Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature

We present a rare case of an 8-year-old male with Klippel-Trenaunay syndrome (KTS) and a Chiari I malformation (CIM). Magnetic resonance imaging (MRI) to investigate facial asymmetry and speech delay at age two revealed CIM with cerebellar tonsils 1.3 cm below the foramen magnum without syringomyelia. The patient underwent a craniectomy and posterior fossa decompression with C1 laminectomy. While gene sequencing determined the patient was negative for the PIK3CA gene mutation, the patient’s clinical history strongly suggests KTS. He has hemihypertrophy, leg length discrepancy, hemangiomas and pigmentary mosaicism along the upper and lower extremities, heart murmur, chronic low heart rate, recurrent hip pain, and mild scoliosis. Neurodevelopmental concerns include difficulty reading, attention deficit hyperactivity disorder (ADHD), anxiety, and difficulty running and going downstairs. His most recent MRI shows good decompression at the cervicomedullary junction, global cerebrospinal fluid (CSF) flow, and less peg-like cerebellar tonsils. Also noted were two intravertebral hemangiomas at T5 and T6. While the patient’s speech has improved, there is still difficulty with the expressive language. He still has mild delays, runs slowly, and does not alternate feet when climbing stairs. The patient is being followed by multiple specialists including neurology, hematology-oncology, genetics, orthopedic surgery, and developmental pediatrics.

Soft tissue density within the foramen magnum, a predictor for surgical intervention in pediatric patients with Chiari malformation type I

OBJECTIVEChiari malformation type I (CMI) is diagnosed as herniation of the cerebellar tonsils by at least 5 mm below the foramen magnum. However, the degree of tonsillar herniation is a poor predictor of the need for decompression surgery. Exploration for an alternative morphological predictor for surgical intervention could provide greater insight into the development of an appropriate treatment plan for these patients. To investigate this issue, the authors calculated the soft tissue density within the foramen magnum as a measure of impaction of the cerebellar tonsils. Soft tissue density within the foramen magnum and degree of tonsillar herniation were then assessed for their correlation with the need for surgical intervention.METHODSThe authors conducted a retrospective, longitudinal chart review of pediatric patients with CMI. Those who had undergone surgical intervention were considered symptomatic and those who had been treated conservatively, as asymptomatic. Soft tissue density was found by dividing the soft tissue occupancy of the foramen magnum (brainstem and cerebellar tonsils) by the total area of the bony foramen magnum. The predictive value of these two measurements for the need of surgery was determined.RESULTSOf the 465 patients seen for CMI at the authors’ institution between July 1, 2011, and May 31, 2017, 80 underwent surgical intervention and 385 were asymptomatic. The average tissue density was significantly greater in the surgical group than in the asymptomatic group (83.3% and 78.6%, respectively, p < 0.0001). The average tonsillar descent for surgical patients was 10.8 mm compared to 9.8 mm for asymptomatic patients (p = 0.140). The point-biserial correlation coefficient was assessed, and soft tissue density was found to positively correlate with the need for surgical intervention (rpb = 0.199, p = 0.0001), whereas tonsillar herniation did not correlate with the need for surgery (rpb = 0.083, p = 0.115). Additionally, the degree of tonsillar herniation did not correlate with soft tissue density (r = 0.09), indicating that soft tissue density is an independent morphological parameter.CONCLUSIONSThe study findings suggest that the need for surgical intervention in CMI patients is positively correlated with increasing soft tissue density within the foramen magnum, whereas the degree of tonsillar herniation did not show a correlation with the need for surgical intervention. Additionally, soft tissue density is a factor independent of the degree of tonsillar herniation. Further investigation of tissue density within the foramen magnum is needed in the hope of discovering a clinically applicable parameter that would indicate a need for surgical intervention in patients with CMI.

Cough Syncope, a Rare Presenting Symptom of Chiari I Malformation and Atlanto-Occipital Assimilation

Chiari I malformation and atlanto-occipital assimilation are both fairly uncommon conditions. Symptoms usually present during adolescence or adulthood, typically consisting of headache or neck pain. Cough-associated syncope is an unusual presenting symptom. The diagnosis of this condition in a pulmonology department is even rarer. We report the case of a 62-year-old male referred to our pulmonology department due to complaints of cough-associated syncope. After several examinations, a pharyngeal CT scan incidentally showed low positioning of the cerebellar tonsils. Cerebral MRI confirmed the diagnosis of Chiari I malformation and atlanto-occipital assimilation and the patient was effectively treated with surgical decompression.

Syringobulbia and syringomyelia in a case with Chiari 0 malformation successfully treated by posterior fossa reconstruction

“Chiari zero malformation” is a rare and a relatively new described condition which associates syringohydromyelia without caudal displacement of the cerebellar tonsils through the foramen magnum. We present a case of a 40 years old woman with Chiari zero malformation with both syringomyelia and syringobulbia and a good clinical and radiological outcome after posterior fossa decompression. The presence of associated syringomyelia and syringobulbia in this condition is less frequent and it usually occurs in younger patients. In our case we considered syringobulbia as being an extension of syringomyelia.

Factors predicting the occurrence of syringomyelia in patients with Chiari I malformations

Background: Chiari I malformations are defined as the downward herniation of cerebellar tonsils more than 5 mm through the foramen magnum. Syringomyelia is a common association of Chiari I malformation.Methods: This purpose of this study was to determine the various factors predicting the occurrence of syringomyelia in patients with Chiari I malformations. This retrospective study was conducted in Government medical college, Thrissur, Kerala, India. 27 patients admitted with diagnosis of symptomatic Chiari I malformations during the period of January 2015 to January 2019 were selected for the study.Results: The mean age was 22.8 years and syringomyelia was more common in patients older than 10 years (p value0.005). Females were 17(63%) and males were 10(37%) but there no difference in occurrence of syringomyelia among both sexes(p value is 0.16). Syringomyelia was present in 17(63%) cases. Association between various factors and syringomyelia measured by calculating P value which was 0.005 for age >10 years, 0.16 for sex, 0.093 for duration of symptoms >12 months, 0.05 for tonsillar descend >10mm and 0.097 for hypertension. The p value for the association of duration of symptoms >12months and extend of tonsillar descend is 0.001 Mean duration of symptoms (onset of first symptom to the time of presentation) was 16.3 months and syringomyelia was more common in patients with duration of symptoms more than 12 months but this difference was statistically not significant (p value 0.093). Mean tonsillar descend from the level of foramen magnum was 11.3 mms and syringomyelia was more common in patients with tonsillar herniation more than 10mm (p value 0.05). There is a statistically significant relationship between duration of symptoms more than 12 months and tonsillar descend more than 10mm(p value 0.001).There is no significant association between hypertension and occurrence of syringomyelia in patients with Chiari I malformation.Conclusions: Incidence of Chiari I Malformations is more among adults and it is slightly higher in females. Syringomyelia is a common association of Chiari I Malformations. The occurrence of syringomyelia in patients with Chiari I Malformations associated with increasing age of patients and extend of tonsillar herniation. There is no statistically significant association between syringomyelia and duration of symptoms or hypertension.

Subpial Aspirated Cerebellar Tonsils in Pediatric Chiari I Malformation: anatomopathological study

Introduction: Chiari Malformation (CM) is a condition in which ectopy or herniation of components of the posterior cranial fossa to theforamen magnum are present, and can be divided into four types. Type I (CM-I) occurs when there is protrusion of only the cerebellartonsils into the cervical spinal canal. One of the available therapeutic options is subpial aspiration. Previous anatomopathologicalstudies showed that the main alterations in the aspirated tonsils were the loss of Purkinje cells, Bergmann gliosis, cortical atrophyand neuronal changes due to hypoxia; all of them secondary to the aggression to the nervous tissue over time. These changes leadto gradual loss of function of the tissue, with compensation by other structures. Therefore, when subpial aspiration of the herniatedtonsil is performed in adults, there are no negative consequences to the patient in the future, as concluded by many studies targetingadults with CM. However, studies in children with CM are scarce, which means that we cannot affirm in which age the histologicalchanges occur. Hence, we cannot determine whether or not the surgical removal of this tissue in childhood leads to future losses tothe patient. Objective: To analyze the main histological aspects of cerebellar tonsils in children with Chiari I Malformation whounderwent subpial aspiration, to help clarify the natural history of this pathology, as well as to help determine the prognosis of thispopulation when treated with this technique. Method: We analyzed the histopathology of the tonsils removed with subpial aspirationtechnique, in several hospitals of João Pessoa, Brazil, from children diagnosed with Chiari I malformation. Results: The slides of alltonsils showed the same histological changes: Bergmann gliosis, loss of Purkinje cells, atrophy of the cerebellar cortex and meningealfibrosis. The obtained results were similar to the ones found in previous studies carried out in adults. Conclusion: The cerebellaranatomopathological alterations secondary to Chiari I Malformation, which leads to loss of tissue function, seem to appear early inlife, suggesting the safety of the subpial aspiration in pediatric patients. However, more extensive studies and long-term follow-up ofpatients are needed to establish with more precision the natural history of the disease.

Chiari malformations in adults: their surgical and nursing management

There are two categories of Chiari malformations that occur in adults: type 1 and type 2. Type 1 Chiari malformations are conditions where the bottommost parts of the back of the brain (called the cerebellar tonsils) descend below the skull and enter the spinal canal—the space around the spinal cord. In type 2 Chiari malformations, more of the brain descends below the skull. This means that, as well as the cerebellar tonsils, the lower section of the brainstem (the medulla) and the brain's lowermost fluid-filled cavity, the fourth ventricle, also descend. The descending structures cause pressure and disrupt the normal flow of fluid that circulates in the brain and spinal cord, known as cerebrospinal fluid (CSF). This article further explains the Chiari malformations, presents theories of how they are caused and describes their symptoms and complications. It also discusses Chiari malformations, theories of causation, symptoms, complications, treatment and nursing management considerations.

The surgical procedure of syringomyelie with Chiari I in adults regarding the intrapial aspiration of cerebellar tonsils: does this procedure improve symptoms with less complication?

Introduction. Cranio-vertebral decompression remains the common denominator for the treatment of syringomyelia associated with Chiari I. On the other hand, the details of the procedure, remains controversial. The success of the surgery is to restore the circulation of cerebro-spinal fluid at the level of the foramen magnum. How is this circulation restored to the level of foramen is the question? We offer our attitude towards the treatment of syringomyelia with Chiari I. Material and method. Consecutive series of 32/121 patients benefiting from cranio-vertebral decompression associated with intrapial aspiration of cerebellar tonsils treated for syringomyelia with a Chiari I malformation in adults. Result. Motor deficits were present in 20 / 22 patients, representing 90% of the entire patient group. these motor deficits are improved in 16 out of 22 cases, and remained unchanged in 06cas. no motor aggravation occurred. in our study, bone decompression and intra pial aspiration of cerebellar tonsils (sub arachnoids manipulation) were found to be associated with favourable results on clinical signs and symptoms. However, sub arachnoids manipulation and intra pial aspiration of cerebellar tonsils showed a little more complication compared with bone decompression with dural plasty. Conclusion. The bone decompression with dural graft and intradural dissection of adhesions and reduction by intra pial aspiration or resection of the tonsils is indicated on the MRI aspect of cerebellar tonsils of considerable size totally obstructing the foramen Magnum, the intraoperative finding, through the arachnoid, of the absence of passage of the cerebro-spinal fluid because of the bulging of the cerebellar tonsils.