A case of biopsy-proven leptomeningeal amyloidosis and intravenous Ig-responsive polyneuropathy associated with the Ala25Thr transthyretin gene mutation.
A growing body of literature has described familial leptomeningeal amyloidosis, a rare phenotype resulting from deposition of transthyretin (TTR) amyloid within the leptomeninges. We report herein the case of a patient with leptomeningeal amyloidosis presenting with hearing loss, asymmetrical polyneuropathy and sensory ataxia. This is the first Japanese case displaying TTR mutation at codon 25, replacing alanine with threonine. Neurophysiological examinations suggested demyelinating polyradiculoneuropathy, which improved dramatically after high-dose intravenous immunoglobulin treatment. Demyelinating polyneuropathy in our patient may be attributable to massive leptomeningeal amyloidosis, and no systemic organ involvement was identified. These characteristic clinical manifestations may have resulted from the Ala25Thr TTR gene mutation.
Shimizu
Yuko
Y
Department of Neurology, Neurological Institute, Tokyo Women's Medical University School of Medicine, Tokyo, Japan. yshimizu@nij.twmu.ac.jp
Takeuchi
Megumi
M
Matsumura
Miyuki
M
Tokuda
Takahiko
T
Iwata
Makoto
M
D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D017772:Amyloid Neuropathies / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D000686:Amyloidosis / Q000175:diagnosis / Q000473:pathology*; D001921:Brain / Q000473:pathology; D001933:Brain Stem / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use*; D008297:Male; D008578:Meninges / Q000473:pathology*; D008875:Middle Aged; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics*; D013912:Threonine / Q000235:genetics
D016756:Immunoglobulins, Intravenous; D011228:Prealbumin; D013912:Threonine; D000409:Alanine