Peripheral nerve enlargement and hyperechogenicity in patients with X-linked adrenoleukodystrophy using high-resolution ultrasound.

Background: Peripheral neuropathy is observed in patients with X-linked adrenoleukodystrophy (x-ALD). High-resolution ultrasound (HRUS) can provide valuable insights into peripheral nerve pathology.

Methods: Patients and controls in a 1:3 ratio underwent HRUS of peripheral nerves in the arms and legs. Cross-sectional area (CSA), Ultrasound Pattern Sum Score (UPSS), nerve echogenicity, and nerve homogeneity were measured. Additionally, all patients underwent clinical examinations as well as nerve conduction studies.

Results: The study included 51 patients (34 male, 17 female) and 18 age- and sex-matched controls with female patients being significantly older. 43 patients presented with clinical signs of polyneuropathy. 47 patients presented with abnormalities on nerve conductions studies with changes consistent with a mixture of axonal as well as demyelinating patterns. On HRUS, most peripheral nerves exhibited significantly larger mean CSA-values. The UPSS was notably greater in X-ALD patients than in controls (3.7 points vs 1.8 points, p = 0.026). A higher UPSS was significantly associated with a more hyperechoic nerve structure (r = -0.482, p < 0.001).

Conclusion: This study reveals significantly enlarged peripheral nerves in X-ALD patients. Moreover, a correlation between enlargement and increasing hyperechogenicity was observed.

Significance: This study provides an approach to enhance the understanding of polyneuropathic changes in patients with X-ALD.