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Related Concept Videos

Data Reporting and Recording01:24

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Reporting and recording are crucial in data documentation. The timely, thorough, and accurate documentation of facts is essential when recording patient data. Failure to record findings during an assessment or interpretation of a problem will result in loss of information and make the patient document unreliable. The reader is left with general impressions if the information is not specific. A recording is documenting data of the individual's health information in a traceable, secure, and...
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An Incident or Occurrence Report in a healthcare setting is a crucial document used to record any unexpected occurrence that may or may not have affected a patient, employee, or visitor. Such reports are critical to improving patient safety and include all details leading up to and including the event.
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Corneal Confocal Microscopy: A Novel Non-invasive Technique to Quantify Small Fibre Pathology in Peripheral Neuropathies
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Peripheral neuropathy in a case with CADASIL: a case report.

Yusuke Sakiyama1, Eiji Matsuura2, Yoshimitsu Maki1

  • 1Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima City, Kagoshima, 890-8520, Japan.

BMC Neurology
|September 2, 2018
PubMed
Summary

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can affect peripheral nerves. This study identified CADASIL in a patient with neuropathy, suggesting it should be considered in undiagnosed cases.

Keywords:
CADASILGranular osmiophilic material (GOM)Multiple mononeuropathyNOTCH3Peripheral neuropathy

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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) primarily affects the central nervous system.
  • The involvement of CADASIL in peripheral neuropathy remains largely uncharacterized.

Observation:

  • A 67-year-old Japanese male presented with progressive sensory and motor neuropathy.
  • Electrophysiological and pathological studies confirmed peripheral neuropathy.
  • Brain MRI showed ischemic and hemorrhagic lesions consistent with cerebrovascular disease.

Findings:

  • Morphological analysis revealed granular osmiophilic material in endoneurial vessel walls.
  • Genetic testing identified a heterozygous NOTCH3 mutation (p.Arg75Pro).
  • These findings led to a diagnosis of CADASIL.

Implications:

  • CADASIL should be considered in the differential diagnosis of unexplained peripheral neuropathies.
  • This case expands the clinical spectrum of CADASIL.
  • Further research is warranted to understand the mechanisms of peripheral nerve involvement in CADASIL.