Demonstration of Specific Storage Material within Cutaneous Nerves in Metachromatic Leukodystrophy

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Abstract
Biopsies of clinically unaltered skin from a 5 yr old girl with metachromatic leukodystrophy [MLD] were studied by light, fluorescence and analytical EM. Investigation of hematoxylin-eosin-stained sections revealed no pathologic changes, but a brown metachromatic material was found within cutaneous nerves after acetic acid cresyl violet staining of frozen sections. In semithin Epon sections small dermal nerve fascicles contained endoneural deposits, that corresponded with the typical prismatic, dense or Tuffstein bodies described in other organs of patients suffering from MLD. The inclusions were located mainly within Schwann cells and exhibited a bright orange fluorescence after trypaflavine-phosphotungstic acid-treatment and a high electron density in serial ultrathin sections. Energy dispersive X-ray microanalysis revealed a high S content in the membrane bound granules. The specific storage material was also present within cutaneous nerves in MLD, suggesting that skin biopsies can be used as an additional and simple diagnostic aid in this disease.