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Progressive infantile axonal polyneuropathy
T J Geller1, A M Connolly, S Kotagal
1Department of Neurology, Cardinal Glennon Children's Hospital, Saint Louis University, Health Sciences Center, MO, USA.
Insights
This study identifies a rare, progressive axonal polyneuropathy in infants presenting shortly after birth. Early recognition is crucial due to rapid quadriplegia and respiratory compromise in this infantile neuropathy.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Polyneuropathies in infancy are rare, often presenting as hypomyelinating neuropathies.
- Axonal sensorimotor neuropathies typically appear later in childhood with nonprogressive courses.
Observation:
- Three infants from two families presented with a rapidly progressing axonal polyneuropathy shortly after the neonatal period.
- Clinical signs included quadriplegia and involvement of cranial and phrenic nerves.
Findings:
- Electrophysiology confirmed the diagnosis in all affected infants.
- The condition was distinguished from spinal muscular atrophy through clinical, biopsy, and genetic evaluations.
- Familial inheritance was noted in two of the three cases.
Implications:
- This early-onset progressive axonal polyneuropathy requires prompt recognition due to severe, rapid progression.
- Early identification is vital for managing respiratory compromise and understanding the genetic basis of infantile neuropathies.
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.