Infantile axonal neuropathy in two siblings

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