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|
|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|
- Henderson et al.. Neurological and spinal manifestations of the Ehlers-Danlos syndromes. American journal of medical genetics. Part C, Seminars in medical genetics 2017. 175:195-211. PMID: 28220607. DOI.
- Cazzato, Daniele et al. “Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes.” Neurology vol. 87,2 (2016): 155-9. doi:10.1212/WNL.0000000000002847