INFANTILE AXONAL NEUROPATHY IN 2 SIBLINGS

Two siblings presented with a recurrent axonal neuropathy associated w ith intercurrent infection. One child had mild global developmental de lay. The CSF was normal and haematological and biochemical tests faile d to reveal a metabolic disorder. Nerve conduction studies in both chi ldren showed a mixed sensory and motor axonal neuropathy. Sural nerve biopsies showed severe ongoing axonal degeneration. At post mortem exa mination peripheral nerves showed widespread axonal loss with a marked reduction of anterior horn and posterior root ganglion cells. Mild di ffuse endoneurial cell inflammation was present in the peripheral nerv es and some posterior roots. We believe that these siblings died from a genetically determined axonal neuropathy with central nervous system involvement.