A case of childhood stiff-person syndrome with striatal lesions: A possible entity distinct from the classical adult form

• DOI: 10.1016/j.braindev.2012.08.003
• Publication Date: 2012-09-01T01:03:20Z
• Authors: Masafumi Sanefuji; Hiroyuki Torisu; Ryutaro Kira; Hiroshi Yamashita; Kazuna Ejima; Hiroshi Shigeto; Yui Takada; Keiko Yoshida; Toshiro Hara
• Keywords: Lethargy; Tomography, Emission-Computed, Single-Photon; Obsessive-Compulsive Disorder; Immunoglobulins, Intravenous; Stiff-Person Syndrome; Magnetic Resonance Imaging; Corpus Striatum; 3. Good health; 03 medical and health sciences; Diffusion Magnetic Resonance Imaging; 0302 clinical medicine; Humans; Female; Child

Parainfectious or autoimmune striatal lesions have been repeatedly described in children. We report a 7-year-old girl with painful muscle spasms, leading to the diagnosis of childhood stiff-person syndrome (SPS). Striatal lesions were demonstrated by diffusion-weighted magnetic resonance imaging (MRI) and single-photon emission computed tomography but not by conventional MRI. Autoantibodies against glutamic acid decarboxylase (GAD) were absent. Steroid pulse therapy and high-dose intravenous immunoglobulin resolved all the symptoms with slight sequelae. Childhood SPS may be characterized by absent anti-GAD antibodies and a transient benign clinical course, and it may have a pathomechanism distinct from that in adult SPS.