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PubMed1977

Nasal glioma.

Six cases of nasal gliomas, which are rare ectopic rests of neural tissue found at the root of the nose, are presented. It is important to distinguish nasal tumors from basofrontal encephaloceles to avoid inadvertent exposure of the brain during the surgical removal of mass lesions. Because of their related embryologic origins, the distinction between nasal gliomas and basofrontal encephaloceles may not be clear clinically. Nasal gliomas may be treated by several surgical specialties, and only a proper awareness of their relatonship to encephaloceles can assure the selection of a flexible and adequate surgical approach. This paper emphasizes the salient clinical characteristics of nasal gliomas, their clinical distinction form and embryologic relationship to encephaloceles, and the options for treatment.

Diagnosis, Differential↗

PubMed2000

[Occurrence of cleft defects of the central nervous system in the Czech Republic 1961-1999. Incidence, prenatal diagnosis and prevalence based on maternal age].

OBJECTIVE OF STUDY: Presentation of the incidence of neural tube defects (anencephaly, spina bifida, encephalocele) in the Czech Republic in 1961 to 1999. Analysis of the prevalence of these defects in different groups by maternal age. TYPE OF STUDY: Retrospective demographic-epidemiological study. METHOD: Epidemiological analysis of the incidence of neural tube defects diagnosed prenatally and postnatally in the Czech Republic in 1961-1999. Mathematical and statistical analysis of these defects by maternal age, the method of 95% confidence probability interval was used. Data from the nationwide register of inborn defects were used assembled in the Institute of Health Information and Statistics of the Czech Republic and data on the prenatal diagnosis from different departments of medical genetics. RESULTS: In the Czech Republic in 1961-1999 4629 cases of neural tube defects were recorded. This number comprised 1812 cases of anencephaly, 2420 cases of spina bifida and 397 cases of encephalocele. Of this total number of notified defects 386 cases of anencephaly were diagnosed prenatally and pregnancy was terminated. In spina bifida thus 261 pregnancies were terminated prematurely, in encephalocele 67 cases. CONCLUSION: A significant reduction of the incidence of anencephaly, spina bifida and encephalocele in the Czech Republic was found during the last decade of the investigation period (1961-1999). This decline is most probably due to advances of primary and secondary prevention. When evaluating maternal age as one of the risk factors for the development of neural tube defects, this risk was neither unequivocally confirmed nor ruled out.

Abortion, Eugenic↗

PubMedDate not supplied

Chiari III malformation: imaging features.

PURPOSE: To analyze and discuss the MR and CT features of Chiari type III malformations. PATIENTS AND METHOD: MR and CT studies in nine neonates born at term with Chiari type III malformations were retrospectively reviewed. RESULTS: High cervical/low occipital encephaloceles were present in all cases. Hypoplasia of the low and midline aspects of the parietal bones was seen in four patients. The encephaloceles contained varying amounts of brain (cerebellum and occipital lobes, six cases; cerebellum only, three cases), ventricles (fourth, six cases; lateral, three cases), cisterns, and in one case, the medulla and pons. Associated anomalies included: petrous and clivus scalloping (five cases/nine cases), cerebellar hemisphere overgrowth (two cases/nine cases), cerebellar tonsillar herniation (three cases/seven cases), deformed midbrain (nine cases), hydrocephalus (two cases/nine cases), dysgenesis of the corpus callosum (six cases/nine cases), posterior cervical vertebral agenesis (three cases/eight cases), and spinal cord syrinxes (two cases/seven cases). In four patients who underwent surgical resection and closure, aberrant deep draining veins and ectopic venous sinuses within the encephaloceles were found. Pathology examination of the encephalocele (four cases/nine cases) showed multiple anomalies (necrosis, gliosis, heterotopias, meningeal fibrosis) that were not demonstrable by either MR or CT. The marked disorganization of the tissues contained within the cephalocele may account for the lack of MR sensitivity to these abnormalities. CONCLUSION: Preoperative determination of the position of the medulla and pons is essential and is easily accomplished by MR. To avoid surgical complications, the high incidence of venous anomalies should be kept in mind.

Cerebellum↗

PubMed1998

Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases.

The association of optic disc abnormalities with basal encephaloceles, specifically of the sphenoethmoidal type, and midline facial clefts has rarely been reported, although the association of midline facial clefts with encephaloceles is well described. We now report six cases of children, three males and three females, presenting with a sphenoethmoidal encephalocele, optic disc anomalies, midline facial clefting, hypertelorism, complete or partial agenesis of the corpus callosum, and endocrinological disturbances, including diabetes insipidus and pituitary dysfunction. This report underlines the importance of careful ophthalmic and endocrinological investigation of children with midline clefts associated with basal encephaloceles. These cases may represent a distinct entity within the spectrum of frontonasal dysplasia.

Abnormalities, Multiple↗

PubMedDate not supplied

[A cause of neonatal respiratory distress: cerebral tissue heterotopia in the cavum].

BACKGROUND: Brain heterotopia can be reflected in disturbances of the oropharynx during the neonatal period, such as acute upper airway obstruction. The main differential diagnosis is encephalocele, which must be recognized before undertaking any surgical procedure. CASE REPORT: A boy, aged 5 days, with a cleft palate and bifid uvula, was admitted for respiratory distress. The distress initially occurred during bottle-feeding, but later became permanent. A solid mass, seemingly implanted in the superior wall of the pharynx, was successfully removed by forceps. A later CT scan showed the absence of any defect in the cribriform plate, thus excluding diagnosis of encephalocele. Histological, examination of the mass showed glial tissue without neurons. CONCLUSION: The presence of a pharyngeal mass in a newborn signals three possibilities: teratoma, heterotopic brain tissue or encephalocele. Encephalocele must by ruled out by a preoperative CT scan with a water soluble contrast agent in order to avoid CSF leakage and meningitis. Respiratory distress should be treated by oral endotracheal intubation to allow time for CT scan investigation.

Brain↗

PubMed2004

Evolutions in the management of congenital intranasal skull base defects.

BACKGROUND: Congenital skull base defects have traditionally been treated via an intracranial approach. Recent advances in endoscopic management have made minimally invasive extracranial approaches feasible, with less morbidity. OBJECTIVE: To determine the success of endoscopic treatment of congenital cerebrospinal fluid leaks and encephaloceles. MAIN OUTCOME MEASURES: Retrospective review of congenital cerebrospinal fluid leaks and encephaloceles treated from January 1, 1992, to December 31, 2003. Data collected include demographic characteristics, presenting signs/symptoms, site of the skull base defect, surgical approach, repair technique, and clinical follow-up. RESULTS: Eight patients were treated via the endoscopic approach for congenital cerebrospinal fluid leaks and encephaloceles. The average age at presentation was 6 years (range, birth to 18 years). Three patients presented with meningitis (average age, 6 years), 4 had cerebrospinal fluid rhinorrhea, and 3 developed a nasal obstruction. Five defects originated at the foramen cecum, and 3 others involved the ethmoid roof/cribriform plate only. Our endoscopic approaches were successful on the first attempt, with a mean follow-up of 19 months. One patient experienced nasal stenosis postoperatively. CONCLUSIONS: Continuing progress in the surgical management of congenital skull base defects demonstrates that endoscopic repair is a successful alternative to traditional craniotomy approaches, with less morbidity. This technique requires meticulous preparation and precise grafting of the defect to avoid collateral damage to surrounding structures. While reduction in the risk of meningitis, intracranial complications, and facial growth abnormalities and alleviation of nasal obstruction necessitate the timely repair of these skull base defects, special considerations are discussed regarding the optimal timing of surgical intervention, operative working space, and exposure in a smaller nasal cavity.

Adolescent↗

PubMed2006

Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, China.

BACKGROUND: In the past, northern China's Shanxi Province has reported the highest incidence of neural tube defects (NTDs) in the world. However, little is known about the epidemiology of NTDs in this area in recent years. METHODS: Data were collected from a population-based birth defects surveillance system in 4 counties that captures information on all live births, stillbirths of at least 20 weeks' gestation, and pregnancy terminations at any gestational age resulting from prenatal diagnosis of a birth defect. We also surveyed mothers of NTD case patients to determine their use of folic acid before and during early pregnancy. RESULTS: During 2003, 160 NTD cases were identified among 11,534 births (NTD birth prevalence = 138.7/10,000 births). The rates of anencephaly, spina bifida and encephalocele were 65.9, 58.1, and 14.7 per 10,000, respectively, and a female predominance was observed among anencephaly cases (male-to-female relative risk [RR], 0.49; 95% confidence interval [CI], 0.30-0.79), but not among spina bifida (RR, 0.90; 95% CI, 0.55-1.45) and encephalocele (RR, 1.03; 95% CI, 0.40-2.69) cases. The percentages of pregnancy termination following prenatal diagnosis of anencephaly, spina bifida, and encephalocele were 50%, 41.8%, and 35.3%, respectively. NTD birth prevalence tended to be higher among mothers aged <20 or > or =30 years (P = .06) and was markedly associated with lower levels of maternal education (P < .001). Among 143 NTD mothers, only 6 (4.2%) used folic acid supplements during the periconceptional period. CONCLUSIONS: The NTD birth prevalence rate in the study area is among the highest worldwide. Folic acid deficiency may be one important risk factor.

Abortion, Induced↗

PubMed1981

Prenatal morphology in Meckel's syndrome.

Prenatal morphology of Meckel's syndrome was studied in five fetuses of different gestational age, that had been aborted because ultrasonography and elevated amniotic AFP-levels indicated neural tube defect. Histologically, the enlarged polycystic kidneys were completely alike with respect to the type of involvement and differed only in the severity of changes. They could be identified at type III cystic kidneys according to the classification of Potter. Proliferation of hepatic bile ducts and slight cystic dilatation of pancreatic ducts is already evident in the youngest fetus. Additional cyst formation in the epididymis was found in one of the cases. Occipital encephalocele, located within an apical occipital bone defect was always associated with a second mostly occult encephalocele protruding through a separated defect of the basal occipital squame and of the first and second vertebral arch. It is assumed that double encephalocele represents a constant finding in Meckel's syndrome, indicating a specific pattern within the disturbance of neural tube closure.

Abnormalities, Multiple↗

PubMed1982

An epidemiologic study of neural tube defects in Los Angeles County II. Etiologic factors in an area with low prevalence at birth.

Epidemiologic characteristics of neural tube defect (NTD) births occurring in Los Angeles County, California, residents during the period 1966-1972 are presented. The prevalence at birth was 0.52/1000 births for anencephalus, 0.51/1000 for spina bifida, and 0.08/1000 for encephalocele, rates considered to be low for a predominantly white population. We hypothesized that environmental (nongenetic) factors are of less etiologic importance in a low-prevalence population than in areas or time periods with high prevalence. We tested that hypothesis by examining epidemiologic characteristics of NTDs in Los Angeles County and comparing them with high-prevalence populations. The data did not support a major etiologic role for environmental factors: (1) no significant differences between rates by month of birth or conception; (2) no significant association with maternal age or parity for anencephalus; for spina bifida a significant maternal age effect (P less than 0.01) and for encephalocele a parity effect (P less than 0.02); and (3) no significant relationship with father's occupational class for either anencephalus or encephalocele but a marginally significant (P less than 0.05) inverse association for spina bifida when a statistic based on ordinal relationships was used. Findings supporting the importance of genetic factors in etiology included: (1) a high percentage of males; (2) a higher twin concordance rate than in high-prevalence populations; and (3) an anencephalus rate among blacks comparable with rates for blacks in other United States populations. Our findings in conjunction with those from other areas and times of low prevalence suggest environmental factors play a relatively insignificant role in the etiology of NTDs in such populations.

Anencephaly↗

PubMed1988

Central nervous system malformations induced by triamcinolone acetonide in nonhuman primates: pathogenesis.

The pathogenetic sequence for TAC-induced encephalocele is in agreement with hypotheses proposing that neural tube closure is followed by protrusion of the mesencephalon, with subsequent growth and development resulting in herniation of the cerebrum and cerebellum. This model could serve to clarify the pathogenesis of encephalocele and to stimulate further study in comparing this defect to other dysraphic states. Triamcinolone acetonide (TAC) was administered intramuscularly (10 mg/kg) to 16 pregnant rhesus monkeys (Macaca mulatta) for 5 alternate days of pregnancy, beginning on gestational day (GD) 23. Conceptuses were removed by hysterotomy at GD 35, 42, 50, or 70 and examined grossly and histologically. Length, area, and perimeter of the tectum and aqueduct area and perimeter were measured with an image analyzer. Changes in treated specimens were suggestive of forces within or ventral to the tectum resulting in dorsal protrusion, rostral-posterior stretching, and attenuation. The angle of the cephalic, pontine, and cervical flexures was also measured. The more acute angle of the cephalic flexure and less acute cervical flexure of treated specimens could represent altered orientation secondary to a mesenchymal deficiency. However, the less acute angle of the pontine flexure in treated specimens suggests an intrinsic alteration in the neural tube. This suggests that encephalocele may result from a combination of mesenchymal and neural tube abnormalities.

Animals↗

PubMed1987

A cohort study of neural tube defects (NTD) in Denmark covering the first seven years of life.

In the County of Fyn, Denmark, which is a well-delimited region comprising a 10% representative sample of the total population, ten complete one year cohorts of newborn were scrutinized for neural tube defects (NTD). Among 66,000 births, 71 cases with NTD were observed. The total prevalence at birth was 1.08/1,000; 0.29 for anencephaly; 0.20 for encephalocele, and 0.59 for spina bifida (SB). This is at the same level as in other Scandinavian countries. Considering only neonates born alive, 57% of the total survived until the age of 7 years, disregarding anencephaly, but only 4 of 18 SB cases and 6 of 11 encephalocele cases had no handicaps at age 7. On the average, SB patients spent 9% of their life before the age of 7 years in hospitals and encephaloceles 2%. The SB cases occupied 25 times more beds per year than the comparable age group in general and many were likely to need continued medical and social care.

Anencephaly↗

PubMed1995

Neurosurgical management of Walker-Warburg syndrome.

The Walker-Warburg syndrome (WWS) is a lethal complex of the central nervous system and the eyes. At present its cause is unknown, but clinical evidence strongly suggests that it is an autosomal-recessively inherited disorder. We report a series of nine children with WWS. The diagnosis was established by the detection of lissencephaly, hydrocephalus, and cerebellar malformation on computed tomography. All children exhibited profound psychomotor retardation and ocular abnormalities (in their anterior or posterior eye chambers). The existence of an occipital encephalocele in eight cases was the main diagnostic clue to WWS. Six patients were investigated for the presence for congenital muscular dystrophy, which was confirmed in only four of them. There were no patients with a cleft lip or palate. We studied the incidence of WWS in Spain and estimated it at 0.21 cases per 10,000 live-born children. In our series, WWS was prevalent in the Spanish gypsy population. Consanguinity was present in five of seven affected families. In a case of pregnancy with twins, one of the siblings was unaffected. Eight patients were treated with ventriculoperitoneal shunts and seven underwent encephalocele repair. Histological study of the excised encephaloceles demonstrated two different patterns. Interestingly, one of the infants showed coronal craniosynostosis. Finally, we include in the appendix, for completeness, a report of the case of the sibling of a WWS patient with acrania-exencephaly.

Brain Diseases↗

PubMed1998

Surgical treatment of cerebrospinal fluid fistulae involving lateral extension of the sphenoid sinus.

OBJECTIVE AND IMPORTANCE: Four cases of spontaneous cerebrospinal fluid rhinorrhea caused by communication between the subarachnoid space of the middle cranial fossa and a lateral extension of the sphenoid sinus are presented. The cause and management of this unique type of cranial base defect are discussed. CLINICAL PRESENTATION: During the past 10 years, four patients referred to our institution with atraumatic cerebrospinal fluid fistulae were observed to have temporal encephaloceles (encephalomeningoceles) traversing the floor of the middle cranial fossa. Three of the patients had previously undergone unsuccessful transnasal attempts to repair their fistulae by obliteration of the sphenoid sinus. The fourth patient presented before undergoing any treatment. No patient had associated hydrocephalus or tumor. Preoperative computed tomographic cisternograms revealed that all fistulae involved a lateral extension of the sphenoid sinus into the floor of the middle cranial fossa. INTERVENTION: After definitive localization, each patient was operated on transcranially through an anterior middle cranial fossa approach with extradural and/or intradural exploration. The associated temporal encephalocele was amputated or disconnected, and the dehiscent dura and middle cranial fossa floor defect were oversewn and packed with autogenous tissue, respectively. CONCLUSION: The surgical treatment of cerebrospinal fluid rhinorrhea secondary to middle fossa encephalocele associated with lateral extension of the sphenoidal sinus differs from the surgical strategy for more medial sphenoidal fistulae. Fistulae involving a lateral extension of the sphenoid sinus require a transcranial approach for direct visualization and obliteration of the defect, whereas fistulae involving the central portion of the sinus may be successfully obliterated transsphenoidally.

Adult↗

PubMed1998

Optic disc anomalies and frontonasal dysplasia.

AIMS: To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. METHODS: Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; absent corpus callosum; basal (sphenoethmoidal) encephalocele; and pituitary deficiency (five out of six cases). Ophthalmic examination was performed with fundal photography where possible. RESULTS: Two patients had unilateral and one a bilateral peripapillary staphyloma. Two patients had bilateral optic disc hypoplasia and one appeared to have a peripapillary staphyloma in one eye and a morning glory disc in the other. CONCLUSION: Optic disc abnormalities were found in all patients with this constellation of clinical findings. This association appears to represent a distinct subgroup within the spectrum of frontonasal dysplasia. The presence of midline facial anomalies and any dysplastic disc should alert the physician as to the presence of an encephalocele.

Abnormalities, Multiple↗

PubMed1995

Congenital midline nasofrontal mass. Two case reports with a clinical review.

Because of aberrant embryologic development, encephalocele, nasal dermoid, and glioma may present as a nasofrontal midline mass in a newborn infant. Though uncommon, vascular malformation or hemangioma in the nasofrontal region may present similarly. The correct diagnosis and early management of a nasofrontal mass is imperative because complications such as brain herniation, hypertelorism, or cerebrospinal fluid rhinorrhea may ensue, resulting in poor facial or visual development, recurrent meningitis, and brain abscess. Nasofrontal encephalocele and midline frontal vascular malformation are rare congenital abnormalities presenting as a midline nasofrontal mass. We report two neonatal cases, one a frontoethmoidal encephalocele and another, a frontal vascular malformation. Both had uncomplicated surgical interventions. The physical findings and clinical review are presented. The diagnostic approach toward midline nasofrontal mass is discussed.

Cerebellum↗

PubMed1985

Diagnosis and treatment of iatrogenic cerebrospinal fluid leak and brain herniation during or following mastoidectomy.

Iatrogenic brain herniation, with meninges (meningoencephalocele) or without meninges (encephalocele), following mastoidectomy is rare. However, the seriousness of the complication and the potential for its prevention necessitate periodic review and emphasis. In this study, 6 patients with small iatrogenic dural injury during mastoidectomy, 1 patient with postoperative large encephalocele, and 2 patients with three spontaneous meningoencephaloceles are reviewed. These cases, and the literature, support the following: 1. A dural injury is necessary for herniation. 2. If the arachnoid remains intact, a meningoencephalocele results with the potential for cerebrospinal fluid leak into the middle ear and recurrent meningitis. 3. If the arachnoid is not intact, an encephalocele results which presents predominantly as a mass without a cerebrospinal fluid leak. 4. The dura and arachnoid may be torn during mastoidectomy, resulting in an immediate cerebrospinal fluid leak that can go easily unrecognized. Taking time to carefully inspect any area of dural exposure obviates this oversight. 5. A satisfactory technique of tegmen and dural-arachnoid repair in these ten cases is described.

Cerebrospinal Fluid Otorrhea↗

PubMed1986

"Nasal gliomas" and related brain heterotopias: a pathologist's perspective.

Brain heterotopias are rare congenital malformations embryologically related to encephaloceles. They present as a mass in or about the nose (nasal glioma) or in the nasopharynx. We present the clinical and pathological features of 5 cases of heterotopic brain tissue. Four nasal gliomas consisted of mature neuroglial tissue, including neurons in 2 cases, embedded in a fibrovascular stroma. A nasopharyngeal brain heterotopia showed histologic features of mature neuroglial tissue including neurons and ependymal-lined cystic structures. The finding of mature neuroglial tissue in a mass from the head and neck region raises three differential diagnostic possibilities: teratoma, encephalocele, or heterotopic tissue. A teratoma can be ruled out by examination of the entire specimen. Encephaloceles and brain heterotopias can be distinguished only after correlation with the patient's clinical and radiologic findings.

Brain↗

PubMed1983

Sphenoethmoidal cephalocele with cleft palate: transpalatal versus transcranial repair. Report of two cases.

Two cases of sphenoethmoidal encephalocele with cleft palate are reported in detail. The encephaloceles had prolapsed into the nose and nasopharynx, and protruded into the mouth. Previous examples of this entity are reviewed. Such patients have a typical facial appearance: hypertelorism, median cleft lip, and bifid nose of varied severity. Ocular findings include coloboma of the optic nerve or anophthalmia. The prolapsed cerebral tissue varies from nonfunctional glia elements to vital structures of the hypothalamus-pituitary area. Agenesis of the corpus callosum has been reported consistently. Transcranial access to the bone defect, particularly its posterior portion, is difficult because of distorted cerebral anatomy and abnormal vasculature. The fragility of the prolapsed cerebral tissue makes it difficult to preserve the cerebral tissue intact and to reposition it into the cranium. When there is a cleft palate, it is possible to repair the encephalocele extracranially through a transoral, transpalatal approach, preserving and repositioning the content of the sac. Dural closure and obliteration of the bone defects are other essential steps of the operation. Both patients reported here were successfully operated on by the transoral, transpalatal route, at the age of 3 months and 4 years, respectively. They were followed for several years and had comprehensive endocrinological work-ups. One patient exhibited some pituitary deficiency requiring substitution therapy.

Child, Preschool↗