title: Progressive infantile axonal polyneuropathy.
abstract: 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 majority of affected children present at or after 6 months of age, have nonprogressive courses, and achieve the ability to walk, albeit late. Here we present three infants with infantile progressive axonal polyneuropathy from two families with nonconsanguineous parents. Each child presented shortly after the neonatal period and with rapid progression to quadriplegia. Involvement of the lower cranial nerves, phrenic nerves, or both was present in each child. 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. Recognition of this early form of progressive axonal neuropathy is important as respiratory compromise occurred early and the condition showed familial inheritance in two of our patients.
authors.affiliation: Department of Neurology, Cardinal Glennon Children's Hospital, Saint Louis University, Health Sciences Center, MO, USA.
authors.forename: T J
authors.initials: TJ
authors.lastname: Geller
authors.forename: A M
authors.initials: AM
authors.lastname: Connolly
authors.forename: S
authors.initials: S
authors.lastname: Kotagal
authors.forename: A L
authors.initials: AL
authors.lastname: Prensky
mesh_terms: D017668:Age of Onset; D001369:Axons / Q000473:pathology; D001706:Biopsy; D004594:Electrophysiology; D017809:Fatal Outcome; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology*; D011782:Quadriplegia / Q000209:etiology; D012121:Respiration, Artificial; D012131:Respiratory Insufficiency / Q000209:etiology; D013116:Spinal Cord / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology*