A case of infantile Tay-Sachs disease with late onset spasms
Epilepsy is known to be associated with Tay-Sachs disease (TSD); however, no detailed reports are available. This case report aimed to present the clinical features of late onset spasms (LOS) in a patient with infantile TSD, and to elucidate the pathophysiology leading to LOS, using proton magnetic resonance spectroscopy (MRS).
Source: Brain and Development - Category: Neurology Authors: Naohiro Yamamoto, Ichiro Kuki, Shizuka Nagase, Takeshi Inoue, Megumi Nukui, Shin Okazaki, Yasuko Furuichi, Kaori Adachi, Eiji Nanba, Norio Sakai, Hisashi Kawawaki Tags: Case Report Source Type: research