Peripheral nerve ultrasound findings in mucolipidosis type 3

The mucolipidoses are rare autosomal recessive lysosomal storage disorders. Neurologic involvement in these conditions is generally thought to be limited to cognitive delay and entrapment neuropathies (primarily carpal tunnel syndrome). We sought to evaluate peripheral nerves in this condition using nerve ultrasound.

We performed peripheral nerve ultrasound in two siblings with genetically confirmed mucolipidosis type 3 (alpha/beta).

Peripheral nerves in mucolipidosis type 3 (alpha/beta) exhibit multifocal enlargement.

The peripheral nerve ultrasound has a role in the evaluation of this, and possibly other lysosomal storage disorders.