GINGIVAL BIOPSY IN THE DIAGNOSIS OF GIANT AXONAL NEUROPATHY

We report the case of a 4-year-old child presenting with a diagnosis o f giant axonal neuropathy. This rare condition was diagnosed when the child was 15 months old and was confirmed using a gingival sample remo ved during a dental examination. Structural and ultrastructural analys es demonstrated the presence of numerous unmyelinated fibres with dist ended axons and the accumulation of intermediate filaments in Schwann cells, in fibroblasts and in endothelial cells. Cytological examinatio n of connective tissue revealed the presence of mitochondria-like part icles. Scanning electron microscopic examination of hair revealed the presence of a longitudinal groove along the shaft. These characteristi c features of giant axonal neuropathy demonstrate that gingival tissue can be used as an aid in its diagnosis.