In the group of 10 patients with NCVS-EDS, 3 separate categories are described, and each category is represented by the patients detailed below. Patients 1, 2 and 10 are patients of more advanced age that have undergone surgery. Patients 4, 5, 6 and 7 are middle-aged and half of them have undergone surgery. Patients 3, 8 and 9 are the youngest, all with cervical hypermobility and none were operated.
Patient 1
60-year-old female with a history of multiple surgical procedures, reported parietal and frontal headache, nausea and vomiting, blurred vision, photophobia, scotoma, sonophobia, tinnitus, dizziness, mixed dysphagia, cognitive impairment (speech, concentration and memory disturbances), mood swings (nervousness, irritability, apathy and depression), general tiredness. She also reported cervical pain radiating to the shoulders and upper extremities, numbness, paraesthesia and a sensation of loss of strength in the upper extremities, upper back pain with blockage episodes, pain in the sternal region, dyspnoea, lower back pain, pain and lack of strength in the lower extremities, and impaired gait.
The physical examination detected a scoliotic attitude, pain with pressure applied to the cervical region and a bilaterally positive quadriceps paresis test, tactile hypoaesthesia in the head, upper extremities and foot soles, decreased deep tendon reflexes in upper extremities and mixed in lower extremities, slow abdominal and plantar reflexes, and a positive Romberg test.
Magnetic resonance imaging showed a slight descent of the cerebellar tonsils, multiple diseased discs and conus medullaris at the level of the middle third of the L1 vertebra. The X-ray images of the entire spine revealed a mild dextroconvex thoraco-lumbar scoliosis with 5º Cobb angle. The imaging of patient 1 is illustrated in Fig. 1.
Figure 1. Imaging of patient 1. Mild descent of the cerebellar tonsils, multiple disc disease, straightening of the cervical spine, conus medullaris at the middle third of L1, and mild deviation of the vertebral column.
Sectioning of the Filum terminale, with postoperative evaluation 52 days after surgery Improvement/disappearance of almost all the mentioned symptoms, except: the sensation of numbness, paraesthesia, sensation of loss of strength in the upper extremities, and lower back pain. On physical examination, cervicalgia and quadriceps paresis had disappeared, and tactile hypoaesthesia, Romberg test and deep tendon reflexes had partially improved.
Patient 2
64-year-old female with a medical history of suboccipital craniectomy. She reported headaches, nausea, vomiting, dizziness, dysphagia, blurred and double vision, sonophobia, speech, memory and attention disturbances, depressive state, and onset of insomnia. Also, cervicalgia radiating to the back, pain, numbness, tingling and paraesthesia in the upper extremities, dropping objects from her grip, upper and lower back pain, burning sensation, pain and paraesthesia in the lower extremities, urinary and faecal incontinence, loss of genital and anal sensation, constipation, and gait difficulties, with falls.
The physical examination revealed nystagmus, low left soft palate, pain with pressure on cervical and thoracic region, and lower extremities. Tactile and thermal hypoaesthesia and hyperaesthesia. Altered deep tendon reflexes, absence of abdominal reflexes and flexor tendency in plantar reflexes, and gait difficulty.
The MRI showed descent of the cerebellar tonsils, increased supracerebral space, and micro lacunae in the bilateral white matter and the left basal ganglia. Upper cervical kyphosis and straightening in the lower levels. Surgical arthrodesis at C4-C5 and C5-C6. Cervical, thoracic and lumbar protrusions. Ischemia and oedema in the cervical and thoracic spinal cord. Slight cervical rotoscoliosis. Disc protrusions: T7-8, T11-L1, L2-L3-L4 and disc herniation L4-L5. Loss of the lumbar lordosis. Conus medullaris at the level of the middle third of the L1 vertebra. The x-ray images of the entire spine showed levoconvex thoracolumbar scoliosis of 21º. Dysmetria of the lower extremities with shortening of the right lower extremity by 10 mm with respect to the level of the hip and 99 mm at the level of the iliac crests. 16º cervical lordosis, 49º thoracic kyphosis, 59º lumbar lordosis. The imaging of patient 2 is illustrated in Fig. 2.
Figure 2. Imaging of patient 2. Image suggestive of medullar ischemia. Impaction of the cerebellar tonsils, straightening of the cervical spine. Straightening of the upper part of the lumbar spine, conus medullaris in the upper third of L1. Brain MRI with micro lacunae in the white matter.
Sectioning of Filum terminale, with postoperative evaluation 120 days after surgery
Improvement/disappearance of almost all the mentioned symptoms, except nausea, mixed dysphagia, speech disturbance, insomnia, pain and paraesthesia in the lower extremities, urinary and faecal incontinence, loss of genital and anal sensitivity and constipation. On physical examination, nystagmus, pain upon pressure on tender points (cervical and thoracic region, and lower legs), hypoaesthesia and hyperaesthesia to touch, and gait difficulty had disappeared. Tactile hypoaesthesia had partially improved. The other signs remained unchanged: soft palate, thermal hyperaesthesia, altered deep tendon, abdominal and plantar reflexes.
Patient 3
A 35-year-old female with multiple medical-surgical antecedents, among which the diagnoses cranio-cervical and atlantoaxial instability stand out, as well as fibromyalgia, chronic fatigue syndrome and multiple chemical sensitivity. She complains of periocular and occipital headache, with relief in decubitus, paraesthesia, itching and tension in the face, absence seizures, nausea, vomiting, subjective vertigo, dysphagia, blurred vision with black dots, feeling of pressure in the ears and temporary hearing loss, tinnitus, cognitive impairment (impaired speech, memory and attention), irritability, mixed insomnia and possible apnoea. She also reported suffering from cervicalgia, paraesthesia and lack of strength in all extremities, lower back pain, urinary incontinence, diarrhoea, constipation, lack of ability to walk, global hyperhidrosis, cold body and lack of sensation to temperature.
The objective examination detected descent of the left soft palate, decreased grip strength in the right hand, brisk deep tendon reflexes, absent left abdominal reflexes, slow plantar reflexes, extensive alterations in thermal and tactile sensitivity, positive Mingazzini and Barré tests, orthostatism and gait were impossible.
The cranio-vertebral magnetic resonance showed empty sella turcica, discrete descent of the cerebellar tonsils, C4-C5-C6 disc protrusions and cervical hypermobility with a tense medullary aspect in flexion in the incorporated dynamic test, the conus medullaris at the height of the TH12-L1 disc (Fig. 3). No scoliosis on full spine x-rays. The patient was not operated on. Cases 8 and 9 are very similar and previously diagnosed with cranio-cervical and atlantoaxial instability. The patient uses a cervical collar as she is afraid that she might suffer spontaneous cervical luxation.
Figure 3. Imaging of patient 3. Empty sella turcica, discrete descent of the cerebellar tonsils. C4-C5-C6 protrusions and tense spinal cord in cervical flexion.
Patient 4
46-year-old female with various traumatic antecedents, diagnosed with fibromyalgia and cranio-cervical and atlantoaxial instability, reported: headache, feeling of heaviness of the head, nausea, vomiting, instability, orthostatic intolerance, objective vertigo, mixed dysphagia, dysphonia, aphonia, blurred vision, photophobia, sonophobia, hearing loss, impaired speech, memory, and attention. Maintenance insomnia, general tiredness, and muscle spasms. Cervicalgia, hypermobile shoulders, feelings of tension, pain, paresis, and paraesthesia in the upper extremities. Back pain, stiffness, palpitations in orthostatism. Lower back pain, pain and numbness in the sacral area, paraesthesia, and numbness in the lower extremities. Incontinence, urinary urgency, and constipation. Gait limited by intolerance of orthostatism.
The physical examination revealed: anisocoria, deeper waist fold on both sides, quadriceps paresis, and pain upon pressure in the calf. Hyperaesthesia to temperature and hypoaesthesia to temperature and touch. Alteration of the deep tendon reflexes, abdominal reflexes were abolished, and the plantar reflexes had flexor tendency.
The MRI shows descent of the cerebellar tonsils, increased supracerebral space and postsurgical repercussions of the sphenoid sinus in the right half. Empty sella turcica. Micro lacunae bilaterally in hemispheres, basal ganglia and white matter. Straightening of the cervical spine. Cervical spinal cord with tense aspect and inferior lateral displacement, the thoracic portion appears tense with slight ischemia and oedema. Protrusions: C3-C4, C5-C6-C7, T7-T8 and L3-S1. Lumbar hyperlordosis. Sacrococcygeal hyperkyphosis. Ischemia and oedema in epiconus. Low conus medullaris at the level of the upper third of L2 vertebral body. Tarlov cyst at S2 (left). Proximal filum terminale externum visible. Levoconvex lumbar scoliosis on the spine x-ray estimated at 6º, dextroconvex cervical and thoracic scoliosis estimated at 4º. The imaging of patient 4 is illustrated in Fig. 4.
Figure 4. Imaging of patient 4. Cranial MRI with visible descent of the cerebellar tonsils in the foramen magnum, cervical MRI with straightening of the cervical spine, cervical multiple disc disease. Lumbar MRI with conus medullaris at the upper third of L2.
Patient 5
46-year-old female with a medical history of multiple surgeries, reported to suffer from occipital headache radiated to retroocular and left hemicrania, nausea and vomiting, blurred vision, sonophobia, tinnitus, plugged ears, hearing loss, vertigo, dysphagia, insomnia, nervousness, cervical pain, paraesthesia and lack of strength in the upper extremities, back pain that made breathing difficult, lower back pain, fasciculations, paraesthesia, urinary urgency and incontinence, and lack of strength in the lower extremities, with falls due to loss of coordination.
The physical examination detected spontaneous nystagmus, scoliotic attitude, thermal hypoaesthesia in the lower extremities and very extensive tactile hypoaesthesia, slight alterations of the tendon reflexes, cutaneous-plantar reflexes with a tendency to extension, diminished cutaneous-abdominal reflexes and positive Romberg test.
Magnetic resonance imaging showed moderate descent of the cerebellar tonsils, mild multiple disc disease and a low-lying conus medullaris at the level of the upper third of the L2 vertebra. The full spine x-ray ruled out scoliosis. Imaging of patient 5 is illustrated in Fig. 5.
Figure 5. Imaging of patient 5. Moderate descent of the cerebellar tonsils, conus medullaris in upper third of L2.
Sectioning of the Filum terminale with postoperative evaluation 47 days after SFT
Improvement or disappearance of most of the mentioned symptoms, except for retroocular and left hemicranial pain, nausea and vomiting, blurred vision, back pain with dyspnoea, and hearing loss. In the physical examination, almost all the signs detected in the preoperative period improved or disappeared, except for the alterations in the osteo-tendon reflexes.
Patient 6
A 44-year-old female with various traumatic antecedents and atlantoaxial instability reported: headache from the age of 2, diplopia, blurred vision, scintillating scotoma, intense pain in the cheeks, especially when it is cold. Nausea, subjective vertigo, feeling that the throat tightens, dysphonia, photophobia and sonophobia, tinnitus, hyperosmia, impaired concentration, irritable mood, very depressed and maintenance insomnia. Intolerance to cold, overall sensation of fatigue, cervicalgia with stiffness, pain, tingling, a feeling of heaviness and paresis in the upper extremities. Back pain, intercostal pain and stiffness, blockage of breathing, pain in the lumbo-sacral area and lower extremities with paresis. Very cold feet with a tingling sensation, involuntary movements of the lower extremities, pollakiuria, nocturia, constipation, difficult gait (always accompanied). Spinal manipulations increased the pain.
The following stood out in the physical examination: uvula deviated towards the right, asymmetric soft palate, bilaterally deeper waist fold, quadriceps paresis and pain upon pressure in the back, neck and sacral area. Median lumbo-sacral bulge and discrete hypotrophy in the right lower leg. Hypoaesthesia and hyperaesthesia to temperature and touch. Alteration of deep tendon reflexes decreased abdominal reflexes and weak flexor tendency in the plantar reflexes.
Impaction of the cerebellar tonsils was observed in the MRI. Increased supracerebellar space, incipient descent of the cerebellar tonsils and sinuous course of the optic nerves with oedema in the sheaths. Multiple protrusions, especially C5-C6 and C7-T1, straightening of the cervical spine and a tense aspect of the cervical spinal cord. Discrete oedema in the cervical and thoracic spinal cord. The thoracic spine tends towards straightening. Low conus medullaris at the middle third of the L1 vertebra. Lumbarisation of S1 and visible filum terminale, somewhat thickened and tight. The full spine x-rays revealed dextroconvex thoracic and lumbar scoliosis with very discrete minor compensatory curves, in the upper and lower part; straightening of the cervical spine and hyperlordosis of the lumbar spine; lumbarisation of S1 and rotoscoliosis of the lumbar spine from L5 / S1 upwards (rotational subluxation). Imaging of patient 6 is portrayed in Fig. 6.
Figure 6. Imaging of patient 6. Increased supracerebellar space, impaction of the cerebellar tonsils, straightening of the cervical spine, image suggestive of medullar ischemia. Conus medullaris at the level of the middle third of the L1 body.
Patient 7
A 44-year-old female diagnosed with cranio-cervical instability, fibromyalgia, chronic fatigue, postural orthostatic tachycardia syndrome and mast cell activation syndrome reports: severe headache, burning sensation, sharp, stabbing pain in various parts of the head, sensation of retroocular pressure, nausea, instability, subjective vertigo, dysphagia with a feeling of tightening in the throat, blurred vision, photophobia and sonophobia, tinnitus, hearing loss, plugged ears. Impaired speech, memory and attention, brain fog, confusion, disorientation, sad and depressed mood, anxious, nervous, mixed insomnia, non-restorative sleep and overall fatigue. Overall involuntary movements such as myoclonus, generalised lack of sensitivity and lack of thermal sensitivity in the hands. Cervicalgia radiating to the lower back, pain and a feeling of heaviness in the shoulders and upper extremities, dropping objects from her grip. Back pain and intercostal pain that block breathing and make it difficult to breathe. Sacro-coccygeal, anal and pelvic pain; feeling of hypermobility of the coccyx and pelvis; and numbness of the genitals. Paresis, feeling of heaviness and spasms in the lower extremities. Pollakiuria, urinary incontinence and urgency, diarrhoea and constipation. Lack of coordination, difficult gait. The symptoms worsen in the winter. Patient presents panic of spontaneous cervical dislocation.
The physical examination highlighted: deviated uvula, altered deep tendon reflexes, right plantar reflexes tend to extension, and the left one is indifferent. Sensitivity to temperature: generalised hypoaesthesia, anaesthesia in one hand, and hyperaesthesia in the lower back and lower extremities. Hypoaesthesia and hyperaesthesia to touch. Pain at pressure: cervical, thoracic, lumbar regions and right lower leg. Heel walking is impossible.
The MRI shows descent of the cerebellar tonsils, 13mm pineal cyst, multiple disc protrusions in T4-T8 and T9-T10, with herniation T5-T6. Straightening of the thoracic and lumbar spine. Low conus medullaris at the upper third level of the L2 vertebra. The full spine x-rays show a mild double-curved thoracic and lumbar scoliosis (< 10ºCobb), lower extremity dysmetria with shortening of the left lower extremity estimated to be 3 mm at the level of the acetabular roofs and 7 mm at the level of the iliac crests. Dextroconvex lumbar scoliosis estimated to be 2° and levoconvex cervicothoracic scoliosis estimated to be 10° (both total, including all vertebrae). The estimated lateral curves, including all vertebral bodies in each region, are: cervical lordosis 25°, thoracic kyphosis 34°, and lumbar lordosis 53°. These findings are illustrated in Fig. 7.
Figure 7. Imaging patient 7. Descent of the cerebellar tonsils, straightening of the cervical spine with image suggestive of medullar ischemia. Straightening of the upper part of the lumbar spine, conus medullaris at the level of the upper third of L2.
Patient 8
A 38-year-old man diagnosed with cranio-cervical and atlantoaxial instability reported: headache, nausea, instability, vertigo, darkened, blurred and double vision, halos around lights, sonophobia, tinnitus, altered speech and concentration, brain fog, depressed mood, anxiety and nervousness, mixed insomnia, non-restorative sleep, feeling of overall fatigue. Cervicalgia radiating to the trapezius, inability to turn the head to the right, shoulder pain, numbness and lack of strength in one hand. Intercostal pain and breathing difficulties. Lower back pain, numbness and pain in one foot. Diarrhoea and constipation.
The physical examination had the following findings: deviation of the uvula, uneven shoulders, slight levoconvex scoliotic attitude and bulging of the right hemithorax. Hyperreflexia of the deep tendon reflexes, reduction and abolition of the abdominal reflexes, and flexor plantar reflexes.
The MRI showed: descent of the cerebellar tonsils and increase of the supracerebellar space, straightening of the cervical spine, multiple protrusions and discrete central spinal cord oedema C5-C7, mild scoliosis in the thoracic spine and somewhat tense aspect of the spinal cord. The Conus medullaris was at the level of the lower third of the L2 vertebra. Disc disease L5-S1. Tarlov cyst at S2. On the full spine x-rays, there was dysmetria of the lower extremities with shortening of the left lower extremity estimated to be 1 mm at the level of the acetabular roofs and 6 mm at the level of the iliac crests. Levoconvex lumbar scoliosis estimated at 5° and levoconvex cervicothoracic scoliosis estimated at 3° (both total, including all vertebrae). The estimated lateral curvatures, including all vertebral bodies in each region, were cervical lordosis 4º, thoracic kyphosis 32°, lumbar lordosis 40°. Imaging of patient 8 is illustrated in Fig. 8.
Figure 8. Imaging of patient 8. MRI of the posterior fossa with descent of the cerebellar tonsils. Cervical MRI with straightening of the cervical spine, C5-6-7 disc disease. Conus medullaris at the level of the lower third of L2. L5-S1 disc disease.
Sectioning of the Filum terminale with postoperative evaluation 83 days after surgery
Postoperative evaluation was carried out remotely with a questionnaire in relation to his symptoms. As this is incomplete information, the case is not included in the assessment of operated patients. Most of the symptoms remained unchanged, except for nausea, instability, alterations in concentration and mood (depression, anxiety, and nervousness), general feeling of fatigue, breathing difficulties and numbness in the foot, which got worse. In addition, a new symptom appeared: dysphagia.
Patient 9
A 37-year-old female who underwent suboccipital craniectomy, diagnosed with fibromyalgia, postural orthostatic tachycardia syndrome and with various traumatic antecedents, reported: headache, left retroocular pain, burning sensation in the head, nausea, vomiting, instability, subjective vertigo, dysphagia, blurred vision, phosphenes, diplopia, photophobia and sonophobia, tinnitus, speech, memory and concentration problems, unstable mood, mixed insomnia, general tiredness and non-restorative sleep. Involuntary movements in the lower extremities. Cervicalgia radiating to the shoulders and interscapular region; and pain, numbness, and tingling in the upper extremities. Sensation of thoracic tightness with intercostal radiation. Lower back pain with blockages, radiating to the lower extremities, sensation of itching, burning and weakness in the legs, with falls. Mixed urinary incontinence and urgency, frequent urination, diarrhoea, and constipation. Limited gait.
The physical examination highlighted the following: anisocoria and nystagmus, pain with pressure in the thoracic region and lower right extremity, thermal and tactile hypoaesthesia. Scars sensitive to palpitation: extensive cervico-occipital scar, two lumbar scars and scars in the hypochondrium; Brisk deep tendon reflexes, abolition of abdominal reflexes, and flexor plantar reflexes. Difficult gait, especially on the heels.
The MRI shows: descent of the cerebellar tonsils, ischemic foci in the white matter of the cerebral hemispheres, and oedema in the optic nerve sheaths. Kyphosis of the cervical spine (especially C5-C6-C7). Tense aspect of the cervical spinal cord. Disc disease: C3-C4-C5-C6-C7-T1. Ischemia and cervical and thoracic oedema. Straightening and scoliosis of the thoracic spine. Lumbar lordosis straightening. Conus medullaris at the level of the middle third of L1. Postsurgical changes in L4-L5 (disc prosthesis). The full spine x-rays show cervical, thoracic and lumbar scoliosis, with a biggest curve being dextroconvex of wide radius in the thoracic and lumbar region. These findings are illustrated in Fig. 9.
Figure 9. Imaging of patient 9. MRI of the posterior fossa, descent of the cerebellar tonsils, increased supracerebellar space. Straightening of the cervical spine, suboccipital craniectomy with C1 laminectomy. Conus medullaris at the level of the middle third of L1. L4-5 disc prosthesis.
Patient 10
A 50-year-old female with a history of craniectomy and occipitocervical fusion, lumbar fusion and hypermobile type EDS reported headaches in the occipital region, radiation of headaches, episodes of loss of consciousness and facial paraesthesia. Nausea and vomiting, subjective vertigo or dizziness, blurred vision, diplopia, episode of amaurosis fugax, photophobia, sonophobia, tinnitus, hyposmia, hypogeusia, global dysphagia, bruxism, speech and concentration problems, mixed insomnia, and negative mood swings. Cervicalgia, with blockage episodes, that radiates into the shoulders and upper extremities. Paraesthesia, fasciculations, feeling of overall weakness, dropping objects, electric currents, burning and pricks in the upper extremities. Thoracic back pain, radiating into the intercostal region, breathing difficulty and paraesthesia. Lower back pain, with blockage episodes, radiating into the hips, sacral region, groin and thighs. Paraesthesia, paresis, fasciculations, sensation of electric current and weakness in the lower extremities. Difficult gait, difficulty climbing stairs, difficulty changing position and clumsiness when walking. Involuntary movements in all extremities when sleeping. Urinary retention and chronic constipation. Cold hands and feet, hyperhidrosis in the trunk and loss of sensitivity to touch and temperature.
The physical examination revealed: nystagmus, uvula with mild deviation to the left, uneven shoulders, bilateral tendency of scapula alata and deeper waist fold. Pain upon pressure in cervical, thoracic, and lumbar regions, and sacral area. Hypoaesthesia to temperature and touch. Alteration of the deep tendon and abdominal reflexes. Plantar reflexes in extension (Babinski's sign).
Magnetic resonance imaging showed macro lacunae bilaterally in the frontal white matter. Postsurgical changes from occiput to C7. Fusiform intramedullary cyst at C7, the rest of image of ischemia/oedema in the cervical and thoracic cord with foci of intramedullary cyst. Multiple Schmorl's hernias. Disc disease: T2-T3, T5-T6-T7, T10-T11-T12, L3-L4 and L5-S1. Straightening of cervical lordosis and thoracic kyphosis. Conus medullaris at level T12-L1. Lumbar laminectomy with interbody fusion and transpedicular screws L4-L5. The full spine x-rays showed slight misalignment of the spine in the anteroposterior plane and loss of the cervical lordosis and thoracic kyphosis in the sagittal plane. Imaging of patient 10 is displayed in Fig. 10.
Figure 10. Imaging of patient 10. Macro lacunae in white matter, intramedullary cyst at C7, arthrodesis C6-7, cervical straightening. Lumbar straightening, conus medullaris at T12-L1, arthrodesis L4-5.
Sectioning of Filum terminale with postoperative evaluation 8 days after surgery Improvement/disappearance of almost all the mentioned symptoms, with the exception of paresis and involuntary movements of all the extremities falling asleep, which did not change. On physical examination, the pain upon pressure (cervical, thoracic, and lumbar regions), the temperature hypoaesthesia, and the alteration of the deep tendon reflexes had disappeared, and the Babinski's sign had partially improved. The rest of the signs remained unchanged or were not assessed.
Descriptive analysis of NCVS-EDS
General data
Among the 10 selected patients, 9 were females (90%) and 1 was male (10%). They were between 35 and 64 years old (median 45, mean 46.3, standard deviation 9.51) (Table 2).
Table 2
Description and clinical observations of 10 patients.
Patient | Sex, age | Diagnoses | SFT date | Postoperative findings | Observations | Surgical Effectiveness (patient / doctor) |
1 | F, 60 | NCVS, FD, EDS, DCT, MD | 19-May-14 | Improvement of most symptoms | Use of neck brace due to pain | 100% clinical improvement, very useful / 78% clinical improvement |
2 | F, 64 | NCVS, FD, EDS, DCT, MD | 15-Dec-15 | Improvement and disappearance of most symptoms | Increased back mobility, improved gait | 100% clinical improvement, very useful / 77% clinical improvement |
3 | F, 35 | NCVS, FD, EDS, DCT, MD, Cervical hypermobility | - | - | Use of neck brace due to instability, CDP | - |
4 | F, 46 | NCVS, FD, EDS, DCT, DS, MD, LCM | - | - | Dislocation of the fingers of the hands | - |
5 | F, 46 | NCVS, FD, EDS, DCT, ACSI, IS, MD | 16-Feb-17 | Improvement and disappearance of most symptoms | - | 50% clinical improvement, very useful / 74% clinical improvement |
6 | F, 44 | NCVS, FD, EDS, ICT, DS, LCM, MD | - | - | - | - |
7 | F, 43 | NCVS, FD, EDS, DCT, LCM, DS, MD | - | - | CDP | - |
8 | M, 38 | NCVS, FD, EDS, DCT, DS, LCM, MD | 28-May-19 | Worsening of non-pain symptoms | - | N/A, remote postoperative follow up |
9 | F, 37 | NCVS, FD, EDS, DCT, DS | - | - | Cervical spine with arthrodesis | - |
10 | F, 50 | NCVS, FD, EDS, IS, MD | 3-Sep-19 | Improvement and disappearance of most symptoms | Subsequent wound infection | 70% clinical improvement, very useful / 89% clinical improvement |
In the surgical effectiveness column, the patient evaluated his/her evolution as a percentage of subjective improvement or worsening, and the degree of usefulness of the surgery by using the scale “very useful, useful, not very useful, useless, harmful”. The doctor objectively assessed and recorded the evolution of postsurgical signs. Where: ACSI: Arnold Chiari syndrome type I; CDP: cervical dislocation panic syndrome; DCT: descent cerebellar tonsils; DS: deviated spine; EDS: Ehlers-Danlos syndrome; FD: filum disease; ICT: impaction of cerebellar tonsils; IS: idiopathic syringomyelia; LCM: low conus medullaris; MD: multiple diseased discs; NCVS: neuro-cranio-vertebral syndrome; SFT: sectioning filum terminale.
The time interval from the appearance of the first symptoms to the diagnosis was longer than 10 years in 9 cases (90%) and between 2 and 5 years in 1 case (10%).
Regarding the type of clinical course, in half of the cases (50%) it was progressive and in the other half it was chronic - it was of long duration but without any clear impression of progression over time.
It is interesting that the 10 patients share very similar medical-surgical antecedents: multiple allergies and intolerances (10/10), various components of central sensitivity syndromes (5/10), thyroid problems (5/10), regular treatment with opioid and related analgesics (8/10) and multiple surgeries for various conditions (8/10).
Neurological clinical picture
The clinical signs and symptoms detected in the specific neurological examination of these 10 patients are presented in Table 3 and 4 respectively.
Table 3
Clinical signs in the 10 patients with Ehlers-Danlos syndrome.
Symptoms | Percentage (%) |
Nausea and / or vomiting | 100 |
Balance disorders1 | 100 |
Visual alterations2 | 100 |
Neck pain | 100 |
Lumbo-sacral pain | 100 |
Chiari-type headache | 90 |
Sonophobia | 90 |
Altered attention | 90 |
Cognitive impairment | 90 |
Mood alterations | 90 |
Insomnia | 90 |
Pain in upper extremities | 90 |
Gait alterations | 90 |
Dysphagia | 80 |
Tinnitus | 80 |
Language disorders | 80 |
Paraesthesia | 80 |
Sensation of lack of strength in upper extremities | 80 |
Sphincter alterations4 | 80 |
Nervousness / irritability | 70 |
Back pain | 70 |
Sensation of lack of strength in lower extremities | 70 |
Photophobia | 60 |
Memory impairment | 60 |
Sadness | 60 |
Global tiredness | 60 |
Pain in lower extremities | 60 |
Diplopia | 50 |
Numbness in upper extremities | 50 |
Altered thermal perception3 | 50 |
Involuntary movements / fasciculations | 50 |
Chest pain | 40 |
Anxiety | 20 |
Numbness in lower extremities | 20 |
Sensations of electric current | 20 |
Atypical headache | 10 |
Sensation of lack of strength upper extremities | 0 |
1Babinski's sign present unilaterally or bilaterally in 3 cases (30%) |
Table 4
Clinical symptoms in the 10 patients with Ehlers-Danlos Syndrome.
Signs | Percentage (%) |
Altered deep tendon reflexes lower extremities | 100 |
Altered deep tendon reflexes upper extremities | 90 |
Altered tactile sensitivity | 90 |
Altered cutaneous-abdominal reflexes | 80 |
Altered cutaneous-plantar reflexes1 | 80 |
Altered thermal sensitivity | 80 |
Sensitivity to paravertebral pressure and lower extremities | 80 |
Romberg test | 70 |
Decreased grip strength | 60 |
Scoliotic attitude | 60 |
Inverted Lasègue manoeuvre | 50 |
Nystagmus | 40 |
Uvula deviated | 40 |
Lasègue manoeuvre | 30 |
Barré manoeuvre | 30 |
Positive tests for paresis | 30 |
Toes / heels gait disturbance | 30 |
Quadriceps paresis test | 30 |
Anisocoria | 20 |
Mingazzini manoeuvre | 20 |
1Instability, dizziness, vertigo, etc. 2Blurred vision, phosphenes, scotoma, etc. 3Sensation of cold hands and/or feet, intolerance/insensitivity to cold/ heat. 4Pollakiuria, enuresis, incontinence/retention, urgency, etc. |
MRI features
The descent of the cerebellar tonsils (Arnold-Chiari Syndrome type I) was present in 8 cases (80%), the majority (50%) were mild (upper/middle third of the O-C1 interval), and in one case (10%), there was only an impaction of the cerebellar tonsils. The descriptive summary of imaging results in the 10 patients with NCVS and EDS are presented in Table 5.
Table 5
Summary of imaging results in the 10 patients with neuro-cranio-vertebral syndrome and Ehlers-Danlos syndrome.
| Conus medullaris level | Descent of cerebellar tonsils magnitude | Idiopathic scoliosis |
Patient 1 | 3 | 1 | 1 |
Patient 2 | 2 | 3 | 2 |
Patient 3 | 1 | 1 | 0 |
Patient 4 | 6 | 1 | 1 |
Patient 5 | 6 | 3 | 0 |
Patient 6 | 7 | 0 | 1 |
Patient 7 | 6 | 2 | 1 |
Patient 8 | 8 | 2 | 1 |
Patient 9 | 3 | 3 | 1 |
Patient 10 | 1 | 0 | 1 |
For numerical key, see Table 1. |
Spine deviation (idiopathic scoliosis) was observed in 8 cases (80%). In the majority (70%) of the cases it was mild (up to 10º Cobb), while in one patient (10%) it was moderate (between 10º-40º Cobb).
We only found an intramedullary cyst (idiopathic syringomyelia) in case number 5 but nevertheless, in all the other cases, areas interpreted as spinal cord ischemia-oedema have been observed.
The position of the tip of the conus medullaris with respect to the vertebral levels was highly variable. The most frequent conus medullaris level was at the upper third level of the L2 vertebra, in 3 cases (30%).
Regarding malformations of the occipito-cervical junction, in this series we have not found any case with Retroflexed Odontoid, Basilar impression, Platybasia or Brainstem kinking.
Comparison between the 10 patients with NCVS-EDS and the 373 cases with NCVS-FD.
The symptomatic comparison between the 10 patients with NCVS associated with EDS and the group of 373 cases with NCVS published by Royo-Salvador et al. (13) is represented in charts that divide the symptoms into two large categories: cranial (Fig. 11), and vertebral (Fig. 12). The comparison regarding the physical examination is represented in Fig. 13. Only the variables present in both studies have been considered when presenting this data. To compare the imaging features, we have graphically represented the descent of the cerebellar tonsils level in Fig. 14, the degree of the deviation of the spine in Fig. 15, and the conus medullaris level in Fig. 16.
Figure 11. Comparison of cranial symptoms between 10 patients with SNCV-EDS and 373 patients with NCVS (13).
Figure 12. Comparison of vertebral symptoms between 10 patients with NCVS-EDS and 373 patients with NCVS (13).
Figure 13. Comparison of clinical signs between 10 patients with NCVS-EDS and 373 patients with NCVS (13).
Figure 14. Comparison descent of cerebellar tonsils between 10 patients with NSCV-EDS and 373 patients with NCVS (13).
Figure 15. Comparison degree of spinal deviation between 10 patients with NCVS-EDS and 373 patients with NCVS (13).
Figure 16. Comparison conus medullaris level between 10 patients with NCVS-EDS and 373 patients with NCVS (13).
We found that patients with EDS are clearly distinguished within the group of individuals affected by NCVS as they have more cranial (Fig. 11) and vertebral (Fig. 12) symptoms, such as: headache, visual disturbances, tinnitus, pain in the upper extremities, neck pain, lumbo-sacral pain, sensation of lack of strength in upper extremities, nausea and/or vomiting, dysphagia, insomnia, and gait disturbances.
Regarding the signs, among those that were significantly more frequent in the EDS, we found: altered deep tendon reflexes in the lower extremities, altered tactile sensitivity and a positive Romberg test. On the other hand, signs such as nystagmus, decreased grip strength, the Lasègue and Mingazzini tests were significantly less frequent compared to the group of patients with NCVS without EDS.
There was little significant difference between the two groups regarding the MR imaging and full spine x-rays, except for an evident lack of syringomyelia in patients with NCVS and EDS.
Postoperative evolution of 4 NCVS-EDS cases
Postoperative check-up was carried out 8 days, 7weeks, 4 months, and 14 months after the SFT. On a global level, the postoperative evolution of all neurological symptoms and signs in the 4 patients is represented respectively in two circular charts (Fig. 17A and B). The specific evolution of each symptom and sign in each patient after the SFT is shown in Table 6, 7 and 8.
Figure 17. Synthesis of the postoperative evolution in 4 patients after sectioning of the filum terminale. Evolution of symptoms in A, and evolution of signs in B.
Table 6
Postoperative evolution of cranial symptoms in 4 patients after sectioning of the filum terminale.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 |
Headache | ↑ | ↑ | ↑ | ↑ |
Balance disorders1 | ↑ | ↑ | ↑ | ↑ |
Visual alterations2 | ↑ | ↑ | → | ↑ |
Diplopia | | ↑ | | ↑ |
Tinnitus | ↑ | | ↑ | ↑ |
Language disorders | ↑ | → | | ↑ |
Memory impairment | ↑ | ↑ | | |
Attention alterations | ↑ | ↑ | | ↑ |
Sadness | ↑ | ↑ | | |
Anxiety | | | | |
Nervousness / irritability | ↑ | | ↑ | ↑ |
Nausea and / or vomiting | ↑ | ↑ | → | ↓ |
Dysphagia | ↑ | → | ↑ | ↑ |
Insomnia | | → | ↑ | ↑ |
Global tiredness | ↑ | | | |
Where: the upward arrow is improvement or disappearance of symptoms, the rightward arrow is no change, the downward arrow is worsening. Blank spaces indicate that the symptoms are not present.
Table 7
Postoperative evolution of vertebral symptoms in 4 patients after sectioning of the filum terminale.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 |
Pain upper extremities | ↑ | ↑ | | ↑ |
Pain lower extremities | ↑ | ↓ | | ↑ |
Chest pain | ↑ | | → | ↑ |
Neck pain | ↑ | ↑ | | ↑ |
Upper back pain | ↑ | ↑ | ↓ | ↑ |
Lumbosacral pain | → | ↑ | ↑ | ↑ |
Numbness upper extremities | → | | | |
Numbness lower extremities | | | | |
Paraesthesia | → | ↑ | ↑ | ↑ |
Altered thermal perception | | | ↑ | ↑ |
Sensation lack of strength upper extremities | → | | ↑ | ↑ |
Sensation lack of strength lower extremities | ↑ | | ↑ | ↑ |
Sphincter alterations | | → | ↑ | ↑ |
Gait alterations | ↑ | ↑ | ↑ | ↑ |
Where: the upward arrow is improvement or disappearance of symptoms, the rightward arrow is no change, the downward arrow is worsening. Blank spaces indicate that the symptoms are not present.
Table 8
Postoperative evolution of clinical signs in 4 patients after sectioning of the filum terminale.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 |
Nystagmus | | ↑ | ↑ | ↑ |
Uvula deviation | | | | → |
Decreased grip strength | ↑ | ↑ | ↑ | |
Altered deep tendon reflexes upper extremities | ↑ | → | → | |
Altered deep tendon reflexes lower extremities | → | ↓ | → | ↑ |
Altered abdominal reflexes | → | → | ↑ | |
Altered plantar reflexes | ↑ | → | ↑ | ↑ |
Altered thermal sensitivity | | ↑ | ↑ | ↑ |
Altered tactile sensitivity | ↑ | ↑ | ↑ | ↑ |
Lasègue test | | ↑ | | |
Inverted Lasègue test | | ↑ | | |
Mingazzini test | | ↑ | | |
Barré test | | ↑ | | |
Sensitivity to paravertebral pressure and lower extremities | ↑ | ↑ | | ↑ |
Scoliotic attitude | → | | → | → |
Romberg test | ↑ | ↑ | ↑ | ↑ |
Toes / heels gait disturbance | | ↑ | | |
Quadriceps paresis test | ↑ | | | |
Where: the upward arrow is improvement or disappearance of signs, the rightward arrow is no change, the downward arrow is worsening. Blank spaces indicate that the signs are not present.
Some observations can be made about the results after SFT in these 4 patients with NCVS and EDS:
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cranial symptoms that improved or disappeared: Chiari-type headache, diplopia, tinnitus, alterations in balance and mood, overall fatigue, memory, and concentration impairment (Table 6).
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vertebral symptoms that improved or disappeared: pain in the upper extremities and cervical region, altered thermal perception, sensation of loss of strength in the lower extremities and gait alterations (Table 7).
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clinical signs that improved or disappeared: nystagmus, decreased grip strength, alteration of thermal and tactile sensitivity, Lasègue test, inverted Lasègue test, Mingazzini test, Barré test, sensitivity pressure in paravertebral region and lower extremities, positive Romberg test, altered toe/heel walking, and quadriceps paresis test (Table 8).