Cervicothoracic myelopathy in Conradi-Hunermann disease: MRI diagnosis.

A 10-year-old boy with Conradi-Hunermann disease diagnosed at birth who developed progressive myelopathy is presented. Despite the many descriptions of Conradi-Hunermann disease in infants and young children, long-term follow-up of this disease is rarely reported. Magnetic resonance imaging (MRI) played a critical role in the diagnosis of this patient's rare neurological dysfunction by demonstrating bony deformity and associated cord compression at the cervicothoracic junction. This area is often difficult to evaluate by conventional radiographic techniques.