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Endoscopic repair of frontal sinus cerebrospinal fluid leaks.

OBJECTIVE: To describe endoscopic management of frontal sinus cerebrospinal fluid (CSF) leaks. STUDY DESIGN: Retrospective. METHODS: We reviewed all frontal sinus CSF leaks treated using an endoscopic approach at our institutions from 1998 to 2003. CSF leaks originated immediately adjacent to or within the frontal recess or frontal sinus proper for inclusion in the study. Data collected included demographics, presenting signs and symptoms, site and size of skull-base defect, surgical approach, repair technique, and clinical follow up. RESULTS: Seven frontal sinus CSF leaks in six patients were repaired endoscopically. Average age of presentation was 45 years (range 25-65 years). Aetiology was idiopathic (three), congenital (one), accidental trauma (one), and surgical trauma (two). All patients presented with CSF rhinorrhea; two patients presented with meningitis. Four defects originated in the frontal recess, while two others involved the posterior table and frontal sinus outflow tract. Four patients had associated encephaloceles. We performed endoscopic repair in all six patients with one patient requiring an adjuvant osteoplastic flap without obliteration. All repairs were successful at the first attempt with a mean follow up of 13 months. All frontal sinuses remained patent on both post-operative endoscopic and radiographic exam. CONCLUSIONS: Endoscopic repair of frontal sinus CSF leaks and encephaloceles can be an effective method if meticulous attention is directed toward preservation of the frontal sinus outflow tract, thus avoiding an osteoplastic flap and obliteration. The major limiting factor for an endoscopic approach is extreme extension superiorly or laterally within the posterior table beyond the reach of current instrumentation.

Adult↗

Decline in prevalence of neural tube defects in a high-risk region of the United States.

OBJECTIVES: To conduct surveillance for neural tube defects (NTDs) in a high-risk region of the United States and to prevent occurrence and recurrence of NTDs through the periconceptional use of folic acid supplements. DESIGN: Active and passive methods were used for surveillance of NTD-affected pregnancies and births during a 6-year period (October 1992-September 1998). Individual genetic counseling was used to prevent NTD recurrences and a public awareness campaign was used to reduce NTD occurrences. SETTING: State of South Carolina. PATIENTS: All cases of spina bifida, anencephaly, and encephalocele identified among 278 122 live births and fetal deaths to South Carolina residents during 1992-1998 were included. MAIN OUTCOME MEASURE: Changes in occurrence and recurrence rates during a 6-year period. RESULTS: Over the 6 years of surveillance, the prevalence rates for NTDs decreased from 1.89 to.95 cases per 1000 live births and fetal deaths. The prevalence decrease is explained primarily by a decrease in cases of spina bifida. Isolated NTDs accounted for 297/360 (82%) NTDs and 63/360 (18%) had at least 1 other structural anomaly. Females predominated among isolated NTDs but the sex distribution was equal among NTD cases with other anomalies. Prevalence rates for whites (1.48 cases per 1000 live births and fetal deaths) were higher than rates for blacks (.87 cases per 1000 live births and fetal deaths). There were no NTD recurrences in 113 subsequent pregnancies to mothers of infants with isolated NTDs who took periconceptional folic acid. The rate of periconceptional folic acid use among women of childbearing years increased from 8% to 35% during the 6-year project period. CONCLUSION: The prevalence of NTDs in a high-risk region has declined coincident with the increased periconceptional use of folic acid supplements among women of childbearing age.neural tube defects, high-risk region, birth defects, folic acid, spina bifida, anencephaly, encephalocele.

Adolescent↗

Bilateral vocal cord paralysis in newborns with neuraxial malformations--two case reports--.

Two neonates presented with inspiratory stridor due to bilateral vocal cord paralysis associated with occipital encephalocele, Chiari malformation, and hydrocephalus in one patient, and cervical meningomyelocele and Chiari malformation in the other patient. The clinical symptoms dramatically regressed after repair of the encephalocele or meningomyelocele with no requirement for craniovertebral decompressive procedures or shunts in the acute phase. Careful evaluation of neonatal stridor and recognition of vocal cord paralysis are important, as treatment of associated congenital central nervous system anomalies is likely to achieve satisfactory surgical results.

Arnold-Chiari Malformation↗

Maternal-serum-alphafetoprotein screening for fetal malformations in 28 062 pregnancies. A four-year experience from a low-risk area.

From 1st March, 1980 and up to 29th February 1984 a multicenter serum alpha-fetoprotein (S-AFP) screening project was carried out for the detection of severe fetal malformations. S-AFP was determined by a radio-immunoassay in 28 062 pregnant women between the 16th and 20th week of gestation. Patients with elevated S-AFP values, e.g. above 95 percentile, were examined further with a second S-AFP and by ultrasound scan. 244 amniocenteses (0.9%) were carried out to detect 62 malformations (21 anencephalies, 14 spina bifidas, 2 encephaloceles, 7 omphaloceles, 5 gastroschises, 4 chromosome abnormalities and 9 other malformations). Fifteen of the 16 cases of spina bifida could not be verified by ultrasound scan, whereas all other malformations except chromosome abnormalities were confirmed by ultrasonography. Two cases of spina bifida and one case of skin-covered encephalocele had normal S-AFP concentrations and were therefore not detected. There were no definitive false-positives, e.g. therapeutic abortion of a normal fetus. Our conclusion is that a nationwide S-AFP screening should be recommended.

Abdominal Muscles↗

Ocular findings in conjoined (Siamese) twins.

Conjoined twinning is a rare form of congenital anomaly. The ocular findings in six sets of conjoined twins as well as those reported elsewhere include abnormal optic nerve decussation, pseudosynophthalmos, microphthalmia, abnormal eyelids, orbital encephalocele, occipital encephalocele, and eyelid coloboma. These findings are interpreted as due to deformations from appositional fusion-related factors or malformations from developmental factors.

Diseases in Twins↗

A reappraisal of amniotic fluid alpha-fetoprotein measurement at the time of genetic amniocentesis and midtrimester ultrasonography.

OBJECTIVE: To evaluate the contemporary utility of amniotic fluid alpha-fetoprotein measurement as a complementary test for fetal abnormalities at the time of invasive genetic testing. METHODS: A review of amniotic fluid alpha-fetoprotein test results was conducted to determine the frequency with which elevated alpha-fetoprotein values added independent diagnostic information and altered clinical management. Amniotic fluid specimens processed for alpha-fetoprotein between 1995 and 1998 were included. Elevated alpha-fetoprotein cases were classified as either incidental to the fetal abnormality diagnosed or central to the identification of a fetal anomaly on the basis of whether an ultrasonographic examination had already identified the anomaly before amniocentesis. The costs associated with alpha-fetoprotein testing were used to estimate the expenditure per pregnancy in which elevated alpha-fetoprotein values would add discriminatory diagnostic value. A hypothetical national cost model was constructed to explore the utility of selective rather than routine amniotic fluid alpha-fetoprotein measurement. RESULTS: Eighty-two (3%) of 2769 amniotic fluid alpha-fetoprotein values were elevated. In only 1 instance was the elevated result found to be partially discriminatory (e.g., an established diagnosis of microcephaly with an associated small encephalocele identified after the elevated amniotic fluid alpha-fetoprotein value prompted repeated ultrasonographic assessment). Sixty-one other neural tube defects were detected by ultrasonography alone (myelomeningocele, n = 28; anencephaly, n = 24; and encephalocele, n = 9). Thus, an elevated alpha-fetoprotein result added diagnostic precision in only 1 (0.036%) of 2769 cases. Cost estimates suggested that routine amniotic fluid alpha-fetoprotein assessment resulted in a $219,000 expenditure per informative case. CONCLUSIONS: Routine measurement of amniotic fluid alpha-fetoprotein during amniocentesis may not be warranted in centers with expertise in targeted ultrasonographic imaging.

Adolescent↗

Prenatal diagnosis of dyssegmental dysplasia. A case report.

BACKGROUND: Since the first use of sonography, most fetal dwarfism has been detectable prenatally. The correct differentiation of the subtype of dwarfism is difficult at times. Dyssegmental dysplasia is probably an exception to these subtypes because the vertebral disorganization and occipital encephalocele at times permits prenatal diagnosis. CASE: A 34-year-old woman, gravida 3, para 1, elective abortion 1 for dwarfism, was referred at 27 weeks' gestation for cystic hygroma. Further sonographic findings included: cystic hygroma with massive ascites, micromelia, occipital encephalocele, spinal disorganization and hydramnios. The fetus and both parents appeared to have a normal karyotype. Later the pregnancy was terminated with vaginal delivery. The fetus had micromelia, camptomelia, cystic hygroma, a flat face, short neck, short trunk, narrow thorax with protuberant abdomen, scoliosis and clubfeet. CONCLUSION: Sonography is effective in prenatal diagnosis of dyssegmental dysplasia. With sonography, diagnosis of dyssegmental dysplasia becomes possible as early as the first trimester.

Abnormalities, Multiple↗

[Dynamic monitoring of neural tube defects in China during 1996 to 2000].

OBJECTIVE: The database from Chinese Birth Defects Monitoring Network was used to describe the epidemiological features and secular trends of neural tube defects (NTDs) prevalence during Jan. 1996 to Dec. 2000, including anencephaly, spina bifida and encephalocele. METHODS: Data were collected with hospital-based cluster sampling method. During the period, all live or still births with 28 weeks or more of gestation were assessed within seven days after delivery. RESULTS: There were 2 873 case with NTDs identified from 2 281 616 births, with an overall prevalence rate of 12.95 per 10,000 births. And, the prevalence rates of anencephaly, spina bifida and encephalocele were 5.02 per 10,000, 6.30 per 10,000 and 1.64 per 10,000, respectively. Significant falls in overall prevalence rates of NTDs and of anencephaly were observed. The prevalence rates of NTDs were 9.75 per 10,000 and 15.96 per 10,000 in male and female births, respectively, 7.76 per 10,000 and 25.20 per 10,000 in the urban and rural areas, respectively, and 19.90 per 10,000 and 5.81 per 10,000 in north and south China, respectively. The prevalence was higher in the groups with maternal age of less than 20 years and more than 30 years than in those other maternal ages. Preterm babies and babies with low birth weight accounted for 50.9% and 50.6% of perinatal babies with NTDs, respectively, with a perinatal mortality of 77.8%. CONCLUSIONS: In China, the occurrence of NTDs was higher in female births than in male births, higher in the rural than in the urban, and higher in the north than in the south. Annual prevalence rate of NTDs in China presented a declining trend, but still higher than that in the other countries at the same time period. Babies with NTDs were in poor birth quality, higher perinatal mortality and poor prognosis. Effective preventive measures and prenatal diagnosis should be strengthened to reduce the occurrences of neural tube defects.

Adult↗

[The epidemiology of neural tube defects in high-prevalence and low-prevalence areas of China].

OBJECTIVE: To describe the epidemiology of neural tube defects (NTDs) in high- and low-prevalence areas of China. METHODS: Birth defects surveillance data, collected from 1992 through 1994 was analyzed. These data were collected as part of the Sino-American cooperative project on NTDs prevention. We classified NTDs as anencephaly, encephalocele, high-level and low-level spina bifida (SB) according to location of the lesion (high vs low) and whether the defect was isolated or occurred in association with other birth defects. Rates were compared in the high-prevalence (North) region and the low-prevalence (South) region, after adjusted for classification, urban and rural, season and sex, and calculated the adjusted rate of NTDs. RESULTS: Among seven hundred and eighty-four NTDs cases in 326 874 recorded births (include in livebirth, stillbirth and fetal death with a gestational age of at least 20 weeks), the overall NTDs prevalence in the North was 5.57/1,000 births, and in the South was 0.88/1 000. There were also significant differences in the prevalence of anencephaly, encephalocele, high-level and low-level SB between North (0.97, 0.49, 2.75 and 1.11/1,000 birth) and South (0.36, 0.15, 0.21 and 0.14/1,000 birth) (P < 0.01), with adjusted prevalences in the North 3 - 7 times higher than those in the South. There were significant difference between urban (2.04) and rural areas (6.57/1,000 birth) in the North (P < 0.01), urban (0.52) and rural areas (0.95/1,000 birth) in the South (P < 0.05). Adjusted prevalence rates in the rural were 3 - 4 times higher than those of urban in the North and 1.6 - 1.9 times higher than in the South; The seasonal rate of high-level SB increased between September and November in the North (3.44/1,000 birth), while the seasonal rate of anencephaly decreased between September and November (0.18/1,000 birth) in the South. However there were no seasonal changes in other classified NTDs both in the South and North. CONCLUSIONS: The birth prevalence of NTDs in the North of China was the highest in the world. There were significant differences between the North and the South, urban and rural. There was seasonal change in high-level SB in the North, which was in accordance to the phenotype of NTDs. It was suggested that there might exist etiological heterogeneity among anecephalus, low- and high-level SB.

China↗

[Sex distribution of neural tube defects and their birth outcome in high- and low-prevalence areas of China].

OBJECTIVE: To describe and analyze epidemiological characteristics of babies with neural tube defects (NTD) by sex and birth outcome in a high-prevalence and a low-prevalence areas of China. METHODS: Birth defects surveillance data collected from 1992 through 1994, as a part of the Sino-American cooperative project on NTD prevention, were used to classify NTD as four categories, i.e., anencephaly, encephalocele, high-level and low-level spina bifida according to the sites of lesion (high vs. low level lesion were cervicothoracic and lumbosacral, respectively). Each category was sub-classified, according to single or compound defect, as isolated external defects (including those with NTD only) or multiple external defects (including those with NTD and another major external birth defects that is not the sequence of a defect such as cleft lip with or without cleft palate). The rates of anencephalus, encephalocele, high- and low-level spina bifida (SB) in males and females and their sex ratios were calculated, adjusted for urban and rural areas, season, category and birth outcome by sex and sites of lesions (high vs. low). RESULTS: Totally, 784 NTD cases were identified from 326 874 recorded births (including live births, stillbirths and fetal deaths with a gestation age of at least 20 weeks). The prevalence rates of anencephalus (1.30 per 1 000 female births) and high-level SB (3.99) in females were higher than those (0.66 and 1.66 per 1 000 male births) in males in the high-prevalence northern regions; with adjusted prevalence rates of females 1.8 - 2.1 times greater than those of males. In the low-prevalence southern regions, the prevalence of high- (0.32 per 1 000 female births) and low-level SB (0.21) in female were higher than those in males, with high- and low-level SB rate of 0.10 and 0.09 per 1 000 male births), with adjusted rates for females of 1.3 - 1.6 times higher than in males. Isolated NTD accounted for more than 80% of all NTD cases, and the prevalence of isolated NTD in females (2.57) was higher than that in males (1.40). CONCLUSIONS: The sex differences in NTD existed between north and south, in accordance with the phenotype of NTD. It suggested that proportion of high level SB and anencephalus in females could increase as the prevalence of NTD going up, anencephaly, high- and low-level SB had the different genetic and environmental background.

China↗

Meckel-gruber syndrome associated with gastrointestinal tractus anomaly.

Meckel-Gruber syndrome (MGS) is rare autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and polycystic kidneys. A one-day-old girl was admitted to our clinic with occipital encephalocele, polydactyly, ulnar deviation of left hand and failure to thrive. Patient's parents were first-degree relatives. It was learned that the patient's two sisters had died from similar anomalies. In our case, prenatal sonographic examination revealed oligohydramnios and hydrocephaly in the 33rd week of gestation. At birth her weight was 2200 g. Both physical and radiological examinations diagnosed MGS. Cranial computed tomography (CT) showed agenesis of cerebellar vermis and corpus callosum, and cystic dilatation of the 4th ventricle and lateral ventricles. The case died due to severe respiratory distress in the Intensive Care Unit on day 38. In the postmortem examination, longitudinally located intestine-like stomach was determined without a fundus. In conclusion, intestinal malrotation and hepatic portal fibrosis have been reported in MGS in the literature. In this case, a longitudinally located intestine-like stomach in MGS is reported for the first time. No such association to our knowledge has been previously reported.

Abnormalities, Multiple↗

Endoscopic paranasal sinus surgery: radiographic evaluation of severe complications.

PURPOSE: To report our experience with the radiographic evaluation of severe complications resulting from the functional endoscopic sinus surgery (FESS) procedure. PATIENTS: Ten major complications were reviewed retrospectively. FINDINGS: Ten major complications occurred. Eight of 10 had injury to the floor of the anterior cranial fossa, fovea ethmoidalis (roof of the ethmoid sinus), or roof of the sphenoid sinus. Six patients presented with meningitis or rhinorrhea, two presented with headache and massive pneumocephalus; one patient who presented with meningitis had a large nasal frontal encephalocele. Noncontrast brain CT that included the paranasal sinuses adequately evaluated the source of pneumocephalus. Thin-section coronal CT accurately predicted the site of leak in five patients. Both coronal sinus CT and MR imaging were useful to confirm the nasal encephalocele. Two of 10 had vascular injury secondary to FESS. One patient presented with subarachnoid hemorrhage seen on noncontrast CT and cerebral angiography demonstrated an aneurysm of the anterior cerebral artery. The second patient suffered severe intraoperative hemorrhage. Emergency angiography revealed a pseudoaneurysm of the cavernous carotid artery, and balloon occlusion of the artery was performed. No deaths occurred in this series. CONCLUSION: Radiologists should be familiar with the rare, but potential complications of this commonly performed procedure in order to help direct the work-up in an efficacious manner.

Adult↗

[Congenital lesions of the external nose].

Congenital lesions of the external nose appear during embryologic development. Their usual location is midline nasal area. The most common are dermoid cyst, glioma, encephalocele and meningocele. The histopatology confirms dermoid cyst in 60%. Diagnosis is based mainly on clinical examination of the patient. Computer tomography and magnetic resonance are useful to reveal the pathway of intracranial herniation or presence of associated anomalies of the cranial bones. A complete surgical removal of the lesion is the only effective treatment. In Plastic Surgery Clinic in Lodz, 20 patients 2-20 years old were operated between the years 1973-2004. Treatment consisted of simple surgical excision of the nasal lesion. The dermoid cyst was diagnosed in 55%. In 3 cases, where herniations were observed, a preparation and simple ligature was performed. The results of all operations were satisfactory. Congenital lesion of the external nose should be considered as dermoid cyst, glioma, encephalocele or meningocele. Complete excision is very important. Deformations of the nose after surgery are to be corrected after the facial skull growth process ends.

Adolescent↗

Neural tube defects at Siriraj Hospital, Bangkok, Thailand--10 years review (1990-1999).

OBJECTIVES: Neural tube defects (NTDs), (including anencephaly, meningomyelocele and encephalocele), are among the most common birth defects, with high associated mortality and morbidity. NTDs occur in 1-5 per 1,000 births, with marked geographic and ethnic variations. However, there are few data concerning the incidence, associated anomalies, treatment and outcome of NTDs in Thailand. The objective of this study is to analyze data on NTD cases from 1990-1999 at Siriraj Hospital, a hospital with 18,000-20,000 deliveries annually. MATERIAL AND METHOD: A retrospective chart review of patients with NTDs who were born at or referred to Siriraj Hospital 1990-1999 was performed. RESULTS: During the 10 year period we examined, there were 115 patients with NTDs treated in the Department of Pediatrics as well as in other Departments at Siriraj Hospital. The incidence of NTD is 0.67 per 1,000 births. The sex distribution was equal among NTD cases, 55 (48%) females, 59 (51%) males and one (1%) unidentified sex. Isolated NTDs accounted for 105 (91%) cases, and 10 (8.7%) had at least 1 other structural anomaly such as cleft lip/palate, imperforate anus, amniotic band sequence, or ambiguous genitalia. Among all NTD cases, there were 55 (48%) with myelomeningocele, 45 (39%) with anencephaly, and 14 (12%) with encephalocele. Seventeen (15%) cases died; among these, 7 (41% of deaths) died in utero, 8 (47% of deaths) died in the early neonatal period, and 2 (12%) died after 1 year of age. Regarding treatment, 95 surgical corrections, 47 excisions and repairs, 45 excisions and VP shunts, 1 laminectomy and 2 club feet corrections were performed. CONCLUSIONS: In this hospital-based study of 115 patients with NTD, we found an incidence of 0.67/1000 births; however, as this was a hospital-based study, the community incidence is likely higher. Most cases were isolated NTDs, and almost half of NTDs were meningomyelocele. There was a high rate of mortality. Further studies are warranted to better elucidate the health burden from NTDs in Thailand. Public health interventions aimed at increasing the periconceptional consumption of folic acid should be implemented or enhanced to reduce the incidence of NTDs in Thailand.

Abnormalities, Multiple↗

Genetic heterogeneity in neural tube defects.

In 1985-1987, the authors attempted to ascertain all cases of confirmed neural tube defects (NTD) in California and Illinois, not only among live-born infants (postnatal) but also cases ascertained during pregnancy (prenatal). Mothers of both prenatal and postnatal NTD cases were interviewed within 5 months. Among postnatal NTD cases, 14.9% (45/303) had anomalies not ordinarily associated with NTD. The frequency of non-NTD related anomalies was 9.4% (5/53) in anencephaly, 0/3 in craniorachischisis, 22.9% (8/35) in encephalocele, 14.5% (27/186) in spina bifida, 20% (1/5) in multiple NTD cases and 19% (4/21) in other NTDs. However, relatively few postnatal NTD cases had known multiple malformation patterns; Meckel-Gruber syndrome was the most common, with 2 postnatal cases, and 3 additional prenatal cases. Maternal age, paternal age and birth order in postnatal cases were 26.7 +/- 5.4 SD, 28.9 +/- 5.8 and 2.8 +/- 1.8, respectively. These characteristics were similar in prenatal NTD cases (27.9 +/- 6.0, 30.1 +/- 6.3, 2.5 +/- 1.5, respectively). We also found no differences in parental ages among different types of NTD. Frequency of prior spontaneous abortion differed neither between postnatal NTD (9.3%) and postnatal controls (8.1%), nor between prenatal NTD (10.7%) and prenatal control (8.7%). Loss rates in the pregnancy immediately prior to the index NTD cases were not significantly higher than in control subjects. The high frequency of non-NTD associated malformations (14.9%) indicates the caution must be exercised before assuming that a given NTD case is polygenic-multifactorial in etiology, especially cases of encephalocele.

Abnormalities, Multiple↗

[Cervico-facial heterotopic brain tissue with a mandibular deformity].

Case report of a premature baby girl who presented with a right cervico-facial mass which caused severe respiratory difficulty. The patient underwent subtotal resection of the mass whose pathologic specimen report revealed heterotopic cerebral tissue compatible with encephalocele. A head and neck CT Scan performed could not evidence a connection between the mass and the cranial cavity, reason for which the possibility of encephalocele was disregarded. After subtotal resection of the mass, the tumor began to grow from soft palate and the patient died from respiratory complications at four months of age. Autopsy reported heterotopic cerebral tissue from neck and soft palate; right lung pneumonia and infection by CMV. Although the heterotopic cerebral tissue was reported as benign, the clinical characterization of this mass is compatible with a malignant behavior due to the aggressiveness of its growth.

Brain↗

Aqueductal atresia as a feature of arhinencephalic syndromes.

Two cases are presented of aqueductal atresia associated with arhinencephalic syndromes. The first case was one of semilobar holoprosencephaly with occipital encephalocele, the second one of lobar holoprosencephaly (callosal agenesis with interhemispheric cyst). Only the second case was associated with obstructive hydrocephalus. The absence of hydrocephalus in the first case may be ascribed either to the greater distensibility of the encephalocele, or to the displacement of the choroid plexuses from the intracranial portion of the common ventricle into the hernial sac.

Abnormalities, Multiple↗

Orbital roof fractures in the pediatric population.

Twenty-three patients aged 3.3 +/- 1.6 years (mean +/- SD) presented between January of 1984 and September of 1987 with fronto-orbital trauma resulting in fractures of one (N = 20) or both (N = 3) orbital roofs. All patients had computed tomography (CT) with axial and coronal sections that revealed three fracture patterns of the orbital roof (nondisplaced, superiorly displaced, and inferiorly displaced fractures). Orbital dystopia was exhibited in 35 percent (N = 8) of the patients. Exophthalmos was noted in 61 percent (N = 14) of the patients. Only 30 percent of the patients (N = 7) sustained associated maxillofacial fractures. Eight percent of fractures exhibited orbital encephaloceles. All patients lacked frontal sinus pneumatization. The majority of children with orbital roof fractures do not exhibit concomitant facial fractures. CT utilizing both axial and coronal sections is valuable in defining the extent and pattern of the fracture as well as in identifying associated neurologic injuries. Large, displaced orbital roof fractures, which occurred in 3 of 13 patients with displaced fractures in our series, should undergo early reduction to avoid late development of encephalocele.

Child, Preschool↗