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PubMed1995

[Posterolateral extradural approach for total excision of spinal meningeal cyst (type Ia): case report].

Lateral thoracic meningocele is an uncommon disorder known to occur with high frequency in patients with neurofibromatosis. We report a case not accompanied by neurofibromatosis and describe the operative technique utilizing a posterolateral extradural approach. A 41-year-old man was referred to our cardiologic clinic for severe anterior chest pain. Plain chest X-ray demonstrated an oval mass lesion in the right 9th to 10th thoracic paravertebral region. Magnetic resonance imaging revealed a cystic mass at the 10th thoracic intervetebral foramen without distortion of the spinal cord. Signal intensity of the cystic mass was the same as the cerebrospinal fluid around the spinal cord. In the prone position, laminotomy of the 10th vertebral only was carried out. A pulsatile round mass in continuity with the dura mater was exposed. The wall of the sac, which was thickened with CSF, was identified. The neck of the menigocele was ligated with the help of an aneurysm needle. The patient's severe chest pain disappeared postoperatively.

Adult↗
PubMed1993

[Aspects of long-term management of children with myelomeningocele. Analysis of the last 10 years from the neuropediatric-neurosurgical viewpoint].

BACKGROUND: Both the use of a selective policy of treatment of newborns with myelomeningocele and the right time of back closure are still controversially discussed. We report our experiences in the long-term care of children with myelomeningocele. METHODS: 103 newborns with myelomeningocele (n = 94) and meningocele (n = 9) born 1980 to 1990 and cared for regularly at the Olgahospital's pediatric clinic were followed up from the neuropediatric-neurosurgical point of view. Postpartum we predominantly practised a selective policy of treatment. RESULTS: 15 of 21 children (71.4%) not operated on died during the first days or months of life, 6 (28.6%) survived. 70 were operated selectively, of which 9 (12.9%) died, 61 (87.1%) survived with mainly good result. There were no differences in the survival rate and frequency/type of postoperative complications with respect to the time of the back closure. 31 children with myelomeningocele (33%) had CNS anomalies other than the Arnold-Chiari-Malformation, mostly being a dys- or aplasia of the corpus callosum and a deformed ventricle system. These were diagnosed almost exclusively by CT or MRT scan. CONCLUSIONS: We still predominantly practised a selective policy of treatment of newborns with myelomeningocele with mainly good results.

Cerebrospinal Fluid Shunts↗
PubMedDate not supplied

The split notochord syndrome with dorsal enteric fistula.

Split notochord syndrome with dorsal enteric fistula is an extremely rare congenital anomaly that may be associated with meningomyelocele or meningocele, and genitourinary anomalies. This case presented with an additional finding of bladder exstrophy, raising the possibility of a relationship between this syndrome and the OEIS complex.

Abnormalities, Multiple↗
PubMed1996

[Currarino triad : a case report].

The authors report a case of Currarino triad comprising anorectal malformations, sacral bony anomaly and presacral mass. A 1-year-old boy was presented with constipation as his chief complaint. No neurological deficit was found on admission. There was no cutaneous evidence of underlying spinal dysraphism. Lumbar X-ray films showed bony defect caudal to the third sacral vertebra. A barium-enema examination revealed an anterior displacement of the rectum. A myelography showed a presacral cavity filled with contrast medium. MRI demonstrated a thick filum terminale, and a round hypointense mass in the pelvis on T1 weighted images and hyperintense on T2 weighted images. Surgically we released the thick filum terminale, and obliterated the anterior sacral meningocele, because total removal would have been hazardous. Postoperatively transient dysuria was observed for a month, and the difficulty in defecation persisted. Recognition of this rare condition will lead to correct diagnosis and proper treatment.

Abnormalities, Multiple↗
PubMed1997

[Successful management of malum perforans resulting from spina bifida].

Authors observed a boy presented a protrusion positioned lumbosacral, existing since his birth. Later, on inner side of both heels ulcers began to take shape, being not curable by local treatment. Neurologic examination verified severe radicular lesion, magnetic resonance investigation showed lumbosacral lipo-meningocele. After its surgical treatment, ulcers on soles healed up. Neurotropic ulcer develops on sites exposed to pressure, being generally painless. Several sickness may lead to its development. In childhood occurrence is relatively rare. At this age mostly various closure troubles of medullary tube may stand in the background. To successful treatment of malum perforans--besides local therapy--that of underlying illness is essential as well.

Abnormalities, Multiple↗
PubMed1997

Three-dimensional MR myelography of traumatic injuries of the brachial plexus.

PURPOSE: To determine the diagnostic accuracy of three-dimensional MR myelography in the evaluation of traumatic injuries of the brachial plexus. METHODS: Twenty patients with clinical and electromyographic evidence of traumatic brachial plexopathy were examined with three-dimensional MR myelography, conventional cervical myelography, and CT myelography 1 to 9 months after trauma. Three-dimensional MR myelography was performed on a 1.5-T MR unit with a constructive interference in steady state (CISS) technique. For each patient, maximum intensity myelographic projections and multiplanar reconstruction reformatted 1-mm axial sections were obtained from the same 3-D data set. Three-dimensional MR myelographic findings were compared with findings at cervical myelography and CT myelography. Surgical findings were available for comparison in 13 patients. RESULTS: Three-dimensional MR myelography enabled detection of meningoceles with avulsed or intact nerve roots, partial or complete radicular avulsions without disruption of the thecal sac, dural sleeve abnormalities, and dural scars. Assuming cervical myelography and CT myelography as the standards of reference, 3-D MR myelography showed 89% sensitivity, 95% specificity, and 92% diagnostic accuracy in the evaluation of nerve root integrity. CONCLUSION: Three-dimensional MR myelography can show the majority of traumatic lesions that involve the proximal portion of the brachial plexus in a single rapid examination. On the basis of our findings, we propose this technique as a screening examination for patients with traumatic brachial plexus palsy.

Adolescent↗
PubMed1992

Cerebral white matter and cognition in hydrocephalic children.

Although children with hydrocephalus frequently show poor development of nonverbal cognitive skills relative to verbal skills, little is known about the neuropathologic correlates of these discrepancies. In this study, cerebral white-matter structures and lateral ventricles were measured from the magnetic resonance images of age-matched children with meningomyelocele, meningocele, and aqueductal stenosis and normal subjects. The volume of each lateral ventricle and the cross-sectional area of the corpus callosum and internal capsules were correlated with concurrent measures of verbal and nonverbal cognitive skills. The corpus callosum in the meningomyelocele and aqueductal stenosis groups was smaller. The lateral ventricles were larger, and the internal capsules were smaller, in all patient groups than in normal subjects. There were no differences in the size of the centra semiovale. Although verbal and nonverbal measures correlated positively with the size of the corpus callosum, the correlation was higher for nonverbal measures. Nonverbal measures correlated with the right, but not the left, lateral ventricle and with the area of the right and left internal capsules. Verbal measures correlated with the left, but not right, lateral ventricle and with the left, but not right, internal capsule. These results show a relationship between the corpus callosum and cognitive skills that is also influenced by hydrocephalus-related changes in the lateral ventricles and other cerebral white-matter tracts.

Adolescent↗
PubMed2003

Endonasal endoscopic repair of spontaneous cerebrospinal fluid leaks.

OBJECTIVE: To analyze possible etiological factors of spontaneous cerebrospinal fluid (CSF) rhinorrhea and to assess the outcomes of endonasal endoscopic repair. DESIGN: Retrospective study. SETTING: Academic neurosurgical hospital. Patients Twenty-one consecutive patients who presented with spontaneous CSF leak and underwent endonasal endoscopic surgery from January 1999 through December 2001. INTERVENTION: Preoperative examination included computed tomographic scans; nasal endoscopy; measurement of glucose concentration in the nasal discharge; and, in some cases, cisternographic evaluations via computed tomography and/or magnetic resonance imaging. Telescopes, conventional endoscopic sinus surgery instruments, and a microdebrider were used for all patients who underwent endonasal surgery. A combination of plastic materials, ie, abdominal fat, fascia lata, rotated middle turbinate flaps, and fibrin glue, were used for fistula repair. RESULTS: At the time of surgery, CSF fistulas were found in the cribriform plate (6 patients), in the fovea ethmoidalis (6 patients), and in the sphenoid sinus (9 patients). In 5 of the 6 patients who had an extremely pneumatized sphenoid sinus, the source of the leak was located in the lateral extension of the sinus. A meningocele protruding through the bone defect was the source of the leak in 10 patients. Postoperative follow-up lasted from 9 to 42 months, and 20 patients were considered cured. There was only 1 recurrence, in a patient whose CSF rhinorrhea originated in the deep lateral recess of an overpneumatized sphenoid sinus. Thus, the overall success rate was 95.2%. There were no postoperative complications. CONCLUSIONS: Possible etiological factors of this disease include obesity, congenital malformations of the skull base, an overpneumatized sphenoid sinus (particularly in its lateral extensions), and the empty sella syndrome. Endoscopic endonasal repair of spontaneous CSF rhinorrhea appears to be a safe and successful procedure. However, techniques for endoscopic closure of CSF fistulas in the lateral part of the sphenoid sinus need further perfecting.

Adolescent↗
PubMed1997

Occult malformations of the skull base.

Occult malformations of the skull base are rare anomalies. They are often not detected until they give rise to complications such as meningitis or cerebrospinal fluid rhinorrhea. We used high-resolution computed tomography, fluorescein endoscopy, cisternography, magnetic resonance imaging, and duraplasty to diagnose occult malformations of the skull base in 4 patients. The four patients had had between 4 and 6 attacks of meningitis. Cerebrospinal fluid rhinorrhea was confirmed in 3 cases. The following occult malformations were found: (1) an encephalocele of the glabella/cribriform plate and a meningocele at the petrous bone apex, (2) a meningoencephalocele at the petrous bone apex, (3) dural lesions in the regions foramen rotundum/sphenoid sinus and frontal sinus/cribriform plate, and (4) a dural lesion of the sphenoid sinus. In patients presenting with recurrent meningitis, meningitis with isolation of upper airway pathogens, or cerebrospinal fluid rhinorrhea, modern diagnostic methods should be used to search for dural lesions. Diagnosis of an occult malformation makes it possible to perform the necessary surgical repair and thus prevent the further occurrence of potentially fatal episodes of meningitis.

Adolescent↗
PubMed1997

Opitz C trigonocephaly syndrome and midline brain anomalies.

We describe a child with trigonocephaly, strabismus, upslanting palpebral fissures, nasal bridge hypoplasia, hypertrophic alveolar ridges and large gingivo-labial frenula, short neck, hip "dysplasia," equinovarus deformities, cryptorchidism, atrial septal defect ostium secundum, and severe mental retardation, findings consistent with C syndrome. The patient also had a Dandy-Walker malformation, complete callosal agenesis, and occipital meningocele. These structural defects are independent of the premature closure of the metopic suture, and confirm that midline brain anomalies are part of C syndrome. The hypothesis that the basic developmental defect in this syndrome primarily affects the midline field is supported by the concomitance of other anomalies, such as conotruncal heart defects, omphalocele, and genital anomalies.

Agenesis of Corpus Callosum↗
PubMed1997

Vertebral column and spinal cord malformation in children with exstrophy of the cloaca, with emphasis on their functional correlates.

Exstrophy of the cloaca is a dramatic malformation whose embryology is poorly understood. While the management of this disorder has received significant attention in the urology and general surgery literature, the neurologic status of these children has been poorly addressed. In order to better characterize the spinal cord and vertebral column malformations found in children with exstrophy of the cloaca, we undertook a clinical review of 26 consecutive children with exstrophy of the cloaca who had been seen at a single institution over 28 years. The prevalence of vertebral malformations in the 25 children who could be evaluated was 25/25 (100%). Twenty (80%) of the children had at least one vertebral fusion, most frequently at T-7. Twenty-two (88%) of the children had at least one vertebra with deficient posterior elements, and the spinal levels most frequently involved were S-2, S-3, S-4 and S-5. Nine (36%) of the children had at least one vertebra with a narrowed interpedicular distance, most frequently at T-7. Nine (36%) of the children had at least one vertebra with atrophic facet anatomy, most frequently at L-3. The prevalence of myelodysplasia in the 19 children for whom spinal magnetic resonance imaging or intraoperative findings were available was 100%. Of these 19 children, 15 (79%) had myelocystocele, 2 (11%) had a lipomeningocele, 2 (11%) had a meningocele, 2 (11%) had hydromyelia, and 4 (21%) had a tethered cord. These data suggest that spinal cord and vertebral column malformations are very common in children with exstrophy of the cloaca.

Abnormalities, Multiple↗
PubMed1999

Fetal scalp cysts--dilemmas in diagnosis.

Detection of fetal scalp cysts may pose diagnostic challenges in terms of differentiating between structures whose origin is ectodermal, so presumed benign, and neuroectodermal, potentially having neurological significance. We describe the first case of a fetal scalp dermoid cyst to be detected antenatally and discuss the concept of sequested meningoceles which may not have neurological consequence but can be associated with other structural abnormalities.

Adult↗
PubMed1981

Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly".

The Meckel syndrome comprises a variety of defects including the classical triad of occipital encephalocele, cystic kidneys, and polydactyly. The frequencies of the various defects are more accurately represented in the affected sibs of probands than in the probands themselves, since the latter are selected according to severity and preconceived notions of what constitutes the syndrome. In a series of 38 such sibs, all had cystic dysplasia of the kidney, 63% had an occipital meningocele, 55% had polydactyly, and 18% had no reported brain malformation. In families in which the proband had the classical triad, only 68% of the affected sibs had it. It is concluded that the diagnosis of Meckel syndrome may not be valid in the absence of cystic kidney dysplasia. In babies with encephalocele or anencephaly, pathologic examination, particularly of the kidneys, is important in determining risk of recurrence. This approach to estimating the variability of a syndrome might profitably be extended to other genetically determined pleiotropic conditions.

Abnormalities, Multiple↗
PubMed1989

Femoral duplication: a case report.

Femoral duplication is a rare anomaly that has been described as an isolated entity and in association with other congenital defects. Since the description by Erlich in 1885, 24 additional cases have been reported. The present report concerns a 34-week black female infant with apparent bilateral femoral duplication associated with a meningocele and abdominal, genitourinary, vertebral, and lower-limb anomalies. The cause is unknown. Femoral duplication is a developmental field defect, hence causally heterogeneous.

Abnormalities, Multiple↗
PubMed1992

Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).

We report on a stillborn boy with frontonasal malformation (Sedano-Jiràsek type D-DeMyer type I), associated with encephalocoele, occipital meningocele and preaxial polydactyly of the feet. This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid, occipital encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. Most cases are sporadic.

Abnormalities, Multiple↗
PubMed1993

Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anomaly.

Experimental studies have demonstrated that the DiGeorge anomaly is due to cranial neural crest abnormalities. In the present study, the quantitation of thyrocalcitonin immunoreactive cells (C-cells) has been used to evaluate whether cells derived from the cranial neural crest are or are not present in normal proportions in patients with this anomaly. Thyroid sections from 11 such patients and 11 control patients were studied immunohistochemically at autopsy in order to determine the number and distribution of thyrocalcitonin-containing cells. Patients with DiGeorge anomaly showed thymic and parathyroid aplasia/hypoplasia and cardiovascular defects, such as type B interrupted aortic arch, truncus arteriosus and tetralogy of Fallot. Other associated defects were alobar holoprosencephaly and meningocele (previously unreported defects in this anomaly), arhinencephaly, renal cystic dysplasia, ureterohydronephrosis, esophageal atresia with tracheoesophageal fistula, and cleft lip and palate. The volume density of C-cells (1.187%) and the mean number of C-cells per follicle (1.42) was significantly lower in patients with DiGeorge anomaly than in control patients (3.475% and 2.367, respectively). These results indicate a decrease in cells derived from the neural crest in patients with DiGeorge anomaly, and support the hypothesis of a neural crest disturbance as the pathogenetic factor responsible for this anomaly.

Calcitonin↗
PubMed1993

Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

We report on a boy with several findings of the Meckel syndrome, such as hepatic fibrosis, polycystic kidneys, post-axial hexadactyly, and genital abnormalities, but a Dandy-Walker malformation rather an occipital meningocele. Progressive deterioration of renal function beginning at 37 months led to death at 43 months. Both Dandy-Walker malformation and survival to the fourth year are unusual findings in Meckel syndrome. This uncommon combination represents a further demonstration of the pleiotropy/heterogeneity of the cerebro-reno-digital syndromes.

Abnormalities, Multiple↗