Cerebral and Spinal Anomalies in One Monochorionic Twin with Schimmelpenning-Feuerstein-Mims Syndrome

Background: Schimmelpenning-Feuerstein-Mims syndrome (SFM) is a neurocutaneous disorder with nevus sebaceous in association with cerebral, ocular or skeletal defects. Postzygotic HRAS (chromosome 11p15.5) and KRAS (chromosome 12p12.1) mutations can be found in the lesions.

Case Report: We report a 2-year-old boy, born preterm by cesarian section after complicated twin pregnancy because of fetofetal transfusion syndrome. He presented with multiple nevus sebaceous predominantly on the right side of the head and thorax and with a malformation of the right bulbus oculi and eyelid. HRAS mutation was found in the naevi. Because of cyanotic attacks, a tracheostoma and a percutaneous endoscopic gastrostoma were necessary at the age of 6 months. When he was 11 months old, he developed focal seizures partly with generalization. The cerebral MRT showed malformation with polygyria, nearly absent myelinization, signs of atrophy, a cystic defect of the right occipital lobe, and enlarged cervical nerve roots. A MRT of the whole spine was performed. It showed increased thickness of the nerve roots cervical, thoracal and lumbar and three lipomas extramedullary. The boy is developmentally retarded, but is able to grasp with both hands and he can move both legs without signs of spinal cord compression. The epilepsy is controlled by ketogenic diet in combination with topiramate and levetiracetam.

Result: We describe the first patient with SFM syndrome confirmed by genetic analysis with enlargement of all nerve roots. The prognosis with regard to spinal compression of this patient is unclear.