Neurological Manifestations of the Ehlers Danlos Syndromes

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See open access review by Henderson et al.[1]

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[2] 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

  1. 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.
  2. 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