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PubMed1992

Magnetic resonance imaging in occult spinal dysraphism.

A prospective study was carried out in 100 cases of suspected occult spinal dysraphic anomalies with Magnetic Resonance Imaging in order to determine its diagnostic efficacy as the initial imaging modality. MR imaging provided accurate preoperative information in 91 out of 92 cases (98.9%). Some of the unusual and interesting findings in the series were: presence of intrinsic cord abnormality in 19 out of 21 cases (90.4%) with a normal plain radiograph, 4 cases of diastematomyelia with a dermoid in the dorsal and lumbar region associated with syringohydromyelia, intradural fibrous/glial bands, syringohydromyelia/myelomalacia of the conus with tethered cord syndrome having a normally placed conus, and myelocystocele. It is concluded that MRI is an excellent primary diagnostic tool, together with a plain radiograph, for complete preoperative evaluation of mid-line spinal anomalies.

Adolescent↗
PubMed1986

Os calcis osteotomy in the management of deformities of the hindfoot in spinal dysraphism.

The results of 52 primary os calcis osteotomies in 44 patients with spinal dysraphism are reviewed. There were 42 varus hindfoot deformities and ten valgus hindfoot deformities. The results indicate that the operation is simple and uncomplicated, but over a mean 5.8 year follow-up for the varus feet and 6.5 years for the valgus feet, over 50% of the feet developed either a moderate or severe recurrence of deformity. Os calcis osteotomy appeared from this series to be a moderately successful interim operation for the equinus varus foot, delaying the need for premature triple arthrodesis, but the long-term results in cavo-varus feet with claw toes were uniformly poor. Furthermore, it appeared to be unsatisfactory in the mobile flail valgus foot unless the subtalar joint had been stabilised by fusion. Correction of proximal joint or bone deformity and muscle imbalance is considered necessary if satisfactory results are to be achieved from the osteotomy.

Adolescent↗
PubMed1991

Occult spinal dysraphism in children: need for early neurosurgical referral.

The natural history of occult spinal dysraphism in children is one of progressive and unpredictable neurological deficit. The modern role of neurosurgery is in the prevention of deterioration rather than correction of established disability. A prospective study was carried out on 40 consecutive patients to analyse the referral pattern of children with this condition. The age, reason for referral, clinical history and source of referral was recorded in each case. The reason for referral varied with age. Of the 40 patients studied, only 12 were found to be without neurological deficit at the time of referral. The incidence of progressive neurological deterioration increased with increasing age. The referral source in different age groups varied, but in all age groups relatively few were referred by the general paediatricians or paediatric neurologists. For optimum surgical results, early referral and treatment is desirable and should become our objective.

Adolescent↗
PubMed1979

Computed tomography and spinal dysraphism: clinical and phantom studies.

Two cases illustrating the value of CT in the assessment of spinal dysraphic tissue are presented. In one case, the configuration and origins of two osseous diastematomyelic spurs were shown well; in the second case, the CT recognition of a sacral lipoma led to air myelographic confirmation of the tumor and tethered cord. CT phantom studies indicated that dysraphic tissues, such as fat, cartilage, and fibrous tissue, are better identified and quantitated in the spinal canal when surrounded by air. Varying degrees of image degradation occur with water (simulating CSF) or metrizamide.

Adult↗
PubMed1991

Spinal dysraphism. A study of patients over the age of 10 years.

Thirty patients over the age of 10 years, exhibiting cutaneous manifestations on the back suspected to be due to spinal dysraphism, and neurologic deficits, were studied to analyze neurologic appearance. Neurologic deficits appeared by age 5 in 26 patients. No patient complained of low-back pain or sciatica. Paralytic deformities of the lower extremities were divided into four grades for evaluation: A = no deformity, with only urinary disturbance (four cases); B = toe-limited deformity (two cases); C = toe and foot-limited deformity (six cases); D = toe, foot, ankle, and lower limb deformity (18 cases). Patients with slight neurologic disturbance, either Grade A or without urinary disturbance, were seen among the patients who had undergone a release operation by age 2, although neurologic appearance in patients in severe grades was not related to the age at release operation. Also, the release operation was thought to be effective in preventing low-back pain or sciatica.

Adolescent↗
PubMed1996

Long-term urological follow-up of occult spinal dysraphism in children.

From 1980 to 1996 we followed up 65 children with occult spinal dysraphism (OSD) out of 85 observed in our urodynamic laboratory. The average age at diagnosis was 4.7 years (range: 1-21 years). In 19 cases (22%) the OSD was associated with anorectal anomalies (ARA). Urinary incontinence or voiding anomalies with urinary tract infection were the presenting symptom in 34 children (49%). At diagnosis all children underwent complete neuro-urological and urodynamic evaluation. Thirty-eight patients underwent neurosurgical correction. Vesicoureteral reflux (VUR) was present or developed in 17 patients: 15 underwent endoscopic procedures and 2 required surgery; 2 needed bladder augmentation because of upper tract and renal function deterioration. Urinary incontinence was treated mainly by intermittent catheterization and anticholinergic drugs, but endoscopic treatment was performed in 3 children. At long-term follow-up (2 to 14 years), socially acceptable continence was achieved in 78% of 57 children (8 could not be assessed because they were less than 4 years old). Upper urinary tract deterioration occurred in 15% and renal failure in 7.5%.

Adolescent↗
PubMed1988

Magnetic resonance imaging of spinal dysraphism.

MR imaging has become the definitive diagnostic procedure for the evaluation of suspected spinal dysrhaphic processes. Techniques for spinal MR imaging are discussed and MR findings in patients with surgically verified dysrhaphic spinal lesions are reviewed.

Child↗
PubMed1995

Spinal dysraphism detected by magnetic resonance imaging in patients with anorectal anomalies: incidence and clinical significance.

Though the concept of caudal regression, suggested in 1961 by Duhamel, could explain the association between anorectal anomalies (ARA) and spinal dysraphism (SD), its real incidence may be underestimated and its clinical significance is debatable. From 1988 to 1993, 111 patients with ARA were treated at the authors' institution. Associated anomalies were present in 36% of cases, with the exception of vesicoureteral reflux, which was considered functional rather than anatomical. In view of the late (1 to 2 years after surgical treatment) onset of vesical dysfunction and/or orthopaedic symptoms in some of these patients, a screening protocol was started in 1991, using magnetic resonance imaging (MRI) in all patients with ARA. Fifty patients, 29 boys and 21 girls, underwent a spinal cord MRI, with pathological findings in 25 cases (50%), 13 boys and 12 girls. The authors did not find any significant difference in incidence with respect to high, low, or cloacal malformations. A thickened filum, with or without fibrolipoma, was the most frequent finding, but even tethered cord, syringomyelia, and sac morphological alterations were present. MRI was also able to detect osteoarticular and/or muscular anomalies. Even when a urodynamic study and a neurological and orthopaedic workup were performed in 20 patients undergoing MRI, the clinical significance of these findings remained unclear. However, accurate follow-up of these patients is mandatory in order to detect early neurological symptoms, because currently it is not advisable to refer for neurosurgery all the patients with ARA presenting with anomalies of the spinal cord.

Abnormalities, Multiple↗
PubMedDate not supplied

The value of MRI in a patient with occult spinal dysraphism.

We describe an infant girl who was referred to us because of a lumbosacral swelling. She was also found to have two nonblanching, erythematous macules, one at the cervical level and one at the lumbosacral level. Occult spinal dysraphism was demonstrated by magnetic resonance imaging.

Diagnosis, Differential↗
PubMed2006

Midline cutaneous lumbosacral lesions: not always a sign of occult spinal dysraphism.

OBJECTIVE: The authors report two unusual cases of extraspinal midline lumbosacral lesions that resembled the usual skin markers of occult spina bifida. PATIENTS AND METHODS: The pathological diagnosis of the masses was plexiform neurofibroma and mastocytoma, respectively. RESULTS: Some lesions, as those we are reporting, although occurring at the lumbosacral midline, do not necessarily belong to occult spinal dysraphism, as was initially suspected. Plexiform neurofibroma and skin mastocytoma are very rare indeed in this spinal location. CONCLUSION: The two cases represent an important addition to the differential diagnosis of a congenital dorsal midline mass.

Child↗
PubMed1997

Surgical treatment supposed natural history of the tethered cord with occult spinal dysraphism.

We retrospectively evaluated the pre- and postoperative course of 34 tethered cord patients with occult spinal dysraphism in an attempt to infer the natural history of this disorder and to determine the effectiveness of the surgical treatment. There were 32 cases with lumbosacral lipoma and 2 with tight filum terminale. The age at surgery ranged from 1 month to 47 years old. Eight patients, aged 1 month to 4 years old, were asymptomatic; 26 had neurogenic bladder (26 cases) or motor problems affecting the legs (8 cases). None of the patients older than 5 years of age were asymptomatic. Untethering of the spinal cord was performed in all cases. The postoperative follow-up period ranged from 5 months to 11 years. During these periods, 7 (88%) of the 8 asymptomatic patients remained neurologically intact, 6 (23%) of the 26 symptomatic patients showed improved symptoms, and 15 patients (58%) remained unchanged. These results indicate that the neurological symptoms will appear progressively in the tethered cord patients, and that prophylactic surgery should be considered as early as possible.

Adolescent↗
PubMed2004

Lumbosacral ectopic nephrogenic rest unassociated with spinal dysraphism.

Nephrogenic rests (NRs) are thought to originate from persistent nephrogenic blastema and are considered precursor lesions of Wilms' tumor (WT). These rests usually occur as perilobar and intralobar lesions in the kidney and, rarely, in ectopic sites. We report a midline lumbosacral ectopic NR in a healthy full-term newborn male with no family history of WT or WT-associated syndromes. The NR presented as a soft polypoid mass covered by normal skin. An MRI study revealed no lumbosacral spine abnormalities and no communication with the vertebral canal. The resected mass measured 3 cm and contained fat and had a central 1.2-cm solid nodule. The nodule was composed of blastema, epithelial elements (mature tubules and nephrons), and abundant stroma. No other somatic tissue elements were identified after complete microscopic examination. There are 4 cases of NRs reported in the lumbosacral area associated with spinal dysraphism, and only 2 cases, in addition to our report, unassociated with spinal abnormalities. The pathogenesis of heterotopic immature nephrogenic tissue remains a source of conjecture and speculation. If these lesions are heterotopic rests, their potential for neoplastic progression is probably quite limited, but if a monodermal teratoma, then more scrupulous clinical follow-up is warranted.

Choristoma↗
PubMed2005

Lumbo-costo-vertebral syndrome with posterior spinal dysraphism.

Lumbo-costo-vertebral syndrome, which includes abnormalities of the vertebral bodies, ribs and trunk musculature, is very rare and only few cases have been reported. We report a case of 18-month-old female child with absent ribs, hemivertebrae, superior lumbar hernia (features of lumbo-costo-vertebral syndrome) and posterior spinal dysraphism, which to our knowledge is the first case in the English literature with such a combination of defects. Embryology and management of the case is discussed.

Female↗
PubMed1996

Intradermal dermoid cyst associated with occult spinal dysraphism.

A 2-year-old boy with congenital lumbosacral skin lesions is described. He presented with associated occult spina bifida and a sagittal cleft of the vertebral body deep in the skin lesions. The skin lesions presented as a combination of a lipoma, telangiectasia, mild hypertrichosis, and a dermoid cyst. Magnetic resonance imaging (MRI) revealed that the lipoma extended to the spina bifida region, but that it did not connect to the dura. MRI also demonstrated no other spinal lesions requiring surgical treatment. The intradermal location of the dermoid cyst observed in our patient was unusual. We discuss the location of dermoid cysts in the lumbosacral region associated with spinal dysraphism.

Dermoid Cyst↗
PubMedDate not supplied

An unusual cutaneous lesion as the presenting sign of spinal dysraphism in a preterm infant.

We present a preterm female infant with an unusual vascular nevus on the lumbosacral and gluteal regions. Our clinical diagnosis was probable twin nevus, with a blanched nevus adjacent to a telangiectatic nevus, later complicated by ulceration. Ultrasonography and magnetic resonance imaging of the lumbosacral region revealed that her conus medullaris level was at L4 and the spinal cord was tethered by an intraspinal lipoma, without evidence of a hemangioma. We could not find any literature reporting the association of twin nevus with spinal dysraphism.

Female↗
PubMed2005

The value of ultrasonic examination of the lumbar spine in infants with specific reference to cutaneous markers of occult spinal dysraphism.

AIM: To present part of the rationale behind the recent update to the M12 guideline in The Royal College of Radiologists' publication "Making the best use of a department of clinical radiology", 4th edition 1998, which stated that ultrasound was useful in screening for dysraphism in infants with cutaneous markers such as sacral dimple or hairy patch. MATERIALS AND METHODS: Over a 10-year period a total of 223 infant lumbar spines were scanned, for various clinical indications. Forty of these patients had already had abnormalities detected antenatally by foetal ultrasonography. One hundred and eight-three patients had abnormalities detected on postnatal clinical examination; most of these had various cutaneous markers, some had other congenital abnormalities. RESULTS: There were a total of 29 patients with dysraphism; 24 were detected antenatally and five postnatally. Of the five, two had two or more cutaneous markers and three had anorectal anomalies. All 86 of the patients with simple sacral dimples, pits or sinuses were normal. CONCLUSION: As an isolated abnormality, simple dimples or pits are not useful markers of spinal dysraphism. The authors suggest a new imaging protocol, resulting in improved diagnostic efficiency.

Female↗
PubMed2001

Spinal neurenteric cysts and their relation to more common aspects of occult spinal dysraphism.

OBJECT: Neurenteric cysts are infrequently reported congenital abnormalities believed to be derived from an abnormal connection between the primitive endoderm and ectoderm. The authors report a series of 13 patients treated over a 50-year period. METHODS: Of the 13 patients, seven were female and six were male. Their ages at presentation ranged widely from 5 weeks to 52 years of age. Children presented more commonly with cutaneous stigmata of occult spinal dysraphism (OSD) whereas adults presented primarily with pain. Neurological deficit as a presenting symptom was less common in our series, a finding that reflects the slow growth of these lesions. In all but one patient some form of vertebral anomaly was associated with the cystic lesions, including two patients with Klippel-Feil abnormalities. There was a high incidence of associated forms of OSD including split cord malformation, lipoma, dermal sinus tract, and tethered spinal cord. In previous reports the authors have suggested that neurenteric cysts are more common in the cervical region and in a position ventral to the cord. In the present series these cysts most commonly occurred as intradural, extramedullary masses in the thoracolumbar region, situated dorsal to the spinal cord. The median follow-up period was 7.5 years, and postoperative outcome reflected a patient's preoperative neurological status; in no patient was outcome worsened due to surgery. CONCLUSIONS: Complete excision of the neurenteric cyst remains the treatment of choice, as subtotal excision is associated with recurrence.

Adolescent↗