A case of metachromatic leukodystrophy with characteristic white matter lesions

Abstract

Here we present the case of a 34–year–old female patient who developed difficulty in managing her finances since the age of 32 years, and later had memory impairment at age 33 years. At age of 34 years, she experienced dizziness on walking, and visited the emergency department after stumbling and falling while walking. Brain MRI revealed symmetric extensive abnormal signal areas in the deep white matter of the cerebrum, and she was therefore referred to our department. Her Mini–Mental State Examination score was 29 and Frontal Assessment Battery score was 14, and deep tendon reflexes in the upper and lower limbs were hyperactive. Blood laboratory data and spinal fluid tests were all normal. T2–weighted images revealed a linear, relatively low signal intensity area within the white matter lesion, suggestive of a tigroid pattern. Nerve conduction studies revealed peripheral neuropathy suggestive of demyelination. Based on the results of previous examinations, we suspected adult–onset leukodystrophy. Subsequently, the patient was diagnosed with metachromatic leukodystrophy (MLD) after measuring arylsulfatase A in white blood cells and performing a genetic test. The tigroid pattern on MRI is useful in differentiating diseases presenting with white matter lesions.