Peripheral neuropathy in a child with Cree leukodystrophy.

The authors describe peripheral nerve involvement in a 12-month-old boy with Cree leukodystrophy. Nerve conduction and genetic studies were performed during investigation of his leukodystrophy. Mutation analysis of the eukaryotic initiation factor 2B5 gene detected homozygosity of the R195 mutation, confirming the diagnosis of Cree leukodystrophy. Median and posterior tibial motor nerve conduction study results were normal, but sensory responses in the median nerves were unobtainable bilaterally, in keeping with a sensory axonal neuropathy. Somatosensory-evoked potentials were absent in the upper extremities and delayed in the lower extremities, confirming sensory nerve involvement. This degree of sensory nerve involvement has not been previously reported in patients with eukaryotic initiation factor 2B5-related disorders. Peripheral neuropathy should be looked for both clinically and with electrodiagnostic studies in patients with eukaryotic initiation factor 2B-related disorders.

Mineralization of the deep gray matter with age: a retrospective review with susceptibility-weighted MR imaging.

BACKGROUND AND PURPOSE: Susceptibility-weighted imaging (SWI) is an advanced MR imaging sequence that can be implemented at high resolution. This sequence can be performed on conventional MR imaging scanners and is very sensitive to mineralization. The purpose of this study was to establish the course of mineralization in the deep gray matter with age by using SWI. MATERIALS AND METHODS: We retrospectively reviewed susceptibility-weighted images of 134 patients (age range, 1 to 88 years). Inclusion criteria comprised a normal conventional MR imaging (T1, T2, and fluid-attenuated inversion recovery sequences). We statistically analyzed the relative signal intensities of the globus pallidus, putamen, substantia nigra, caudate nucleus, red nucleus, and thalamus for correlation with age. The putamen was graded according to a modified scale, based on previous work that described a systematic pattern of mineralization with age. Bands of hypointensity in the globus pallidus, dubbed "waves," were also evaluated. RESULTS: We documented decreasing intensity (ie, increasing mineralization) with age in all deep gray matter areas analyzed. We confirmed the age-related posterolateral to anteromedial progression of mineralization in the putamen. Characteristic medial and lateral bands of mineralization were exhibited in the globus pallidus in all children and young adults older than 3 years. Finally, an increase in the number of "waves" present in the globus pallidus was associated with increased age by category. CONCLUSION: This study documents the course and pattern of mineralization in the deep gray matter with age, as determined by SWI. These findings may play a role in evaluating diseased brains in the future.