Tonsillar Ectopia Research Articles

Foramen magnum syndrome after iatrogenic cerebrospinal fluid leak during lumbar spine surgery: A series of two cases

Foramen magnum syndrome (FMS) is a rare complication from lumbar spine surgery. Cerebrospinal fluid (CSF) leaks can be difficult to treat. FMS is a dangerous complication due to excessive distal CSF drainage from a dural tear or secondary to a “controlled” lumbar drainage. We present two cases of FMS after iatrogenic CSF leaks. Both patients underwent decompressive laminectomy as a part of the index surgery. Intraoperative dural tear was not identified in either case. A postoperative computed tomography (CT) myelogram ordered in view of the positional headaches indicated a CSF leak. A lumbar drain was placed, but both the patients worsened symptomatically. CT head in Case 1 indicated tonsillar ectopia within the foramen magnum, while that in Case 2 revealed a posterior fossa hemorrhage with fullness of the foramen magnum and profound hydrocephalus. Both patients were treated surgically. Additional corrective measures were also initiated to reverse the pathology. Both patients made a good recovery with resolution of symptoms. Development of neurological changes in a patient with CSF leak may indicate an acute intracranial process. Treatment of foramen magnum syndrome requires prompt realization of the underlying pathology and measures to cease or modulate the CSF drainage. The dangers of excessive distal CSF drainage, whether it is from a dural tear or from “controlled” lumbar drainage, should be considered.

Clinicoradiological study of adult Chiari malformation type 1 patients with emphasis on cerebrospinal fluid peak flow velocity at foramen magnum level.

The aim of this study was to determine the peak cerebrospinal fluid (CSF) flow velocity at the foramen magnum level in adult patients with Chiari type 1 malformation (CM1) and to determine the changes in velocity after posterior fossa decompression. An attempt was also made to determine whether or not CSF flow velocity can be a significant predictor in patients who need surgical intervention. A prospective longitudinal study was conducted in 32 symptomatic patients of CM1 treated with craniocervical decompression. Only adult patients with age ≥18 years and tonsillar herniation ≥5 mm were included in this study. Clinical and radiological assessment of patients with reference to their CSF flow characteristics was done both preoperatively and after suboccipital decompression. Out of the 32 patients, 30 patients underwent a suboccipital decompression and two patients were treated with a venriculoperitoneal shunt procedure due to gross hydrocephalus. The preoperative mean tonsillar herniation was 10.4 ± 4.64 mm that reduced to 7.35 ± 3.10 mm in the follow up period. Postoperatively, there was also a substantial decrease in the peak CSF velocity at the foramen magnum along with reduction in the extent and size of the syrinx. These changes in CSF velocity correlated with a more normal appearing foramen magnum and an improvement in symptoms. Although the selection criteria for surgery are based mainly on the degree of tonsillar ectopia and presenting symptoms, the degree of CSF flow obstruction rather than the degree of tonsillar herniation can better select patients who are most responsive to surgery. An improved CSF velocity profile following surgery in such patients is a useful guide to anticipate a symptomatic improvement.

The role of lumboperitoneal shunts in managing chronic hydrocephalus with slit ventricles.

OBJECTIVELumboperitoneal (LP) shunts have a role not only in pseudotumor cerebri, but also in patients with slit-like ventricles who are treated with CSF shunting on a chronic basis. Hesitation to utilize LP shunts is based on previous conventional beliefs including the tendency for overdrainage, difficulties accessing the shunt to tap or revise, and risk of progressive cerebellar tonsillar herniation. The authors hypothesized that the use of horizontal-vertical (HV) valves may reduce the risk of these complications, particularly overdrainage and development of Chiari malformation.METHODSAll pediatric cases involving patients treated with an LP shunt at the Children's Hospital of Michigan were reviewed in this retrospective case series. A total of 143 patients with hydrocephalus were treated with LP shunts from 1997-2015 (follow-up range 8 months-8 years, median 4.2 years). Patients with pseudotumor cerebri underwent placement of an LP shunt as a primary procedure. In patients with slit ventricles from chronically treated hydrocephalus or repeated shunt malfunctions from proximal catheter obstruction, a lumbar drain was inserted to assess candidacy for conversion to an LP shunt. In patients who tolerated the lumbar drain and demonstrated communication of the ventricles with the spinal cisterns, treatment was converted to an LP shunt. All patients included in the series had undergone initial shunt placement between birth and age 16 years.RESULTSIn 30% of patients (n = 43), LP shunts were placed as the initial shunt treatment; in 70% (n = 100), treatment was converted to LP shunts from ventriculoperitoneal (VP) shunts. The patients' age at insertion of or conversion to an LP shunt ranged from 1 to 43 years (median 8.5 years). Of the patients with clear pre-LP and post-LP shunt follow-up imaging, none were found to develop an acquired Chiari malformation. In patients with pre-existing tonsillar ectopia, no progression was noted on follow-up MRIs of the brain in these patients after LP shunt insertion. In our LP shunt case series, no patient presented with acute deterioration from shunt malfunction.CONCLUSIONSConversion to an LP shunt may minimize acute deterioration from shunt malfunction and decrease morbidity of repeated procedures in patients with chronically shunt-treated hydrocephalus and small ventricles. In comparison to previously published case series of LP shunt treatment, the use of LP shunts in conjunction with HV valves may decrease the overall risk of cerebellar tonsillar herniation. The use of an LP shunt may be an alternative in the management of slit ventricles when VP shunting repeatedly fails.

Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G\u2009>\u2009A mutation in PIK3CA gene

BackgroundOvergrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which present a wide range of phenotypic variability, are often caused by mosaic somatic mutations in the genes associated with the PI3K/AKT/mTOR cellular pathway, a signaling cascade that plays a key role in cellular growth. Overgrowth syndromes are frequently misdiagnosed. Given that they are also associated to an increased oncologic risk, it is important to distinguish the clinical characteristic of these disorders since the first months of life.Case presentationWe report the case of a seven-year-old male child with macrocephaly and right lateralized overgrowth, reported from birth. The patient arrived to our attention after an initial diagnosis of isolated benign macrocephaly was formulated at the age of 12 months. Afterwards, the child presented a moderate intellectual disability and pain episodes at right lower limb. We repeated a brain Magnetic Resonance Imaging that revealed ventriculomegaly, cerebellar tonsillar ectopia, a markedly thick corpus callosum, and white matter abnormalities. The diagnosis of segmental overgrowth syndrome was formulated according to the clinical presentation and confirmed by the finding of the variant c.2740G > A in the gene PIK3CA presented in somatic mosaicism.ConclusionsOur patient is the first children with the c.2740G > A variant in PIK3CA gene reported in Italy. We underline the importance of the genotype-phenotype correlation in the diagnostic process of overgrowth syndromes and emphasize the strict correlation between the mutation c.2740G > A in the PIK3CA gene and the Megalencephaly-Capillary Malformation syndrome phenotype.

Pyramidal and Proprioceptive Dysfunctions as the Main Neurologic Features In Symptomatic Type I Chiari Malformation Patients

Objective Broader access to magnetic resonance imaging (MRI) has increased the diagnosis of tonsillar ectopia, with most of these patients being asymptomatic. The early diagnosis and treatment of type I Chiari malformation (CM I) patients has impact on the prognosis. This study supplements information about the neurologic exam of symptomatic patients with CM I. Methods The sample was composed of 32 symptomatic patients with CM I diagnosed by a combination of tonsil herniation of more than 5 mm below the magnum foramen (observed in the sagittal T2 MRI) and at least one of the following alterations: intractable occipital headache, ataxia, upper or lower motor neuron impairment, sensitivity deficits (superficial and deep) or lower cranial nerves disorders. Results Occipital headache was the most frequent symptom (53.12%). During the physical exam, the most common dysfunctions were those from the pyramidal system (96.87%), followed by posterior cord syndrome (87.5%). Discussion In this study, patients became symptomatic around the fifth decade of life, which is compatible with previous descriptions. Patients with more than 2 years of evolution have worse responses to treatment. Occipital headache, symptoms in the upper limbs, gait and proprioceptive disorders are common findings in patients with CM I. Conclusion Deep tendinous reflexes and proprioception disorders were the main neurologic features found in symptomatic CM I patients.

Effectiveness of modified dural incision to preserve the patency of the occipital sinus in foramen magnum decompression for a patient with Chiari malformation type I.

Background:Foramen magnum decompression (FMD) has been acknowledged as a standard surgical procedure for symptomatic patients with Chiari malformation type I (CM-I). However, even if dural incision is necessary during FMD, the procedure of cutting off the occipital sinus has not been regarded as a safe option.Case Description:A 27-year-old woman with intractable occipital headache was diagnosed with CM-I without syringomyelia. Preoperative examination revealed a large oblique occipital sinus on her right side. During the first FMD, the dura mater was not incised to preserve the occipital sinus. However, her headache was not relieved with painkillers and cerebellar tonsillar ectopia remained. During the second FMD, two dural incisions were made, while preserving the occipital sinus patency. The dural patch was made using an autologous fascia for both dural incisions. Postoperatively, headache was completely resolved immediately, and cerebellar tonsil was elevated without any complication.Conclusion:This dural incision, which is a modification of the method introduced by Pritz, would be a useful FMD option for patients of CM-I with dominant occipital sinus, which would lead to the serious neurological sequelae if the sinus flow is disturbed.

Brain magnetic resonance imaging findings in children with headache.

The aim was to describe the findings on magnetic resonance imaging (MRI) in children with headache. Retrospective review of the medical records of patients who were admitted to our pediatric outpatient neurology clinics with the complaint of headache between January 2013 and December 2014. A total of 478 patients (273 female, 205 male) were admitted with the complaint of headache. The types of headache were migraine in 218 (45.6%), tension-type in 159 (33.3%), secondary in 39 (8.2%) and unspecified headaches in 62 (13%) patients. Brain MRI was performed in 407 (85%) patients and revealed cerebral abnormalities in 128 (31.4%) patients; 5 patients had cerebral abnormalities relevant with headache, including tumors. Amongst the others 123 patients, the most common findings were 42 cases (10%) of nonspecific white matter abnormalities, 17 cases (4%) of enlarged perivascular spaces, 17 cases (4%) of arachnoid cyst, 16 cases (3.9%) of asymmetric ventricles, 12 cases (2.9%) with Chiari type I and cerebellar tonsillar ectopia. Also, 17 (4.1%) patients had extra-cerebral MRI abnormalities including sinusitis, mucosal thickening and retention cysts of sinuses. In this study, the contribution of brain MRI in the diagnosis and management of the children with headache was still low.

Traumatic Transient Herniation Concomitant with Tonsillar Hemorrhagic Contusion in a Child

Downward displacement of cerebellar tonsils more than 5 mm below the foramen magnum is named as Chiari type I malformation and named benign tonsillar ectopia if herniation is less than 3 mm. It does not just depend on congenital causes. There are also some reasons for acquired Chiari Type 1 and benign tonsillar ectopia/herniation. Trauma is one of them. Trauma may increase tonsillar ectopia or may be the cause of new-onset Chiari type 1. The relationship between the tonsil contusion and its position is unclear. We present a case of pediatric age group with tonsillar herniation with a hemorrhagic contusion. Only 1 case has been presented so far in the literature. A case with unilateral tonsil contusion has not been presented to date. We will discuss the possible reasons for taking the place of the tonsils to the above level of the foramen magnum in the follow-up period, by looking at the literature.

Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2.

Purpose To identify developmental neuroradiologic findings in a large cohort of carriers who have deletion and duplication at 16p11.2 (one of the most common genetic causes of autism spectrum disorder [ASD]) and assess how these features are associated with behavioral and cognitive outcomes. Materials and Methods Seventy-nine carriers of a deletion at 16p11.2 (referred to as deletion carriers; age range, 1-48 years; mean age, 12.3 years; 42 male patients), 79 carriers of a duplication at 16p11.2 (referred to as duplication carriers; age range, 1-63 years; mean age, 24.8 years; 43 male patients), 64 unaffected family members (referred to as familial noncarriers; age range, 1-46 years; mean age, 11.7 years; 31 male participants), and 109 population control participants (age range, 6-64 years; mean age, 25.5 years; 64 male participants) were enrolled in this cross-sectional study. Participants underwent structural magnetic resonance (MR) imaging and completed cognitive and behavioral tests. MR images were reviewed for development-related abnormalities by neuroradiologists. Differences in frequency were assessed with a Fisher exact test corrected for multiple comparisons. Unsupervised machine learning was used to cluster radiologic features and an association between clusters and cognitive and behavioral scores from IQ testing, and parental measures of development were tested by using analysis of covariance. Volumetric analysis with automated segmentation was used to confirm radiologic interpretation. Results For deletion carriers, the most prominent features were dysmorphic and thicker corpora callosa compared with familial noncarriers and population control participants (16%; P < .001 and P < .001, respectively) and a greater likelihood of cerebellar tonsillar ectopia (30.7%; P < .002 and P < .001, respectively) and Chiari I malformations (9.3%; P < .299 and P < .002, respectively). For duplication carriers, the most salient findings compared with familial noncarriers and population control participants were reciprocally thinner corpora callosa (18.6%; P < .003 and P < .001, respectively), decreased white matter volume (22.9%; P < .001, and P < .001, respectively), and increased ventricular volume (24.3%; P < .001 and P < .001, respectively). By comparing cognitive assessments to imaging findings, the presence of any imaging feature associated with deletion carriers indicated worse daily living, communication, and social skills compared with deletion carriers without any radiologic abnormalities (P < .005, P < .002, and P < .004, respectively). For the duplication carriers, presence of decreased white matter, callosal volume, and/or increased ventricle size was associated with decreased full-scale and verbal IQ scores compared with duplication carriers without these findings (P < .007 and P < .004, respectively). Conclusion In two genetically related cohorts at high risk for ASD, reciprocal neuroanatomic abnormalities were found and determined to be associated with cognitive and behavioral impairments. © RSNA, 2017 Online supplemental material is available for this article.

Arnold Chiari Malformation - A hospital based autopsy study

In Arnold Chiari II malformation the cerebellar tonsils are displaced inferiorly through the Foramen Magnum into the upper cervical spinal canal. It is a complex anomaly with skull, dura, brain, spine and cord manifestations. This study was conducted on 400 fetuses obtained from department of Obstetrics and Gynaecology, Government Medical College and Hospital, Chandigarh. Arnold Chiari malformation was noted in 10 out of 300 (3.33%) fetal autopsy cases. All cases were associated with meningomylocele. In our study we found that 7 cases were showing cerebellar tonsilla rectopia and 3case of type II. Arnold Chiari Malformations can be prevented by preconceptional folic acid and Vitamin B 12 supplementation.

Diffusion tensor imaging findings of the brainstem in subjects with tonsillar ectopia.

We aimed to evaluate the differences between apparent diffusion coefficient (ADC), fractional anisotropy (FA), axial diffusivity (AD), and radial diffusivity (RD) values obtained from different cranial sites in subjects with Chiari I Malformation (CM-I) and borderline tonsillar ectopia (BTE), and to determine correlations between diffusion tensor imaging (DTI) metrics and the severity of tonsillar ectopia. A total of 73 subjects with CM-I and BTE and 35 control underwent MRI and DTI. In our study, ADC values measured from the level of medulla oblongata and the RD values measured in middle cerebellar peduncles, thalamus, and globus pallidus were higher in CM-I patients than in controls. FA values at the medulla oblongata level and AD values at the medulla oblongata and pons level higher in patients with CM-I. ADC and AD values measured at the pons level were higher in BTE subjects than in controls. Compared with BTE, the CM-I subjects' ADC values at the medulla oblongata and AD values at the pons level were higher. In addition, FAs at the pons and medulla oblongata level were higher. At the medulla oblongata level, a positive correlation was observed between ADC and the size of tonsillar ectopia. AD and FA values measured at the level of medulla oblongata and pons were positively correlated with the size of tonsillar ectopia. These findings may be related to the severity of microstructural changes involving neuronal tracts at the brainstem level due to tonsillar ectopia. DTI may be useful in determining the extent of microstructural changes at the tissue level in subjects with tonsillar ectopia.

Otto Mennicke (1876–) and the first description of skull base anomalies causing cerebellar tonsillar ectopia: one of the first mentions of the Chiari I malformation

Although Hans Chiari made significant and meaningful contributions to our understanding and classification of hindbrain herniations, others have also contributed to this knowledge. One figure who has been lost to history is Otto Mennicke. Herein, we discuss his role in our understanding of tonsillar ectopia and his life and connection to Hans Chiari. Our knowledge of what is now known as the Chiari malformations has been shaped by several clinicians including Otto Mennicke.

Application of endoscopic third ventriculostomy for treating hydrocephalus-correlated Chiari type I malformation in a single Chinese neurosurgery centre

The correlation between hydrocephalus and Chiari type I malformation (CIM) has been debated since Chiari’s first descriptions of CIM but some studies have shown that CIM and hydrocephalus (HCP) could cause symptoms/disease of each other or vice versa. Recent research has found that treatment focused on hydrocephalus with ventricle enlargement also provides alleviation of CIM and even of syringomyelia. However, the lack of consensus among previous studies left unanswered the question of how endoscopic third ventriculostomy (ETV) addresses CIM and why it fails. Ten symptomatic hydrocephalic patients associated with CIM underwent ETV from October 2002 to May 2012. The clinical features and neuroimaging of all patients were reviewed. Statistical analysis was applied to evaluate the changes in the tonsillar ectopia and the ventricle dilation after operation. The mean follow-up period of this series was 92 months (range 24–163 months). Eight patients (80%) remained shunt free or experienced symptom relief following ETV. The remaining two patients were identified as failures due to the deterioration of symptoms or subsequent hindbrain decompression. Endoscopic third ventriculostomy provides an effective treatment for hydrocephalus associated with CIM, which can relieve HCP and improve the symptoms of CIM in most patients. The clinical outcomes are related to the major cause of the tonsillar herniation.

The association between the pulse pressure gradient at the cranio-cervical junction derived from phase-contrast magnetic resonance imaging and invasively measured pulsatile intracranial pressure in symptomatic patients with Chiari malformation type 1.

In symptomatic Chiari malformation type 1 (CMI), impaired intracranial compliance (ICC) is associated with an increased cranio-spinal pulsatile pressure gradient. Phase-contrast magnetic resonance imaging (MRI) represents a non-invasive modality for the assessment of the pulse pressure gradient at the cranio-cervical junction (CCJ). We wished to explore how the MRI-derived pulse pressure gradient (MRI-dP) compares with invasively measured pulsatile intracranial pressure (ICP) in CMI, and with healthy controls. From phase-contrast MRI of CMI patients and healthy controls, we computed cerebrospinal fluid (CSF) flow velocities and MRI-dP at the CCJ. We assessed bidirectional flow and compared the flow between the anterior and the posterior subarachnoid space at the CCJ. We computed total intracranial volume (ICV), ventricular CSF volume (VV), and posterior cranial fossa volume (PCFV). We analyzed the static and pulsatile ICP scores from overnight monitoring in CMI patients. Five CMI patients and four healthy subjects were included. The CMI group had a significantly larger extent of tonsillar ectopia, smaller PCFV, and a smaller area of CSF in the FM. The pulsatile ICP (mean ICP wave amplitude, MWA) was abnormally increased in 4/5 CMI patients and correlated positively with MRI-dP. However, the MRI-dP as well as the CSF flow velocities did not differ significantly between CMI and healthy subjects. Moreover, bidirectional flow was observed in both CMI as well as healthy subjects, with no significant difference. In symptomatic CMI patients, we found a significant association between the pulse pressure gradient at the CCJ derived from phase-contrast MRI and the pulsatile ICP (MWA) measured invasively. However, the MRI-dP was close to identical in CMI patients and healthy subjects. Moreover, the CSF flow velocities at the CCJ and the occurrence of bidirectional flow were not different in CMI patients and healthy individuals. Further studies are required to determine the diagnostic role of phase-contrast MRI in CMI patients.

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

Chromosome 16p11.2 deletions and duplications are among the most frequent genetic etiologies of autism spectrum disorder (ASD) and other neurodevelopmental disorders, but detailed descriptions of their neurologic phenotypes have not yet been completed. We utilized standardized examination and history methods to characterize a neurologic phenotype in 136 carriers of 16p11.2 deletion and 110 carriers of 16p11.2 duplication-the largest cohort to date of uniformly and comprehensively characterized individuals with the same 16p copy number variants (CNVs). The 16p11.2 deletion neurologic phenotype is characterized by highly prevalent speech articulation abnormalities, limb and trunk hypotonia with hyporeflexia, abnormalities of agility, sacral dimples, seizures/epilepsy, large head size/macrocephaly, and Chiari I/cerebellar tonsillar ectopia. Speech articulation abnormalities, hypotonia, abnormal agility, sacral dimples, and seizures/epilepsy are also seen in duplication carriers, along with more prominent hyperreflexia; less, though still prevalent, hyporeflexia; highly prevalent action tremor; small head size/microcephaly; and cerebral white matter/corpus callosum abnormalities and ventricular enlargement. The neurologic phenotypes of these reciprocal 16p11.2 CNVs include both shared and distinct features. Reciprocal phenotypic characteristics of predominant hypo- versus hyperreflexia and macro- versus microcephaly may reflect opposite neurobiological abnormalities with converging effects causing the functional impairments shared between 16p11.2 deletion and duplication carriers (i.e., abnormal motor agility and articulation). While the phenotypes exhibit overlap with other genetically-caused neurodevelopmental disorders, clinicians should be aware of the more striking features-such as the speech and motor impairments, growth abnormalities, tremor, and sacral dimples-when evaluating individuals with developmental delay, intellectual disability, ASD, and/or language disorders. © 2016 Wiley Periodicals, Inc.

Sagittal MRI often overestimates the degree of cerebellar tonsillar ectopia: a potential for misdiagnosis of the Chiari I malformation.

We hypothesized that by using coronal MRI, Chiari I malformation could be more precisely diagnosed, would provide simple anatomic landmarks, would provide information regarding asymmetry of hindbrain herniation, and would be a better method for analyzing the tonsillar herniation postoperatively when the opisthion has been removed. Fifty consecutive pediatric patients diagnosed with Chiari I malformation had comparison between the measurements of their caudally descended cerebellar tonsils on midsagittal and coronal MRI images. On MRI coronal imaging, tonsillar asymmetry was found in 48 patients. Maximal left tonsillar descent was 20.9mm, and maximal right tonsillar descent was 17.4mm. On MRI sagittal imaging, tonsillar descent ranged from 5 to 27.4mm. Fifty-eight% of patients had syringomyelia. Five patients (10%) on coronal MRI were found to have both cerebellar tonsils that were less than 3mm below the foramen magnum. However, all of these patients had greater than 3mm of tonsillar ectopia on sagittal imaging. Nineteen patients (38%) on coronal MRI were found to have one of the cerebellar tonsils that were less than 3mm below the foramen magnum. Similarly, each of these had greater than 3mm of tonsillar ecotpia as measured on midsagittal MRI. Also, based on these findings, Chiari I malformation is almost always an asymmetrical tonsillar ectopia. Sagittal MRI overestimates the degree of tonsillar ectopia in patients with Chiari I malformation. Misdiagnosis may occur if sagittal imaging alone is used. The cerebellar tonsils are paramedian structures, and this should be kept in mind when interpreting midline sagittal MRI.

Comment on: "sagittal MRI often overestimates the degree of cerebellar tonsillar ectopia: a potential for misdiagnosis of the Chiari I malformation", by R. Shane Tubbs et al.

Comment on: "sagittal MRI often overestimates the degree of cerebellar tonsillar ectopia: a potential for misdiagnosis of the Chiari I malformation", by R. Shane Tubbs et al.

Anatomical Origin of Abnormal Somatosensory-Evoked Potential (SEP) in Adolescent Idiopathic Scoliosis With Different Curve Severity and Correlation With Cerebellar Tonsillar Level Determined by MRI.

A prospective cohort study. The aim of this study was to compare the somatosensory-evoked potential (SEP) findings of adolescent idiopathic scoliosis (AIS) subjects of different curve severity with age- and gender-matched controls and to evaluate any correlation between the site of the SEP abnormality with cerebellar tonsillar level measured by magnetic resonance imaging (MRI). Our previous studies showed that a higher percentage of SEP abnormality and cerebellar tonsillar ectopia was present in AIS patients than in normal controls. However, the relationship between the anatomical site of the neurophysiological abnormality and the severity in AIS patients has not been defined. SEP measurement was conducted on 91 Chinese AIS girls with major right thoracic curve of different curve severity (mild, moderate, severe) and 49 matched normal controls. Waveform characteristics (latency and amplitude) were compared among groups. Specific location of SEP abnormality was identified from tibial to cortical levels. Cerebellar tonsillar ectopia was defined by the previously established reference line between basion and opisthion on MRI. Significant prolonged P37 latency was found on the right side between severe AIS patients and normal controls, while increased inter-side P37 latency difference was found between severe versus moderate, and severe versus normal controls. Cerebellar tonsillar ectopia was detected in 27.3% of severe group, 5.8% to 6.7% in mild and moderate group, but none in normal controls. Abnormal SEP occurred superior to C5 region in all surgical (severe) patients, of whom 58% had cerebellar tonsillar ectopia. AIS patients showed significant prolonged latency and increased latency difference on the side of major curvature. The incidence of SEP abnormality increased with curve severity and occurred above the C5 level. The findings suggested that there was a subgroup of progressive AIS with subclinical neurophysiological dysfunction, associated with underlying neuromorphological abnormalities, which were only detectable by SEP and MRI. 3.

Radiological Features of Scoliosis in Chiari I Malformation Without Syringomyelia.

A retrospective radiographic analysis. The aim of this study was to investigate the scoliosis curve patterns/features and magnetic resonance imaging (MRI) tonsillar ectopia characteristics in Chiari I malformation without syringomyelia (CMI-only). The development of scoliosis associated with a CMI typically has been ascribed to the presence of syringomyelia. However, a subset of CMI patients with scoliosis may not have a concomitant syrinx. Scoliosis in these patients has been very poorly documented in the literature. A retrospective study was conducted on patients with a scoliosis secondary to CMI-only. The curve direction, curve pattern/features, and side of the dominant tonsillar ectopia were recorded and assessed quantitatively. On the basis of the measurement results, associations between the scoliosis curve patterns/features and MRI tonsillar ectopia characteristics were analyzed. A total of 26 patients, consisting of seven males and 19 females with an average age of 15.4 years, were included in the current study. In 19 patients with asymmetrically displaced tonsils, the concordance between the dominant side of the asymmetrically displaced tonsils and curve direction was 78.9%. A statistically significant association was found between the dominant side of the tonsillar ectopia and the convex side of scoliosis according to Fisher exact test (P = 0.045). In addition, it was noted that there was a high incidence (52.9%) of atypical curve patterns in CMI-only patients. A significantly high incidence of atypical features with a superior shift of either the apical or the end vertebrae was found in 85.7% of thoracic curves and 40% of lumbar curves. Scoliosis associated with CMI-only was found to have atypical curve patterns in all cases, and the direction of scoliosis was highly consistent with the dominant side of asymmetrically tonsillar herniation. These findings should be considered as an argument in favor of a nonidiopathic etiology and lead to more evidence that simple tonsillar impaction can provide enough impetus to produce or exaggerate scoliotic curvature. 3.

Chiari 0 Malformation With Multiple Café Au Lait Spots

Chiari type 0 malformation (CM-0), first introduced in 1998, is a new subtype of Chiari malformation with no signs of tonsillar ectopia. We present a case of CM-0 with multiple cafe au lait spots. This case presentation could indicate the possibility of an unrecognized correlation in the pathogenesis of CM-0 and formation of cafe au lait spots (isolated or as features of Legius syndrome/neurofibromatosis type 1).