Neurological Manifestations of the Ehlers Danlos Syndromes

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 NeuropathyCazzato, 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	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
==References==
Category:Heritable Connective Tissue Disorders
Category:Neurology