Leukoencephalopathy with metaphyseal chondrodysplasia

Aims: White matter disorders with hypomyelination are frequent and frequently remain without definitive diagnosis. MRI pattern recognition can help in classifying these heterogeneous disorders, but equally important are clinical signs as hypodontia or cataract. Leukoencephalopathy with metaphyseal chondrodysplasia is a recently described new entity with slowly progressive neurodegenerative course. Inheritance is probably X-chromosomal, the responsible gene is not yet identified. The diagnosis is made on clinical grounds with cranial MRI and skeletal radiography revealing hypomyelination and metaphyseal chondrodysplasia. Clinical presentation includes slow motor deterioration from the age of two to three years. The patients develop spastic paraplegia, tremor and progressive visual impairment. The bony abnormalities are clinically described as broad knees and wrists.

Methods: We report a four year old twin boy whose psychomotor development was normal in the first year. In the second year, he showed a progressive developmental delay and even loss of some motor functions. He developed spastic paraplegia, action tremor, ataxia and pendular nystagmus. At the age of three years growth retardation was noted.

Results: The cranial MRI showed hypomyelination and radiography of the wrists metaphyseal chondrodysplasia

Conclusion: This latter finding allowed us to classify his disease as leukoencephalopathy with metaphyseal chondrodysplasia.

leukoencephalopathy - hypomyelination - metaphyseal chondrodysplasia