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PubMed1975

Ultrasound in the diagnosis of spina bifida.

Three patients who were at risk of having a baby with a neural-tube defect were investigated by ultrasonic examination and alpha-fetoprotein (A;F.P.) estimation. In all three cases amniotic-fluid A.F.P. levels were significantly raised and pregnancy was terminated. In the first case ultrasound failed to detect a small lumbo-sacral meningocele; In the second case ultrasound successfully diagnosed a dorso-lumbar meningo-myelocele but did not recognise internal hydrocephalus. In the third case ultrasound did not define any lesion, and pathological examination of the fetus revealed no abnormality. It is concluded that ultrasonic examination is an important diagnostic technique in the antneatal investigation of spina bifida.

Abortion, Therapeutic↗
PubMed1999

Importance of dural ectasia in phenotypic assessment of Marfan's syndrome.

BACKGROUND: Early identification of Marfan's syndrome is fundamental in the prevention of aortic dilatation, but the wide phenotypic expression of the disorder makes the clinical diagnosis very difficult. Dural ectasia has been classified as a major diagnostic criterion; however, its prevalence is not known. We aimed to identify the true prevalence of dural ectasia in Marfan's syndrome, and to investigate its relation to aortic pathology. METHODS: A magnetic-resonance-imaging (MRI) study of the thoracic aorta and of the lumbosacral spine was done in an inclusive series of 83 patients with Marfan's syndrome to assess the presence and degree of dural ectasia and aortic involvement; 12 patients were younger than 18 years. 100 individuals who underwent MRI of the lumbar spine for routine clinical indications represented the control group; none of them had any potential causes for dural ectasia. FINDINGS: Dural ectasia was identified in 76 (92%) patients and none of the control group. The severity of dural ectasia was related to age; the mean (SD) age of patients with mild dural ectasia was 26 years (14) whereas that of those with severe disease (meningocele) was 36 years (9) (p=0.038). 11 of 12 patients younger than 18 years had dural ectasia. No association was found between aortic dilatation and dural ectasia. INTERPRETATION: Dural ectasia is a highly characteristic sign of Marfan's syndrome, even at an early age.

Adolescent↗
PubMed2004

Spinal dysraphism: MR imaging rationale.

Spinal cord development occurs through the three consecutive periods of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal cord malformations derive from defects in these early embryonic stages, and are collectively called spinal dysraphisms. Spinal dysraphisms may be categorized clinically into open and closed, based on whether the abnormal nervous tissue is exposed to the environment or covered by skin. Open spinal dysraphisms include myelomeningocele and other rare abnormalities such as myelocele, hemimyelomeningocele, and hemimyelocele, and are always associated with a Chiari II malformation. Closed spinal dysraphisms are further divided into two subsets based on whether a subcutaneous mass is present in the low back. Closed spinal dysraphisms with mass comprise lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise simple dysraphic states (tight filum terminale, filar and intradural lipomas, persistent terminal ventricle, and dermal sinuses) and complex dysraphic states. The latter category involves abnormal notochordal development, either in the form of failed midline integration (ranging from complete dorsal enteric fistula to neurenteric cysts and diastematomyelia) or of segmental agenesis (caudal agenesis and spinal segmental dysgenesis). Magnetic resonance imaging is the imaging modality of choice for evaluation of this complex group of disorders.

Adolescent↗
PubMed2005

[Imaging features of neurofibromatosis type 1].

Neurofibromatosis type 1 (NF1) is the most common of all the phakomatoses. It is an autosomal dominant disorder, with about 50% of patients being new mutations. NF1 is diagnosed based on the presence of well established diagnostic criteria. Prominent cutaneous manifestations include cafe-au-lait spots, freckling and cutaneous neurofibromas. CNS lesions are frequent and imaging is valuable for diagnosis, treatment and follow-up of patients. Tumors of the central nervous system are frequent. Optic nerve glioma usually affects younger patients with clinical symptoms in one third of cases. MRI shows fusiform enlargement with variable enhancement of the optic nerve. These tumors are usually non-aggressive with good prognosis. Other gliomas and astrocytomas can occur as well, usually midline in location, that also generally have good prognosis. Non-tumoral white matter lesions, referred as unidentified bright objects or UBO's, are frequently observed, typically in the basal ganglia and posterior fossa structures. These lesions are usually seen during childhood and they typically diminish with age. The distinction between UBO's and other tumors may be difficult to achieve at imaging, and a malignant evolution may very rarely be observed. Patients with NF1 may have hydrocephalus and dural sac anomalies leading to meningocele formation. Neurofibromas and plexiform neurofibromas involve peripheral nerves and nerve sheaths. Plexiform neurofibromas may cause radicular symptoms. They more frequently involve the lumbosacral plexus. Neurofibromas are homogeneous oval shaped tumors that may extend into the spinal canal. Neurofibrosarcoma is the main cause of death of NF1 patients less than 40 years of age. It may develop de novo or from sarcomatous degeneration of a pre-existing plexiform neurofibroma. It should be suspected in patients with new onset of symptoms or patients with changing symptoms. At imaging, it is characterized by a large heterogeneous tumor invading adjacent structures. Osseous lesions have been described including progressive thoracic scoliosis, vertebral anomalies (posterior scalloping is very suggestive), long bones anomalies with frequent bowing of the tibia, sometimes resulting in pseudarthrosis, and rib anomalies with ribbon ribs. Vascular lesions may occur resulting in arterial hypertension and aneurysm formation.

Bone Neoplasms↗
PubMed1984

Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation.

The Waardenburg's syndrome, a congenital ectodermal germ layer defect of autosomal dominant inheritance with variable phenotypic expressivity consists of 6 major characteristics: dystopia canthorum, broad nasal root, hypoplasia of the medial eyebrow, heterochromia irides, white forelock, and congenital deafness. Twelve additional characteristics have been reported including meningocele, atresia of the esophagus, and Hirshsprung's disease supporting an early hypothesis that the neural crest is the embryonic site linking defects of the cervical sympathic system with pigmentary abnormalities and inner ear anomalies. Congenital deafness reported in 20% of Waardenburg patients, and the most disabling characteristic, has been associated with ENG abnormalities in 30% of these deaf patients. A congenitally deaf young person with Waardenburg's syndrome is examined for basic cause of episodic vertiginous symptoms. Diagnostic assistance from previous investigations is lacking because they have not involved state-of-the-art functional evaluations or correlations of behavioral and radiographic findings. In this patient, high-resolution computerized tomography failed to demonstrate bony labyrinthine anomalies. Functional cochleovestibular analysis revealed a bilateral profound sensorineural hearing loss and a unilateral weakness in oculomotor responses to caloric stimulations. Repeated measurements of ocular counterroll show variations compatible with intermittent otolithic dysfunctioning. These findings are consistent with a diagnosis of an acquired active unilateral peripheral vestibular disorder. Some of the technical issues underlying the derivation of this conclusion are discussed.

Abnormalities, Multiple↗
PubMed1991

MR imaging of birth brachial palsy in a two-month-old infant.

A female baby at two months old was diagnosed as having birth branchial palsy and was studied by magnetic resonance imaging (MRI) which is a non-invasive and safe method for assessing any brachial plexus injury in the infant. A traumatic meningocele involving a root avulsion injury was clearly demonstrated by the MRI findings.

Birth Injuries↗
PubMed2000

Imaging the brachial plexus and peripheral nerves in infants and children.

Imaging of the brachial plexus and peripheral nerves is challenging in the pediatric patient. Magnetic resonance imaging is the modality of choice as it is not invasive and demonstrates proximal and distal lesions. This may be used to detect nerve root avulsions, nerve ruptures, pseudo-meningoceles, brachial plexus scarring, post-traumatic neuromas, brachial plexus edema, spinal cord damage, abnormalities of the shoulder joint, trauma, neoplasms, and infection. Imaging allows diagnosis and careful preoperative evaluation of children suffering from brachial plexus injuries and peripheral nerve disorders.

Brachial Plexus↗
PubMed2001

Tethering of the vertebral artery in the congenital arcuate foramen of the atlas vertebra: a possible cause of vertebral artery dissection in children.

Twelve children with vertebrobasilar artery stroke are reported (seven males, five females; aged 6 months to 15 years). Patient 1 showed an arcuate foramen in the posterior arch of the atlas, an anatomical variant occurring in 3 to 15% of the population. It was hypothesized that the presence of the arcuate foramen might cause tethering of the vertebral artery and lead to its dissection by repetitive trauma. Lateral plain films of the cervical spine in cases of posterior circulation stroke were taken. Eight of 11 patients showed aberrant arcuate foramina. Of the remaining three patients, one had normal cervical spine X-rays, one had an absent right posterior arch of the atlas following previous surgery for a cervical meningocele, and one patient had incomplete ossification of the vertebrae. Seven of the nine patients with arcuate foramina had vertebral angiograms. In all cases this showed the vertebral artery passing through the arcuate foramen before entering the brain and an appearance consistent with arterial dissection and occlusion at the same site below the foramen. Most documented cases of posterior circulation stroke in children follow trauma, which may be minimal or repetitive, with thrombotic occlusion of the artery at C1-C2 level. The association with an arcuate foramen and its possible causative role in the genesis of posterior circulation stroke in children has not been previously recognized. There may be a causal association between the presence of an arcuate foramen, tethering of the vertebral artery in the foramen, and dissection from repetitive trauma with movement of the neck.

Adolescent↗
PubMed2002

Cervical cord tethering due to split cord malformation at the cervico-dorsal junction presenting with self-mutilation of the fingers.

An unusual case of cervical spinal cord tethering with diplomyelia is described. A 12-month old female presented with self-mutilation of the fingers due to sensory loss in the hands, absent reflexes, poor muscle tone, and reduced distal upper-limb movements. There was a deep skin dimple overlying the T1 spinous process. Imaging showed angulation of the lower cervical cord and an operation revealed a low cervical meningocele and a split cord malformation with tethering of one half of the cord; the cord was untethered. In this report the literature is reviewed.

Female↗
PubMed1990

Post-traumatic syringomyelia, an update.

Post-traumatic and post-arachnoiditic syringomyelia is described in 31 patients from the Midland Centre for Neurosurgery and Neurology (MCNN). It is suggested that the mechanisms may be similar in the two groups and that treatment is best directed to disabling the likely filling mechanisms by opening up the cerebrospinal fluid (CSF) pathways and deliberately leaving the dura open to create an artificial meningocele. It is suggested that drainage on its own is inappropriate but that when drainage of the syrinx is chosen as an ancillary technique then syringopleural drainage may be the procedure of choice.

Adolescent↗
PubMed2001

Prenatal diagnosis of a fetus with lumbar myelocystocele.

We present a case of a fetal lumbar myelocystocele, a rare congenital malformation, characterized by herniation of the central canal through a bony spina bifida. Routine ultrasound examination at 11 weeks' gestation by the primary obstetrician showed a suspicious cyst on the fetal back. Initially, the suspected diagnosis was a meningocele. After sonographic detection of newly developed fetal brain anomalies at 22 weeks' gestation the patient was referred to us. The enlarged cyst, which floated freely in the amniotic fluid, had a funnel-like appearance and was covered by a very thin layer of skin. With the help of ultrafast fetal magnetic resonance imaging the diagnosis of a fetal myelocystocele was made.

Adult↗
PubMed2001

Neurofibroma of the bladder wall in von Recklinghausen's disease.

Neurofibromatosis, or von Recklinghausen's disease, is an autosomal dominant disease with multiple neurofibroma and café-au-lait spots. However, neurofibroma in the bladder wall is a rare condition in von Recklinghausen's disease. A 31-year-old man with neurogenic voiding dysfunction due to sacral meningocele and acute urinary retention with neurofibroma of the bladder wall is presented with detailed radiologic evaluation. Patients with von Recklinghausen's disease should be carefully evaluated if urological symptoms exist.

Adult↗
PubMed1994

Magnetic resonance imaging in pregnancy: study of fetal cerebral malformations.

This paper reports 15 examinations by magnetic resonance imaging (MRI) performed in pregnant women whose fetuses had cerebral malformations identified by sonography. In all the cases the fetuses were immobilized by ultrasound-guided intravenous or intramuscular curarization. The diagnoses by MRI and ultrasound differed only in one case where an occipital meningocele had first been suggested. No cerebral abnormalities were demonstrated in this case by the MRI study, and this was confirmed at birth. In the remaining 14 cases, MRI confirmed the ultrasound diagnosis of cerebral malformation. In four of these cases, MRI added some additional information to the ultrasound diagnosis of ventriculomegaly by detecting agenesis of the corpus callosum in two fetuses, one Chiari malformation and one triventricular hydrocephalus. Another two ultrasound diagnoses of microcephaly actually proved to be semilobar holoprosencephaly with MRI. In the following cases, the MRI diagnoses concurred with those of ultrasound, and was therefore used unnecessarily despite providing further anatomical details of the lesions: two cases of agenesis of the corpus callosum, one case of anencephaly, a cystic hygroma of the neck, an alobar holoprosencephaly, a Dandy-Walker malformation and a mild isolated hydrocephalus associated with diaphragmatic hernia. In one case of iniencephaly, sonography offered closer approximation to the correct diagnosis. The results obtained unequivocally confirm the high sensitivity of ultrasound examinations in the prenatal screening of cerebral malformations and show that MRI proves to be complementary in uncertain cases or when more accurate anatomical detail is required.

Journal Article↗
PubMed2002

MRI of the post-discectomy lumbar spine.

Laminectomy and discectomy are common procedures in the management of symptomatic lumbar disc herniation. Complications of such surgery include recurrent/residual disc herniation, epidural scar formation, discitis, arachnoiditis and pseudo-meningocele. Gadolinium-enhanced MRI is the technique of choice for investigating recurrent symptoms following discectomy. This article reviews the normal early and late post-laminectomy MR appearances, as well as the pathological findings associated with the above-mentioned complications.

Contrast Media↗
PubMed2000

Currarino triad--diagnostic dilemma and a combined surgical approach.

PURPOSE: The authors present 2 families with 3 cases of Currarino triad, diagnostic difficulties, their familial occurrence, and genetic mapping, with emphasis on a combined pediatric surgical and pediatric neurosurgical approach in managing these children. RESULTS: The main presentation was intractable constipation. In the first family there was a 4-generation pedigree with recurrence of Currarino triad. The mother and the child have the condition. Family 2 screening showed a 3-generation pedigree with presence of Currarino triad in 3 members. Patients 2 and 3 are cousins whose fathers are affected by spina bifida occulta and Currarino triad, respectively. In patient 1, the diagnosis was made after inadvertent rupture of an anterior meningocele during posterior myectomy. In patient 2, the presacral mass was found on examination under anesthesia, and the planned anorectal myectomy for intractable constipation was abandoned. Patient 3 was a cousin of patient 2, and the diagnosis was considered when she presented with intractable constipation at the age of 7 months. Magnetic resonance scan was useful in showing the presence of presacral mass, spinal abnormalities, and tethered cord. A combined pediatric and neurosurgical approach optimized the extirpation of the presacral mass with minimal complications. Surgical treatment was individualized according to the estimation of the operative risk factors. All patients have a normal bladder function. Patient 1 has required laxatives and enemas for intermittent constipation. She has associated learning difficulties but is otherwise well. Patient 2 and 3, aged 10 and 2 years, respectively, are awaiting closure of colostomy. They are thriving and well. CONCLUSIONS: The authors recommend a combined pediatric and neurosurgical assessment and management for all cases of Currarino triad. Family screening is obligatory. The authors suggest the use of a magnetic resonance scan or computerized axial tomography myelogram to define the presence of anosacral and spinal cord anomalies in patients with intractable constipation.

Anal Canal↗
PubMed1999

The role of magnetic resonance imaging in the management of traction injuries to the adult brachial plexus.

Magnetic resonance imaging (MRI) of the cervical spine and brachial plexus was performed on 26 consecutive patients presenting with traction injuries of the brachial plexus during 1996 and 1997. These included T1 and T2 weighted coronal, sagittal and axial images of the cervical spine and coronal images of the brachial plexus. The results were compared with surgical findings, intraoperative neurophysiology, and subsequent clinical progress. Operations for exploration and repair have been performed in 23 and 26 patients scanned. Evidence of root avulsion was seen in 11 patients in the form of displacement or oedema of the spinal cord, haemorrhage or scarring within the spinal canal, absence of roots in the intervertebral foramena, and meningoceles. Characteristic abnormalities were evident in the MR scans of all cases where exploration confirmed some root avulsions. There were no false positives. MRI underestimated the number of individual roots avulsed; sensitivity was 81%. Post-ganglionic lesions were seen as swelling on T1 images associated with increasing signal on T2 images. It was usually possible to define the level of the injury within the plexus. This study suggests that MR imaging, performed early after traction injury to the brachial plexus, provides useful additional information towards establishing the level of the lesion. It also provides information about injury to the plexus outside the spinal canal.

Adult↗
PubMed1975

[Pantopaque-myelographic findings in brachial plexus root avulsion (author's transl)].

The myelograms of 7 patients with traction injury of the brachial plexus are compared with the operation findings. It appears that not only the roentgenological sign of the "traumatic meningocele" but also other myelographic abnormalities are to be considered as indications of a nerve root lesion. These changes are demonstrated. The myelogram of a 6-months-old child showing a nerve root avulsion due to birth trauma is represented. Myelographic examination of each patient with posttraumatic brachial palsy should be performed as soon as possible. A sufficient myelographic diagnosis of the nerve root lesion can be achieved only in considering also the less impressive radiological signs.

Accidents, Traffic↗
PubMed2002

Endoscopic endonasal transsphenoidal approach: outcome analysis of 100 consecutive procedures.

The endoscopic endonasal transsphenoidal approach has been proposed in the past decade as a minimally invasive surgical technique for the removal of pituitary tumors. From January 1997 to November 1999, 100 consecutive patients with pituitary tumors underwent endoscopic endonasal surgery, according to Jho's technique. We employed 0 degrees, 30 degrees, 45 degrees, and 70 degrees rigid endoscopes, 18 - 30 cm in length, 4 mm in diameter with an outer sleeve for irrigation and secured to a holder. Among the 87 pituitary adenomas, tumor removal was total in 51, subtotal (> 80 %) in 20 and partial in 16 cases. Four craniopharyngiomas were totally removed and an intra-suprasellar arachnoid cyst was emptied; a biopsy was performed in the two patients with a clivus chordoma. The two cases of sphenoid sinusitis were cured by surgery, the three patients with spontaneous CSF rhinorrhea were successfully treated and the residual nasal meningocele was removed. The endoscopic endonasal transsphenoidal approach appeared to be less traumatic than the traditional microsurgical approach, was very effective, and was characterized by a reduced number of complications. However, the relatively small series together with the short follow-up do not allow us to draw definitive conclusions. The post-operative reduction in hospital stay (two days in 40 of 100), significantly reduced the cost of patient's management.

Adenoma↗