

An infant with occipital encephalocele and unilateral multicystic kidney, diagnosed prenatally, was considered to have a variant of the Meckel syndrome (MS). This case is exceptional in that the infant was alive and healthy following surgical repair of the encephalocele, with normal function of the unaffected kidney, at age 5 months. Based on this experience, in fetuses or infants with MS, thorough evaluation of both kidneys is imperative prior to suggesting either termination of pregnancy, or withholding of life-sustaining medical treatment in infants already delivered.

Encephalocele↗

PubMed2000

Complications associated with labyrinthine fistula in surgery for chronic otitis media.

OBJECTIVE: Labyrinthine fistula (LF) is encountered during surgery for chronic otitis media (COM) with an average frequency of 7.5%. This study was undertaken to investigate the prevalence of coexisting complications with LF in surgery for COM. STUDY DESIGN AND SETTING: A retrospective review of 111 consecutive cases of COM surgery performed by the same surgeon in a large metropolitan teaching public hospital in the United States serving the inner city population. RESULTS: There were 23 (21%) LFs in 111 patients. The majority of cases were revision surgery with an average of 2.6 operations per patient. Other complications were encountered in 18 (78%) of the 23 patients with an LF: 5 (22%) encephaloceles, 9 (39%) dehiscences of the tegmen, 12 (52%) patients with facial nerve involvement by cholesteatoma, and 2 (8.7%) patients with facial nerve paralysis. These patients required extensive surgery for correction of their concurrent complications. CONCLUSION: Compared with those cases in which a fistula was not found, the ratio of the above complications were as follows: encephalocele, 1:9; facial nerve involvement by cholesteatoma, 1:11.3; facial nerve paralysis, 1:3.8. SIGNIFICANCE: Patients with neglected COM have an incidence of an LF twice that reported in the literature. The prevalence of associated complications with LF requiring extensive surgery is significantly higher than that observed in noncomplicated COM cases.

Chronic Disease↗

PubMed2005

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological features. The condition is genetically heterogeneous, and eight genes (BBS1-BBS8) have been identified to date. A mutation of the BBS1 gene on chromosome 11q13 is observed in 30%-40% of BBS cases. In addition, a complex triallelic inheritance has been established in this disorder--that is, in some families, three mutations at two BBS loci are necessary for the disease to be expressed. The clinical features of BBS that can be observed at birth are polydactyly, kidney anomaly, hepatic fibrosis, and genital and heart malformations. Interestingly, polydactyly, cystic kidneys, and liver anomalies (hepatic fibrosis with bile-duct proliferation) are also observed in Meckel syndrome, along with occipital encephalocele. Therefore, we decided to sequence the eight BBS genes in a series of 13 antenatal cases presenting with cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele. These fetuses were mostly diagnosed as having Meckel or "Meckel-like" syndrome. In six cases, we identified a recessive mutation in a BBS gene (three in BBS2, two in BBS4, and one in BBS6). We found a heterozygous BBS6 mutation in three additional cases. No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series. These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome.

Abnormalities, Multiple↗

PubMed1999

Neural tube defect prevalence in California (1990-1994): eliciting patterns by type of defect and maternal race/ethnicity.

This study presents race/ethnicity-specific prevalence estimates of neural tube defects (NTDs) in California using 5 years of population-based data. NTD prevalence estimates include prenatally diagnosed cases, as well as cases diagnosed at birth. The California NTD Registry contains NTD case reports identified through the California Maternal Serum Alpha-Feto Protein (AFP) Screening Program, the California Birth Defects Monitoring Program, and additional reports from clinicians and clinics throughout the state. These data were used to estimate NTD prevalence in a large population-based study (n = 1,618,279). The overall NTD prevalence among White, Black, Hispanic, and Asian women are reported, as well as race/ethnic prevalence, for anencephaly, spina bifida, and encephalocele. Rates are expressed as the number of cases per 1,000 women screened between 1990 and 1994. Among 1,457 women with an NTD-affected pregnancy, the overall rate for anencephaly, spina bifida, and encephalocele was 0.49 (95% CI 0.46-0.53), 0.42 (95% CI 0.38-0.45), and 0.08 (95% CI 0.07-0.09), respectively. When these types of NTDs are combined, Hispanic women had the highest overall rate (1.12, 95% CI 1.04-1.21), followed by Whites (0.96, 95% CI 0.89-1.04), Blacks (0.75, 95% CI 0.59-0.91), and Asians (0.75, 95% CI 0.60-0.90). Hispanic women were 45% more likely than White women to have a pregnancy affected with anencephaly (odds ratio = 1.45, 95% CI 1.24-1.70), while Asian women were over two times less likely to have a pregnancy affected with spina bifida (odds ratio = 0.44, 95% CI 0.29-0.65). Considerable variation exists in the prevalence of NTDs by race/ethnicity and by type of NTD, with Hispanic women exhibiting the highest overall NTD rate.

Anencephaly↗

PubMed1997

Localized vitiligo and frontoethmoidal meningoencephalocele.

A child with frontoethmoidal meningoencephalocele in whom localized facial vitiligo developed after surgical correction of the encephalocele is presented. The potential role of the ocular disease accompanying the encephalocele in the development of the hypopigmentation is discussed.

Child↗