ABNORMAL MR SIGNALS IN THE CEREBELLAR CORTEX IN MARINESCO-SJÖGREN SYNDROME

Objective: To describe a twin pair with Marinesco-Sjögren syndrome (MSS) with special cerebellar MRI findings. MSS is a rare autosomal recessive multiorgan disorder characterized clinically by cerebellar ataxia, mental retardation, myopathy, and early bilateral cataracts. Genetically the MMS locus has been mapped to chromosome 5q31.

Methods: A female twin pair, now 12 years old, was examined first at the age of 18 months because of ataxia, muscle hypotonia, slightly raised serum creatine kinase, and psychomotor delay. EMG was myopathic as was the muscle biopsy. Initially they got the diagnosis congenital muscular dystrophy. The clinical findings, however, did not fit with this diagnosis. On brain MRI, the most pronounced finding was a very high T2 signal intensity of the cerebellar cortex. The signal intensity was low on T1-weighted images. The vermis was small. The MRI findings were unchanged when the twins were examined at the age of 4 years. At this age they were also operated for cataract bilaterally. Reinvestigation of the muscle biopsy revealed rimmed vacuoles. Thus, all signs and symptoms indicated MSS. The diagnosis has recently been confirmed genetically.

Conclusion: A high T2 signal in the cerebellar cortex has only been described in infantile neuroaxonal dystrophy, which is clinically entirely different from MSS, and recently also in three patients with MSS. This infrequent MRI finding may be very helpful in the diagnosis of MSS.