Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate clinical and imaging features of a patient with adult-onset Krabbe disease and to detect the underlying genetic mutations.</p><p><b>METHODS</b>Clinical and cranial MRI features of the patient were analyzed. Pathogenesis, clinical manifestation, cranial MRI features and diagnostic criteria for the disease were discussed.</p><p><b>RESULTS</b>The patient had presented asymmetric limb weakness and difficulty in walking. Electromyography suggested peripheral nerve demyelination. Cranial MRI showed increased signal intensity in white matter with involvement of the corticospinal tracts. Screening of GALC gene mutation has found the patient to be heterozygous for T1685C (Ile562Thr) and homozygous for A1921G (Thr641Ala), both of which were considered to be polymorphisms. In addition, he was heterozygous for G136T (Asp46Tyr), which had not been described previously.</p><p><b>CONCLUSION</b>Clinical manifestations of adult-onset Krabbe disease may be atypical. Cranial MRI and galactocerebroside activity assay should be carried out for patients featuring chronic progressive corticospinal tract injury. An Asp46Tyr mutation probably underlies the disease in the current case.</p>