[Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease].

[krabbe disease]

To investigate clinical and imaging features of a patient with adult-onset Krabbe disease and to detect the underlying genetic mutations .Clinical and cranial MRI features of the patient were analyzed . Pathogenesis , clinical manifestation , cranial MRI features and diagnostic criteria for the disease were discussed .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 T 1685 C (Ile 562 Thr ) and homozygous for A 1921 G (Thr 641 A la ), both of which were considered to be polymorphisms . In addition , he was heterozygous for G 136 T (Asp 46 Tyr ), which had not been described previously .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 Asp 46 Tyr mutation probably underlies the disease in the current case .