Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 51

Abstract

We report a case of peripheral both demyelinating and axonal polyneuropathy in a patient affected from intestinal aganglionosis with high dose intermittent metronidazole therapy. Intestinal aganglionosis is a myenteric plexus disorder with lack of innervation concerning the whole digestive tract from the rectum to the esophagus. The familial incidence of this condition seems to be high and a recessive autosomal transmission is likely. In the pathogenesis of this disorder aberrant neural crest migration seems to be implicated: indeed frequent neurologic signs resembling dysautonomic ones, deafness and rare peripheral demyelinating or axonal neuropathies are associated. The patient was a 12 years old female child affected by intestinal aganglionosis and underwent to chronic intermittent Metronidazole treatment, with daily doses of 500 mg for 15 day every month. She was admitted to our Hospital for inability to walk, dysesthesias and pain at lower limbs, acutely started and progressively worsening. At the admission neurological examination showed ataxic gait with bilateral foot drop, severe distal weakness, bilateral tibialis anterior muscle atrophy, absent deep tendon reflexes, rapidly worsening. CSF was normal. Antibodies against to peripheral nerve (antigangliosides, sulfatide, MAG, glycosaminoglycans) resulted negative. Spinal cord MRI revealed increased roots size and increased epidural space. EMG showed denervation spontaneous activity with neurogenic MUAP modification on distal muscles. Nerve conduction study showed severe slowing of motor velocity on right and left peroneal nerves with reduced amplitude of CMAP. Sensory conduction was mild slowing on both sural nerves with reduced amplitude of SAP. Metronidazole therapy was discontinued; desametazone, high dose vitamin and intravenous immunoglobulin therapy was established in addition to rehydration and parenteral nutrition. Clinical conditions progressively improved and at two months follow up the girl was able to walk with mild ataxia. The authors emphasize in described case the difficulty to differentiate toxic or vitamin deficiency or autoimmune pathogenesis.