David G. McLone

Spina bifida outcome: A 25-year prospective

Background: Open spina bifida is the most complex congenital abnormality compatible with long-term survival. This report outlines the 20- to 25-year outcome for our original cohort of patients with a myelomeningocele treated in a nonselective, prospective manner. Methods: Of the initial 118 children, 71 patients were available for our most recent review. Nineteen patients have been lost to follow-up and 28 patients have died. Data were collected on: motor level, shunt status, education/employment, seizure history, mobility, bladder/bowel continence, tethered cord, scoliosis, latex allergy, posterior cervical decompression, tracheostomy and/or gastrostomy tube. Results: Mortality (24%) continues to climb into young adulthood. Eighty-six percent of the cohort have cerebrospinal fluid diversion, with 95% having undergone at least one shunt revision. Thirty-two percent have undergone a tethered cord release, with 97% having an improvement or stabilization in their preoperative symptoms. Forty-nine percent have scoliosis, with 43% eventually requiring a spinal fusion. Sixteen patients (23%) have had at least one seizure. Eighty-five percent are attending or have graduated from high school and/or college. More than 80% of young adults have social bladder continence. Approximately 1/3 of patients are allergic to latex, with 6 patients having experienced a life-threatening reaction. Conclusion: At least 75% of children born with a myelomeningocele can be expected to reach their early adult years. Late deterioration is common. One of the greatest challenges in medicine today is establishing a network of care for these adults with spina bifida.

The cause of Chiari II malformation: a unified theory.

The cause of the Chiari II hindbrain deformity in children born with a myelomeningocele can be explained by the lack of distention of the embryonic ventricular system. Defective occlusion and an open neural tube precludes the accumulation of fluid and pressure within the cranial vesicles. This distention is critical to normal brain development. The small posterior fossa, cerebral disorganization, and lückenschädel are the result.

Factors influencing posttraumatic seizures in children

&NA; The ideal treatment of children with head trauma would include prevention of posttraumatic seizures. Ninety‐two of 937 children with head injuries (9.8%) experienced posttraumatic seizures. In 94.5% of these patients (87 of 92), seizures developed within the first 24 hours after injury. Three children convulsed between 24 hours and 7 days, but only 2 children developed seizures after the 1st week. Factors found to influence the likelihood of seizures included severe head injury (GCS, 3 to 8), diffuse cerebral edema, and acute subdural hematoma (P < 0.001). Seizures occurred in 35% of severely head‐injured children compared to 5.1% with minor head injury (P < 0.001). A less significant correlation (P < 0.1) was noted between seizures and open, depressed skull fractures. We found no significant correlation between seizure occurrence and numerous other factors including age, sex, fracture location and type (other than open, depressed fractures), parenchymal injuries, fixed neurological deficits, and cranial operation. Based on our observations, we recommend the prophylactic use of anticonvulsants in children at higher risk for posttraumatic seizures: those with diffuse cerebral edema, acute subdural hematoma, open, depressed skull fracture with parenchymal damage, or severe head injury (GCS ≤ 8).

Analysis of 153 Patients with Myelomeningocele or Spinal Lipoma Reoperated upon for a Tethered Cord

After primary repair of myelomeningoceles or lipomyelomeningoceles, late progressive neurologic deterioration commonly occurs due to a treatable cause. In our experience many of these patients have a tethered cord. With early untethering, most patients are stabilized and a significant percent of the patients show improvement in their clinical status. Of 341 tethered cord releases done from 1981 to 1988, we report on 153 patients reoperated upon following primary repair. One hundred were performed after primary closure of a myelomeningocele and 53 after repair of a lipomyelomeningocele. The average age of the patients with a myelomeningocele was 6 years old, and for the spinal lipoma patients, 8 years old. The presenting symptoms were similar; weakness, deterioration in gait, scoliosis, orthopedic deformities, and urinary incontinence represented the most common complaints. All 153 patients were noted to have a tethered cord at operation. Additional pathology (dermoid tumors, hydromyelia, tight filum and diastematomyelia) was present in 30% of the cases. With the use of the CO2 laser for dissection, all but 10 patients could be untethered. Follow-up over an average of 4 years revealed 93% of the patients with a myelomeningocele had stabilization or improvement of their presenting complaints, and 7% had progression of their presenting complaints. All of the lipomyelomeningocele patients had either stabilization or improvement of their presenting complaints. There were no mortalities. Close follow-up and early treatment of this patient population is indicated. With release of the cord a significant portion of the population will have relief or improvement of their presenting complaints.

Surgical results of posterior fossa decompression for patients with Chiari I malformation

IntroductionAn increasing number of children with Chiari I malformations are coming to the attention of neurosurgeons today, although a consensus on the surgical approach to these lesions has yet to be found.MethodsWe present a retrospective analysis of posterior fossa decompression (PFD) performed at our institution on 96 patients from 1989 to 2001. Statistical analyses based on clinical and radiographic presentation and the types of surgical procedures used formed the basis for our review.ResultsMost of the patients with hydromyelia underwent duraplasty procedures with or without tonsillar manipulation. In contrast, most patients without hydromyelia underwent bony decompression with dural scoring and intraoperative ultrasound. PFD with bony decompression and dural scoring showed a 72% success rate, compared with 68% for duraplasty. Dural opening was not more likely to improve or arrest hydromyelia. The group subjected to duraplasty, however, had a significantly higher complication rate. Patients under the age of 8 fared better than their older counterparts.ConclusionsOverall, we favor a tailored posterior fossa craniectomy with dural scoring as the initial surgical procedure in children with Chiari I malformation with or without a syrinx. This less invasive approach minimizes complications associated with dural opening and offers comparable success rates.

The Chiari II malformation: cause and impact

IntroductionIt is the Chiari II malformation and its effects that determine the quality of life of the individual born with spina bifida.DiscussionThe cause of this malformation has been a source of debate for many years. Understanding the cause enables strategies for the management of problems created by this malformation to be developed. An open neural tube defect allows fluid to escape from the cranial vesicles, altering the intracranial environment and leads to all of the brain changes seen in the Chiari II malformation. Decompression of the intracranial vesicles causes overcrowding, decrease in the size of the third ventricle, and changes in the fetal skull. It also permanently links the intracranial ventricular system to the spinal cord central canal.

Head injuries in children under 36 months of age - Demography and outcome

Head injuries in children under the age of 3 years have not been extensively studied, due in part to the lack of an objective tool for neurological assessment. We have developed a Childrens Coma Scale (CCS) by modifying the verbal response subscore of the Glasgow Coma Scale (GCS) to overcome this limitation. When applied prospectively to children under 3 years of age, we found the CCS to be useful in predicting outcome. During the 5-year study period from 1981 to 1985, there were 738 patients with head injuries (0–16 years) admitted to the Childrens Memorial Hospital in Chicago, including 318 (43.1%) less than 3 years of age. Initial data demonstrated the following observations. The most common mechanism of injury was a fall (75.5%). Although a brief loss of consciousness (LOC) was reported in three-fourths of the patients, prolonged LOC of more than 6 h was uncommon (16/318, 5.0%). The classically described “lucid interval” was seen in only 7 children (2.2%) and was not a reliable indicator of epidural hematoma. Post-traumatic seizures developed more commonly in children under 2 years of age (15.7%) than in older children (11.6% under 3 years of age, 9.6%, entire group), (P<0.001). Oculovestibular reflex and bilateral fixed dilated pupils had the most reliable correlation with outcome. Other brain-stem reflexes were less useful. Intracranial pressure greater than 40 torr in children with CCS scores of 3, 4 or 5 was inevitably fatal; however, 10 of 16 children with ICP less than 40 torr showed a good outcome.

Neural tube defects and folate pathway genes : Family-based association tests of gene-gene and gene-environment interactions

Background Folate metabolism pathway genes have been examined for association with neural tube defects (NTDs) because folic acid supplementation reduces the risk of this debilitating birth defect. Most studies addressed these genes individually, often with different populations providing conflicting results. Objectives Our study evaluates several folate pathway genes for association with human NTDs, incorporating an environmental cofactor: maternal folate supplementation. Methods In 304 Caucasian American NTD families with myelomeningocele or anencephaly, we examined 28 polymorphisms in 11 genes: folate receptor 1, folate receptor 2, solute carrier family 19 member 1, transcobalamin II, methylenetetrahydrofolate dehydrogenase 1, serine hydroxymethyl-transferase 1, 5,10-methylenetetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate-homo-cysteine methyltransferase, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, betaine-homocysteine methyltransferase (BHMT), and cystathionine-beta-synthase. Results Only single nucleotide polymorphisms (SNPs) in BHMT were significantly associated in the overall data set; this significance was strongest when mothers took folate-containing nutritional supplements before conception. The BHMT SNP rs3733890 was more significant when the data were stratified by preferential transmission of the MTHFR rs1801133 thermolabile T allele from parent to offspring. Other SNPs in folate pathway genes were marginally significant in some analyses when stratified by maternal supplementation, MTHFR, or BHMT allele transmission. Conclusions BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor. Further investigation of folate and methionine cycle genes will require extensive SNP genotyping and/or resequencing to identify novel variants, inclusion of environmental factors, and investigation of gene–gene interactions in large data sets.

Spinal lipomas in children: Outcome of 270 procedures?

Spinal lipomas are a common cause of spinal cord tethering. Recently, prophylactic surgical removal of spinal lipomas has been questioned, especially of the conus medullaris. Unfortunately, few statistically significant series have been reported. A total of 213 children with spinal lipomas were operated on at the Childrens Memorial Hospital in Chicago, Ill., USA, on whom 270 procedures were carried out between 1975 and 1995. The status of these children was retrospectively reviewed to determine the differences in outcome between patients prophylactically operated on before the onset of symptoms and those operated on after the onset of symptoms. Fifty-five patients presented with a lipoma of the filum terminale and 158 with a lipoma of the conus medullaris. In the filum terminale group, 28 were asymptomatic at the initial operation, and 27 presented with symptoms. Of the asymptomatic children with filum terminale lipomas, none worsened after surgery, and all remained asymptomatic throughout follow-up (mean follow-up: 3.4 years). Benefits were also observed for the symptomatic patients in this group as no cases of further deterioration were noted, and 5 patients returned to normal clinical status. In the conus group, 71 patients were asymptomatic at initial surgery, and 87 presented with symptoms. In the case of conus medullaris lipomas, 9 of the 71 children who were operated on prophylactically, later deteriorated (mean follow-up: 6.2 years) and required a second untethering operation which resolved all symptoms in 4 cases. Thus, 5 of 71 deteriorated, while 66 remained normal (93%) throughout the period of follow-up. On the other hand, of the 87 patients operated on after the onset of symptoms, 36 (41%) deteriorated further and required subsequent reoperations. In these 87 children, the final outcome at the end of follow-up (mean follow-up: 6.6 years) showed that 20 (23%) patients had deteriorated compared to initial presentation and 44 (51%) remained at initial clinical baseline, while 23 (26%) improved or returned to normal clinical status. Prophylactic surgery in the case of the asymptomatic infant with a spinal lipoma showed a clear benefit. Good outcome was also observed when surgery was carried out after the onset of symptoms. Prophylactic surgery also had a better general outcome by actuarial calculations when only patients with a follow-up of more than 5 years were considered. Deterioration occurred in 5 (16.7%) of the 30 children with a follow-up of more than 5 years, while 25 (83.3%) remained normal. Furthermore, in cases which had prophylactic surgery, there was not only a smaller incidence of deterioration requiring a reoperation, but this group of patients also experienced a longer time interval between initial surgery and the need for reoperation compared to the patients operated on after the onset of symptoms. The authors conclude that spinal lipomas should be operated on as soon as possible on a prophylactic basis, and careful and constant follow-up should be carried out to permit prompt reintervention in cases with deterioration.

Anorectal malformations: Evaluation of associated spinal dysraphic syndromes*

The early recognition and treatment of correctable lesions of the terminal spinal cord in patients with anorectal malformations may preserve important neurologic function. Tethered cord and intraspinal masses are detectable with the use of high-resolution ultrasonography in the neonate. Fourteen infants and children with anorectal malformations and associated spinal dysraphism have been identified in our institution over the past 7 years. Six patients had cloacal exstrophy, and eight had imperforate anus (four high and four low lesions). The spinal lesions caused symptoms in only seven children; progressive neurologic deficit in five, and urinary incontinence or retention in two others. Five asymptomatic patients with cutaneous abnormalities on the back were studied and two were discovered during scoliosis evaluation. Imaging techniques included high-resolution ultrasonography, computed tomography with and without metrizamide myelography, and magnetic resonance imaging. Spinal sonography was highly accurate in the neonatal period. The application of ultrasonography can be of great advantage in early screening of patients with anorectal malformations and, in some cases, may eliminate the need for invasive imaging techniques.