I had the opportunity to attend the Chiari and Syringomyelia Conference in Los Angeles, CA July 24-27, 2013, sponsored by the American Syringomyelia & Chiari Alliance Project, Inc. (ASAP). I was hoping to gain some information specifically for our M-CM population on treatment options. As many of you may know, the chiari malformation in M-CM is actually an acquired chiari like malformation due to brain overgrowth vs. conventional chiari malformations caused by a congenital defect of some sort. The speakers consisted of 7 pediatric neurosurgeons and 6 adult neurosurgeons from around the nation. There were also radiologists, geneticist, pain physician, dietitian, psychologist, and mechanical engineer speakers.
Dr. Timothy George pediatric neurosurgeon from Dell Children’s Hospital spoke on Embryonic Development of the nervous system in relation to Chiari Malformation and Syringomyelia. In general he discussed the different types of Chiari 0, 1, 1.5, 2, 3, 4, and HPF. Each of these are a bit different on the MRI. 0-1 and 1.5 are very similar, and 2-4 are often linked to Spina Bifida. He showed a list of genes that are involved in hind brain development (about 15 of them). I didn’t see PIK3CA on the list but of course wouldn’t expect as M-CM is an acquired malformation. This physician was advocating for getting rid of the chiari numbers and naming them based on the suspected cause of the malformation to prevent confusion and choose appropriate treatments.
Dr. Eric Lock PhD from Duke University genetics lab discussed Genetic Dissection of Chiari Type 1 Malformation. Unlike M-CM, conventional chiari 1 malformation clusters in families. I met several families where parents and multiple children have chiari and all have required decompression surgeries. They are studying families and believe they have found a gene RSPH3 as a candidate found in these patients.
Dr. Robert Keating Director of pediatric neurosurgery at children’s national medical center in Washington DC discussed the Natural History of Incidental Chiari. He gave the definition of chiari as > 5 mm of cerebellar tonsils below the foramen. He listed associated conditions including autism, ADHD, hydrocephalus, and Ehlers-Danlos syndrome (a connective tissue disorder). M-CM was not on the list. He discussed the incidence, reasons for surgery and clinical outcomes. The main reasons for surgery were development of symptoms, worsening tonsillar descent, syrinx, and other (which included hydrocephalus and behavior). The symptoms discussed were 6th nerve palsy, aspiration, ataxia, bowel/bladder dysfunction, bulbar symptoms, central sleep apnea, decreased motor coordination, drooling, extremity weakness, gait problems, hydrocephalus, hyper-reflexia, increased tone, intracranial pressure, neck pain, night time cough, nystagmus, oculomotor, paresthesia radiographic worsening, scoliosis, snoring swallowing difficulties and syrinx.
Dr. Linetsky department of radiology at UCLA reviewed the films and diagnosis of Chiari via MRI, CT etc. He mentioned CSF flow studies may not show a significant obstructions but patients often still exhibit symptoms of significant obstruction. He mentioned that pituitary issues and growth hormone deficiency is common in chiari.
Dr. Hal Retake from the Chiari Institute in New York discussed Chiari malformation vs. Chiari anomaly. Chiari malformation being the congenital version and anomaly being acquired or similar in symptoms but not the traditional definition of chiari. He showed the surgical procedure recommended by him and other neurosurgeons at the conference. They open the dura, reduce the tonsils, create an opening into the 4th ventricle, place a dural patch and place a titanium plate to hold up the cerebellum and keep the muscles from pressing against and attaching to the dural patch. He mentioned that in his practice they have seen children that have had diagnosed autism that actually had their behaviors go away and started speaking after chiari decompression surgery making them think that the patients never had autism but just exhibited autism like behaviors due to pain associated with chiari. The goal of the surgery is to create a cisterna magna (an area of CSF around the cerebellum as a cushion).
I asked the question during the question period: what symptoms would you consider chiari decompression surgery in young children or children with developmental delay that may not be able to communicate as the main symptom for adults and children were headache with coughing and neck pain? The following symptoms were given to me:
If there is a syrinx present on MRI, that was a immediate surgical intervention reason as persistent syrinx can cause permanent spinal cord damage and many are resolved with chiari decompression surgery.
Gagging, swallowing problems, drooling, speech delays, oral defensiveness (especially to texture), snoring, clumsiness, sleep apnea, stridor, cardiac arrhythmias, excessive sweating, hearing and visual issues.
Dr. John Heiss from the NIH discussed those that would most benefit from surgical treatment. Symptoms included headache at rest, headache with cough, pain in abnormal areas, subjective weakness, sensory loss by history, impaired ambulation, increased pain with cough, weakness by exam, atrophy, spasticity, ataxia, sensory loss by exam. Benefits being, relief of headache, improvement in brainstem symptoms such as swallowing and central sleep apnea, improvement in cerebellar symptoms ie. balance issues, spinal cord function, weakness, loss of sensation and chronic pain.
Dr. Bermans Iskandar director pediatric neurosurgery from university of Wisconsin discussed the research started by ASAP re: pediatric multicenter trial of chiari surgical techniques ie. Just laminectomy/ crainiotomy, laminectomy/crainiotomy with duroplasty, laminectomy/ crainiotomy with duroplasty and reduction of tonsils and the outcomes of all. This will hopefully help to determine the most effective intervention for chiari.
Dr. Jorge Lazareff, pediatric neurosurgery at UCLA recently retired, discussed shared decisions between patient, family and physician. I was very impressed by his attitude in involving the parents. Having met quite a few patients with children with chiari, finding a diagnosis, a neurosurgeon to treat them and listen to them seems quite similar to the issues that many of our families with M-CM face. I asked him after his presentation what would he do with a child that was unable to express symptoms and he told me, “you ask the mom”.
Dr. Cormac Maher from University of Michigan spoke on chiari and scoliosis. He stated that those patients with less severe scoliosis do better with posterior fossa decompression surgeries. Syringomyelia can occur independently from Chiari. Patients with Syringomyelia and syringomyelia with chiari are more likely to develop scoliosis that will require surgical intervention.
Dr. Arnold Menezes from department of neurosurgery at University of Iowa discussed cranial nerve issues with chiari and Syringomyelia may cause temperature regulation problems and many have increased sweating. Also mentioned that when doing chiari decompression surgeries in children with cardiac arrythmias that it may be in best interests to place a temporary pacemaker as it may be difficult to manage when the patient is lying on his/her stomach for the chiari surgery.
Dr. Gerald Grant discussed diagnosis of pseudotumor. I had a one on one discussion with him, he was one of the few that was familiar with M-CM. He stated that great care needs to be taken with decompression in M-CM due to the large head size and the neck musculature as well as vascular issues in these kids.
Dr Farbod Asgarzadie MD from Loma Linda discussed Patients with Chiari are more likely to have central sleep apnea (not obstructive sleep apnea) that will often resolve with Chiari decompression surgery.
Dr. Lam from University of Chicago discussed Children with Chiari Malformation are more likely to be obese than the general population.
Bryn Martin Phd discussed a study on CSF flow ongoing at the University of Akron in Ohio at the Conquer Chiari Research Center. They have created a model to study CSF flow in chiari patients and will be using relatively new 4 D MRI technology (current MRI’s are only 2 D).
Other key things I learned as a result of the conference:
There are many different types of Chiari malformations, the differences depend on radiographic differences. The primary definition of a Chiari 1 is cerebellar tonsils that are 5 mm below foramen magnum, but they still may operate if there are symptoms and this criteria is not met. The distance below the foramen magnum may also change with age. There is evidence that the tonsils are lower in the 2nd and 3rd decade of life and there should be age specific norms established.
Pain is a major issue for traditional Chiari and syringomyelia patients years after chiari decompression surgery. I have not noticed that as an issue in our kids/families with M-CM. Have others noticed that this is a significant issue after the immediate postoperative period? Because of these issues many lectures on lifestyle, pain management, and meditation were at this conference.
I realize many of our children have many of the symptoms of Chiari malformation. In my mind, knowing when and if surgical intervention is necessary is an essential question that needs to be researched. The group of neurosurgeons presenting at this conference had significant experience in traditional chiari decompression surgery. I also had the opportunity to speak with many of the neurosurgeons re: their experience with children with M-CM and educate quite a few on what it is. Feel free to contact me if you would like more specifics. The agenda and speakers can be found on the ASAP website.