Skin Biopsy for CADASIL & Storage Disorders with EM

For the diagnosis of CADASIL and storage disorders

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a cerebral microangiopathy, associated with mutations in the Notch 3 gene. It can present with migraines, strokes or dementia, occasionally with neuropathy. It primarily affects vascular smooth muscle cells, and is characterized by extracellular deposition of granular osmiophilic material in the tunica media of blood vessels. The deposits can be detected by Electron Microscopy of skin biopsies. (Sicurelli et al, 2005; Brulin et al, 2002).

Electron Microscopic examination of skin biopsies can also aid in the diagnosis of various Lysosomal and Perioxisomal storage diseases, listed below. These are neurodegenerative conditions that can present in infancy, adolescence, or adult life, with a variety of syndromes including delays in motor or psychomotor development, neurological deterioration, myoclonus, seizures, myeloneuropathy, leukoencephalopathy or dementia. Electron Microscopy of skin biopsies can aid in establishing a diagnosis or provide clues to direct further investigations, based on morphologic appearance of stored material and the cell type affected. (Prasad et al, 1996; Alroy and Ucci 2006; Ueda et al, 2013)

  • Neuronal ceroid lipofuscinosis (NCL)
  • Mucopolysaccharidoses
  • Oligosaccharidoses
  • Glycogen storage disorders
  • Lipidoses
  • GM2-gangliosidoses
  • Metachromatic leukodystrophy
  • Krabbe globoid cell leukodystrophy
  • Niemann-Pick's disease
  • Inherited neuroaxonal dystrophies
  • Adrenoleukodystrophy / adrenoleukomyeloneuropathy
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