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Sonography has proved to be a valuable method for the examination of the spine in children with spinal dysraphism. It facilitates the diagnosis of meningocele, lipoma, and/or spinal cord tethering rapidly and noninvasively. It is suggested that sonography be utilized for screening infants with neurocutaneous signature of spinal dysraphism.
In 42 cases, fetal abnormalities were diagnosed by obstetric ultrasonography and the pregnancy was terminated. The malformations included: anencephaly (22), severe hydrocephaly (4, one with a spina bifida), encephalocele and meningocele (2) amniotic band syndrome (4; a correct prenatal diagnosis was performed during the second trimester in two cases), major anterior abdominal wall defects (2), Pena-Shokeir syndrome type I? (I), severe renal abnormalities (2), conjoined twins, dicephalus type (2), cystic hygroma and hydrops fetalis (2), osteogenesis imperfecta, type II (I). Thus, there were 23 fetuses with a polygenetically determined status; five fetuses could be affected by an autosomal recessive disorder.
Fifteen patients with recalcitrant cerebrospinal fluid (CSF) fistula underwent the insertion of a lumboperitoneal shunt. The shunt consists of a two-piece Silastic tube and has been used in a population of 150 patients with communicating hydrocephalus, persistent postoperative meningocele, and benign intracranial hypertension. The spinal catheter is introduced subcutaneously and no flushing device is used. We studied three groups: 9 patients had a history of head trauma, and 7 of these had undergone one or several ineffective direct approaches to the dural leak. Four patients presented with a presumably congenital fistula. Two patients had persistent rhinorrhea due to previous intracranial procedures. Indium-111 cisternography was performed in 10 patients before lumboperitonel (LP) shunting and failed in 2 of those to document the site of leakage. Twelve patients showed cessation of rhinorrhea after LP shunting. In 4 of these, shunt-related complications responded to shunt removal with no further recurrence of rhinorrhea. Two patients underwent revision of the shunt. In 3 patients, the LP shunt failed to control the CSF leak and further intracranial procedures were indicated. The LP shunt provides an attractive and technically simple solution when direct methods of treatment have failed. Additionally, LP shunting should be considered as a primary mode of treatment in elderly patients or when impairment of CSF dynamics is documented by radionuclide cisternography and computed tomographic scanning. When an LP shunt is ineffective, shunt function should be checked by isotopic studies before additional surgery is performed.
By means of an injury of the spinal cord by a glass fragment in a 13-year old boy the problems of operative treatment of penetrating spinal cord wounds are represented. Provided that spinal computer tomography and microsurgical operative techniques are available, penetrating spinal cord injuries should be treated surgically after spinal cord edema has disappeared. By this means secondary infections, meningoceles, and adhesions of the spinal cord to the scar tissue can be prevented.
We have extended our initial observations (Smith et al., 1979) on th use of determining the alpha-fetoprotein (AFP) concanavalin A-binding variant patterns in amniotic fluid for the detection of certain fetal malformations. We report here our complete series of amniotic fluids between 14 and 36 weeks of gestation from 52 normal pregnancies and 28 abnormal pregnancies including anencephaly, open spina bifida, Turner's syndrome, omphalocele, osteogenesis imperfecta congenita, meningomyelocele, meningocele, spinal cysts, spontaneous abortion and fetal death. The percentage of the total amniotic fluid AFP which was not reactive with concanavalin A was significantly lower in the presence of a communicating fetal abnormality (mean = 4.8%, P less than 0.001), one in which the fetal/amniotic fluid barrier is defective, than in the presence of a normal fetus (mean = 24.7%) (or of a noncommunicating fetal abnormality. We applied the concanavalin A-binding assay to two of the above amniotic fluids from pregnancies in progress and correctly classified the gestations as abnormal. Our results indicate that measurement of the percentage of concanavalin A-non-reactive amniotic fluid AFP is a valuable adjunct in the diagnosis of a communicating fetal abnormality, especially when the elevation of amniotic fluid AFP concentration is equivocal (between 2 and 5 S.D. above the mean), when gestational aging is uncertain or when the total amniotic fluid AFP concentration and ultrasonographic data are inconsistent.
The basic abnormality of neurofibromatosis consists not only of a maldevelopment of the neuroectoderm but also of the mesoderm. Therefore any organ or system of the body may be involved. Following a short clinical review of the central (acoustic) and peripheral type the well known and the more unusual radiographic findings are summarized. They include cranial and intracranial manifestations (orbitosphenoid dysplasia, bone defects of the skull, acoustic neuroma, glioma of the optic nerve and chiasm, meningioma), spinal lesions (scoliosis, vertebral scalloping, meningocele, neuroma, ependymoma), skeletal abnormalities (pseudarthrosis), cardiovascular manifestations, pulmonary fibrosis, tumors of the gastrointestinal and urinary tract and different endocrinopathies. Some of the roentgenologic symptoms are very characteristic and allow definitive diagnosis.
Ectopic intrathoracic kidney is an extremely rare congenital disorder. It is generally asymptomatic, being discovered as incidental finding on a routine chest radiograph. Diagnosis is established by an intravenous pyelogram demonstrating an abnormally shaped excretory system with longer than usual ureters, which also helps to differentiate it from other posterior mediastinal tumors, such as neurogenic masses, including neuroblastoma, ganglioneuroma, neurofibroma, neuroenteric cysts, meningoceles and hernia of the foramen of Bochdalek.
The authors studied a human specimen delivered at 36 gestational weeks and presenting with a caelosomia. The various abnormalities could be classified as: superior caelosomia: ectocardia, diaphragmatic hernia; middle caelosomia: liver outside the abdominal cavity, mesenterium commune O, meso-hepato-cave; inferior caelosomia: cloacal extrophia. In addition to the forementioned abnormalities, a lumbosacral meningocele and multicystic kidneys were found. All these abnormalities are exceptionally found all together in one human specimen and this monster might be classified in the total caelosomia group.
After preceding lumbar intervertebral disk operations, 88 Dimer-X myelographies were carried out. The examinations were performed with the patients in a lying position; if required, function pictures were taken in a sitting or standing position. Only in three cases the X-ray findings were unconspicuous. The findings included 12 prolapses at other levels, 6 prolapses, 5 massive scars, one pronounced osteophytosis, two cases of serious reticulitis, two meningoceles and one neurinoma outside the field of operation. The dorsal or lateral narrowing of the contrast band typical of prolapses found in the first dimer-X myelogram were only produced by scars in the renewed operation. The authors warn against pantopaque myelography for lumbar intervertebral disk diagnosis because of proven arachnoidal adhesions. The necessity of surgical procedures avoiding as far as possible tissue damage leaving scars and adhesions is stressed.
In the past, neurologic deficits found in association with sacral agenesis were thought to be unamenable to surgical therapy. Recent experience and a careful review of autopsy and case reports form the literature have demonstrated that this assumption is unwarranted. Four cases of sacral agenesis are reported with description of the myelographic findings of each case. Surgical confirmation was obtained in three of these patients. Dural sac stenosis treated with duraplasty resulted in striking improvement in the neurologic status of two patients, while in the third, a 2-month-old infant, adhesive arachnoidal bands in the distal thecal sac were found at surgery and a taut and thickened filum terminale was transected. The fourth patient has a low-lying spinal cord and a posterior meningocele. The myelographic findings appear to be divisible into two categories. One group of patients may have high termination of the subarachnoid space with a dural sac stenosis and will benefit from duraplasty, while in the other, findings may include a widened or normal subarachnoid space and low-lying tethered spinal cord. It is emphasized that treatment of dural sac stenosis, tethered cord, and intrathecal or extrathecal masses that occur in some of these patients may afford significant improvement in their neurologic condition. These children deserve careful baseline neurologic evaluation and follow-up and a more aggressive approach toward adequate myelographic assessment.
Two children of normal parents had "Dandy-Walker syndrome" (cystic dilatation of the 4th ventricle with incomplete development of the cerebeller vermis). Both cases were admitted to our hospital in neonatal period, because of apneic spell. Air study showed the enlargement of the 4th ventricle in both cases. One case (22 days after birth, male infant) was operated by occipital craniotomy, and cystic membrane of the roof of the 4th ventricle was removed. But his head was growing rapidly in size, which suggested hydrocephalus. He died of pneumonia at 70 days after V-P shunt operation. At autopsy, defect of the cerebellar vermis and tonsil, involving the enlargement of the 4th ventricle was found. Another case, younger sister of the previous one, was complicated by occipital meningocele, which did not communicated with ventricular system. Her occipital tumor was removed, and now, she is growing normally in body size, but does not react to the visual stimuli with considerable psychomotor retardation. In our cases, occlusion of the foramina Luschka and Magendie was not present. So, we have come to the conclusion that primary underdevelopment of the cerebellum is of major importance for understanding of the etiopathogenesis of this syndrome.
Calvarial bone defect associated with a hugh neurofibroma in the region of the lambdoid suture was reported in a 42-year-old man with v. Recklinghausen's neurofibromatosis. An enlarging occipital tumor was first noted at age 4 similar to or approximately 5, and an operation was performed at age 12. Lambda defect was noted at that time, but the operative diagnosis was, apparently, "meningocele". Available literature was reviewed, and the significance of calvarial bone defect in the region of the lambdoid suture as a manifestation of v. Recklinghausen's disease was stressed. Lambda defect witn no sclerosing margin, particularly if associated with hypoplasia of the ipsilateral mastoid cells, has been known to represent the primary nature of the bone defect due to mesodermal dysplasia. In the present case, plain radiographs of the skull revealed abnormal sclerotic change around the bone defect. It is suggested that such an osteoblastic change may well indicate the secondary nature of the bone defect due to the presence of overlying neurogenic tumor.
Craniolacunia is characterized by clusters of deep pits with steep edges in the cranial vault of newborn infants. And also craniolacunia is anomaly of the skull of the newborn infants usually associated with spinal meningocele, myelomeningocele and occasionally with encephalocele. The purpose of this paper is to report the results of the skull roentgenologic study of 34 newborn infants with myelomeningocele and 11 newborns with encephalocele who were treated within 7 days after birth, and, to discuss the correlations with the head circumference, level of myelomeningocele, location of encephalocele, Arnold-Chiari malformation and hydrocephalus. Roentgenograms of the skull were obtained at the time of admission and were examined regarding the presence and the degree of craniolacunia. The radiographic changes were classified according to the extension of the craniolacunia, from grade 0 to grade 3. Among 34 cases of myelomeningocele, 28 cases (82%) were observed to have craniolacunia and among 11 cases of encephalocele, 4 cases (36%) had findings of craniolacunia. In our cases, the coincidence of craniolacunia with myelomeningocele was 82% and this is higher than in previous reports. But the coincidence of craniolacunia with encephalocele was same as in previous reports. There has been no report about the incidence of craniolacunia within 7 days of life.
Encephaloceles were diagnosed in 39 patients over a 40-year interval from 1940. Thirty-three encephaloceles were located in the occipital region, 3 in parietal, 1 in glabellar, 1 in sphenomaxillar and 1 in intracranial. Nineteen patients were males and 20 were females. Eleven of 39 patients were dead. In 33 patients the encephalocele was excised and two died within a month after operation. Four patients expired within a year and other four died before the age of 4 years. Eleven of dead cases were meningoencephaloceles or meningoencephalocystoceles except one. In 6 of them the size of encephalocele was larger than 5 cm in diameter. Twenty-six patients survived 6 months fo 34 years. Six of them found to be severely retarded psychosomatically. Twenty others spend normal lives. Eldest patient whose occipital meningoencephalocele sized 4.5 cm in diameter was excised in 1945 works in a automobile dealer's shop as a car operator after graduation of a junior high school. He has two children, as well. Two patients are graduates of a high school, one a college and one a junior high school. Other patients of school age attend ordinary classes of each school with or without minimal handicaps such as paresis of one leg, unilateral visual loss, slight cerebellar ataxia, large head size and so on. Two of these 20 patients who are found to be in good state had encephaloceles larger than 5 cm in diameter, but other 18 smaller than 5 cm. Eleven of them were meningoceles. Four of 6 patients who had anterior or parietal encephalocele were found to have no neurological sequelae. Significant adverse prognostic factors were the presence of brain tissue within the sac of lesion and the size of it. However, hydrocephalus did not effect the quality of survival of our patients.
The authors carried out 66 myeloscintigraphies in 66 patients suspected of having compressing lesions of the spinal cord. In 32 cases the obtained results agreed with the results of contrast myelography which was carried out in 38 patients, and in 22 cases these results were confirmed by operations. In the remaining cases contrast myelography was abandoned in view of unequivocal results of myeloscintigraphy and conservative treatment was started. On the basis of a comparative analysis the authors stated that myeloscintigraphy is safer than contrast myelography, less troublesome for the patient and eliminates the risk connected with contrast medium remaining in the subarachnoideal space. There are practically no contraindications to its use even in outpatients, and it could even be used for screening patients with suspected spinal cord compression. Myeloscintigraphy makes possible the diagnosis of spinal tumours, arachnoideal adhesions and meningocele. In cases of nucleus pulposus prolapse the method is less reliable and less useful. For determination of the character of the pathological lesion and its relation to the spinal cord, and also in cases with doubtful results of myeloscintigraphy contrast myelography should be done.
The Meckel syndrome is inherited as an autosomal recessive monogenic trait. It associates abnormalities of the neural tube (encephalo or occipital meningocele more seldom hydrocephaly) and of the extremities (post axial polydactyly) with multicystic dysplasic kidneys. When diagnosed in a conception product, it allows one's to provide an appropriate genetic counseling as well as an early and followed-up surveillance of the next pregnancies in the affected sibship. Taking the example of two families, the authors emphasize the difficulties in diagnosing this affection (mainly due to its various expressions) and the various methods available for its pre-natal detection.
A case of 2-month-old girl with lumbosacral lipomeningocele was reported. She was admitted for evaluation of a large soft mass in the lumbosacral area, initially noted at birth. On examination, the tumor was 7 cm in diameter and 3 cm in height. The upper part of a mass was cystic. Plain X-ray films revealed bifid lower lumbar and sacal vertebra. Spinal CT scans revealed a mass and bifid spine. An area with EMI units, 2.4+/-4.2, at L4 level and another with EMI units, -52.9+/-5.5, at L5 level were seen extending from within the canal to the subcutaneous tissue. The former was identified as water and the latter as fat. The preoperative diagnosis of lipomeningocele was made. Operation was performed under the operating microscope. A meningocele sac contained no neural element and it's surface was adhesive to lipoma. Lipoma involved cauda equina and conus medullaris in the canal. We removed the extraspinal lipoma with meningeal sac and a part of the intraspinal lipoma to avoid neurological deficit. We consider, like many authors, that intraspinal lipoma should be operated as early as possible with the help of surgical microscope. Early diagnosis is necessary. Myelography is valuable but caution is needed at time of lumbar or cisternal puncture. But spinal computed tomography is noninvasive and allows for precise diagnosis without contrast myelography. CT scan is extremely useful in diagnosing congenital abnormality of the spine.
A review of critical abdominal complications is made in 150 patients operated on for hydrocephalus in the surgical and neurosurgical services of the Hospital Infantil Legaria through the years 1975--1976. We found 3 colonic perforations (cecum, transverse and rectum), one abdominal perforation, one through the umbilicus, one in vagina, 1 case of plastic peritonitis and two with ascitis. In the majority of cases, such complications were satisfactorily solved; sometimes by extraction of the derivative systems, and some others by primary closure of the lesions. We only had one death. In a larger percentage, other complications were observed, being in order of frequency the following: distal catheter obstruction, proximal obstruction, infection and abdominal wall cysts. We analysed the association with spina bifida (meningocele o myelomeningocele), frequency related to age, sex, etiology and type of shunt. We reviewed the literature and suggest general measures tending to avoid such complications.