Recurrent axonal polyneuropathy with or without alterations of the basal ganglia – a new clinical manifestation of mitochondriopathy?

We report about 4 patients of preschool-age, who were presented in the hospital up to 5 times, mostly some days after an unspecific intestinal infection with an acute flaccid paresis and a lack of monosynaptic reflexes like a GBS. In the neurography the nerve conduction velocity was normal, but the amplitude was significantly reduced. In all patients the serum lactate was elevated, in 3 of 4 the CSF-lactate too. In the cerebral MRT in 2 of 4 patients a significant increase of the T1-signal in the globus pallidus region was seen. In the histological and histochemical examination of the muscle in one patient we found signs of a mitochondriopathy and a pyruvate – dehydrogenase – defect. The genetical analysis of the E1α subunit of the x-chromosome revealed in this patient a new mutation in the codon 358, resulting in a substitution of lysin by glutamin.

In conclusion we suggest performing a consequent diagnosis for mitochondriopathy in all patients with recurrent axonal neuropathy.