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A case of a tail in a 9-month-old baby is reported. Computed tomography and magnetic resonance imaging clearly demonstrated the presence of spina bifida and lipoma continuous from the tail to the spinal canal. A few medical-historical aspects are discussed. The human tail may be related to spinal dysraphism and requires detailed neuroimaging investigation and microsurgery.
The authors present a brief literary review on the frequency and etiological factors of the opened spinal dysraphism. The importance of its echographic diagnosis is indicated by using indirect signs, mainly microcephaly, ventriculomegaly, cerebellar pathology ("a sign of the banana") and characteristic fronto-temporal configuration of the fetal encephalic cranium ("a sign of the lemon") up to 24 week's of gestation. Two cases of diagnosed spinal dysraphism during the second trimester of pregnancy with established indirect echographic signs, promoting active search for direct echographic image of this congenital defect of the neural tube, are described.
OBJECTIVE: To evaluate the effect of pregnancy on renal function, and the effect of congenital urinary tract abnormality and reconstruction on pregnancy and delivery. PATIENTS AND METHODS: The case notes were reviewed of 20 women (median age 32.5 years) who had had 29 live babies. Data collected included patient demographics, congenital urological abnormality, urological reconstructive procedure(s) and any subsequent urological complications. Pregnancy details, including urological and obstetric complications, presentation and mode of delivery, were obtained via a postal questionnaire from the relevant obstetrician. RESULTS: Seven patients had exstrophy-epispadias, seven spinal dysraphism, two sacral agenesis, and one each cerebral palsy, epispadias, imperforate anus and small bladder with vesico-ureteric reflux and congenital incontinence. They had had a mean (range) of 5.7 (1-12) urological reconstructive procedures each. Patients with exstrophy-epispadias had significantly more operations (mean 7.8) than those with spinal dysraphism (mean 4.14) or other diagnoses (mean 2.6) (P < 0.01). At the last follow-up 13 patients had an enterocystoplasty, six a neobladder and one an ileal conduit. Pregnancy-related urological complications were urinary tract infection in 15, upper tract obstruction requiring nephrostomy and stent in three, Mitrofanoff difficulties in two and pyelonephritis in one. There was no significant deterioration in glomerular filtration rate or serum creatinine after pregnancy. Only 10 of the births were normal or assisted vaginal deliveries. Seven patients had emergency and 12 had elective Caesarean sections for obstetric indications, including four breech births in the seven patients with vesical exstrophy. CONCLUSIONS: Pregnancy has no long-term effect on renal function and does not compromise reconstruction. Although there is a substantial complication rate and an increased need for Caesarean section, pregnancy in women with lower urinary tract reconstruction for congenital urological abnormalities is ultimately safe for both mother and baby. Interdisciplinary co-operation is desirable for a successful outcome.
Cerebellar hypoplasia may present with a wide variety of neurological and systemic features, ranging from aplasia causing neonatal death to mild hypoplasia in an asymptomatic adult. MRI clearly documents the size of the cerebellum and any associated abnormalities. We describe 7 cases of cerebellar hypoplasia of varying aetiology--3 inherited, 2 associated with spinal dysraphism, 1 with Joubert's syndrome and 1 with pontine agenesis, probably as a result of basilar artery infarction in utero. T1- and T2-weighted images were obtained in each case and gadolinium-DTPA was administered in one. Associated features such as a Chiari malformation (2 cases), brain stem hypoplasia (2 cases), Dandy-Walker cyst and pachygyria (3 cases) and spinal dysraphism (2 cases) were clearly identified. Accurate documentation of these appearances assists in genetic counselling.
An eight-month-old infant with diastematomyelia, as a very rare variety of spinal dysraphism is presented in this article. The introduction deals with a detailed description of diastematomyelia, its development, local, neurological, and orthopedic signs in affected patients, diagnostic procedures and significance of neurosurgical treatment in patients with diastematomyelia. In the particular child, immediately upon birth, a thornlike bulging was noticed in the L2-L3 region. Neurological deficit, established at the time of surgery, was due to the perinatal brain damage and corresponded to the spastic syndrome of the central origin with the right-hand side predomination, and there was no predomination in the lower extremities, which could be expected in regard to the spinal dysraphism. Plain X-ray film revealed a thornlike bulging at the L2-L3 level. Lumbar myelography showed a distinctly enlarged dural sac at the level of L2 to S1 with a well pronounced contrast medium passage defect at the L3 level. The spinal canal CT-findings revealed a bony bulging between L1 and L2, starting from the posterior arches towards the spinal canal. Besides a markedly broadened lumbar spinal canal, MR-findings also showed a well pronounced bony septum from the L2 posterior edge, and a low-lying conus medullaris with an accompanying spinal lipoma. By the neurosurgical operation bony septum and extradural lipoma were radically removed, and the spinal cord was set free from adhesions. In that way a later onset of neurological signs, due to the "tethered cord syndrome", was prevented. Six months following surgery the child's condition was still unchanged.
AIM: Tethered cord syndrome (TCS) is a stretch-induced disorder of the spinal cord. Tethering is due to an inelastic structure anchoring the caudal end of the spinal cord as a short and thick filum terminale. Spinal dysraphism is occasionally associated,but the etiological relationship between these disorders remain unclear. Other anomalies may be concurrently found as hydromielia and Arnold-Chiari malformation. METHODS: The authors analysed neuroradiological findings in 5 children and 9 patients of 20-24 years of age; there were four male and ten female. The criteria for inclusion were neurological disturbances (disorders!) localizable to the level of the conus and evidence for spinal dysraphism. The purpose of this study was to make the precise diagnosis and make also precise planning for therapy, conservative or surgical treatment. RESULTS: The age of diagnosis of TCS varies from under 1 year to 14 years and is very rarely as late as adulthood. TCS can present late and insidiously with progressive gait disturbances, atrophy of various muscle groups or the entire limb, loss of reflexes,loss of sensation in the sacral dermatomes, sphincter disturbances, gait abnormality and pain in the gluteal, perianal and other pelvic areas. The diagnosis involves standard X-RAY examination, CT and CT-Mielography but MRI is now a diagnostic method of choice. Surgical untethering of the cord is recommended. The associated pain responds best to surgical treatment; ambulation and bladder function may improve as well. CONCLUSIONS: However sphincter dysfunction often remains a permanent problem. Given the potential for rapid deterioration with incomplete neurological recovery, even prophilactic surgery seems advisable. The patient need to be followed up, if not operated upon.
OBJECT: Lipomas of the spinal cord are often a component of spinal dysraphic states. Nondysraphic intramedullary spinal cord lipomas are rare, and their presentation, in the form of gradually worsening myelopathy, is nonspecific. The authors report on the methods used for diagnosis and treatment in patients presenting with these lesions at their institution, and they review the relevant literature. METHODS: The authors treated 14 patients who presented with intramedullary lipomas over a period of 12 years. None of these patients had segmentation anomaly or dysraphism of the spine, or any hindbrain anomaly. Admission magnetic resonance images were diagnostic in all patients. All tumors were located dorsally in the spinal cord, the majority of them in the cervicodorsal cord. The lipomas were partially excised with the help of a carbon dioxide laser in all patients in an attempt to preserve neurological function. All patients attained improvement in their sensory and motor symptoms. CONCLUSIONS: Because these lesions do not have a clear-cut margin, it is vital to preserve neurological function at the time of surgery, even if it entails incomplete resection.
We report a case of a neonate with complex spinal dysraphism and associated anomalies of the axial skeleton. Based on the clinical presentation and radiographic findings, and recent advances in the understanding of human embryogenesis, we formulate a hypothesis that such a presentation is the result of failure of normal gastrulation. A 1-day-old male neonate presented with multiple right-sided anomalies, including hypoplastic right face and decreased movement of the right upper extremity. Radiographic studies demonstrated absent right cervical hemivertebrae, right cervical lipomyelomeningocele, and cervical diplomyelia with right hemicord terminating in a blind pouch. Anterior and posterior cervical and thoracic fusion with instrumentation was performed at the age of 3 years, and on follow-up the patient had improvement in right upper extremity strength. Complex spinal dysraphism is a pathological process that occurs during different stages in human development. We describe a case involving a rare lateral lipomyelomeningocele in the cervical-thoracic area.
PURPOSE: We hypothesized that warm infusion solution should be used for urodynamic studies in children because it more closely simulates normal physiology. Thus, we conducted a prospective randomized study comparing consecutive room temperature (RT) and body temperature (BT) cystometrograms (CMG) in the same child. MATERIALS AND METHODS: Subjects underwent identical CMGs using RT and BT saline in random order. Maximum cystometric bladder capacity (CBC), pressure at CBC, uninhibited detrusor contractions, detrusor leak point pressure, maximum flow rate, pressure at maximum flow, maximum voiding pressure, residual urine and pressure specific volumes below 20 and 30 cm water were compared. Data were analyzed using ANOVA, t test, and chi-square. RESULTS: RT and BT CMGs in 44 males and 47 females with a mean age of 8.6 years were compared. Of the children 58 (64%) had spinal dysraphism, 8 (9%) had cerebral palsy, 5 (6%) had posterior urethral valves and 20 (21%) had recurrent urinary tract infection, daytime incontinence or frequency/urgency symptoms. Maximum CBC, pressure at CBC, and pressure specific volumes below 20 and 30 cm water were significantly lower (10% to 15%) during BT cystometry. Maximum flow rate was higher with BT saline. Detrusor leak point pressure, pressure at maximum flow, maximum voiding pressure, and residual urine did not differ. Uninhibited detrusor contractions were more frequent during RT infusions. No gender differences were found. The discrepancies between RT and BT cystometry were most prominent in infants, children with spinal dysraphism and children with large bladders. CONCLUSIONS: There is a difference between cystometries performed using RT and BT saline. Capacity, storage variables and detrusor activity are diminished during BT cystometry. Although statistically significant differences were found between consecutive RT and BT CMGs, the magnitude of the difference may not be clinically relevant to change management. As such, we do not believe it is necessary to use warm infusion solution on a systematic basis for urodynamic studies in children. However, for children younger than 2 years when the magnitude was more relevant, the use of warm solution is recommended.
OBJECTIVE: To evaluate 10 years of experience, and thus define the occurrence and causes, of neurogenic lower urinary tract dysfunction in children with pelvic neoplasms treated by surgery. PATIENTS AND METHODS: From 1991 to 2000, 33 children were operated by the same surgeons for pelvic neoplasms; 11 were analysed, comprising four each with sacrococcygeal teratoma (ST) and ganglioneuroma, and one each with yolk sac tumour (YST), neuroblastoma and myofibroblastic bladder sarcoma (MBS). The other patients were not assessed because eight had died or were in severe progression, three were treated by bladder substitution and the others were lost to follow-up or refused a urological evaluation. All 11 children were evaluated at >/= 6 months after surgery with a questionnaire about bowel and voiding habits, a neurological and orthopaedic assessment, a noninvasive urodynamic study, renal ultrasonography and spinal and pelvic magnetic resonance imaging (MRI). All patients with signs of bladder dysfunction were evaluated by a pressure-flow study. The results were analysed for surgical approach and anatomical involvement, i.e. group A, extensive surgery for complete tumour excision in the sacral area (ST and YST); group B, surgery for tumour resection in the paraspinal ganglia area (neuroblastoma and ganglioneuroma); and group C, bladder tumour with partial bladder resection (MBS). RESULTS: Eight patients had signs or symptoms related to bladder sphincter dysfunction. One child refused the invasive urodynamic evaluation, leaving seven for analysis (two each ST and ganglioneuroma, one each YST, neuroblastoma and MBS). The urodynamic findings were normal in three children. On spinal and pelvic MRI a presacral lipoma with syringomyelia was discovered in one child with ST. Eight children had bladder dysfunction and two had no neurogenic damage (which was only in sacral tumours); in one child it was related to an upper motor neurone lesion from spinal dysraphism and in the other to a lower motor neurone lesion from surgical injury to the splanchnic nerves. Patients operated for paraspinal tumours had more bladder dysfunction but no signs of neurogenic damage, as did the patient with partial bladder resection. However in Group B, there may have been a transient or incomplete nerve injury in one patient. CONCLUSIONS: Deficits of parasympathetic, sympathetic and somatic innervation of the bladder and the urethra may occur in children after surgery for pelvic neoplasms, related to minor or major surgical trauma. In ST, a tethered cord may be associated with mixed neurogenic damage. Knowledge of bladder dysfunction in anorectal malformations, spinal dysraphism, etc. and the clinical protocol used in these patients also seemed to be useful for understanding the development of voiding dysfunction in patients with neoplasm.
Experience with spinal dysraphism has taught that spinal cord tethering will eventually produce neurological deficit. The primary diagnostic and monitoring tool, magnetic resonance (MR) scanning, almost always produces images consistent with cord tethering, even in asymptomatic or improved, previously operated patients. This presents a problem in selecting appropriate candidates for prophylactic intervention. Ideally, a method of monitoring should predict functional deterioration. Real-time ultrasonography, electrophysiological tests, and phase-motion MR studies could potentially be adapted for this purpose. The authors have evaluated the latter technique in both symptomatic and asymptomatic dysraphic patients with tethering. Studies of cervical cord motion show a clear separation between results in patients with cord expansion from hydromyelia and those with pure tethering. Symptomatic patients with progressive deficit or pain have limited cervical cord motion which improves after surgical untethering. MR studies of cord motion have definite promise in the prediction of deficit from spinal cord tethering and should be further evaluated in comparison with ultrasound and electrophysiologic methods.
BACKGROUND: Dilatation of the rectum and/or colon, in the absence of demonstrable organic disease, is an uncommon and poorly characterised condition. AIMS: To characterise the clinical and diagnostic features, and response to treatment, of patients with idiopathic megarectum (IMR) and idiopathic megacolon (IMC). METHODS: A retrospective review was undertaken of all patients operated on for these conditions over a 23 year period. In addition all patients treated over a three year period were prospectively studied by means of a questionnaire, contrast studies of the upper and lower intestine, spine x rays to exclude spinal dysraphism, anorectal physiological studies, and assessment of clinical outcome. Patients with Hirschsprung's disease and other known causes of gut dilatation were excluded. RESULTS: (i) Retrospective study: Of 63 operated patients, 22 had IMR, 23 had IMR and IMC, and 18 had IMC only. Five patients with IMC had previous sigmoid volvulus, and three had associated non-gastrointestinal congenital abnormalities. Faecal incontinence was always associated with rectal impaction and 14 patients (82%) with IMR alone had had manual disimpaction. (ii) Prospective study: Twenty two patients had IMR, with a median rectal diameter of 10 cm (normal < 6.5 cm). Six patients had IMC and one patient had IMR and IMC. Patients with IMR were significantly (p = 0.0007) younger than patients with IMC. All patients with IMR became symptomatic in childhood, compared with half the patients with IMC who developed symptoms as adults. Patients with IMR all presented with soiling and impaction, compared with patients with IMC whose symptoms were variable and included constipation or increased bowel frequency, pain, and variable need for laxatives. No upper gut dilatation was seen in either group of patients. Spinal dysraphism was seen in two of 18 patients with IMR and two of four with IMC, suggesting extrinsic denervation as a possible cause in a minority. Twelve of 22 patients with IMR had a maximum anal resting pressure below normal, indicating sphincter damage or inhibition. Both IMR and IMC patients had altered rectal sensitivity to distension, suggesting that despite lack of dilatation the rectum in IMC has altered viscoelasticity, tone, or sensory function. Fifteen of 22 patients with IMR were successfully managed with laxatives or enemas, but seven required surgery. Two of seven patients with IMC required surgery, including one for sigmoid volvulus. CONCLUSIONS: Patients with IMR differ clinically, diagnostically, and in their outcome from patients with IMC. These conditions demand specific investigation, and intensive treatment, to achieve optimum care.
The indications for hindbrain decompression in neonates and young infants with spinal dysraphism who experience brain stem dysfunction in association with Chiari II malformations have remained controversial. This largely reflects the fact that the postoperative outcome in such patients has often been poor, which has supported the belief that much of the brain stem compromise in these patients is congenital and inherently irreversible. However, in a previous retrospective review of our operative results between 1975 and 1989, we noted that a significant component of the brain stem dysfunction in these children was an acquired phenomenon that potentially was reversible with prompt operative intervention. Accordingly, we hypothesized that with early craniocervical decompression, excellent functional outcome could be achieved in a majority of neonates and young infants with symptomatic Chiari II malformations. On the basis of this premise, we prospectively treated all such patients since 1989 with urgent brain stem decompression after other potential causes for brain stem dysfunction, such as progressive hydrocephalus, had been ruled out. All children underwent limited suboccipital craniectomies, cervical laminectomies extending beneath the inferior extent of the cerebellar tissue, and dural decompressions. The outcome in these patients has been favorable in comparison with previous studies. Ten of the 13 children treated according to this protocol recovered normal or nearly normal brain stem function shortly after decompression; 1 child had mild residual unilateral lower cranial nerve paresis. None of these children required a tracheostomy for ventilatory support, and only one required a temporary gastrostomy. The other three children all exhibited bilateral vocal cord paralysis and severe central hypoventilation by the time decompression was performed and failed to have any meaningful recovery of function. We conclude that early recognition of the symptoms of brain stem compromise in neonates and young infants with spinal dysraphism coupled with urgent evaluation and decompression are effective in producing prompt resolution of the brain stem dysfunction in most affected patients. Conversely, the prognosis for recovery is poor in children who exhibit bilateral vocal cord paralysis by the time of decompression.
STUDY DESIGN: In this study, 26 cases of congenital kyphosis and kyphoscoliosis treated surgically were retrospectively reviewed. OBJECTIVE: To assess the clinical outcomes and surgical indications for posterior only versus anteroposterior surgery in the child. SUMMARY OF BACKGROUND DATA: Congenital kyphosis usually is progressive without surgical intervention. Current recommended treatment includes posterior arthrodesis for deformities of less than 50 degrees to 60 degrees, and anterior release or decompression, anterior fusion, and posterior instrumented arthrodesis for large deformities and cord compression. METHODS: Cases involving myelodysplasia, spinal dysgenesis, and skeletal dysplasia were excluded from the study. Kyphoscoliosis was included if the kyphotic deformity was greater than the scoliotic deformity. Patients were grouped by age and surgical technique. The patients in group P1 underwent posterior arthrodesis at an age younger than 3 years, and those in group P2 underwent the procedure at an age older than 3 years. The patients in group AP1 underwent anterior and posterior procedures at an age younger than 3 years, and those in group AP2 underwent the procedures at an age older than 3 years. The preoperative deformity, complications, and postoperative deformity correction were analyzed. There were nine Type 1 (failure of formation), nine Type 2 (failure of segmentation), and eight Type 3 (mixed) deformities. Four patients had associated spinal dysraphism. Three patients with Type 1 deformities had clinical or radiographic evidence of cord compression. RESULTS: In Group P1, five patients at an average age of 16 months underwent posterior arthrodesis alone for an average kyphotic deformity of 49 degrees. The immediate postoperative correction improved over a period of 6 years and 9 months by an additional 10 degrees, resulting in a final deformity of 26 degrees. Pseudarthrosis developed in two patients, requiring fusion mass augmentation or anterior arthrodesis. Neither patient was instrumented. In Group P2, five patients at an average age of 13 years and 7 months underwent posterior arthrodesis with instrumentation for kyphotic deformity of 59 degrees. Approximately 30 degrees of intraoperative correction was achieved safely using compression instrumentation and positioning. No further correction occurred with growth. The final residual kyphotic deformity was 29 degrees after a follow-up period of 4 years and 5 months. In Group AP1, seven patients underwent anterior release or vertebra resection for deformity correction and posterior arthrodesis for an average kyphotic deformity of 48 degrees at the age of 16 months. There were no iatrogenic neurologic injuries. The final residual kyphotic deformity was 22 degrees after a follow-up period of 6 years and 3 months. In Group AP2, nine patients underwent anterior release or decompression with posterior arthrodesis for kyphotic deformity of 77 degrees at the age of 11 years and 6 months. The deformity was corrected to 37 degrees, with no significant loss over a follow-up period of 5 years and 2 months. There were two postoperative neurologic complications. CONCLUSIONS: After reviewing their experience, the authors made the following observations: 1) The pseudarthrosis rate was low even without routine augmentation of fusion mass if instrumentation was used; 2) gradual correction of kyphosis may occur with growth in patients younger than 3 years with Types 2 and 3 deformities after posterior fusion, but appears to be unpredictable; 3) the risk of neurologic injury with anterior and posterior fusion for kyphotic deformity was associated with greater age, more severe deformity, and preexisting spinal cord compromise.
Magnetic resonance imaging of the fetal spine is a vital complement to fetal sonographic examination. Assessing the wide spectrum of spinal dysraphism, as well as spinal neoplasia, allows for more correct prenatal diagnoses, patient care planning, and patient counselling. Proper appraisal of the value of experimental procedures, such as fetal myelomeningocoele repair, requires a high level of diagnostic accuracy for the selection and follow-up of appropriate candidates.
The Manx cat breeds consistently for spinal dysraphism (myelodysplasia) and has spinal cord neuropathologic abnormalities similar to those of myelodysplastic humans. The results of detailed urodynamic and histochemical evaluation of 1 Manx kitten and limited anatomic study of another Manx kitten are described. Urodynamic evaluation revealed significant abnormalities of vesicourethral function: detrusor areflexia, autonomous pressure response to bladder filling, a dysfunctional proximal urethra and poor quality pelvic floor electromyographic activity. Of particular interest, catecholaminergic histochemical studies of the bladder and urethra demonstrated a complete absence of adrenergic fibers, even in the trigone area where they are reported to be abundant. This finding correlated with the urodynamic dysfunction of the proximal urethra. Cholinergic histochemical studies were normal. Examination of the spinal cord revealed moderate hydromyelia throughout the entire length of the cord. The similarities of normal vesicourethral function in man and the cat and our preliminary findings of vesicourethral dysfunction in the Manx cat suggest that this animal may be a particularly valuable model for further research.
PURPOSE: We performed a critical retrospective analysis of the records of all consecutive children who underwent sling cystourethropexy at our institutions. We particularly assessed the incidence and outcome in children who underwent enterocystoplasty in addition to a sling procedure. MATERIALS AND METHODS: Between May 1992 and August 1994, 24 girls and 15 boys 4 to 17 years old (mean age 9) consecutively underwent 1 of 4 techniques of sling cystourethropexy for stress urinary incontinence using rectus fascia via an abdominal approach. Diagnoses included spinal dysraphism in 34 patients, spinal trauma in 2, cecoureterocele in 1, epispadias in 1 and classic bladder exstrophy in 1. All children underwent preoperative video urodynamics. In 4 patients only a sling procedure was performed (group 1), while in 9 others a sling procedure was performed after enterocystoplasty (group 2). In 26 patients a sling procedure and concomitant enterocystoplasty were performed (group 3). RESULTS: Patients who underwent concomitant enterocystoplasty had more hyperactive preoperative urodynamics than those who did not. Postoperative continence was subcategorized in terms of patient age, sex, diagnosis (neurogenic versus nonneurogenic), preoperative video-urodynamics, surgeon technique, group (that is with or without cystoplasty) and type of enterocystoplasty (that is stomach versus ileum). Of these factors only concomitant enterocystoplasty was predictive of postoperative dry continence (73% of group 3, 33% of group 2 and 25% of group 1). In most patients who were not dry postoperative video urodynamics suggested suboptimal outlet resistance overcome by a hyperactive detrusor. No patient had postoperative upper tract deterioration. CONCLUSIONS: These results suggest that concomitant enterocystoplasty should be critically considered for pediatric patients undergoing sling cystourethropexy.
Spinal dysraphism and teratomas are well-recognized spinal cord lesions, but both entities are rare in the cervical spinal cord. Rarely, teratomas have been described within dysraphic lesions in the thoracic and lumbosacral regions. To date, teratomas contained within cervical spine dysraphic lesions have not been described. Although mature cystic teratomas are renowned for the array of organoid tissue differentiation they display, mature lung differentiation is a rarity. While pulmonary differentiation has been described in six female genital tract teratomas, it has not been reported in spinal teratomas. The clinicopathologic features of a complex cervical lesion, comprising a combination of cervical spine dysraphism with a mature cystic teratoma that exhibited pulmonary differentiation, is presented, and the literature on teratomas exhibiting pulmonary differentiation is reviewed.