Thomas S. Berger

Acquired chiari malformations : Incidence, diagnosis, and management

The acquired descent of the cerebellar tonsils radiographically indistinguishable from Chiari I malformations has been previously reported. The relationship between lumbar shunting procedures for hydrocephalus and symptomatic Chiari malformations has been established. We report the cases of 10 children with lumboperitoneal shunts in whom previous radiographic studies had confirmed a normal hindbrain configuration. Seven of the 10 patients acquired tonsillar descent into the foramen magnum, detected by magnetic resonance imaging, whereas the others remained normal. Four of seven patients were symptomatic; two underwent the removal of the lumboperitoneal shunt and conversion to a ventriculoperitoneal shunt, and two underwent posterior fossa decompression. Further magnetic resonance imaging revealed that one of the two patients who underwent conversion shows ascent of the cerebellar tonsils. All four patients became asymptomatic less than 6 months after treatment. In this article, we discuss seven cases of acquired Chiari malformations and the complete reversal of an acquired Chiari malformation after surgical treatment, as documented by magnetic resonance imaging. Cases of asymptomatic acquired Chiari malformations are reported, including those resulting from shunting for intracranial hypertension without hydrocephalus. We conclude that a craniospinal pressure gradient creates a potential for cerebellar tonsil descent and recommend that ventriculoperitoneal shunting be performed in children with communicating hydrocephalus to avoid this potential complication. We also recommend annual surveillance of the cervicomedullary junction in children with lumboperitoneal shunting. Finally, if symptomatic tonsillar descent occurs from lumbar shunting, a trial conversion to ventriculoperitoneal shunting may eliminate the need for posterior fossa decompression.

Traumatic intracranial aneurysms in childhood: two cases and a review of the literature

Traumatic intracranial aneurysms in childhood are rare. To date, 67 well-documented cases in children have been reported. We present 2 additional cases and review the literature. Traumatic aneurysms can best be categorized based on mechanism of injury and location. Aneurysms secondary to penetrating trauma occur most commonly in teenage boys suffering gunshot wounds. Aneurysms secondary to nonpenetrating trauma occur at the skull base or in the periphery, with motor vehicle accidents and falls as the most common modes of injury. Skull base traumatic aneurysms most commonly involve the petrous, cavernous, or supraclinoid carotid artery and also show a predominance in teenage boys. Peripheral traumatic aneurysms can further be divided into distal anterior cerebral artery aneurysms secondary to trauma against the falcine edge and distal cortical artery aneurysms associated with an overlying skull fracture. Peripheral traumatic aneurysms tend to occur in younger patients with a less marked male predominance. Two-thirds of the patients suffered symptomatic aneurysmal hemorrhage, with an associated mortality rate of 31%. The clinical presentation, diagnosis, and treatment of traumatic intracranial aneurysms are discussed.

Acquired Chiari MalformationsIncidence, Diagnosis, and Management

ABSTRACTTHE ACQUIRED DESCENT of the cerebellar tonsils radiographically indistinguishable from Chiari I malformations has been previously reported. The relationship between lumbar shunting procedures for hydrocephalus and symptomatic Chiari malformations has been established. We report the cases of

Sigmoid sinus thrombosis after closed head injury in children.

In the literature, clinical descriptions of sigmoid sinus thrombosis occurring after closed head injury in children are rare. One to 5 days after trauma to the back of the head, five children (aged 1 to 7 yr) presented with gait ataxia, vomiting, and headache. Trauma was mild in four children. Computed tomography of all the children, performed within 5 days after the injury, showed focal hyperdensity in the region of the left sigmoid sinus. Four children had extra-axial hyperdense collections along the left transverse sinus, and three had skull fractures adjacent to the left sigmoid sinus. Magnetic resonance imaging (MRI) of all the children, performed 2 to 6 days after injury, showed left sigmoid-sinus thrombosis and decreased flow or thrombosis within the lateral third of the left transverse sinus. All the children had MRI scans 4 to 6 weeks after their diagnosis and were followed up for 1 to 12 months. In four children whose symptoms subsided completely within 2 to 10 weeks, MRI showed recanalization of the sigmoid sinus within 4 to 6 weeks after injury. In one child whose symptoms resolved after 6 months, sigmoid-sinus thrombosis persisted with the formation of collateral flow. We conclude that traumatic sigmoid-sinus thrombosis should be suspected when a child has persistent or delayed gait ataxia and vomiting after injury to the back of the head. Computed tomography characteristically demonstrated focal hyperdensity within the sigmoid sinus that we term the dense sigmoid-sinus sign. Because the sinus recanalized and the symptoms subsided in most children within 6 weeks, we conclude that prophylactic medical or surgical intervention is not indicated.

Bilateral epidural hematomas

Sixty-four cases of bilateral epidural hematomas were reviewed. The factors of patient age, direction of injuring forces, location of hematomas, presence of associated skull fracture, and time interval between injury and onset of signs and symptoms were analyzed. The results of this analysis show that bilateral epidural hematomas may develop slowly indicate that they occur with traumatic forces predominantly oriented in the anteroposterior direction, have fewer overlying fractures associated with them than unilateral epidural hematomas, and commonly contain venous blood. the differences between unilateral and bilateral epidural hematomas in direction of injuring forces, frequency of overlying skull fracture, and type of hemorrhage suggests that varying mechanisms may be responsible for production of these hematomas. Serial angiograms and CT scans have shown delayed accumulation of blood in bilateral epidural hematomas. This finding challenges the theory that epidural hematomas develop within minutes following injury.

Management of cerebral cavernous angiomas in children presenting with seizures.

Until recently intracranial cavernous angiomas were thought to be rare vascular malformations that usually presented in adulthood as an intracerebral hemorrhage, an expanding mass lesion, or with the new onset of seizures. Prior to the advent of computed tomography (CT), and more recently magnetic resonance imaging (MRI), their diagnosis in childhood was extremely rare. However, the CT and MRI features of cavernous angioma are quite distinctive and allow early diagnosis and treatment. Advances in surgical techniques permit successful removal of these potentially devastating lesions and amelioration of the associated seizure disorder. Seven children with cerebral cavernous angiomas have been treated at the Childrens Hospital Medical Center since 1980. Six children presented with seizures and one with an intracerebral hemorrhage. All had characteristic findings on CT and/or MRI and underwent surgical excision of symptomatic lesions. Intraoperative sonography, electrocorticography, and cortical mapping were used when indicated and were found to be helpful in the surgical management of these patients. Our experience suggests that symptomatic cerebral cavernous angiomas in children are not as rare as previously thought and that surgical treatment using modern neurosurgical techniques is both safe and appropriate and can be helpful in the management of associated seizures.

Basilar impression and platybasia in osteogenesis imperfecta tarda

Osteogenesis imperfecta, a rare, genetically transmitted disorder of bone, is known to be associated with the development of basilar impression and platybasia. These deformities of the base of the skull may cause neurosurgical abnormalities secondary to compression of the brainstem and hydrocephalus. The case is presented of a young boy with a family history of osteogenesis imperfecta tarda who suffered respiratory arrest during hospitalization. Cranial nerves and pyramidal tract signs were demonstrated. Roentgenograms showed severe basilar impression and hydrocephalus. Decompression of the brainstem and shunting were performed with improvement in the patients neurological status. This case represents a rare by significant central nervous system complication of osteogenesis imperfecta. Early recognition and implementation of aggressive treatment are important if irreversible neurological deficits are to be avoided.

Neonatal kyphectomy in the patient with myelomeningocele.

Study Design. A retrospective cohort study was used to investigate a group of neonates with myelomeningocele who had a kyphectomy performed in conjunction with dural sac closure during the first few days of life. Objectives. To assess the effectiveness of operative intervention in the neonatal period to correct the kyphotic deformity in the patient with myelomeningocele and to monitor its long-term results. Summary of Background Data. Orthopedic management originally focused on the immediate treatment of the kyphotic deformity in the infant with myelomeningocele. However, there has been a movement toward postponing surgical treatment of the kyphos until a later age. This study included the longest follow-up of the largest group of neonates that a single surgeon has managed surgically since the treatment of this condition was originally described. Methods. The radiographic and clinical results for all neonates treated with a kyphectomy at the time of myelomeningocele closure between 1980 and 2000 were analyzed. Results. Neonatal kyphectomy was performed on nine males and two females. The average preoperative kyphotic angle measured 67°. The average initial correction was 77°, and the average loss of correction at follow-up assessment was 55°. There were no serious complications, and wound closure was successful in all patients. One patient required a repeat kyphectomy and posterior spinal fusion at the age of 9 years and 2 months. The average follow-up period was 7 years and 4 months (range 44–174 months). Conclusions. Kyphectomy performed at the time of dural sac closure in the neonate is a safe procedure with excellent initial correction. Eventual recurrence is expected despite the procedure. However, it occurs in the form of a longer, more rounded deformity that is less technically demanding.

Familial Mediterranean fever in children and adolescents: factors for colchicine dosage and predicting parameters for dose increase

Objectives The aim was to analyse factors influencing the individual colchicine dose in children with FMF, to evaluate the impact of dose adjustment on the clinical course and inflammation and to identify clinical parameters and biomarkers that predict dose increase in the near future. Methods Data from 409 paediatric FMF patients (4566 visits) derived from the national auto-inflammatory diseases registry were analysed. Serum concentrations of S100 molecules were determined by ELISA. Results The age-dependent colchicine dose is influenced by the present genotype. The body surface area is the anthropometric parameter that correlates best with the applied dosages. Colchicine introduction and dose increase lead to significant reduction of clinical symptoms and inflammation. During established colchicine therapy, an increase of one single biomarker increases the likelihood of a dose increment in the next 12 months with a factor of 1.62-1.94. A combination of biomarkers including S100 molecules increases this odds ratio up to 4.66 when analysing all patients and up to 7.27 when analysing patients with a high risk of severe disease. Conclusion Colchicine therapy is currently guided mainly by the occurrence of clinical symptoms and serological inflammation. Other factors, such as the genotype, the body surface area and biomarkers, will help to manage colchicine therapy in a more individualized fashion. The additional analysis of S100 molecules as sensitive biomarkers will help to identify patients at risk for dose increases in the near future.

P01-008 – FMF genotype-phenotype correlations in Germany

Familial Mediterranean fever (FMF) is one the most common autoinflammatory disease (AID). Pathogenomic relevant mutations in the MEFV gene show autosomal recessive inheritance, but co-dominant mutations have been described.