Progressive infantile axonal polyneuropathy

Polyneuropathies are relatively uncommon in early infancy and the majority of affected children are found to have hypomyelinating neuropathies. Axonal sensorimotor neuropathies have been described in childhood but the majorit y of affected children present at or after 6 months of age, have nonprogres sive courses, and achieve the ability to walk, albeit late. Here we present three infants with infantile progressive axonal polyneuropathy from two fa milies with nonconsanguineous parents. Each child presented shortly after t he neonatal period and with rapid progression to quadriplegia. Involvement of the lower cranial nerves, phrenic nerves, or both was present in each ch ild. Electrophysiology was diagnostic in each child. While the diagnosis of spinal muscular atrophy was considered in each case, clinical presentation , biopsies, and genetic testing were inconsistent with this diagnosis. Reco gnition of this early form of progressive axonal neuropathy is important as respiratory compromise occurred early and the condition showed familial in heritance in two of our patients.