Abstract
BackgroundWe propose two new concepts, the Filum Disease (FD) and the Neuro-cranio-vertebral syndrome (NCVS), that group together conditions thus far considered idiopathic, such as Arnold-Chiari Syndrome Type I (ACSI), Idiopathic Syringomyelia (ISM), Idiopathic Scoliosis (IS), Basilar Impression (BI), Platybasia (PTB) Retroflexed Odontoid (RO) and Brainstem Kinking (BSK).MethodWe describe the symptomatology, the clinical course and the neurological signs of the new nosological entities as well as the changes visible on imaging studies in a series of 373 patients.ResultsOur series included 72% women with a mean age of 33.66 years; 48% of the patients had an interval from onset to diagnosis longer than 10 years and 64% had a progressive clinical course. The commonest symptoms were: headache 84%, lumbosacral pain 72%, cervical pain 72%, balance alteration 72% and paresthesias 70%. The commonest neurological signs were: altered deep tendon reflexes in upper extremities 86%, altered deep tendon reflexes in lower extremities 82%, altered plantar reflexes 73%, decreased grip strength 70%, altered sensibility to temperature 69%, altered abdominal reflexes 68%, positive Mingazzini’s test 66%, altered sensibility to touch 65% and deviation of the uvula and/or tongue 64%. The imaging features most often seen were: altered position of cerebellar tonsils 93%, low-lying Conus medullaris below the T12L1 disc 88%, idiopathic scoliosis 76%, multiple disc disease 72% and syringomyelic cavities 52%.ConclusionsThis is a paradigm shift that opens up new paths for research and broadens the range of therapeutics available to these patients.
Highlights
We propose two new concepts, the Filum Disease (FD) and the Neuro-cranio-vertebral syndrome (NCVS), that group together conditions far considered idiopathic, such as Arnold-Chiari Syndrome Type I (ACSI), Idiopathic Syringomyelia (ISM), Idiopathic Scoliosis (IS), Basilar Impression (BI), Platybasia (PTB) Retroflexed Odontoid (RO) and Brainstem Kinking (BSK)
Patients generally contact us after having been diagnosed with one or more of these conditions in their home country, because of their interest in our method used for the diagnosis, treatment and follow-up of the Filum Disease and Neuro-Cranio-Vertebral Syndrome, called Filum System® (FS®, presented on https://filumsystem.com/enfermedad-del-filum, https://filumsystem.com/enfermedadesimplicadas/ and https://institutchiaribcn.com) as we are the only center qualified to apply it worldwide, as a highly specialized private center holding the Research & Development (R&D) certification 1583.001.16–160,920-CERRD.001 from the Spanish Innovation Certification Agency (ACIE) and ENAC certification 33/C-PR074, Certificate IQNet and AENOR Quality Management System ISO 9001:2015, Registration Number: ES-0081/2015 for the following fields of activities: Research, Diagnosis and Treatment of the Filum Disease and Quality Management Certification according to UNE-EN ISO 9001:2008 standards
Neurological clinical picture The symptoms detected in more than 10% of analyzed patients and the clinical signs detected through the specific neurological examination are presented in Tables 3 and 4
Summary
We propose two new concepts, the Filum Disease (FD) and the Neuro-cranio-vertebral syndrome (NCVS), that group together conditions far considered idiopathic, such as Arnold-Chiari Syndrome Type I (ACSI), Idiopathic Syringomyelia (ISM), Idiopathic Scoliosis (IS), Basilar Impression (BI), Platybasia (PTB) Retroflexed Odontoid (RO) and Brainstem Kinking (BSK). This paper summarizes and culminates the endeavors of various researchers who have been pursuing so far three convergent lines of research: the tethered cord syndrome; the etiopathogenic relationship between ArnoldChiari Syndrome Type I, Idiopathic Syringomyelia and Idiopathic Scoliosis and other associated pathologies; Even though the first surgical cases of tethered cord release were published already as early as 1857 by Johnson [1] and in 1891 by Jones WL [2], the relationship between tethering of the spinal cord and a certain neurological and spinal symptomatology, i.e. the first concept of tethered cord, was suggested by Fuchs [3] in 1909 in patients with myelomeningocele, as did Lichtenstein [4] later in 1940. The surgical treatment, indicated in 10–20% of cases, consists in the release of the spinal cord that is tethered by the myelo-meningovertebral malformation, via a lumbar laminectomy
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