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PubMed1986

Electromyographic studies of congenital mirror movements.

We studied two patients with congenital mirror movements. In one, the movements were associated with impaired sensation and a cervicodorsal meningocele. In the other, no abnormality of the nervous system was found. In an EMG study, the normal temporal characteristics, response latency, duration, and amount of EMG on the normal and mirror sides suggest that similar motor commands are responsible for both voluntary and mirror movements.

Adolescent↗
PubMed1988

Scalp and calvarial masses of infants and children.

Review of 70 children presenting with a solitary nontraumatic lump on the head revealed that 61% of the lesions were dermoid tumor, 9% were cephalhematoma deformans, 7% were eosinophilic granuloma, and 4% were occult meningoceles and encephaloceles. Most of the dermoid cysts occurred along sutural lines, but some did not. One of the eosinophilic granulomas was located over the sagittal suture. Seventeen per cent of the "lumps" had significant intracranial extension. An additional 20% of the lumps extended intracranially, but only to the dura mater. Work-up of these lesions should include initial plain skull roentgenograms to assess multiplicity and appropriate computed tomographic scans to assess possible intracranial extension.

Adolescent↗
PubMed1987

Cephaloceles.

The meningoceles and encephaloceles of the calvaria and base of the skull are reviewed with regard to origin and local behavior. An additional variant is added to the subgroup of nasopharyngeal cephaloceles, the basioccipital nasopharyngeal cephalocele, which only recently has become recognized. The clinical importance, techniques for its identification, and surgical management are discussed with the aid of a case report.

Encephalocele↗
PubMed1979

Inheritance and spondylolisthesis: a radiographic family survey.

A radiographic suvey has been carried out of 147 first-degree relatives of forty-seven patients treated in Edinburgh for spondylolisthesis of the fifth lumbar vertebra; twelve patients had the dysplastic (congenital) type and thirty-five an isthmic defect. The survey identified 19 per cent of relatives with spondylolysis, and index patients with each type of spondylolisthesis had relatives with the opposite type. Index patients with the dysplastic form had a higher proportion of affected relatives (33 per cent) than had those with the isthmic type (15 per cent), but both figures were significantly in excess of the estimated frequency for the general population of under 1 per cent and 5 per cent respectively. Spina bifida occulta at the fifth lumbar or first sacral level or both, and lumbosacral segmental defects were commoner amongst all individuals with spondylolysis than amongst unaffected relatives (dysplastic form 94 per cent, isthmic type 32 per cent, unaffected relatives 7 per cent). However, there was no single instance of a neural tube defect (anencephaly, spina bifida with or without meningocele, other generalised vertebral anomalies or spinal dysraphism) amongst 826 first-, second- or third-degree relatives. It is concluded that the developmental defects of the vertebrae associated with spondylolysis are not aetiologically related to the neural tube defects. The one in three risk of spondylolysis to near relatives of patients with the dysplastic form of spondylolisthesis is emphasised in order that the deformity in their sibs and children can be recognised at any early age.

Adolescent↗
PubMed1997

Primary mediastinal tumors: part II. Tumors of the middle and posterior mediastinum.

Lymphoma, mediastinal cysts, and neurogenic neoplasms are the most common primary middle and posterior mediastinal tumors. Lymphoma may involve the anterior, middle and/or posterior mediastinum, frequently as lymphadenopathy or as a discrete mass. Foregut cysts are common congenital mediastinal cysts and frequently arise in the middle mediastinum. Pericardial cysts are rare. Schwannoma and neurofibroma are benign peripheral nerve neoplasms, represent the most common mediastinal neurogenic tumors, and rarely degenerate into malignant tumors of nerve sheath origin. Sympathetic ganglia tumors include benign ganglioneuroma and malignant ganglioneuroblastoma and neuroblastoma. Lateral thoracic meningocele is a rare cause of a posterior mediastinal mass.

Combined Modality Therapy↗
PubMed2003

Clinical spectrum of mediastinal cysts.

OBJECTIVES: Congenital cysts of the mediastinum are an uncommon but important diagnostic group, representing 12 to 30% of all mediastinal masses. The purpose of this study was to review our institutional experience with congenital cysts of the mediastinum, emphasizing the clinical spectrum of the disease. DESIGN: Retrospective study. OBJECTIVES: University hospital unit of general thoracic surgery. METHODS: We retrospectively reviewed the records of 105 patients with cysts of the mediastinum (50 male and 55 female patients) who comprised 13.0% of mediastinal masses over the past 50 years. RESULTS: There were 10 pediatric patients (< 15 years old) and 95 adult patients. The prevalence of cysts in the adult populations was higher than that in children (14.1% vs 7.7%, p < 0.05). There were 47 bronchogenic cysts, 30 thymic cysts, 12 pericardial cysts, 7 pleural cysts, 4 esophageal duplications, 2 meningoceles, 1 thoracic duct cyst, and 2 others. MRI has become a useful tool for providing supplemental data in combination with CT. Overall, 38 patients (36.2%) with mediastinal cysts were symptomatic, including 39.2% with bronchogenic/esophageal cysts, 40% with thymic cysts, and 15.8% with pericardial/pleural cysts. One hundred patients had complete resection of their masses, 3 patients with pericardial diverticulum received a thoracoscopic fenestration without mortality, and 2 patients refused surgery. CONCLUSION: Early recognition of these relatively rare lesions would lead to immediate and appropriate surgical intervention. Early surgical intervention is also important because definitive histologic diagnosis can only be established by means of surgical extirpation.

Adult↗
PubMed1975

[Caudal vertebro-medullary dysrhaphia. Intra-sacral forms].

The mean theories of the sacral spinal dysraphisms are reviewed and 4 cases of "meningeal intrasacral diverticulum" are reported. The authors prefer this term to the more common "intrasacral occult meningocele". The proeminent symptom in their cases was late vesical incontinence, which disappeared after surgery. In the pertinent literature 24 similar cases were described till now.

Adolescent↗
PubMed2004

Use of intraoperative ultrasonography during the surgical repair of pediatric cystic spinal dysraphism--technical note.

The present study investigated the benefits of intraoperative ultrasonographic guidance during the surgical repair of congenital cystic spinal dysraphic lesions. Twenty-one children with cystic spinal dysraphism who underwent surgical repair were examined by real-time ultrasonography during the surgical intervention. Five children had meningoceles, six had myelomeningoceles, four had open neural plaques, three had lipomyelomeningoceles, and three had diastematomyelia. Visualization of the cystic compartments, identification of the neural structures, and identification and localization of the associated lesions were all reliably achieved in all cases. Intraoperative ultrasonographic guidance could determine the type of lesion and the associated lipomas, ectopic tissues, dermoid and epidermoid cysts, and doubling of the spinal cord, and locate diastematomyelic spurs, bands, and adhesions. Components filled with cerebrospinal fluid appeared as anechoic areas, and lipomas as hyperechoic. Intraoperative ultrasonographic guidance allowed the surgeon to correlate the complex anatomy identified on preoperative computed tomography and magnetic resonance imaging to the surgical site during the operation. Better orientation to the defect allows appropriate repair of the lesion with optimal preservation of neural tissues.

Child, Preschool↗
PubMed1976

Spinal neurofibromatosis.

Neurofibromatosis is a congenital abnormality due to maldevelopment of the neurectoderm and mesoderm. Spinal abnormalities are a frequent occurrence and the roentgenological changes observed in 21 patients are presented. These include scoliosis, posterior scalloping of vertebral bodies, and the roentgenological features associated with intraspinal tumors and thoracic meningoceles.

Central Nervous System Diseases↗
PubMed1989

Closed spinal dysraphism: analysis of clinical, radiological, and surgical findings in 104 consecutive patients.

We reviewed 104 consecutive cases of closed dysraphism in patients seen at one institution between December 1984 and June 1987. All patients had myelographic studies, and 43 had associated CT examinations. Clinical and surgical findings (64 patients) were correlated with myelographic information. Twenty-three patients (22%) with clinical or plain film findings compatible with dysraphism had normal-appearing cords on conventional myelography, movement between supine and prone positions, and no lesions in the spinal canal. Cerebellar tonsillar ectopia (majority of tonsils between foramen magnum and C1) was found in 17 patients (16%). Six patients (6%) exhibited varying degrees of hydromyelia. In the supine position, CT-myelography of meningoceles, meningomyeloceles, or lipomeningomyeloceles may limit demonstration of the neural placode and nerve roots because of compression of the CSF-containing sac. In the decubitus position, CT scans improved demonstration of neural tissue-CSF space relationships. CT scans were useful in demonstrating anomalous paraspinal bones, diastematomyelia spurs, and spinal and sacral bone deficiency. Axial CT-myelography of intradural lipomas showed apparent neural tissue extension into the lipomas.

Child↗
PubMed1989

Gd-DTPA-enhanced MR imaging of spinal tumors.

Forty-eight Gd-DTPA-enhanced MR examinations of the spine were performed in 40 patients referred for MR because of clinically suspected spinal tumor or for further evaluation of an expanded cord. The study group consisted of 32 patients with spinal tumors (seven ependymomas; seven astrocytomas; four hemangioblastomas; two arteriovenous malformations; two unidentified intramedullary neoplasms; four meningiomas; and single cases of metastatic breast carcinoma, cavernous hemangioma with associated hematomyelia, neurinoma, angiolipoma, drop metastasis from medulloblastoma, and epidermoid with diastematomyelia). In the remaining eight patients, other diagnoses were established: thoracic disk herniation (two patients), lumbosacral meningocele (one), syringomyelia secondary to arachnoiditis (four), and expanded cord secondary to gliotic tissue (one). All but two diagnoses were proved histologically by biopsy, surgery, or autopsy; in the two patients with arteriovenous malformations, the definitive diagnosis was made by spinal angiography. Contrast enhancement occurred in 30 of the 32 spinal tumors, and Gd-DTPA-enhanced T1-weighted images proved helpful in defining and outlining intra- and extramedullary spinal neoplasms. All ependymomas and astrocytomas (including low-grade astrocytomas) enhanced. In meningiomas, an immediate and uniform contrast uptake was demonstrated. Additional advantages of Gd-DTPA MR include the differentiation of solid tumor components vs syrinx or cyst or pseudotumoral areas of cord expansion, and the differentiation of residual or recurrent tumor from scar tissue in postoperative patients. Our results suggest that IV-injected Gd-DTPA improves MR sensitivity and specificity in the evaluation of spinal lesions.

Astrocytoma↗
PubMed1990

Cloacal exstrophy: radiologic findings in 13 patients.

Cloacal exstrophy is a complex, multisystem malformation that has not received much attention in the radiologic literature. The clinical histories and imaging studies of 13 cases of cloacal exstrophy proved surgically or at autopsy were reviewed. Radiologic observations were based on skeletal plain films (13), contrast-enhanced examinations of the genitourinary system (12), abdominopelvic sonograms (nine), gastrointestinal studies (seven), CT scans of the pelvis and CNS (seven), MR images of the pelvis and CNS (six), renal nuclear medicine scans (three), myelography (three), and three-dimensional scans of the pelvis (two). Genitourinary and gastrointestinal abnormalities identified in our 13 patients included bladder malformations (13), hindgut anomalies (13), undescended testes (five), malrotation (five), duplicated müllerian structures (four), and renal ectopia (four). Skeletal abnormalities included symphysis pubis diastasis (13), posterior element dysraphism (12), vertebral segmentation anomalies (12), clubfeet (six), and hip dislocations (five). CNS anomalies included meningocele (nine) and Chiari malformation (one). Immediate surgical closure of the defect with maximal bowel preservation and diverting colostomy offers optimal chances for survival. Appropriate preoperative gastrointestinal and genitourinary evaluation is essential.

Abnormalities, Multiple↗
PubMed1994

Diastematomyelia: diagnosis by prenatal sonography.

OBJECTIVE: Diastematomyelia is a form of spinal dysraphia involving a sagittal cleft in the spinal cord with splaying of the posterior spinal elements. This may be an isolated abnormality or in association with more serious dysraphic conditions. In isolated diastematomyelia, the skin is intact and the prognosis excellent. This study aimed to determine the usefulness of prenatal sonography in diagnosing diastematomyelia and in predicting the isolated form. SUBJECTS AND METHODS: The usefulness of the sonographic findings of an extra posterior echogenic focus between the fetal spinal laminae and splaying of the posterior elements for the prenatal sonographic diagnosis of diastematomyelia was assessed in five cases prospectively and in one case retrospectively. The posterior echogenic focus was first seen on prenatal sonograms at a mean age of 19 weeks' gestation (range, 18-20 weeks). The final diagnosis of diastematomyelia was made at autopsy in two cases (one with an associated meningocele), at postmortem radiography in one, at surgery in one, and at CT myelography in two. Postnatal spinal sonograms were obtained in each case. The ability to detect fetal spinal widening on prenatal sonograms was compared with the postnatal radiologic appearance on spinal plain film radiographs. RESULTS: Diastematomyelia was confirmed in all five cases where the extra posterior echogenic focus was seen at prenatal sonography. The double spinal cord was within a single dural sheath in three cases, with no bony bar present. A double dural sheath with a bony bar was noted in a fourth case. In the fifth case, a bony bar was seen on a postmortem spinal X-ray, but a double dural sheath could not be confirmed because an autopsy was not performed. In the case where diastematomyelia was not suspected on prenatal sonograms, the dural sheath was single and no bony bar was present. Splaying of the posterior elements was seen on postnatal radiographs in all cases but was suspected in only four on prenatal sonograms. Prenatal sonography accurately predicted isolated diastematomyelia in four cases and complicated diastematomyelia in one case. The one case missed prenatally was of isolated diastematomyelia. CONCLUSION: A diagnosis of diastematomyelia can be made if an extra posterior echogenic focus is seen on prenatal sonography. Splaying of the posterior elements of the fetal spine is frequently present. The pregnancy should be managed differently depending on whether the diastematomyelia is isolated, with the skin intact, or is in association with more serious neural tube defects. This distinction is possible prenatally.

Female↗
PubMed1994

Choanal atresia and congenital pharyngeal stenosis.

From 1980 to 1992, 8 patients with choanal atresia were treated in our facility. The female to male ratio was 5:3. One patient, a girl, had unilateral osseous obstruction with membranous closure of the opposite naris while the other 7 had bilateral osseous obstruction. Seven of the 8 had other congenital anomalies, CHARGE association (2 cases), Apert's syndrome (1 case), meningocele and banded fingers (1 case), omphalocele (1 case), subdural hematoma (1 case), and nasal fistula (1 case). Of the 7 patients who underwent endonasal surgical repair, 3 (40%) experienced reclosure. The remaining one patient, whose obstruction was of the bilateral osseous type, was successfully operated on via a transpalatal approach. Surgical correction is particularly difficult in those with craniofacial abnormalities, e.g. Apert's syndrome and maxillary hypoplasia. We treated 5 congenital pharyneal stenosis cases (CPS). Our CPS cases were divided into Types 1, 2 and 3, the latter being a new type not previously reported on. We consider Type 3 to be the result of fetal tissue remnants. We performed uvula splitting surgery in 4 cases and obtained good results in 3.

Abnormalities, Multiple↗
PubMedDate not supplied

Poorly organized parasitic conjoined twins: report of four cases.

We report four examples of parasitic conjoined twins (PCT) that created difficulties in diagnosis and treatment because of their unusual presentation and poor internal organization. Case 1 appeared as a tumor on the back containing an adrenal gland and part of the small bowel and stomach; two spines with spinal cords were present. Case 2 was similar, but mature and immature renal tissue were included and a meningocele with Arnold-Chiari type II malformation was recognized in the autosite spine. Retrospective interpretation of both cases suggested that the left lower limb and pelvis were part of the parasites. In case 3 the parasite was attached at the perineum and lower abdomen, contained a rudimentary spine in continuity with the coccyx of the autosite, and was partially covered by scalp. Case 4 presented as a limblike tumor attached at the suprapubic region. All cases were complicated by disruptions in the autosites. Surgical treatment was successful in cases 1, 2, and 3. These four anatomically poorly organized PCT are best categorized as intermediate between teratomas and the more common types of PCT.

Adult↗
PubMed1979

Myelocystocele with cerebellar heterotopia. Case report.

The authors describe a case with well differentiated cerebellar tissue contained in a hydromyelic dilation of the spinal cord, that is, myelocystocele, in connection with a cervicothoracic meningocele. The embryology is discussed.

Adult↗
PubMed1983

Epidermoid cyst occurring within a lumbosacral myelomeningocele. Case report.

The authors report the case of an infant who presented with an epidermoid tumor contained in a lumbosacral myelomeningocele. The association of spina bifida aperta and congenital intraspinal tumors is rare. Only two cases of teratoma and two cases of epidermoid tumors arising within a meningocele have been documented previously.

Epidermal Cyst↗