title: Subacute peripheral and optic neuropathy syndrome with no evidence of a toxic or nutritional cause.
abstract: BACKGROUND
  The syndrome of subacute simultaneous peripheral neuropathy and bilateral optic neuropathy is known to occur in tropical countries, probably due to malnutrition or toxicity, but not often seen in developed countries. We report seven patients in London who were not malnourished or alcoholic, and in whom no clear cause was found.
  
  
  METHODS
  We retrospectively reviewed the case notes and arranged some further investigations.
  
  
  RESULTS
  All patients developed peripheral and bilateral optic neuropathy within 6 months. Patients were aged 30-52, and all of Jamaican birth and race but lived in the UK. Most had subacute, painful ataxic sensory axonal neuropathy or neuronopathy, some with myelopathy. Nerve conduction studies revealed minor demyelinating features in two cases. The optic neuropathy was symmetrical, subacute and monophasic, usually with marked reduction in visual acuity. CSF protein concentration was usually elevated but other laboratory investigations were normal. Patients showed only modest improvement at follow-up.
  
  
  CONCLUSIONS
  These patients share a common clinical and electrophysiological phenotype, age, ethnicity and elevated CSF protein, but otherwise normal laboratory investigations. The syndrome is a cause of significant morbidity in young people. The cause remains uncertain despite thorough investigation.
authors: Department of Clinical Neurophysiology, King's College Hospital, London, UK. davidcallen@doctors.org.uk
authors: D
authors: D
authors: Allen
authors: P
authors: P
authors: Riordan-Eva
authors: R W
authors: RW
authors: Paterson
authors: R D M
authors: RD
authors: Hadden
mesh_terms: D000328:Adult; D000437:Alcoholism / Q000453:epidemiology; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D004576:Electromyography; D004596:Electroretinography; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D006801:Humans; D008131:London / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction; D009460:Neurologic Examination; D009752:Nutritional Status; D009901:Optic Nerve Diseases / Q000150:complications* / Q000188:drug therapy / Q000209:etiology*; D010146:Pain / Q000209:etiology; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000188:drug therapy / Q000209:etiology*; D011115:Polyneuropathies / Q000150:complications; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000150:complications; D012189:Retrospective Studies; D013256:Steroids / Q000627:therapeutic use; D013577:Syndrome; D014792:Visual Acuity
chemical_list: D000893:Anti-Inflammatory Agents; D002556:Cerebrospinal Fluid Proteins; D013256:Steroids
keywords: ATP synthase subunit 6 and MT-ATP8, ATP synthase subunit 8; CIDP; CMAP; CMCT; CNS; CSF; CT; CXR; DNA polymerase subunit gamma; EMG; ERG; ESR; HTLV; LHON; Leber's hereditary optic neuropathy; MFN2; MRC; MRI; MT-ATP6; Medical Research Council; Mitofusin-2; NCS; Optic neuropathy; PEO1; PERG; PET; POLG; Peripheral neuropathy; Polyneuropathy; SNAP; SPONS; SSEP; TAN; Toxic-metabolic; UK; United Kingdom; VEP; central motor conduction time; central nervous system; cerebrospinal fluid; chest x-ray; chronic inflammatory demyelinating polyradiculoneuropathy; compound muscle action potential; computerised tomography; electromyography; electroretinogram; erythrocyte sedimentation rate; human T-cell lymphotrophic virus; magnetic resonance imaging; nerve conduction studies; pattern electroretinogram; positron emission tomography; progressive external ophthalmoplegia 1; sensory nerve action potential; somatosensory evoked potentials; subacute peripheral and optic neuropathy syndrome; tropical ataxic neuropathy; visual evoked potentials