Abstract
Giant axonal neuropathy in two siblings was reported. The fact that two cases are
found in the same family supports this disorder is genetically determined and recessively
inherited. These two cases, similar to the cases reported in literature, had chronic
peripheral neuropathy and CNS symptoms, and also petit mal absence and mental retardation
in elder sister (case 1) and precocious puberty in younger sister (case 2). Sural
nerve biopsies in both cases disclosed axonal swellings or giant axons filled with
aggregated neurofilaments, and that aggregated intermediate-sized filaments were found
within cytoplasm of Schwann cells, endothelial cells of intra and extra-neurial capillaries
and of extra-neurial arterioles, perineurial cells and endoneurial fibroblasts. Skin
biopsies in both cases disclosed that aggregated intermediate-sized filaments were
also found within cytoplasm of fibroblasts, Langerhans' cells, melanocytes and endothelial
cells of capillaries, lymphatic vessels and arterioles. The diagnosis of giant axonal
neuropathy can be made only by the findings in skin biopsy.
Key words
Two siblings with giant axonal neuropathy - fine structures of skin biopsy - endocrinological
study - vitamin B12
- intermediate-sized cytoplasmic filament
