Cervicothoracic Syringomyelia Research Articles

Chiari type I malformation with cervicothoracic syringomyelia subterfuge as flail arm syndrome.

Chiari type I malformation with cervicothoracic syringomyelia although very common in clinical practice usually in children can progress slowly and mimic muscular dystrophies in adulthood. We present a rare adult case of Chiari type I malformation with cervicothoracic syringomyelia subterfuge as Flail arm syndrome. A 44-year-old man was diagnosed with congenital type I Chiari malformation with cervicothoracic syringomyelia about 21 years ago without surgery. His health status deteriorated over the years until 21 days prior to presentation when he had severe pain in the right knee. In his upper limbs, he had bilateral corresponding severe weakness of 0/5 proximal strength and 0/5 strength in his distal muscles. Magnetic resonance imaging (MRI) revealed an enlargement of the spinal cord from C1-C4 level with a mass that appeared hypo-dense on T1 and hyperdense on T2. Syringomyelia is a potentially serious neurologic condition that can mimic other neuromuscular disorders. Early detection and diagnosis with MRI is crucial to avoid irreversible neurological complications. We suggest that whether asymptomatic or symptomatic, decompressive surgery should be carried out to allow for free flow of cerebrospinal fluid thereby improving the quality of life for the patient.

Treatment of Syringomyelia in Patients with Arachnoiditis at the Craniocervical Junction.

Craniocervical junction arachnoiditis (CCJA) is an uncommon cause of syringomyelia. The pathophysiology of syrinx formation is uncertain, and the appropriate management unclear. A series of cases is reported to demonstrate variations in etiology, uniformity of functional cerebrospinal fluid obstruction at the foramen magnum, and results of surgical intervention. We retrospectively analyzed the clinical and radiologic features of a consecutive series of patients treated for syringomyelia related to CCJA. Eight patients (5 male, 28-66 years old) were treated from 2000 to 2016. Magnetic resonance imaging demonstrated cervicothoracic syringomyelia in all cases, with the rostral extension of the syrinx suggesting communication with the fourth ventricle in all but one case. There was reduction of foramen magnum cerebrospinal fluid space in all cases, cerebellar ectopia in 5 cases, and fourth ventricular entrapment in 3 cases. Treatment consisted of posterior fossa decompression with either a GoreTex or pericranial patch graft. Six patients had a fourth-ventricle spinal subarachnoid shunt. Two patients had titanium mesh cranioplasty. The immediate postoperative period was associated with reduction in syrinx cavity size and improvement in neurologic symptoms in all cases. At follow-up 10-60 months postoperatively, 3 patients exhibited recurrence of the syrinx and underwent successful reoperation at the craniocervical junction. One patient with persistence of the inferior component of the syrinx was treated with a syrinx-spinal subarachnoid shunt. Most syrinx cavities associated with CCJA communicate with the fourth ventricle. Posterior fossa decompression and fourth ventricle to spinal subarachnoid space shunting appears a reasonable treatment for this form of syringomyelia.

Intraoperative somatosensory evoked potential recovery following opening of the fourth ventricle during posterior fossa decompression in Chiari malformation: case report

The most appropriate surgical technique for posterior fossa decompression in Chiari malformation (CM) remains a matter of debate. Intraoperative electrophysiological studies during posterior fossa decompression of Type I CM (CM-I) aim to shed light on the entity's pathomechanism as well as on the ideal extent of decompression. The existing reports on this issue state that significant improvement in conduction occurs after craniotomy in all cases, but additional durotomy contributes a further improvement in only a minority of cases. This implies that craniotomy alone might suffice for clinical improvement without the need of duraplasty or even subarachnoid manipulation at the level of the craniocervical junction. In contrast to published data, the authors describe the case of a 32-year-old woman who underwent surgery for CM associated with extensive cervicothoracic syringomyelia and whose intraoperative somatosensory evoked potentials (SSEPs) did not notably improve after craniotomy or following durotomy; rather, they only improved after opening of the fourth ventricle and restoration of CSF flow through the foramen of Magendie. Postoperatively, the patient recovered completely from her preoperative neurological deficits. To the authors' knowledge, this is the first report of significant SSEP recovery after opening the fourth ventricle in the decompression of a CM-I. The electrophysiological and operative techniques are described in detail and the findings are discussed in the light of available literature. The authors conclude that there might be a subset of CM-I patients who require subarachnoid dissection at the level of the craniocervical junction to benefit clinically. Prospective studies with detailed electrophysiological analyses seem warranted to answer the question regarding the best surgical approach in CM-I decompression.

Occipitocondylar hyperplasia and syringomyelia presenting with facial pain

The authors describe a unique presentation and long-term management of a rare craniovertebral abnormality in a patient presenting to their institution. This 10-year-old girl presented with right-sided facial pain and subjective dysesthesia of the chest wall without evidence of cervical myelopathy. She was found to have extensive cervicothoracic syringomyelia secondary to compression at the foramen magnum by hypertrophic occipital condyles. Posterior decompression and medial condylectomy was performed, with significant radiological and clinical improvement over the next 5 years of follow-up. The authors discuss the clinical pathophysiology and operative techniques used.

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

16p11.2 rearrangements are associated with developmental delay, cognitive impairment, autism spectrum disorder, behavioral problems (especially attention-deficit hyperactivity disorder), seizures, obesity, dysmorphic features, and abnormal head size. In addition, congenital anomalies and abnormal brain findings were frequently observed in patients with these rearrangements. We identified and performed a detailed microarray, phenotypic, and radiological characterization of three new patients with 16p11.2 rearrangements: two deletion patients and one patient with the reciprocal duplication. All patients have a heterozygous loss (deletion) or gain (duplication) corresponding to chromosomal coordinates (chr16: 29 528 190-30 107 184) with a minimal size of 579 kb. The deletion patients had language delay and learning disabilities and one met criteria for pervasive developmental disorder not otherwise specified. The duplication patient received a diagnosis of autism and had academic deficits and behavioral problems. The patients with deletion had long cervicothoracic syringomyelia and the duplication patient had long thoracolumbar syringomyelia. The syringomyelia in one patient with deletion was associated with Chiari malformation. Our findings highlight the broad spectrum of clinical and neurological manifestations in patients with 16p11.2 rearrangements. Our observation suggests that genes (or a single gene) within the implicated interval have significant roles in the pathogenesis of syringomyelia. A more comprehensive and systematic research is warranted to study the frequency and spectrum of malformations in the central nervous system in these patients.

Flexor myoclonus of the arm due to posttraumatic cervico-thoracic syringomyelia

Flexor myoclonus of the arm due to posttraumatic cervico-thoracic syringomyelia

Immediate resolution of tonsillar herniation and severe cervicothoracic syringomyelia after third ventriculostomy for hydrocephalus caused by a brainstem tumor

The authors report the case of a patient who harbored a large intrinsic brainstem tumor associated with tonsillar herniation, hydrocephalus, and severe cervicothoracic syringomyelia. This 15-year-old girl had a 2-month history of progressively worsening headaches. Magnetic resonance imaging showed a large tumor in the dorsolateral brainstem accompanied by hydrocephalus as well as a cervicothoracic syrinx extending to the level of T-8. She underwent endoscopic third ventriculostomy that resulted in a marked decrease in the ventricle size as well as complete resolution of the syrinx and tonsillar herniation within 4 days. Clinical and neuroimaging findings of the case along with a pertinent literature review are presented.

Nontraumatic Cervicothoracic Syrinx as a Cause of Progressive Neurologic Dysfunction

Background/Objective: Syringomyelia is characterized by a fluid-filled cavity within the spinal cord. While its pathogenesis is currently debated, the relationship of syringomyelia with other conditions, such as Chiari I malformation and cord/column trauma, is well accepted. Despite these common associations, a nidus for syrinx formation has not been identified in a subset of patients. We report 2 patients with idiopathic cervicothoracic syringomyelia who presented with progressive neurologic dysfunction. Diagnostic and treatment algorithms used in the care of these patients are presented.Methods: Retrospective review, including preoperative and postoperative studies, intraoperative findings, and the patients' surgical outcomes.Results: Patients underwent laminectomy, lysis of adhesions, untethering of spinal cord, fenestration of syrinx, and duraplasty after preoperative studies demonstrated evidence of focal cerebrospinal fluid flow block at the level of the syrinx. One patient's neurologic condition improved after surgery, whereas the other's remained unchanged without further deterioration; both showed radiographic decrease in the syrinx on immediate postoperative magnetic resonance imaging.Conclusions: These 2 cases illustrate patients who develop a cervicothoracic syrinx in the absence of any trauma, infection, previous manipulation of the neuraxis, or malformations known to be associated with a syringomyelia. Whereas there is no consensus on the optimal management of these patients, the patients reported here experienced arrest in deterioration or improvement of their neurologic examination, making the identification of this condition important as a potentially reversible cause of neurologic deficits. Long-term follow-up is required to determine the efficacy, durability, and lifestyle impact of the procedure.

Spontaneous regression of syringomyelia in Hajdu—Cheney syndrome with severe platybasia

Hadju-Cheney syndrome (HCS) is a rare autosomal-dominant disorder with variable expressivity. It is characterized by facial dysmorphism, premature tooth loss, osteolysis of distal phalanges, and skull abnormalities. In some cases, progressive platybasia can occur and can lead to Chiari malformation with an obstruction of cerebrospinal fluid flow. To the best of the authors' knowledge, only five cases of HCS-associated syringomyelia have been reported in the literature. Because of the rarity of this association, little is known about its natural history. The authors present the case of a 16-year-old boy affected by HCS. On initial magnetic resonance (MR) imaging, a severe basilar invagination with Chiari malformation and cervicothoracic syringomyelia was documented. The syringomyelia had no clinical manifestations. A repeated MR image demonstrated a spontaneous resolution of the syrinx with no changes in the tonsil or the platybasia. The regression of the syringomyelia was confirmed by a control MR imaging examination performed after a 2-year period. No changes in the patient's clinical conditions were found during the follow-up period. This is the first case of spontaneous regression of the syringomyelia despite a severe platybasia in HCS. It did not appear correlated to a modification of the tonsil's structure or position. This observation illustrates one possible evolution of syringomyelia in the natural history of HCS and raises the question of the potential mechanisms involved in the spontaneous drainage of the syringomyelic cavity.

Résolution spontanée d’une cavité syringomyélique dans le cadre d’une malformation de Chiari I chez un enfant : à propos d’un cas

Cervicothoracic syringomyelia is a frequent feature in Chiari I malformation. It can be symptomatic or not, and is well demonstrated by magnetic resonance imaging (MRI). Its spontaneous resolution is uncommon. The authors report a case of spontaneous resolution of a thoracic syrinx in an 18-year-old patient with a Chiari I malformation. MRI study performed 6 years previously because of worsening headaches demonstrated a Chiari I malformation associated with a syrinx cavity. The cavity disappearance was noted after improvement of the symptoms.

Intraoperative Monitoring of Median Nerve Somatosensory Evoked Potentials in Cervical Syringomyelia: Analysis of 28 Cases

Intraoperative median nerve somatosensory evoked potentials (SEP) were monitored in 28 patients undergoing surgery for cervical or cervicothoracic syringomyelia. Analysis was focused on SEP components N13 (spinal cord), P14 (brain stem), and N20 (cortex). N13 was lacking in nearly 87% of the patients (due to a combined effect of syringomyelia and general anesthesia) and never recovered. P14 showed a significant (> 10%) intraoperative latency increase in two patients; this was irreversible in one patient who had a postoperative worsening of sensory function. N20 showed no relevant alterations. Pure motor deficits after surgery were not predicted by SEP monitoring. In conclusion, intraoperative P14 recording helped to identify harm to the dorsal columns and probably prevented the cord from irreversible damage in one case, whereas N13 recording did not contribute to the monitoring of spinal cord function during surgery for syringomyelia.