Introduction

Early onset axonal neuropathies are a rare group of disorders associated with muscle weakness and early mortality. It is often difficult to elucidate an exact genetic mutation, largely due to a wide range of possible mutations.  This poses ethical dilemma for professionals and families, in continuing (or withdrawing) intensive care due to scarce information regarding prognosis.

Methods

Review of case notes, investigations, clinical history and examination of patients.

Case Series

We present the clinical presentations, neurophysiological findings, and course of four infants with severe axonal neuropathy. All four infants presented within the first few weeks of life with poor feeding and or respiratory difficulties.  Two needed assisted ventilation, one from birth and the other from 3 months of age, until the point they died.  Neurophysiology showed purely motor axonal neuropathy in two infants and a sensorimotor axonal neuropathy in the other two. MRI of brain and spine were normal in three cases and showed cerebellar hypoplasia in one. Three of them died between 4 and 6 months and one survives with significant weakness at sixteen months. Extensive genetic investigations did not reveal any specific mutation. Nerve biopsy was performed in two of them; one showed giant axonal neuropathy and the other showed axonal neuropathy with no other diagnostic features.

Conclusion

This paper highlights the high rate of early mortality and the extremely low chance of finding a definitive cause in axonal neuropathies in infants. It also addresses the ethical issues that families and professionals face in managing such infants.