Skin and conjunctival nerve biopsies in adrenoleukodystrophy and its variants

This study demonstrates that skin or conjunctival biopsies are capable of diagnosing adrenoleukodystrophy and its variants. Electron microscopy of cutaneous nerve twigs in eleven patients showed characteristic curved clefts and leaflets in Schwann cells surrounding myelinated axons. In addition, three conjunctival biopsies were done, two of which were positive. The two peripheral nerve trunk biopsies performed also showed characteristic Schwann cell changes.