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PubMed1986

Neural tube defects: issues in prenatal diagnosis and counselling.

Neural tube defects are a heterogeneous group of malformations resulting from failure of neural tube closure during early embryogenesis. They range widely in severity from the lethal condition of anencephaly, to severely disabling meningomyeloceles, to completely surgically correctable meningoceles. Occurring in 1.4 to 1.6 per 1000 live births, neural tube defects rank second only to cardiac abnormalities as a cause of major congenital malformations in the United States. Technical developments over the past decade have enabled better detection of these conditions prenatally. Understanding of the etiology, neonatal treatment, and potential prevention of neural tube defects is increasing. Further, the ethical issues of treatment and screening are being widely discussed in both news magazines and the Congressional Record. Thus, it is timely to review this important area of prenatal counselling, diagnosis, and management.

Acetylcholinesterase↗
PubMed1989

[Giant sacrococcygeal teratoma in adults].

Sacro-coccygeal teratomas (SCT) are rare congenital tumors (1/40,000 births) but the commonest neoplasms in the newborn, generally discovered at birth; they are well known by pediatric surgeons who operate on them during the first days of life because of the high risk of malignant transformation when the diagnosis is delayed after several months of life. Exceptionally these tumors are observed in the adult without being diagnosed during infancy. The case of a 67 year old man is reported; the tumor presented as a solid mass complicated by necrosis and ulceration. The operation involved en bloc resection of the tumor and its sacro-coccygeal bony attaches. The tumor was found to be benign on histological examination. The main problems concerning diagnosis are discussed: possible association with meningocele and intra-pelvic extensions; these two factors must be defined preoperatively as they may change the approach to treatment. TSC can only be treated surgically, and the classical inverted V incision performed with the patient in the prone position is discussed versus other procedures designed a midline sacral scar, including Z plasty. Radical resection of the tumor with its pedunculated last two sacral and coccygeal vertebrae must be performed to avoid recurrence that may be malignant even if the primary lesion was benign.

Aged↗
PubMed1989

Repair of spinal dural defects with vicryl (polyglactin 910) mesh.

This study examined and compared the effectiveness of woven vicryl (polyglactin 910) mesh and lyophilized cadaver dura (Lyodura) for the repair of spinal dural defects. A woven vicryl mesh was used to repair spinal dural defects in 16 mongrel dogs. As an internal control, all animals had a separate dural incision that was closed with 9-0 vicryl suture. Animals were killed, and results were evaluated at 4, 8, 12, and 24 weeks. The repair of dural defects was achieved in all animals, and there were no cases of pseudo-meningocele formation, cerebrospinal fluid leakage, or postoperative infection. The vicryl mesh served as a latticework for formation of a neodural membrane. Inflammatory or reactive response to vicryl mesh was minimal, and no adhesion to underlying neural structures was noted. The neodural membrane formed in the animals in which lyophilized dura was employed was usually thicker than those in which vicryl mesh was used and was associated with thick arachnoid-neural adhesions in two of eight animals. We believe vicryl mesh is a suitable dural substitute and offers promise for use in clinical situations.

Animals↗
PubMedDate not supplied

[Diverticulum of the lacrimal sac].

Diverticulum of the lacrimal sac is a rare affection. The differential diagnosis must be established with angioma, dermoid cyst, exceptionally with a meningocele, all manifested clinical as a tumefaction of the internal palpebral angle. An individualized therapeutical approach is recommended.

Adult↗
PubMed1989

[Antenatal detection of developing nervous system abnormalities and perinatal surgical management].

As the use of prenatal ultrasound sonographic study becomes more popular, it is likely that several fetal anomalies of the central nervous system will be diagnosed in utero more frequently and accurately. Obstetric sonogram correlates well with the results of postnatal CT scanning. Now, with improved diagnosis and support facilities for the newborn, neurosurgical intervention is being requested, as more concern is expressed for such fetus. We have experienced seven cases of fetal disorders of the central nervous system-meningocele, meningoencephalocele, myeloschisis, arachnoid cyst and maximal hydrocephalus. When diagnosed late in gestation (after the 2nd trimester), it may be reasonable to consider early delivery at the time of pulmonary maturity, and extrauterine management to decrease secondary damage to the developing central nervous system. The method of delivering a fetus must be tailored to suit each case. We present our program for the management of fetal hydrocephalus-placement of a subcutaneous low profile Ommaya's reservoir for neonate immediately after birth, and then subsequently conversion to a ventriculoperitoneal shunt three or four weeks later. As advances are made in antenatal diagnostic techniques and appropriate therapy, prognostic data on congenital abnormalities of the central nervous system will increase and become more pertinent.

Arachnoid↗
PubMed1989

[Magnetic resonance imaging in paralysis of the upper limb of traumatic origin].

We have used magnetic resonance imaging in addition to the other imaging techniques for the examination of 31 patients with traumatic upper limb paralysis. The therapeutic indications of traumatic brachial plexus paralysis depend on the early and precise assessment of the lesions. Computed tomography with a contrast injection at a lumbar level opacifying the subarachnoid spaces provides a morphological study of the canal, spine and nerve roots and of container-contents relationships. In our experience, the diagnostic reliability for the detection of intraspinal radicular lesions is 86%. A study in all 3 spatial planes is possible with MRI with T1- and T2-weighted or gradient echo sequences. The reliability of the technique for the diagnosis of meningoceles in the detection of nerve root avulsion is similar to that of CT (85%). The excellent spatial resolution and natural high contrast allow following the nerve roots in their extraspinal course and determining the site of nerve trunk rupture (50%). The use of oblique and double-obliquity sections should yet improve these results. These first results lead us to proposing magnetic resonance imaging for the exploration of traumatic lesions of the brachial plexus. This nonagressive, more precise and more complete assessment of the lesions certainly has a significant influence on therapeutic choice.

Adolescent↗
PubMed1986

Nasal dermal sinuses and cysts.

Nasal dermal sinuses and cysts are best detected by careful clinical inspection of the face for tiny ostia or widening of the nasal bridge and by detailed radiologic evaluation of the nasal bones, nasal septum, crista galli and falx. The sinus tracts may remain superficial to bone, extend partway into the nasal septum or pass far posterosuperiorly beneath the nasal bones, through the foramen cecum, and anterior to or through a bifid crista galli to lie between the leaves of the anterior falx. Glabellar sinuses may pass through the midline frontonasal suture to the foramen cecum, crista galli and falx. These courses correspond to embryonic midline diverticula of dura (with or without arachnoid and brain tissue) that protrude into a) the fonticulus nasofrontalis and b) the prenasal space situated behind the nasal bones and in front of the nasal capsule, occasionally reaching the surface ectoderm. Persistence of variable portions of these diverticula results in the clinical spectrum of nasal sinus tracts, fibrous cords, interposed (epi)dermoids, meningoceles, encephaloceles and 'gliomas'.

Adolescent↗
PubMedDate not supplied

[Cauda equina syndrome with plantar perforating ulcer and neurogenic osteoarthropathies in a case of rheumatismal pelvospondylitis].

The authors report a case of ankylosing spondylitis complicated by a cauda equina syndrome presenting with a plantar perforating ulcer and lesions of neuropathic arthropathy of the foot. On the basis of an analysis of 54 cases published in the literature they review the principal aspects of this complication of ankylosing spondylitis. Neurological manifestations occur late after several decades of progression of the disease. Urinary sphincter problems are common whilst trophic disturbances remain rare. Myelography and, above all, lumbar CAT scan reveal characteristic and stereotyped anatomical lesions: widening of the dural sac in its posterior part with meningoceles eroding the posterior vertebral arch. The pathogenic mechanisms are unknown. The authors suggest that lesions may start with posterior epidural inflammation rather than a primary process of arachnoiditis as has been mentioned in earlier publications.

Aged↗
PubMedDate not supplied

[Esophageal communication with a totally sequestrated hypoplastic right lung].

Pulmonary sequestrations involving communication with the digestive tractus are known as bronchopulmonary foregut malformations. The authors add a peculiar case report: there was an hypoplastic right lung with a total sequestration from the bronchial tree and communicating with esophagus. This was fed from the pulmonary vasculature without collateral artery formation. The pulmonary vein was normal. Association with a facial dysmorphia and an occipital meningocele is also of interest. The radiological diagnosis is based on the pulmonary X-Ray and the oesophagogram.

Abnormalities, Multiple↗
PubMed1986

Questionnaire study of cancer etiology in 503 children.

Usefulness of an etiologic questionnaire was examined in an interview study of 503 children with cancer. The medical records of the children were abstracted, and their parents responded to a questionnaire-interview to identify genetic and environmental causes of cancer. Among 1,123 siblings of the index patients, 10 developed cancer as compared with 2 expected on the basis of cancer rates for the general population. Cancer risk factors were identified in individual patients with predisposing genetic and congenital disorders: neurofibromatosis (brain tumor), hereditary immunodeficiency (lymphoma), Down's syndrome (leukemia), XY gonadal dysgenesis (germ cell tumor), giant nevus (melanoma), and meningocele (sacral teratocarcinoma). Environmental causes of childhood cancer were difficult to discern because prior exposures were numerous, diverse, and usually ill defined. The questionnaire yielded more data than the medical record on gestational and family history and helped identify patients with exceptionally high cancer risk for additional investigation. Although the findings provide anecdotal confirmation of several associations, few original etiologic hypotheses were generated for formal testing with conventional epidemiologic techniques.

Adolescent↗
PubMed1988

MR imaging of the spine in children.

MR imaging was reviewed in 66 pediatric spinal cord patients with diagnoses of posterior fossa tumor (n = 8), primary spinal cord tumor (n = 3), metastatic disease (n = 11), neuroectodermal disorder (n = 8), congenital malformation (n = 14), trauma (n = 2), and demyelinating, neurodegenerative, or metabolic disorders (n = 9). MR proved to be useful in delineating the extent of posterior fossa and cord tumor including metastasis to the cord. MR was of limited value in demyelinating and metabolic disorders. Arnold Chiari malformations, syringomyelia, tethered cord and meningoceles were all easily evaluated using MR.

Child↗
PubMed1988

Dural ectasia is a common feature of the Marfan syndrome.

Widening of the lumbosacral spinal canal was found in 63% of 57 patients with the Marfan syndrome and in none of 57 age- and sex-matched non-Marfan control patients, who underwent CT scanning for routine clinical indications. The bony abnormalities in mild cases consisted of thinning of the pedicles and taminae and erosion of the neural foraminae and were generally limited to L5 and S1. More severe changes were present in 13 patients, two of whom had associated neurologic signs, and included meningoceles or near total erosion of a pedicle. Presence and severity of vertebral abnormalities were associated with neither any other clinical feature nor overall phenotypic severity. Dural ectasia can be added to the list of pleiotropic manifestations of the Marfan syndrome.

Adult↗
PubMed1988

[Electrophoresis of cholinesterases of the amniotic fluid in the prenatal diagnosis of closure defects of the neural tube].

The value of acetylcholinesterases (AChE) qualitative analysis as a tool for the diagnosis of fetal neural tube defect has been investigated in a series of 2,815 amniotic fluid samples. This test successfully identified all the 84 cases of open neural tube defects, 16 of which had been missed by ultra-sonography. AChE electrophoresis made it possible to exclude one false positive ultrasound diagnosis of neural tube defect, and to differentiate meningocele from myelomeningocele. Our experience suggests that AChE electrophoresis should be carried out in place of amniotic fluid alpha-fetoprotein estimations, in all cases of fetal abnormality detected by ultrasound scanning especially in fetal hydrocephaly, and in all pregnant women with an history of a previous pregnancy with a neural tube defect.

Acetylcholinesterase↗
PubMed1986

Antenatal diagnosis and obstetric management of Dandy-Walker syndrome.

Real-time ultrasound equipment has the potential for investigating the fetal neural axis and allows the diagnosis of many anomalies arising from this area. Five cases of Dandy-Walker syndrome, one of the major causes of congenital hydrocephalus, were diagnosed antenatally. In all cases ultrasound allowed specific recognition of the defect in the cerebellar vermis. This defect connected the fourth ventricle to a posterior fossa cyst in four cases and to an occipital meningocele in one case. In three cases the diagnosis was made prior to viability, and the parents elected termination of pregnancy. In two cases recognized in the third trimester, neurosurgical care was provided soon after delivery.

Brain↗
PubMed1987

Spinal dysraphism.

Spinal dysraphism is common in North America, affecting from one in 500 to one in 1,000 newborns. Although dysraphic conditions vary widely, most can be recognized before any significant neurologic harm occurs. Lesions include simple meningocele, myelomeningocele and tethered spinal cord. Modern imaging techniques delineate the anatomy of the defect, permitting prompt neurosurgical repair, correction of neurologic deficits and prevention of further deterioration.

Female↗
PubMed1986

[Transappendicular continent cystostomy. Critical study apropos of 30 cases].

UNLABELLED: Continent vesicostomy using appendix has been performed in 30 incontinent children (myelo-meningocele). Surgical technique is described laying stress on the closure of the bladder neck and the appendix arrangement: appendix is implanted in the bladder with an antireflux sub-mucosal tunnel and the other end is hemmed to the skin. Self-catheterization is very easy. All patients are dry but the rate of complications was very high: 77%--8 leakage through the bladder neck imposing one or two re-operations. 10 uretero-hydronephrosis related to a small and hypertonic bladder: enterocystoplasty with good results--5 lithiasis--2 perforations. Success of this technique is closely linked to the construction of a large and low pressure bladder: 11 enterocystoplasty have been performed secondarily and 4 during the first operation. Actually 26/30 patients are well with normal kidneys and excellent comfort. FOLLOW-UP: 1 to 7 years.

Appendix↗
PubMed1987

The CHILD syndrome. Histologic and ultrastructural studies.

A 4 1/2-month-old female infant had cutaneous and musculoskeletal changes consistent with the diagnosis of congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome. This syndrome encompasses abnormalities of several organ systems, and its origins and pathogenesis are poorly understood. This report describes an additional patient with this uncommon syndrome and includes light and electron microscopic studies of her skin lesions. Our patient's clinical features of meningocele, Shone's syndrome, and the electron microscopic findings have not previously been described in the American literature (to our knowledge) in association with this syndrome.

Abnormalities, Multiple↗
PubMed1985

[Brain stem auditory evoked potentials for assessment of isolated fourth ventricle in three patients].

Isolated fourth ventricle is an untoward but interesting complication caused by the shunt procedure, which has been recognized since the introduction of CT scanning. Auditory brain stem evoked potentials (BAEPs) were recorded in a patient with isolated fourth ventricle for assessment of brain stem function. Case 1. A 9-year-old boy. He had undergone repair of the lumbosacral meningocele at birth, followed by shunting procedures, including repeated shunt revision, for hydrocephalus which subsequently developed. CT scanning on admission revealed typical findings of isolated fourth ventricle, while neurological examination disclosed no abnormalities. BAEPs on admission revealed normal waves both in amplitude and latency. This patient has been doing well without further shunting procedures. Case 2. A 17-year-old male was admitted with complaints of headache, diplopia, nystagmus and ataxic gait. He had a history of operation for radical removal of cerebellar astrocytoma and lateral ventriculo-peritoneal shunt at 9 years of age. CT scanning on admission revealed a typical isolated fourth ventricle, and fourth ventricle-peritoneal shunt was performed. Postoperative serial BAEPs revealed gradual improvement of brain-stem function. Clinically he has been symptom-free thereafter except for slight nystagmus. Case 3. A 2-year-old female suffering from hydrocephalus developed after neonatal intraventricular hemorrhage and ventriculitis. After repeated revision of a lateral ventriculo-peritoneal shunt, she was admitted in semicoma with vomiting and opisthotonic posture. CT study revealed an isolated fourth ventricle and preoperative BAEPs showed marked abnormalities. Although fourth ventricle-peritoneal shunt was performed, no remarkable change in BAEPs was obtained, and neurological deficit of considerable degree persisted.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗