-
Acta Otorrinolaringologica Espanola 2015Chiari malformation is an alteration of the base of the skull with herniation through the foramen magnum of the brain stem and cerebellum. Although the most common... (Review)
Review
INTRODUCTION
Chiari malformation is an alteration of the base of the skull with herniation through the foramen magnum of the brain stem and cerebellum. Although the most common presentation is occipital headache, the association of audio-vestibular symptoms is not rare. The aim of our study was to describe audio-vestibular signs and symptoms in Chiari malformation type i (CM-I).
MATERIALS AND METHODS
We performed a retrospective observational study of patients referred to our unit during the last 5 years. We also carried out a literature review of audio-vestibular signs and symptoms in this disease.
RESULTS
There were 9 patients (2 males and 7 females), with an average age of 42.8 years. Five patients presented a Ménière-like syndrome; 2 cases, a recurrent vertigo with peripheral features; one patient showed a sudden hearing loss; and one case suffered a sensorineural hearing loss with early childhood onset. The most common audio-vestibular symptom indicated in the literature in patients with CM-I is unsteadiness (49%), followed by dizziness (18%), nystagmus (15%) and hearing loss (15%). Nystagmus is frequently horizontal (74%) or down-beating (18%). Other audio-vestibular signs and symptoms are tinnitus (11%), aural fullness (10%) and hyperacusis (1%). Occipital headache that increases with Valsalva manoeuvres and hand paresthesias are very suggestive symptoms.
CONCLUSIONS
The appearance of audio-vestibular manifestations in CM-I makes it common to refer these patients to neurotologists. Unsteadiness, vertiginous syndromes and sensorineural hearing loss are frequent. Nystagmus, especially horizontal and down-beating, is not rare. It is important for neurotologists to familiarise themselves with CM-I symptoms to be able to consider it in differential diagnosis.
Topics: Adult; Aged; Arnold-Chiari Malformation; Child, Preschool; Female; Headache; Hearing Loss, Sensorineural; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Neuroimaging; Nystagmus, Pathologic; Symptom Assessment; Syringomyelia; Tinnitus; Vertigo
PubMed: 25195076
DOI: 10.1016/j.otorri.2014.05.002 -
Medicine Sep 2016Tumefactive multiple sclerosis (MS) is an unusual variant of demyelinating disease characterized by lesions with pseudotumoral appearance on radiological imaging... (Review)
Review
A challenging diagnosis of late-onset tumefactive multiple sclerosis associated to cervicodorsal syringomyelia: doubtful CT, MRI, and bioptic findings: Case report and literature review.
BACKGROUND
Tumefactive multiple sclerosis (MS) is an unusual variant of demyelinating disease characterized by lesions with pseudotumoral appearance on radiological imaging mimicking other space-occupying lesions, such as neoplasms, infections, and infarction. Especially when the patient's medical history is incompatible with MS, the differential diagnosis between these lesions constitutes a diagnostic challenge often requiring histological investigation. An older age at onset makes distinguishing tumefactive demyelinating lesion (TDL) from tumors even more challenging.
METHODS
We report a case of brain TDL as the initial manifestation of late-onset MS associated with cervico-dorsal syringomyelia. A 66-year-old Caucasian woman with a 15-day history headache was referred to our hospital because of the acute onset of paraphasia. She suffered from noncommunicating syringomyelia associated to basilar impression and she reported a 10-year history of burning dysesthesia of the left side of the chest extended to the internipple line level.
RESULTS
Computed tomography (CT) and magnetic resonance imaging (MRI) examinations revealed a left frontal lesion with features suspicious for a tumor. Given the degree of overlap with other pathologic processes, CT and MRI findings failed to provide an unambiguous diagnosis; furthermore, because of the negative cerebrospinal fluid analysis for oligoclonal bands, the absence of other lesions, and the heightened suspicion of neoplasia, the clinicians opted to perform a stereotactic biopsy. Brain specimen analysis did not exclude the possibility of perilesional reactive gliosis and the patient, receiving anitiedemigen therapy, was monthly followed up. In the meanwhile, the second histological opinion of the brain specimen described the absence of pleomorphic glial cells indicating a tumor. These findings were interpreted as destructive inflammatory demyelinating disease and according to the evolution of MRI lesion burden, MS was diagnosed.
CONCLUSION
TDL still remains a problematic entity clinically, radiologically, and sometimes even pathologically. A staged follow-up is necessary, and in our case, it revealed to be the most important attitude to define the nature of the lesion, confirming the classic MS diagnostic criteria of disseminate lesions in time and space. We discuss our findings according to the recent literature.
Topics: Aged; Demyelinating Diseases; Female; Humans; Magnetic Resonance Imaging; Multiple Sclerosis; Syringomyelia; Tomography, X-Ray Computed
PubMed: 27603348
DOI: 10.1097/MD.0000000000004585 -
European Spine Journal : Official... Nov 2013There are few researches that demonstrate the relationship between the extent of syringomyelia and sagittal alignment of the cervical spine. The purpose of this study is...
PURPOSE
There are few researches that demonstrate the relationship between the extent of syringomyelia and sagittal alignment of the cervical spine. The purpose of this study is to investigate the correlation between the change of syrinx size and cervical alignment.
METHODS
From January 2001 to June 2008, we operated on 207 patients who had syringomyelia. The associated diseases were categorized by Chiari I malformation, tumor, trauma, spinal stenotic lesion, inflammatory disease and idiopathic causes. Thirty patients who had Chiari I malformation associated with syringomyelia and who underwent foramen magnum decompression (FMD), participated in this study. We excluded patients with scoliosis, cervical instrumentation, tumor, trauma, myelomeningocele, hydrocephalus, tethered cord and congenital vertebral anomalies. Lateral radiographs in neutral and magnetic resonance imaging were taken pre- and postoperatively.
RESULTS
Mean follow-up was 6.5 ± 1.5 years (ranged from 4.0 to 9.5 years). The mean pre- and postoperative lordosis angles at C2-C7 were -5.9° ± 1.0° and -10.4° ± 1.0°, respectively (P = 0.001). There was significant correlation between the differences of syrinx width and the cervical lordotic angles before and after surgery (P = 0.016). After FMD, syringomyelia and cervical alignment improved in 28 (93.3%) and 25 (85.18%) of 30 patients, respectively. There was significant correlation between recovery rate by Japanese Orthopaedic Association scores and the difference of the cervical lordotic angles before and after surgery (P = 0.022).
CONCLUSIONS
The present results demonstrate that the decrease of syrinx size by FMD may restore the cervical lordosis. We suggest that the postoperative cervical alignment might be a predictive factor for neurological outcome.
Topics: Adolescent; Adult; Arnold-Chiari Malformation; Cervical Vertebrae; Decompression, Surgical; Female; Foramen Magnum; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Radiography; Syringomyelia; Treatment Outcome; Young Adult
PubMed: 23824287
DOI: 10.1007/s00586-013-2876-4 -
Journal of Veterinary Internal Medicine 2004Occipital bone hypoplasia with foramen magnum obstruction and secondary syringomyelia (SM) is a common condition in the Cavalier King Charles Spaniel (CKCS) that is... (Review)
Review
Occipital bone hypoplasia with foramen magnum obstruction and secondary syringomyelia (SM) is a common condition in the Cavalier King Charles Spaniel (CKCS) that is similar to human Chiari type I malformation. A worldwide family tree of more than 5,500 CKCSs spanning a maximum of 24 generations was established by obtaining pedigree information from 120 dogs diagnosed with SM secondary to occipital bone hypoplasia. The ongoing study showed 6 of 8 great grandparents of all affected dogs could be traced back to 2 female ancestors so that all 8 were descended from one or the other or both. The disease appears to be more severe and have an earlier onset with increased inbreeding, especially when breeding from affected dogs. The family tree of idiopathic epilepsy (IE) appears to be a different subset of the CKCS population, although some overlap was observed. Idiopathic epilepsy is more frequent in lines originating from whole-color dogs. Selection for coat color is believed to have influenced the development of both occipital hypoplasia with secondary SM and IE. In addition, breeding guidelines to reduce the incidence of mitral valve disease have placed further pressures on the gene pool.
Topics: Animals; Arnold-Chiari Malformation; Bone Diseases, Developmental; Dog Diseases; Dogs; Epilepsies, Myoclonic; Female; Male; Occipital Bone; Pedigree; Syringomyelia
PubMed: 15515584
DOI: 10.1892/0891-6640(2004)18<673:ioobhc>2.0.co;2 -
Journal of Veterinary Internal Medicine Jul 2021Persistent fontanelles (PFs) are, in Chihuahuas, almost ubiquitous. Furthermore, Chihuahuas are predisposed to other craniomorphological abnormalities, including...
BACKGROUND
Persistent fontanelles (PFs) are, in Chihuahuas, almost ubiquitous. Furthermore, Chihuahuas are predisposed to other craniomorphological abnormalities, including syringomyelia (SM), ventriculomegaly, and craniocervical junction (CCJ) overcrowding resulting in neural tissue deviation. It is, however, undetermined if PFs are more common in dogs with these structural abnormalities, and their etiology is unknown.
HYPOTHESIS/OBJECTIVES
Persistent fontanelles are more numerous and larger in Chihuahuas with low body weight, older age, SM, dilated fourth ventricle, ventriculomegaly, and CCJ overcrowding.
ANIMALS
Fifty client-owned Chihuahuas.
METHODS
Cross-sectional study evaluating the association of both the number of cranial sutures affected by PFs (NAS) and total fontanelle area (TFA), based on computed tomography with SM, fourth ventricle dilatation, lateral ventricle volume, and extent of neural tissue compression at the CCJ based on magnetic resonance images.
RESULTS
The NASs was higher and TFA larger in dogs with low body weight (NAS: P = .007; 95% confidence interval [CI] = 0.384-0.861; TFA: P = .002; 95% CI = -1.91 to -0.478), larger lateral ventricles (NAS: P ≤ .001; 95% CI = 1.04-1.15; TFA: P ≤ .001; 95% CI = 0.099-0.363), and more severe neural tissue compression at the CCJ (NAS: P ≤ .001; 95% CI = 1.26-2.06; TFA: P = .03; 95% CI = 0.066-1.13). Similarly, dogs with SM (NAS: P = .004; 95% CI = 1.26-3.32; TFA: mean ± SD, 130 ± 217 mm ; P = .05) had higher NAS and larger TFA than did dogs without SM (43.7 ± 61.0 mm ). Age was not associated with NAS (P = .81; 95% CI = 0.989-1.01) or TFA (P = .33; 95% CI = -0.269 to 0.092).
CONCLUSIONS AND CLINICAL IMPORTANCE
Persistent fontanelles are associated with small size, SM, ventriculomegaly, and CCJ overcrowding.
Topics: Animals; Arnold-Chiari Malformation; Cross-Sectional Studies; Dog Diseases; Dogs; Magnetic Resonance Imaging; Syringomyelia
PubMed: 33939205
DOI: 10.1111/jvim.16123 -
Neurology India 2021
Topics: Arnold-Chiari Malformation; Encephalocele; Humans; Magnetic Resonance Imaging; Neuroma, Acoustic; Syringomyelia
PubMed: 34507486
DOI: 10.4103/0028-3886.325326 -
Revista de Neurologia Sep 2016Syringomyelia is defined as a cavity containing cerebrospinal fluid inside the spinal cord.
INTRODUCTION
Syringomyelia is defined as a cavity containing cerebrospinal fluid inside the spinal cord.
AIM
To describe the clinical characteristics of a series of patients with syringomyelia, as well as its diagnosis and treatment.
PATIENTS AND METHODS
We conducted a retrospective descriptive study by reviewing the medical records at our centre.
RESULTS
We reviewed 25 patients diagnosed with syringomyelia. In five cases, the diagnosis was reached casually, and eight of them presented a previous severe pathology (tumour, bone or vascular). Two patients began with hydrocephalus and clinical signs and symptoms of intracranial hypertension and just two of them reported headaches as the only symptom. Four presented progressive scoliosis, two of them as the initial complaint, and required surgery with arthrodesis and the use of a corset, respectively. A notable feature was the earliness of the diagnosis. Most of them only presented a slight loss of strength, with normal somatosensory potentials and electromyogram. Check-ups were carried out with magnetic resonance. Eight patients required a decompressive craniectomy with posterior C1-C2 laminectomy, with drainage of the syringomyelic cavity in four cases. Nine of them required a bypass valve and a ventriculostomy also had to be performed in two of them.
CONCLUSIONS
The presence of syringomyelia is rare in paediatric patients, and is generally associated with malformations in the posterior fossa and a medical history of spinal dysrhaphism. Progressive scoliosis stands out as a possible isolated manifestation. A multidisciplinary approach with regular radiological check-ups and evaluation by paediatric neurology and neurosurgery services are mandatory for its follow-up.
Topics: Child; Headache; Humans; Hydrocephalus; Laminectomy; Retrospective Studies; Syringomyelia
PubMed: 27569564
DOI: No ID Found -
BMJ Open May 2022Chiari I malformation (CM1) is an anatomical abnormality characterised by the cerebellar tonsils descending at least 5 mm below the foramen magnum. CM1 causes...
INTRODUCTION
Chiari I malformation (CM1) is an anatomical abnormality characterised by the cerebellar tonsils descending at least 5 mm below the foramen magnum. CM1 causes obstruction of cerebrospinal fluid (CSF) circulation as well as direct compression on the brainstem, thus causing typical consequences (syringomyelia), and typical clinical features (characteristic headaches and neurological impairment). Surgery is the only available treatment, indicated when symptomatology is present. However, sometimes patients have atypical complaints, which are often suggestive of otolaryngological (ears, nose and throat, ENT) involvement. This may be difficult for a neurosurgeon to explain. Our study aims to investigate the relationship between one of these atypical symptoms, for example, postural instability, in a paediatric population using a Computerised Dynamic Posturography (Equitest, NeuroCom, Clackamas, OR). To our knowledge, there are no previously published studies carried out on children with CM1, using dynamic posturography.
METHODS AND ANALYSIS
Forty-five children aged 6-18 years old presenting with radiologically confirmed CM1 and presenting ENT clinical complaints will be included in the study for a duration of 3 years. As primary endpoint, posturographic results will be described in the population study. Second, posturographic results will be compared between patients with and without indication for surgery. Finally, preoperative and postoperative posturographic results, as well as CSF circulation quality at foramen magnum level, syringomyelia, sleep apnoea syndrome, scoliosis and behaviour will be compared in the operated patient group.
ETHICS AND DISSEMINATION
This protocol received ethical approval from the Clinical Research Delegation of Nancy University Hospital, in accordance with the National Commission on Informatics and Liberties (Commission Nationale de l'Informatique et des Libertés) (protocol number 2019PI256-107). Our data treatment was in accordance with the Methodology of reference Methodology Reference-004 specification for data policy. The study findings will be disseminated via peer-reviewed publications and conference presentations, especially to the Neurosphynx's rare disease healthcare network.
TRIAL REGISTRATION NUMBER
NCT04679792; Pre-results.
Topics: Adolescent; Arnold-Chiari Malformation; Child; Headache; Humans; Magnetic Resonance Imaging; Observational Studies as Topic; Postural Balance; Prospective Studies; Syringomyelia
PubMed: 35551083
DOI: 10.1136/bmjopen-2021-056647 -
Medicine Feb 2019Bronchogenic cysts refer to congenital anomalies derived from the primitive foregut. Spinal bronchogenic cysts are uncommon entities, and those occurring in the... (Review)
Review
RATIONALE
Bronchogenic cysts refer to congenital anomalies derived from the primitive foregut. Spinal bronchogenic cysts are uncommon entities, and those occurring in the intramedullary sites are extremely rare. Bronchogenic cysts involving the foramen magnum region have only been described in 2 cases; however, intramedullary bronchogenic cysts with syringomyelia have not yet been reported.
PATIENT CONCERNS
A 46-year-old woman presented with a 6-month history of pain in the posterior neck region and a 1-month history of numbness in the upper extremities. Neurological examination revealed a loss of sensation in bilateral upper extremities and sensory dissociation. Magnetic resonance imaging (MRI) showed an intramedullary cystic lesion in the foramen magnum region and syringomyelia.
DIAGNOSIS
Histopathological findings were consistent with a bronchogenic cyst.
INTERVENTIONS AND OUTCOMES
A surgical resection of the cystic lesion was performed via a posterior midline approach. Under neurophysiological monitoring, the cyst was punctured, yielding gelatinous liquid. The dorsal part of the cystic wall was removed. One month postoperatively, the symptoms were resolved completely. Three months after operation, MRI showed no recurrence of the cyst and the syringomyelia disappeared.
LESSONS
Intramedullary bronchogenic cysts with syringomyelia are extremely rare. Preoperative identification is challenging and definitive diagnosis depends on histopathological evidence. Timely surgical resection should be highlighted.
Topics: Bronchogenic Cyst; Female; Foramen Magnum; Humans; Middle Aged; Syringomyelia
PubMed: 30702626
DOI: 10.1097/MD.0000000000014353 -
The Journal of Spinal Cord Medicine Jan 2022: Post-traumatic syringomyelia treatment usually focuses on restoring normal cerebrospinal fluid (CSF) flow. Herein, the first-reported case of delayed post-traumatic...
: Post-traumatic syringomyelia treatment usually focuses on restoring normal cerebrospinal fluid (CSF) flow. Herein, the first-reported case of delayed post-traumatic syringomyelia associated with an L2 compression fracture 30 years prior to syringomyelia symptoms that rapidly progressed to the brainstem within 5 months, leading to respiratory and circulatory impairments, is summarized. The improvement in symptoms and significant decrease in size of the syringomyelia/syringobulbia achieved in this patient suggest that the initial treatment of choice in such acute cases should be posterior fossa decompression (PFD). Intradural exploration in order to restore the normal CSF flow at the level of trauma can then be planned in a later time.: A retrospective analysis of clinical manifestations and findings obtained from magnetic resonance (MR) imaging, including pre-operative and post-operative follow-up data acquired 6 months later, provided adequate comparisons of the neurological deficits and syrinx size. Interestingly, serial MR images showed that a cervical syrinx acutely progressed to the brainstem within 5 months. PFD and sectioning of the thick veil completely obstructing the foramen of Magendie resulted in partial resolution of the neurological deficits and syringomyelia regression after surgery.: To our knowledge, this is the first case report to summarize the delayed complications of a spinal cord injury and acute syringomyelia progression to the brainstem in a short period. The symptoms were relieved by an emergency PFD, chosen due to the rapid progression of symptoms. An atypical treatment strategy is described for extremely rare cases, but with a good short-term prognosis.
Topics: Arnold-Chiari Malformation; Decompression, Surgical; Humans; Magnetic Resonance Imaging; Retrospective Studies; Spinal Cord; Spinal Cord Injuries; Syringomyelia; Treatment Outcome
PubMed: 32202488
DOI: 10.1080/10790268.2020.1733336