Axonopathy

[CINDY4]

I have a nine yr old daughter with many unexplained problems going on.  Her med history is ground glass infiltrates on lung CT, lung biopsy showing eosinophilic pneumonia, eosinophilia of 14%, chronic sinusitis requiring 2 surgeries in past 18 months,ANA 1:320 speckled,GI problems requiring Nisson and gallbladder removal,bleeding ulcers, biopsies of colon showing mild chronic inflamation (inflammation), gallbladder shows same thing, sinus biopsy showed increased eosinophils and chronic inflamation (inflammation).  Now the sural nerve biopsy they did shows "axonopathy, active and chronic, mild", her neuroologist didn't know what to make of it becasuse he thought it would be normal because even though she has symptoms(tingling and occasional numbness) he found no muscular weakness, or loss of sensation on exam.  So he called a nerve expert at the university and was told it could possibly be normal, that he thought a normal person could have mild axonopathy, but also said it could be mild neuropathy.  So they have advised a nerve condution study to determine. My question is , is what they are saying true?  Can you have pathology showing mild axonopathy that is actively and has chronically degenerating the axons and it be normal, especially in light of everything else going on?  She fits the critera of Churg-Strauss, a vasculitis.  Although there has only been questionable evidence of vasculitis on her lung biopsy and not in any of the other biopsy sites, including the nerve. Can you have a Churg-Strauss neuropathy with out eosinophils or vasculitis in the biopsy?  Thanks for your input!

[CCF-Neuro-M.D.-JT]

Without actually seeing your daughter, I cannot give an accurate medical opinion for her specific case.  However, a peripheral neuropathy (PN) in a child with eosinophilia, asthma, and pulmonary infiltrates is very highly suggestive of Churg Strauss disease.  It's true that a pathological or more definitive diagnosis of vasculitis is dependent on the findings of inflammation and blood vessel changes.  But the literature has shown that these changes are more commonly found in the muscle rather than a nerve.  Typically, that's one of the reasons why it's recommended to have a combined muscle and nerve biopsy rather than just a nerve biopsy.  Although I certainly can't speak for your docs and it's a bit hard to interpret what they're telling you, it sounds like your daughter probably does have a peripheral neuropathy both clinically and by biopsy. She doesn't necessarily need to have loss of sensation to have a PN.  We see this in a number of diseases in which the patient has little to no senosry complaints and is found to have varying degrees of peripheral neuropathies. An EMG, preferably at a major academic center, would help to characterize the presence and severity of the PN and I would recommmend a full EMG rather than just a nerve conduction study for a thorough evaluation.  Treatment would be immunosuppression with meds like steroids and cytoxan.  Best of luck to you and your daughter.