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PubMed1988

Prenatal diagnosis and perinatal management of frontoethmoidal meningoencephalocele.

Frontoethmoidal meningoencephaloceles (FEM) are exceedingly rare in the western hemisphere, Australia, and Europe with an estimated frequency of 1 in 40,000 live births. Among the inhabitants of Thailand, Burma, Malaysia, Indonesia, and parts of the Soviet Union, however, the frequency is as high as 1 in 5000, accounting for 15% of all neural tube defects (NTD). Normal maternal serum alpha-fetoprotein (MSAFP) values usually will be found in these cases since most encephaloceles are closed, skin covered defects. Correct interpretation of the sonographic findings is crucial in establishing a diagnosis as well as giving prognostic and recurrence risk information. To our knowledge, this is the first reported case of prenatally diagnosed FEM. Perinatal management, differential diagnosis for disorders associated with this malformation, and epidemiologic information regarding this rare condition are discussed. It is anticipated that the prenatal sonographic findings may be applied to establish this diagnosis in similarly affected fetuses.

Adult↗

PubMed1980

[Craniofacial amniogenic malformations within the Adam complex (author's transl)].

Four children are described with amniotic deformities in the craniofacial region. Besides encephaloceles, hydrocephalus, facial clefts, amniotic bands and furrows we observed in three of these children the deformities of the extremities which are characteristic of amniogenic malformations, such as syndactylias and mutilations, associated with ring constructions. The article describes the state of knowledge with regard to pathogenesis. Epidemiology of the disease permits to assume a very low risk of repeat occurrence with the parents concerned.

Abnormalities, Multiple↗

PubMed1981

[The Meckel syndrome (author's transl)].

The Meckel syndrome is caused by an autosomal recessive gene. The three main features are encephalocele, polycystic kidneys and polydactyly. At least two of these should be present to establish the diagnosis. Several minor symptoms are observed in various combinations. The possibility of prenatal diagnosis is explained by a case report: A neural tube defect was diagnosed by ultrasonography and AFP-assessment in amniotic fluid whereas unfortunately the presence of polycystic kidneys was not recognized sonographically. The methods of today are able to detect the polydactyly but failed in this case. One can suggest that the complete prenatal diagnosis of the Meckel syndrome is not essential for clinical management since the presence of one major symptom will lead to legal abortion. The search for Meckel syndrome is important in cases of delivery of a child with multiple malformations, indicating a genetic counseling for each subsequent pregnancy.

Abnormalities, Multiple↗

PubMed1987

[Prenatal sonography and computed tomography of fetal cerebral malformations].

In three pregnant women, sonography and amniocentesis suggested cranial abnormalities of the foetuses. In view of the far-reaching consequences of such a diagnosis, CT was carried out to confirm the diagnosis. It was possible to show the intra-uterine abnormalities and the type of malformation in considerable detail. In one case an encephalocele was demonstrated, in the two others, an anencephalic foetus was shown.

Adult↗

PubMed2001

High incidence of complications encountered in chronic otitis media surgery in a U.S. metropolitan public hospital.

OBJECTIVES: To examine the incidence and nature of complicating factors in surgery for chronic otitis media (COM) in a metropolitan public hospital in the United States. METHODS: A retrospective review was performed over 2 years in a metropolitan public hospital to identify cases of surgery for chronic ear disease with the following complicating factors: intracranial or extracranial abscess, labyrinthine fistula, dural dehiscence with or without associated encephalocele or meningocele, or extensive involvement of the facial nerve by cholesteatoma with or without paralysis. RESULTS: Thirty-three of 90 consecutive operations for COM (37%) met criteria for complicated chronic otitis media (CCOM). The majority (85%) of patients had cholesteatoma involvement. Most patients (73%) were managed by an extended modified radical mastoidectomy. An additional 31 procedures were required in these 33 patients for control of complications. There was no iatrogenic sensorineural hearing loss or facial paralysis. CONCLUSIONS: The incidence of CCOM in this large, U.S. metropolitan public hospital is similar to that observed in developing nations. CCOM significantly complicates chronic ear surgery and substantially increases the use of resources. Maintaining functional hearing is possible, but difficult, and should be considered secondary to prevention of further complications and eradication of disease. Access to health care and proper follow-up are crucial in prevention of CCOM.

Adolescent↗

PubMed1997

Neural tube defect among Palestinians: a hospital-based study.

A preliminary study was undertaken to estimate the incidence of neural tube defect (NTD) among Palestinians living in East Jerusalem and the southern part of the West Bank (600,000 inhabitants). Between 1 January 1986 and 31 December 1993, all NTD in fetuses weighing more than 500 g or of more than 22 weeks gestation, whether the product of abortion, therapeutic termination, stillborn or liveborn, were included. Mothers' data recorded included age, parity, residential area, gestational age, obstetrical history and consanguinity. The study included 26,934 consecutive newborns registered at Makassed Hospital in the study period. There were 148 cases of NTD, an incidence of 5.49 per 1000 births. The female to male ratio was 1.5:1. The incidences of spina bifida, encephalocele and anencephaly were 2.23, 0.44 and 2.41 per 1000, respectively. The incidence of NTD increased with maternal age. This preliminary report reveals a high incidence of NTD in the Palestinian community and further monitoring is necessary to confirm these findings and implement suitable policies for the detection and prevention of NTD.

Adolescent↗

PubMed1998

A gene for Meckel syndrome maps to chromosome 11q13.

Meckel syndrome (MKS) is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii) enlarged kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and (iii) postaxial polydactyly. A gene responsible for MKS in Finland has been mapped to chromosome 17q21-q24. Studying a subset of Middle Eastern and northern African MKS families, we have recently excluded the chromosome 17 region and have suggested a genetic heterogeneity. In the present study, we report on the mapping of a second MKS locus (MKS2) to chromosome 11q13, by homozygosity mapping in seven families that do not show linkage to chromosome 17q21-q24 (maximum LOD score 4.41 at recombination fraction .01). Most interestingly, the affected fetuses of southern Tunisian ancestry shared a particular haplotype at loci D11S911 and D11S906, suggesting that a founder effect is involved. Our observation gives support to the clinical and genetic heterogeneity of MKS.

Abnormalities, Multiple↗

PubMed1999

Neural tube defects along the Texas-Mexico border, 1993-1995.

In response to a 1991 anencephaly cluster in Cameron County, Texas, a surveillance and neural tube defect (NTD) recurrence prevention project for NTDs was implemented in the 14 Texas-Mexico border counties. For 1993-1995, NTD-affected pregnancies were identified at all gestational ages through active surveillance of multiple case-ascertainment sources. There were 87 cases of anencephaly, 96 cases of spina bifida, and 14 cases of encephalocele for respective rates of 6.4, 7.1, and 1.1 per 10,000 live births. Of the 197 NTD case-women, 93% were Hispanic. The overall, Hispanic, and Anglo NTD rates were, respectively, 14.6, 14.9, and 10.6 per 10,000 live births. The NTD rate for El Paso County (9.8 per 10,000), the most northwestern Texas county, was significantly lower (p = 0.001) than the aggregate rate for the rest of the Texas border (17.1 per 10,000). The overall Texas border rate was significantly higher (p < 0.001) than a recently estimated rate of 9.3 for California and minimally higher than a recently adjusted rate of 11.3 for the Metropolitan Atlanta Congenital Defects Program counties (p = 0.052), both of which now reflect all gestational ages. Of the 197 Texas border cases, 85% (168 cases) reached a gestational age of > or =20 weeks. Excluding cases of <20 weeks' gestation in the rate had a more marked effect on reducing the anencephaly rate (4.9 per 10,000) than the spina bifida rate (6.7 per 10,000). A country of birth was known for 153 (83%) of the 184 Hispanic case-women: 63% were born in Mexico; 24%, in Texas; and 11%, elsewhere in the United States. Rates for Mexico-born Hispanic women (15.1 per 10,000) were significantly higher than rates for United States-born Hispanic women (9.5 per 10,000) (p = 0.006).

Adult↗

PubMed2005

Physiological role of collagen XVIII and endostatin.

Collagen XVIII is a component of basement membranes (BMs) with the structural properties of both a collagen and a proteoglycan. Proteolytic cleavage within its C-terminal domain releases a fragment, endostatin, which has been reported to have anti-angiogenesis effects. Molecular studies demonstrated binding of the endostatin domain to heparan sulfate and to BM components like laminin and perlecan, but the functional role of these interactions in vivo remains unknown. Insights into the physiological function of collagen XVIII/endostatin have recently been obtained through the identification of inactivating mutations in the human collagen XVIII/endostatin gene (COL18A1) in patients with Knobloch syndrome, characterized by age-dependent vitreoretinal degeneration and occipital encephalocele. That collagen XVIII/endostatin has an essential role in ocular development and the maintenance of visual function is further demonstrated by the ocular abnormalities seen in mice lacking collagen XVIII/endostatin. Age-dependent loss of vision in these mutant mice is associated with pathological accumulation of deposits under the retinal pigment epithelium, as seen in early stages of age-related macular degeneration in humans. In addition, recent evidence suggests that lack of collagen XVIII/endostatin predisposes to hydrocephalus formation. These recent findings demonstrate an important role for collagen XVIII/endostatin in cell-matrix interactions in certain tissues that may be compensated for in other tissues expressing this collagen.

Aging↗

PubMed1994

The frontal sinus in frontoethmoidal meningoencephaloceles.

We performed a review of all patients with frontoethmoidal meningoencephaloceles (FEME) in whom frontal sinus development would be expected to be complete. Frontal sinus absence is the predominant finding. The potential role of the FEME in producing a structural blockage to normal frontal sinus development is suggested. Surgical correction of the encephalocele should include augmentation of the glabella to compensate for the combined effects of the FEME and the surgical osteotomies in this region.

Adolescent↗

PubMed1997

Early experience with biodegradable fixation for congenital pediatric craniofacial surgery.

We describe early experience using a polymeric bioresorbable bone fixation system in a consecutive series of eight pediatric patients for the correction of craniofacial malformations. Indications for surgical treatment included craniosynostosis (7) and encephalocele (1). All patients underwent bifrontal craniotomies with cranial vault or orbital reconstruction or both. Segments were then stabilized using bioresorbable fixation systems. Patients were evaluated pre- and postoperatively clinically and with radiographs and photographs. Mean follow-up was 4.5 months, with a minimum follow-up of 3 months. In seven of eight patients, there was no incidence of infection, extrusion, exposure, erythema, instability of the advanced segments, relapse, hematoma, seroma formation, or adverse inflammatory reaction. One patient experienced difficulty with respect to system imperfections (i.e., drill holes after tapping were too large for screws). This study demonstrated the efficacy of bioresorbable plates and screws for the growing pediatric craniofacial patient; excellent short-term results were achieved. Prospective studies and longer longitudinal follow-up of larger numbers of patients are desirable to confirm these findings.

Absorbable Implants↗

PubMed2001

Craniofacial surgery in Oman: a preliminary study of 10 cases.

Craniofacial surgery requires a highly specialized surgical team, appropriate precision delicate instruments, dedicated anesthetist, and upgraded intensive care unit facilities. This type of surgery is undertaken in a large number of congenital problems such as encephalocele, craniosynostosis, hypertelorism, tumors of the craniofacial region, and for craniofacial injuries. We present our experience with craniofacial surgery in 10 patients during a 15-month period at Khoula Hospital, Muscat, Sultanate of Oman. These operations were the first of this kind to be done in this part of the world. This article highlights the need for developing craniofacial units in the Gulf region.

Adolescent↗

PubMed2004

Successful use of biosorb osteofixation devices in 165 cranial and maxillofacial cases: a multicenter report.

Bioabsorbable osteofixation devices were developed to avoid problems associated with metals. Bioabsorbable devices are mostly made of the polymers polylactide, polyglycolide, and their copolymers [polyglycolide-co-polylactide and P(L/DL)LA]. Using the technique of self-reinforcement of bioabsorbable materials, it is possible to manufacture osteofixation devices with ultra high strength. Self-reinforced polyglycolide-co-polylactide 80/20 was selected to make devices (Biosorb PDX) for this study because of its favorable degradation characteristics. The aim of this study was to evaluate the efficacy of using self-reinforced polyglycolide-co-polylactide 80/20 (Biosorb) plates and screws in the fixation of osteotomies in craniomaxillofacial surgery. In a prospective study, 165 patients (161 children and 4 adults) were operated on in four European Union centers (Paris, Innsbruck, London, and Oulu) from May 1, 1998 to January 31, 2002. Indications included correction of dyssynostotic deformities (n = 159), reconstruction of bone defects after trauma (n = 2), tumor removal (n= 2), and treatment of encephalocele (n = 2). Plates used were 0.8, 1, or 1.2 mm thick, and screws had an outer (thread) diameter of 1.5 or 2 mm and a length of 4, 6, or 8 mm. Tacks had an outer diameter of 1.5 or 2 mm and a length of 4 or 6 mm. During surgery, the devices were easy to handle and apply and provided stable fixation apart from 2 cases. Postoperative complications occurred in 12 cases (7.3%), comprising infection (n = 6), bone resorption (n = 4), diabetes insipidus (n = 1), delayed skin wound healing/skin slough (n = 2), and liquorrhea (n = 1). Accordingly, self-reinforced polyglycolide-co-polylactide 80/20 (Biosorb) plates and screws can be used safely and with a favorable outcome in corrective cranioplasties, especially in infants and young children.

Absorbable Implants↗

PubMed1995

Scintigraphic cerebral spinal fluid leak study in a child with recurrent meningitis after resection of a frontal meningocele.

An In-111 DTPA cerebrospinal fluid (CSF) leak study was performed on a 3-year-old boy admitted with recurrent meningitis. He was born with a congenital encephalocele that was surgically resected at 7 days-of-age. A residual skull floor defect with a recurrent tumor of the nasal radix was clinically suspected. Computed tomography and MRI scans could not confirm or rule out the presence of a CSF leak. The scintigraphic study clearly demonstrated a leak into the left naris. A large leptomeningeal cyst extending down into the left nares was resected and a defect in the left frontal calvarium, identified as the source of the CSF leak, was repaired at surgery.

Arachnoid Cysts↗

PubMed2000

Preservation of olfaction in anterior skull base surgery.

OBJECTIVES/HYPOTHESIS: In selected unilateral tumors and defects of the anterior skull base, the preservation of contralateral olfaction is achievable through a localized subcranial approach without compromising surgical objectives of resection or repair. STUDY DESIGN: Description of a functional adaptation of anterior skull base surgical techniques through a retrospective patient series. METHODS: Nine patients underwent anterior skull base surgery for unilateral cribriform plate disease including four malignant and two benign tumors, two encephaloceles, and one iatrogenic cribriform injury with cerebrospinal rhinorrhea. All nine patients consented to a localized subcranial approach to the anterior skull base to preserve the contralateral olfactory nerves. In four patients with benign disease a portion of the ipsilateral nerves was additionally conserved. Postoperative olfaction was assessed objectively with a commercially available smell test. Indications, technique, results, and complications are reported and discussed. RESULTS: All patients had eradication of disease with preservation of functional olfaction CONCLUSIONS: Conservation of olfaction is possible in selected cases of anterior skull base surgery when the lesion is unilaterally confined.

Adenocarcinoma↗

PubMed1992

Lesions of the nasal radix in pediatric patients: diagnosis and management.

Lesions involving the nasal radix are not extremely uncommon in the pediatric population. Such lesions may represent inflammatory or infectious processes, neoplasia, traumatic sequelae, or developmental anomalies, but faulty embryogenesis is considered the most common cause. During my surgical experience, I have encountered nasal dermoids, nasal gliomas, and nasal encephaloceles resulting in lesions at the root of the nose. Each of these has unique features that will affect therapy.

Adult↗

PubMed1996

Meckel syndrome and Dandy Walker malformation.

We report on a child with typical features of Meckel syndrome in whom both encephalocele and Dandy Walker malformation (DWM) exist. Previous reports of DWM associated with cystic dysplasia of the kidney are reviewed.

Abnormalities, Multiple↗

PubMed1997

Fronto-facio-nasal dysplasia.

Fronto-facio-nasal dysplasia is a rare cause of facial clefts. The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures resulting in defects of the alae nasi and blepharophimosis, lagophthalmos, and S-shaped palpebral fissures. In addition affected children have ocular malformations such as epibulbar dermoids and colobomata of the iris or optic disk and may have a posterior encephalocele; these features distinguish this condition from fronto-nasal dysplasia and early amnion rupture sequence. We describe a child with unilateral features. Unilateral craniofacial clefts are usually assumed to have a low recurrence risk. However, fronto-facio-nasal dysplasia is an autosomal recessive condition and must be considered in any child with paramedian facial clefts.

Abnormalities, Multiple↗