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Current classifications, indications for surgery, operative options and outcome statistics available to neurosurgeons for the management of congenital encephaloceles, arachnoid cysts and the Dandy-Walker complex are reviewed.
Atretic cephaloceles are thought to be involuted true meningoceles or encephaloceles. They are located at the midline of the parietal or occipital region and usually joined to the subarachnoidal space. We present a 6-month-old girl with atretic cephalocele communicating with the lateral ventricles.
The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).
OBJECTIVE: In 1999, a folic acid campaign for prevention of neural tube defects was started in Nuevo León, México, with the recommendation of taking a 5000 -mcg tablet of folic acid per week. The purpose of this study was to compare the epidemiology of neural tube defects after four years of the campaign. METHODS: Cases of anencephaly, spina bifida, and encephalocele (ICD Q00, Q01, Q05, 10th Ed.) from public and private hospitals were registered by immediate notification, death certificates, and fetal death registries. Comparisons of neural tube defects rates, phenotype distribution of cases, and sex ratios, registered before and after the folic acid campaign, were done using the Student's t Test and Chi square test. RESULTS: There was a 50% reduction in the incidence of anencephaly and spina bifida cases from 93 in 1999 (1.04x1000) to 46 in the year 2003 (0.56x1000) (p<0.001). Spina bifida cases declined up to 70% in 2002 and anencephaly cases up to 50% in 2003. In 1999, overall, the ratio (females: males) was 0.66 with female excess; the sex ratio was similar for anencephaly and spina bifida cases. In the year 2000, female cases showed a significant reduction for both spina bifida and anencephaly (75% and 56% respectively); the sex ratio was 0.57 with a greater male excess for both phenotypes. CONCLUSIONS: Weekly administration of 5000 mcg of folic acid reduces the incidence of neural tube defects 50%, primarily spina bifida, with a higher reduction of female cases.
We report a case of a single umbilical artery with various fetal anomalies, and a comparative study between prenatal ultrasonographic diagnosis and autopsy was done. The prenatal ultrasonographic diagnosis included, atrial septal defect (ASD), ventricular septal defect (VSD), mitral atresia or stenosis and a single great vessel. At autopsy, ASD, VSD, mitral atresia, overriding aorta and pulmonary atresia were evident. In case of other anomalies, the findings in the prenatal diagnosis and at autopsy were encephalocele, adrenal hypoplasia and a single umbilical artery. The ultrasonic detection of these anomalies is discussed and the limitations of this diagnostic method are given attention.
Nasal glial heterotopia (also known as "nasal glioma"), is a rare developmental abnormality seen in a wide age group but typically presenting at birth or in early childhood. Failure to recognize the entity is the principle difficulty in diagnosis. Ten cases of nasal glial heterotopic diagnosed between 1970 and 2000 were identified. Histologic and immunohistochemical features were evaluated and patient follow-up was obtained. The patients included five females and five males with a mean age at presentation of 8.6 years (range, birth to 44 years). Most patients presented clinically with a polypoid mass in the nasal cavity, although two patients had a mass on the nasal bridge. Symptoms were present for an average of 2 to 3 months. A connection to the central nervous system was identified in one case. Masses ranged in size from 1 to 7 cm in greatest dimension (mean, 2.4 cm). Histologically, the masses were composed of astrocytes (including gemistocytic type) and neuroglial fibers intermixed with a fibrovascular connective tissue stroma. Neurons and ependymal cells were noted in two cases. Focal calcifications and inflammatory cells were identified occasionally. Masson trichrome stains the collagen intensely blue, while the neural population stains magenta. Immunohistochemical reactivity with glial fibrillary acidic protein and S-100 protein will help to confirm the histologic diagnosis, while collagen type IV and laminin can highlight the reactive fibrosis. All cases were managed by surgery. All patients were alive without complications at last follow-up (mean, 26.8 years), except for the single fetus included in the study. Nasal glial heterotopia typically involves the nasal cavity and usually presents perinatally, although three patients presented in adulthood. The subtle glial component on routine microscopy can be accentuated with a trichrome stain or by immunoreactivity with glial fibrillary acidic protein and S-100 protein. Imaging studies must be performed before surgery to exclude an encephalocele, which requires different surgery. Complete surgical excision of nasal glial heterotopias is curative.
Considerable variation in the epidemiology of encephalocoeles throughout the world has been described in previous studies. We analysed 46 cases of encephalocoele presenting to Auckland and Starship Children's Hospital over the last 25 years to determine if our experience differed from that seen in a typical Western population, and to determine if there was variation between the different racial groups within New Zealand. The overall incidence of encephalocoeles in the area serviced by the neurosurgical services of Auckland and Starship Children's Hospitals was 1 in 13,418 births. This rate is at the higher end of the incidence spectrum compared with previous series. Overall, New Zealand appears to demonstrate a typical Western distribution of encephalocoele location. In people of Pacific Island descent, both the rate of encephaloceles (1 per 8,873 births) and the percentage of sincipital lesions (44%) differed from the rest of the population. Additionally, a higher than expected proportion of sincipital encephalocoeles was seen in male babies (5:1 male to female ratio). In most other regards our population resembles that of western cohorts published in the literature.
OBJECTIVE: Our aim was to develop and evaluate a transabdominal endoscopic technique to visualize the embryo or fetus with thin-gauge needles and submillimetric fiberoptic endoscopes. METHODS: Under ultrasonographic guidance, an 18- or 19-gauge thin-wall needle was introduced into the uterus of 28 patients undergoing first-trimester or early second-trimester termination of pregnancy. A 0.7 mm endoscope was threaded through the lumen of the needle after removal of the stylet. Visualization of the embryo-fetus was attempted before 14 weeks' gestation (n = 20). From 16 to 20 weeks (n = 8), the needle and endoscope were directed to the placental insertion of the umbilical cord, and a cordocentesis was performed. RESULTS: Excellent visualization of the surface anatomy of fetuses from 7 to 13 weeks was obtained in 85% of cases (17/20). A diagnosis of Meckel-Gruber syndrome was made at 11 weeks' menstrual age by visualizing postaxial polydactyly and an occipital encephalocele. Endoscopically assisted cordocentesis allowed visualization of the lumen of the umbilical vein and of the blood flow within it. CONCLUSION: Endoscopic visualization of the embryo or fetus can be performed transabdominally in the first trimester with small-delivered endoscopes. This represents a clear advantage over previous endoscopic approaches to the human pregnancy. Potential applications of this technique include a precise description of fetal anatomy and physiologic features, diagnosis of anomalies, and therapeutic fetal interventions.
OBJECTIVE: Our purpose was to examine the feasibility of diagnosing the Meckel-Gruber syndrome at 11 to 14 weeks' gestation, both in high-risk pregnancies and during routine ultrasonographic screening for fetal chromosomal abnormalities. STUDY DESIGN: The high-risk population consisted of 9 pregnancies in 7 women with previous pregnancies affected by the Meckel-Gruber syndrome. At 11 to 14 weeks' gestation, systematic ultrasonographic examinations of the fetal skull, brain, kidneys, bladder, hands, and feet were undertaken in each case. The low-risk population consisted of 21,477 self-referred pregnancies undergoing first-trimester ultrasonographic screening for chromosomal defects at 11 to 14 weeks' gestation. RESULTS: The triad of fetal occipital encephalocele, bilateral polycystic kidneys, and postaxial polydactyly was detected by transabdominal ultrasonography and confirmed by transvaginal scanning in 4 of the 9 pregnancies in the high-risk group. The parents were counseled of the likely recurrence of the Meckel-Gruber syndrome, and all elected to terminate the pregnancy by transcervical evacuation at 12 to 13 weeks. In the low-risk population the only case of Meckel-Gruber syndrome was identified at 13 weeks; in the remaining screened pregnancies there were no other cases of termination of pregnancy or neonatal death with the diagnosis of Meckel-Gruber syndrome. CONCLUSION: This report demonstrates that the Meckel-Gruber syndrome can be confidently detected at the 11- to 14-week scan in both high- and low-risk populations.
Seven infants have been studied who have a similar pattern of severe craniofacial and limb anomalies associated with aberrant tissue bands. The craniofacial anomalies consist of unusual encephaloceles, facial clefts, and cranial plus midfacial distortion; the limb anomalies consist of constrictions, amputations, and pseudosyndactyly. These defects are interpreted as being secondary to the early distorting and disruptive effects of aberrant tissue bands, the etiology for which is undetermined. Survival beyond the neonatal period has occurred in four of the five liveborn patients, indicating that early death should not necessarily be anticipated. Recurrence risk is apparently negligible.
OBJECTIVE: To determine the utility of performing three-dimensional (3D) computed tomography (CT) of congenital naso-frontal anomalies for preoperative planning and counseling and compare it with standard two-dimensional (2D) imaging and intraoperative findings. STUDY DESIGN: Prospective case evaluation of imaging studies and medical records in cohort of patients with congenital nasal anomalies. METHODS: We performed 3D CT imaging of three different types of congenital nasal lesions. Additional preoperative imaging consisted of standard 2D CT scans and/or magnetic resonance imaging (MRI). Information obtained from the 3D CTs was compared with other standard imaging and intraoperative findings. RESULTS: 3D CT was most useful in the case of a large encephalocele with a significant bony defect of the anterior cranial fossa. It provided moderate utility when used to evaluate a nasal dermoid with nasal bone and septal abnormalities and was of limited benefit in the case of a bifid nose with significant external soft tissue deformity and relatively normal bony anatomy. CONCLUSION: Congenital midline nasal anomalies are rare lesions with the potential for intracranial extension and anterior skull base abnormalities. The safe surgical treatment of these lesions depends upon accurate preoperative imaging to assist in establishing the diagnosis, to help guide surgical planning, and to assist in communicating the diagnosis and surgical approach for optimal counseling of families. 3D CT was instrumental in providing additional useful information in cases with significant bony abnormalities at little additional cost or time. It is also beneficial for preoperative counseling of patients and families with limited medical knowledge.
Intradiploic meningoencephalocele is rarely found in adulthood. It is thought to be postraumatic and must be differenciated from congenital encephalocele. Imaging findings, particularly with Magnetic Resonance Imaging, are useful in determining the various linings and contents of this intradiploic defect.
We report of a case of Meckel Gruber Syndrome (MGS) in a woman, who suffered previously from a pregnancy with the same disorder. MGS, consisting of an occipital encephalocele, bilateral cystic kidneys and postaxial polydactyly, is a rare autosomal recessive disorder, with a recurrence risk of 25%. With the present technology, a targeted ultrasound in the late embryonic or early fetal stages of pregnancy has the potential to diagnose this syndrome. Clinical screening in further pregnancies is of utmost importance and the management of such cases is presented.
Three patients with an oblique facial cleft are described. One patient displayed ring constriction, lymphoedema, distal pseudosyndactyly and an occipital encephalocele to which an amniotic band was attached at birth. Therefore, it was obvious that the oblique facial cleft was accompanied by an amnion rupture sequence. These signs were not apparent in the other patients. However, one of the patients demonstrated various anomalies, amongst which syndactyly on the right foot, scoliosis, microcephaly, microphthalmia and corneal opacity suggested that the patient may have been affected by the amnion rupture sequence, except for polydactyly on the left foot, cleft hand and vertebra plana.
Accurate, unbiased malformation rates in twins must be obtained unselectively from population-based studies that include livebirths and stillbirths after a thorough ascertainment of cases. This type of study was conducted in Los Angeles County, California, where 28 twins with a neural tube defect (NTD) were identified. The prevalence in twins (1.6/1,000) was significantly higher than in singletons (1.1/1,000). The study then was expanded to include population-based data from the Medical Birth Registry of Norway which has a comparable overall NTD prevalence (1.0/1,000) and twinning rate (2%). The combined material shows a higher prevalence of anencephaly and encephalocele but not of spina bifida in twins compared to singletons. The male/female ratios in total twin and singleton cases were comparable (0.8), but varied by specific defect. Like-sex twin females appeared at highest risk for NTD as well as for fetal death. This study supports theories which associate NTDs with monozygotic twins, either through developmental disruptions that cause susceptibility to environmental agents or through a common etiology. Furthermore, it suggests that twins and singletons differ in their response to etiologic factors for the development of NTDs and that the development of each type of NTD may be related to different factors.
Access to the intrathecal space may be required for sampling of cerebrospinal fluid for diagnostic purposes, for the administration of pharmacological agents, or for cerebrospinal fluid (CSF) drainage to lower intracranial pressure. The current report details five children in whom a percutaneously placed lumbar intrathecal catheter was used: (i) to provide intraoperative surgical anaesthesia instead of general anaesthesia (ii); to deliver intrathecal fentanyl to provide postoperative analgesia (iii); to provide chronic pain control during the terminal stages of metastatic malignancy; (iv) to allow repeated doses of intrathecal chemotherapy; and (v) to allow CSF drainage and prevent CSF leakage following frontal encephalocele repair. The indications and applications of intrathecal catheters in the paediatric aged patient are reviewed.
The presence of a skull base defect can lead to major complications such as cerebrospinal fluid leak, meningocele, encephalocele and meningitis. It is exceptional to find the existence of two concomitant defects in the skull base. We present the case of a patient with concomitant spontaneous defects of the anterior and middle skull base that were surgically repaired. After 18 years of right rhinorrhea the patient was referred after being diagnosed with a large right nasal fossa meningoencephalocele, which was surgically removed by functional endoscopic sinus surgery. Following the surgery the patient complained about unilateral ear fullness. A paracentesis revealed a highly suspicious cerebrospinal fluid collection. High resolution scans revealed a defect in the mastoid tegmen; subsequently a transmastoid approach was carried out. Greater defects or those lying around the internal auditory canal, are best treated via the middle fossa approach. In the anterior cranial fossa the treatment of choice is provided by endoscopic procedures, but frontal bone craniotomy should be considered if the defect is in the frontal sinus or greater than 5 cm in size.
Meckel's syndrome, with the major characteristic features of encephalocele, polydactylia and cystic kidneys, can be diagnosed via sonography. Both serum and amniotic fluid show increased alpha-foetoprotein levels. Acetylcholine esterase electrophoresis shows a pathological band on examination of the amniotic fluid. Heredity is autosomal recessive. The children are not viable. Genetic consultation of the parents is recommended.