Henderson EDNF 2011 presentation 2slides

EDNF 2011 Conference

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Fraser Henderson, Sr. MD Mackenzie Mathis SP

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Strain and deformation underlies the neurological presentation Various deformative stress conditions in the setting of Ehlers-Danlos Syndrome Correction of deformative stress improves pain, neurologic deficit, function and quality of life

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Cranio-cervical and spinal instability and related conditions in the setting of EDS results in pathological deformation of the brainstem and spinal cord Resulting deformative stress appears to underlie observed clinical manifestations Correction of deformative stress substantially improves pain, neurological function and quality of life

Stress results from strain Ɛ Ɛ = d L / Lo Normal human neuraxis develops a strain Ɛ = .17 on full flexion Giant squid axon loses function at Ɛ = .2

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Kitihara, Neurol Med Chir (Tokyo)1995 Margolies, IRCOB Conference,1992 Tunturi, J Neurosurg,1978 Breig A: Overstretching of the spinal cord--a basic cause of symptoms in cord disorders. J Biomech 3:7-9, 1970

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FLEXION

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Spinal Cord

= “out of plane” loading Causes local histopathological changes and also increases tensile stress Breig, “Adverse Mechanical Tension in the CNS”, 1978

Clumping and loss of neurofilaments and microtubules

Povlishok, Brain Path,1995 Maxwell, J Neurotrama,2002 Jafari J Neurocytol,1997

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 Secondary

injury  Up-regulation of NMDA receptors  vulnerability to nitrous oxide and reactive oxygen species  mitochondrial dysfunction and DNA fragmentation  Programmed cell death (apoptosis) (Arundine M et. al. J Neuroscience. 2004, 24(37): 8106-8123)

Ann Rheum Dis. 1994 February; 53(2): 134–136.

PMCID: PMC1005266

Respiratory abnormalities due to craniovertebral junction compression in rheumatoid disease.

R S Howard, F C Henderson, N P Hirsch, J M Stevens, B E Kendall, and H A Crockard Harris Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.

This article has been cited by other articles in PMC. Abstract OBJECTIVE--To assess the extent and severity of respiratory insufficiency associated with severe rheumatoid atlantoaxial dislocation and its relation to compression of the neuraxis. METHODS--Twelve patients with severe atlantoaxial dislocation due to rheumatoid disease were studied. Detailed clinical, CT myelography and respiratory assessment including nocturnal oximetry, were performed on all patients

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 Chiari

Malformation  Cranio-cervical instability  Atlanto-axial subluxation  Cervical hyper-angulation  Tarlov cyst  Tethered cord syndrome

Symptoms: § Headache, neck pain § Diplopia § Vertigo, tinnitus § Nausea § Dysarthria § Dysphagia § Weakness § Gait changes § Clumsiness § Sensory loss § Urinary difficulties

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Treatment: Suboccipital Decompression

A significant number of patients worsened after suboccipital decompression (Dyst ,1988; Bindal ,1995; Dauser, 1988)

Angulation over the odontoid process (Menezes,1988)

50% pediatric group have “Ventral Brainstem Flattening” (Grabb,1999)

40% have basilar impression (Cahan L, J NSGY,1982)

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Rickets Renal osteodystrophy Osteomalacia Paget’s Hyperparathyroidism Hurler’s Osteogenesis imperfecta Degenerative disoders Collagen disorders

The loss of the spine under physiological loads to maintain relationships between the vertebra and occiput in such a way that there is neither damage nor subsequent irritation of the spinal cord or nerve roots, and in addition, there is no development of incapacity deformity or pain due to structural changes.

(White and Punjabi 1978: Clinical Biomechanics of the Spine)

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Double vision Memory loss Cognitive changes Anxiety/ Depression Dizziness/Vertigo POTS Ringing in the ears Difficulty swallowing Sleep apnea Respiratory abnormalities

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Hands turn blue in cold weather Sensory loss Fatigue Unsteady walking Clumsiness/ Incoordination Urinary dysfunction Irritable bowel disease or gastro esophageal reflux disease Speech difficulties Weakness

Harris Method : basion to posterior axillary line >12mm Basion to odontoid distance: Any horizontal translational movement > 1mm is abnormal Dublin method – distance from posterior mandible to C2 > 12mm Bull’s angle > 13 degrees Wackenheim’s Line Normally there is 13 degrees of flexion/ext at O-C1 Clivo-axial angle <135 degrees

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Angulation of brainstem causes neurological disability123°

Scoville,1951

<150ºassociated with deficit Van Gilder,1984 Smoker 1984 Menezes,1988

ABNORMAL

Demonstrated Resolution of neurological deficits after correcting and stabilizing clivo-axial angle in failed Chiari patients

123°

130°

J NSGY- Kim, Rekate, Klopfenstein, Sonntag, 2004

ABNORMAL ABNORMAL

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Supine MRI

Clivo-axial angle <135°

Upright MRI

Normal Clivo-axial angle

Modified from Kim, Rekate, Klopfenstein, Sonntagg 2004

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14 12 10 8 6 4 2 0

12 9 8 7 6 5 4 3 2 1 0

Able to work/11attend school 11 8

10 Every patient surveyed said they would do the surgery again if they had the choice and said they would recommend it to a friend or family member.

Worsened No Change

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Neurological Yes Change

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Functional of Life Pain Change No Quality Retired Soon Change

Description: § Eccentricity of odontoid process on neck turning § >40 degrees of rotation of C1 § Minimal overlap of facet joints Treatment: § Atlanto-axial stabilization and fusion

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Improved

Symptoms: § Suboccipital headache § Nausea § Visual and Gait disturbance § Spasticity § Change in bowel or bladder function § Motor weakness in extremities § Babinski response § Brisk deep tendon reflexes

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Description: § A radiologic diagnosis of angulation greater than 11.5 degrees between any two vertebrae

Symptoms: § Headache or neck pain § Paresthesias and pain referable to region of spine § Weakness § Gait change Treatment: § Sensation loss, § Stabilization and fusion weakness of affected levels § Hyper-reflexia

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Description: § Cysts forming in the covering of nerve roots as they emerge from the spinal canal , using sacrum but may occur anywhere in the spine § Probably result from inherent weakness of the dura, and increased spinal fluid pressure Treatment: § Sacral laminectomy and resection of the cyst

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Symptoms: § Pain in lower back (particularly below the waist) and in buttocks, legs, and feet § Weakness and/or cramping in legs and feet § Paresthesias (abnormal sensations in legs and feet) § Pain sitting or standing for even short periods of time § Pain when sneezing or coughing

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Description: § Filum terminale malfunctions and pulls spinal cord tight causing stress on the cord and nerves § Result of improper growth of the neural tube during fetal development § Closely related to spina bifida § May develop after spinal cord injury

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Symptoms: § Severe pain in lower back and legs § Bilateral muscle weakness, tingling and sensory loss § Clumsy gait § Difficulty walking inclines/stairs

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Bowel and bladder: 30% § Neurogenic bladder § Loss of bowel/bladder control § Urinary frequency or urgency § Chronic UTIs and kidney stones § Renal failure

Radiological findings: § Lipoma, filum lipoma § Thickened filum § Descent of conus § In EDS, often “radiologically occult” Treatment: § Sacral laminectomy and untethering of cord

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8 8 Able to work/ attend school 7 7 Every patient 6 surveyed, with the exception of one, said they would do the surgery again if they had the choice, and everyone said they would recommend it to a friend or family member

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Improved Worsened No Change

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Neurological Functional Quality of Life Pain Change No Change Yes Change

Many patients with EDS have more than one condition causing deformative stress on the brainstem or spinal cord May require more than one surgery in order to correct the various spinal abnormalities

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18 year-old presenting with variety of symptoms: § § § § § § §

Severe daily headache Widespread pain Neurological deficits Memory loss and cognitive difficulties Constant dizziness POTS Severe weakness

Supine MRI

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Difficulty walking Gastroparesis Difficulty swallowing Nystagmus Inability to write, carry objects, or open doors “Heavy head” Extremely loose joints

Upright MRI

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Sacral Laminectomy and Untethering of the Cord Suboccipital Decompression and Cranio-cervical Stabilization and Fusion

Cervical CT 3 months post-op Cervical MRI 3 months post-op

After Sacral Laminectomy and Untethering of the Cord: § Pain and sensory loss in low back, legs and feet resolved § Regained strength in legs and ability to walk After Suboccipital Decompression and Cranio-cervical Stabilization and Fusion: § Headache, dizziness, neck and arm pain resolved § Strength returned to arms and hands § Swallowing, cognitive, visual, and memory issues significantly improved

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Ligamentous instability in EDS results in craniovertebral instability, kyphosis of clivo-axial angle , deformation of brainstem and cord Deformation of the brainstem, lower cranial nerves and spinal cord underlies cervicomedullary syndrome and other spinal syndromes, characterized by: headache, widespread pain, bulbar symptoms and myelopathy Reduction of deformative stress by normalization of alignment and fusion/stabilization improves pain, function, quality of life and neurological deficit

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Clair Francomano MD, GBMC , Assoc Prof, JHI Susan Mills, RN,MSC, Director Chiari Center Robert Gerwin MD Assoc Prof, JHI Ed Benzel MD- Prof Chair Neurosurg ,CCI Alex Vaccaro MD- Prof Neurosurg Ortho, TJU Stephen Mott MD Assoc Prof Peds Neurol, Dartmouth Joel Berry PhD – Prof. Chair Mech Eng, Kettering Univ Mark Alexander MD , Director Neuradiology Joshua Murdoch MD, Urology Mackenzie and Lisa Mathis William Wilson IV, Yale Univ

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