Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia.

Background: Megalencephaly-capillary malformation (M-CM) syndrome is a rare overgrowth syndrome characterized by macrocephaly, port-wine stains, asymmetric brain growth, hydrocephalus, and developmental delay. Cerebellar tonsil herniation is often seen, but rarely with syringomyelia. Case Description: A newborn with M-CM syndrome developed a progressive Chiari malformation type I (CM-I) with syringomyelia. At 4 months, he was treated for subdural hematomas, while at 10 months, he required a shunt for hydrocephalus. At 16 years of age, he newly presented a left hemiparesis and ataxia. Notably, successive volumetric measurements of the posterior fossa/cerebellum showed disproportionate cerebellar growth over time that correlated with the appearance of a CM-I. Following a suboccipital craniectomy with C1-laminectomy and duraplasty, he neurologically improved. Conclusion: M-CM with CM-I and syringomyelia rarely present together. Here, we treated an infant with M-CM who developed a progressive CM-I malformation and syringomyelia reflecting disproportionate growth of the cerebellum/posterior fossa over a 16-year period.

Spinal cord herniation after brachial plexus injury.

Background: Spinal cord herniation (SCH) is an uncommon cause of myelopathy. Documented trauma is a rare cause, and most cases are idiopathic. One special type of trauma that may lead to SCH is a brachial plexus injury. We report a case of SCH with delayed neurological symptoms after a brachial plexus injury. We reviewed the literature and illustrated the closing technique as described by Batzdorf. Case Description: Following a motor vehicle accident, a 27-year-old male sustained a brachial plexus injury and multiple left-sided nerve root avulsions (C6, C7, and C8) resulting into a full paralysis of the left arm. There was also a loss of pain and temperature sensation on the right side of the body. He underwent reconstructive surgery without any functional improvement. After 6 to 7 years his condition worsened. Magnetic resonance imaging revealed a left-sided SCH at the level of C7. He underwent a C6-C7 laminectomy which revealed a pseudomeningocele at C6-C7 accompanied by focal SCH at the location of the C7 root. The SCH was reduced intradurally and the dural defect of the meningocele was covered with a Neuropatch membrane wrapped around the spinal cord (between the spinal cord and the dura) according to the technique described by Batzdorf. Postoperatively, the neurological symptoms improved. Conclusion: SCH should be surgically repaired utilizing the technique described by Batzdorf if further neurological deficits develop.

Posterolateral approach in a neurofibromatosis type-I patient with severe dystrophic thoracic kyphoscoliosis: A case report, cadaver study, and literature review.

Neurofibromatosis type-I (NF-I) is an autosomal-dominant hereditary disorder, in which spinal skeletal deformities are one of the manifestations and manifest as acquired abnormalities and present as short, sharp, and angular (usually thoracic) curves. The scoliosis can be severe requiring surgical intervention. The surgical procedure can be difficult because of scalloping of the vertebral bodies and dural ectasia. We state that in selected cases of severe thoracic dystrophic kyphoscoliosis in NF-I, the posterolateral approach is the only possible method to visualize the anterior thoracic spinal cord, perform anterior decompression, and to stabilize the thoracic deformity, because of the anterior dural ectasias and the kyphosis limiting an anterior procedure.

What the neurosurgeon should know about hemangioblastoma, both sporadic and in Von Hippel-Lindau disease: A literature review.

BACKGROUND: Hemangioblastomas are associated with Von Hippel-Lindau disease (VHLD) in 10-40% of cases. Based upon a literature review we state the core features the neurosurgeon should be aware of. METHODS: We performed a selective literature (Cochrane and Medline) search for hemangioblastoma, both sporadic and VHL associated. We reviewed general characteristics (epidemiology, symptomatology, diagnosis, and management) and focused on follow-up as well as screening modalities for sporadic and VHL associated lesions. RESULTS: Based upon our literature search, we established guidelines for screening and follow-up in both sporadic and VHL associated hemangioblastoma patients. CONCLUSIONS: Screening for retinal angiomas, abdominal masses, and pheochromocytomas as well as genetic analysis is recommended for every patient with a newly diagnosed hemangioblastoma. Follow-up is by magnetic resonance imaging (MRI) of the clinical neuronal region at 6 and at 12-24 months postoperatively. For VHL-associated hemangioblastomas yearly investigation for craniospinal hemangioblastoma by MRI and yearly screening and follow-up for retinal angiomas is recommended. Annual abdominal ultrasound with triennial computed tomography (CT) imaging for abdominal masses is postulated. Annual audiometry is to be performed for possible endolymphatic sac tumor, detailed radiographic imaging of the skull base should be performed upon abnormality in auditory testing. Investigations for cystadenomas of the epidydimis and broad ligament only are mandatory on indication. Annual investigation for pheochromocytoma is recommended.

Ependymomas of the filum terminale: The role of surgery and radiotherapy.

BACKGROUND: Ependymomas of the filum terminale (EFT) form a specific and relatively uncommon subtype of spinal cord ependymomas. Most series in the literature are small, spanning a large time period. Up to date no consensus has been reached about the optimal treatment of these lesions. Some authors promote postoperative radiotherapy for all cases, others advocate postoperative radiotherapy only when a subtotal resection is performed or when metastasis are apparent. METHODS: We performed a retrospective analysis of 22 patients with an EFT (mean age at diagnosis of 35.6 years). RESULTS: In all patients (9/22) with lesions smaller than 4.5 cm no metastases were present and a complete resection could be obtained. No adjuvant radiotherapy was performed and at latest follow they had an excellent outcome. In our series, these initial tumor characteristics were more important regarding prognosis than either histology or treatment-related factors. For the larger tumors, total resection was obtained less frequently, more dissemination was diagnosed and a worse outcome was scored. Radiotherapy if indicated did lead to an acceptable disease control. CONCLUSION: In every case of EFT, an individual treatment protocol has to be outlined, but if an EFT is relatively small and can be resected completely, we would advocate to withhold radiotherapy.

Paraganglioma of the cauda equina region: A report of three cases.

BACKGROUND: Cauda equina paragangliomas (CEP) are rare tumors. Low back pain and sciatica are the main presenting symptoms. Magnetic resonance imaging (MRI) is the study of choice and treatment consists of total excision when feasible. Definitive diagnosis can only be made after immunohistochemical investigation. CEP is classified as grade I WHO and after total removal the prognosis is excellent. Nonetheless, after subtotal removal, tumor recurrence can occur. CASE DESCRIPTION: We present 3 cases of CEP, preoperatively diagnosed as an intradural mass on MRI and suspected to be ependymoma. All 3 patients presented with low back pain and variable sciatic pain. Total resection of the tumor was performed after which all patients fully recovered. There is no recurrence after 13, 11, and 5 years, respectively. CONCLUSION: CEP is a rare tumor. We diagnosed 3 paragangliomas out of a series of 105 intradural extramedullary tumors in adults (1994-2005). No recurrence was seen after total resection. In retrospect, both the intraoperative appearance and the MR image were not completely typical for schwannoma or ependymoma, but final diagnosis can only be made histologically.

Multimodal therapeutic assessment of peripheral nerve stimulation in neuropathic pain: five case reports with a 20-year follow-up.

Neuropathic pain following peripheral nerve lesion is highly resistant to conventional pain treatments but may respond well to direct electrical peripheral nerve stimulation (PNS). In the 1980s, we treated a series of 11 peripheral neuropathic pain patients with PNS. A first outcome assessment, conducted after a 52-month follow-up, revealed that the majority of the patients were significantly improved. Here, we present the results of a second and more comprehensive follow-up, conducted after more than 20years of PNS usage. Of the six patients still using PNS, five participated in a multimodality assessment of the long-term efficacy of PNS. Home evaluations showed reduced pain ratings and improved quality-of-life during active periods of stimulation. Quantitative sensory testing confirmed the neuropathic character of the pain complaints. PNS had no significant overall effect on tactile detection, cool, warmth, cold pain and heat pain thresholds. Laser-evoked potentials showed an enlarged N2-P2 complex during active PNS. Positron Emission Tomography revealed that PNS decreased activation in the pain matrix at rest and during thermal stimulation. PNS led to increased blood flow not only in primary somatosensory cortex, but also in anterior cingulate and insular cortices, suggesting that besides activation of the dorsal column lemniscal system, other mechanisms may play a role in its analgesic effects. These data show that PNS can provide truly long-term pain relief in carefully selected patients and they provide some objective quantitative data in support of this. They encourage the planning of future prospective studies in a larger cohort of patients.