Neurological Manifestations of the Ehlers Danlos Syndromes

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See open access review by Henderson et al.

	Aetiology	History and Examination Findings	Investigations	Treatment
Migraine	Spread of depression of cortical electrical activity leading to abnormal regulation of cerebral vasculature	Recurrent attacks of moderate to severe intensity; lasting 4-72 hours; often unilateral, pulsating, associated with nausea, photophobia, phonophobia; often has a prodrome and postdrome	N/A clinical diagnosis	Multiple standard treatment options, refer to standard text
Small Fibre Neuropathy	Idiopathic	Neuropathic pain	Nil routine available in NZ	TCAs, gabapentinoids
Idiopathic Intracranial Hypertension	Possibly due to venous sinus stenosis resulting in excess CSF production and reduced absorption.	Headaches, visual disturbances, and photophobia, occasionally tinnitus, nausea and vomiting; papilloedema or visual field defects	raised ICP >25cm of water or >20cm in non-obese patients; exclusion of other causes of raised ICP	Weight loss, acetazolamide, serial lumbar punctures, shunt procedures, optic nerve sheath fenestration, subtemporal decompression
Chiari I Malformation	Developmentally small posterior fossa leads to downward migration of the brainstem and cerebellar tonsils through the foramen magnum into the spinal canal, causing obstruction to CSF circulation.	Suboccipital pressure headaches; tussive headache, dizziness, cerebellar findings - dysarthria, incoordination, imbalance, and unsteady gait, positive Rombergs sign; cranial nerve deficits; sometimes trigeminal neuralgia; dysautonomia; sleep apnoea	5mm tonsillar herniation through foramen magnum, size is unrelated to symptoms; empty sella syndrome with flattening of the pituitary gland, syrinx formation with mass effect; pituitary hormonal changes	Surgery, monitoring
Atlantoaxial Instability	Atlantoaxial stability is determined by ligamentous structures	Disabling neck or suboccipital pain; of cervical medullary syndrome, or (pre-)syncopal episodes; other symptoms - dizziness, nausea, facial pain, dysphagia, choking, respiratory issues; tenderness C1 and C2 with altered neck rotation, hyperreflexia, dysdiadochokinesia, hypoaesthesia to pinprick	Radiological evidence of instability or compression of the neuroaxis is required for diagnosis; rotation of C1 on C2 > 41 degrees; retro-odontoid pannus on MRI	Neck brace, physical therapy, avoid provoking activities, fusion C1-2
Craniocervical instability	Incompetent ligamentous connections from the skull to the spine leading to deformation of brainstem and upper cervical cord, traction on vertebral artery	Cervical medullary syndrome. Pyramidal and sensory changes, weakness, hyperreflexia, pathological reflexes Babinski Hoffmans and absence of abdominal reflex; paraesthesias, sphincter problems, headache, neck pain, dizziness, vertigo, dyspnoea, dysphonia, altered vision and hearing, syncope, vomiting, altered sexual function, gait changes.	Various craniocervical metrics - clivo-axial angle, Harris measurement, Grabb, Mapstone, Oakes	Craniocervical stabilisation
Segmental kyphosis and instability
Tethered cord syndrome	Structurally abnormal filum stretches spinal cord	Low back, leg, and foot pain, sensori-motor findings in the lower extremities, paraesthesias, hypoaesthesia to pinprick, hyperreflexia, neurogenic bladder	Low lying conus below L2, fatty infiltration, stretched or thickened filum, syrinx in lower spinal cord, scoliosis, spina bifida occulta	Surgical resection of filum terminale
Dystonias
Neuromuscular features
Tarlov cyst syndrome	Perineural cysts cause local pressure on adjacent neural structures	Sacral pain worse with sitting and standing improved with lying down, sciatica, myelopathic manifestations from extradural or subarachnoid cyst in high thoracic region, bowel and bladder dysfunction	Radiological diagnosis, primarily seen in the sacrum at the root ganglia causing erosion of the surrounding bone.	Surgical obliteration