The MRI findings in four children aged 3 to 10 years with infantile neuroaxonal dystrophy are reported from the Chiba Children’s Hospital, Japan. T2 - weighted images showed bilateral diffuse hyperintensity of the cerebellar cortex and cerebellar atrophy. Autopsy changes in one patient included cerebellar atrophy, ventricular dilatation, spheroids in the gray matter, loss of neurons, axonal swellings, and extensive astrogliosis. [1]
COMMENT. The authors comment that these MRI findings may be specific to infantile neuoaxonal dystrophy and permit early diagnosis. The clinical picture includes upper and lower motor neuron deficits, including progressive weakness, difficulty in walking, hypotonia, muscle atrophy, hyperactive reflexes, Babinski signs, and optic atrophy. Diagnosis is confirmed by peripheral nerve biopsy, which shows globular swellings on the axons. Axonal swelling may also occur in Hallervorden-Spatz disease, Friedreich’s ataxia, and other neuro-degenerative diseases, however.