Silver syndrome : case report
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Neurologia i neurochirurgia polska / Erich schmidt verlag. - Copenhagen
, p. 562-566
University of Antwerp
Silver syndrome (Silver spastic paraplegia syndrome) is a rare disorder of the peripheral nervous system that combines features of spastic paraparesis and peripheral neuropathy. The Underlying genetic defects are two mutations in the BSCL2 gene which have been described in several families. Silver syndrome related to the N88S mutation In the BSCL2 gene is characterized by a spectrum of clinical findings. The coexistence of sensory fiber damage and motor deficit leads to the diagnosis of Charcot-Marle-Tooth disease in some patients, while others are diagnosed with spastic paresis due to predominant pyramidal symptoms. If the symptoms are limited to the motor deficit, hereditary motor neuropathy is diagnosed in some cases. In this report, we describe a case of the Silver syndrome in a Polish family that has been verified by genetic testing. Due to the lack of pyramidal symptoms and slightly expressed sensory fiber damage (in neurographic studies), motor neuropathy type of the Silver syndrome with minor sensory component was diagnosed.