(mentions CMT) Silver syndrome - case report

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Neurol Neurochir Pol. 2007 November-December;41(6):562-566.

Silver syndrome - case report

Kocha & #324;ski A, Dierick I, Timmerman V, Hausmanowa-Petrusewicz I.

Zespó³ Badawczo-Leczniczy Chorób Nerwowo-Miêoeniowych, Instytut

Medycyny Dooewiadczalnej i Klinicznej im. M. Mossakowskiego Polskiej

Akademii Nauk, ul. A. Pawiñskiego 5, 02-106 Warszawa, tel./faks +48

22 658 45 01

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-Marie-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.