Megumi Takeuchi

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.

Sporadic late-onset nemaline myopathy in a patient with primary Sjögren's syndrome.

Nemaline myopathy is a rare disorder defined by the presence of nemaline rods in muscle fibers. Adult forms are known as sporadic late-onset nemaline myopathy (SLONM) [1, 2]. We report the first case of SLONM associated with primary Sjogren’s syndrome (PSjS). A 58-year-old woman without family history of musculoskeletal disease presented with progressive muscle weakness over the course of 2 years. She had severe difficulty walking and holding her head up, and was unable to rise from a chair. She also presented with dry eyes and mouth. Laboratory investigations revealed normal CK, absence of anti-AChR antibodies, and negative viral serology, including HIV. Level of IgG was mildly elevated without monoclonal gammopathy of undetermined significance (MGUS). Anti-SS-A/Ro antibodies were elevated at 295 U/ml. A salivary-gland-biopsy revealed lymphocytic sialoadenitis. Electromyography revealed myopathic motor unit potentials with fibrillation potentials and positive sharp waves (PSW) in the four limbs. Nerve conduction studies were normal. Left-quadriceps-muscle-biopsy revealed variation of muscle fiber diameter with scattered atrophic fibers, and no inflammatory cell infiltration. On hematoxylin-eosinstaining, some muscle fibers contained eosinophilic granules. Modified Gomori-trichrome-stained section showed variable rods in more than half of the muscle fibers. Only a few rods were crisply rod-shaped and many were somewhat irregular and punctuate. Severely affected fibers were small and occasionally vacuolated. NADH-TR-stained section revealed lobulated fibers, many of them were type 1 fibers. Fiber type proportions were normal. Electronmicroscopic image showed variable rods, some arising from the Z-discs (Fig. 1). No amyloid was detected. Genetic analysis was not performed. A diagnosis of SLONM with PSjS was made. Neck weakness and sicca syndrome were improved with prednisolone. Residual weakness was improved with intravenous immunoglobulin (IVIg, 0.4 g/kg/day for 5 days). She was eventually able to walk with a cane and rise from a chair without assistance. Fibrillation potentials and PSW in electromyography disappeared. Anti-SS-A/Ro antibodies were decreased at 49.9 U/ml. Symptomatic myopathy in PSjS is rarely reported in association with hypothyroidism or renal tubular acidosis [3–5]. Myositis is noted in secondary SjS patients, although muscle biopsy findings are quite variable. In our patient, these conditions were excluded by laboratory examinations. Etiology of SLONM is unclear. Because some cases of SLONM are associated with MGUS [2, 6, 7], and some occur in the early immunocompetent period of HIV infection [8, 9], an immune dysregulation or an unrecognized viral trigger have been suspected [2, 10]. Our patient developed muscle weakness and sicca syndrome simultaneously, which improved with immunotherapy. Nemaline rods were the predominant findings and features of other etiologies were absent. We believe the primary diagnosis to be SLONM, and suspect that immunological abnormalities may have played a role in the development of both PSjS and SLONM. HIV-associated SLONM has been noted to respond to therapy with prednisone or plasmapheresis [11–13], or a combination of IVIg [14], whereas a concomitant MGUS leads to a very poor prognosis [2]. However, two patients with non-HIV SLONM/MGUS were recently reported to M. Suzuki (&) Y. Shimizu M. Takeuchi M. Kobayashi M. Iwata S. Uchiyama Department of Neurology, Tokyo Women’s Medical University, 8-1 Kawadacho Shinjuku-ku, Tokyo 162-8666, Japan e-mail: suzukimiki@nij.twmu.ac.jp

21. Comparison of methods to evoke nogo ERPs

the R–R conditions, oxygenated hemoglobin concentration (OxyHb) started to increase approximately 120 s after the task onset, and the increase was larger in the F–F condition than in the R– R condition. The difference was considered to reflect the active process to inhibit responses to the rare non-targets in the F–F condition where the subjects were required to respond semi-automatically to most stimuli. In the F–R and the R–F conditions, Oxy-Hb increased soon after the target probabilities were changed. The increases were assumed to reflect prefrontal cortex activation by shifting of motor response strategy according to target probabilities.

Immune neurologic disease. Peripheral nerve disease. Disease state and treatment of the angiitis neuropathy.

血管炎性ニューロパチーは血管炎症候群の中で中・小型血管を傷害する結節性多発動脈炎(PN)や慢性関節リウマチ(RA)などに伴うことが多い.臨床像は多発性単ニューロパチーで四肢の非対称的な運動感覚障害であり,末梢神経伝導検査では活動電位の振幅の低下や消失を認める.病理所見は軸索変性を主体とし,虚血性変化と考えられている.近年抗好中球細胞質抗体(ANCA)の発見や免疫学的研究の進歩などにより血管炎についての新知見が得られ,それに伴って血管炎性ニューロパチーについても見直しの時期に来ている.

A case of pachygyria associated with total hemiatrophy and partial epilepsy

身体半側萎縮症と部分てんかんを合併したpachygyriaの1例を報告する.症例は34才,女.小児期より軽い跛行が出現し,左上下肢が右側に比し細く短いのを自覚していた.昭和50年より時々左身体抑制発作が出現.昭和58年2月妊娠中に同発作が頻回となり,突然左姿勢発作が出現し,てんかん重積状態となつたため入院.臨床所見として左身体半側萎縮を認めた.頭部CT,および脳血管撮影において,右Sylvius裂・弁蓋部の形成不全とともに,右prefrontalよりprecentral regionにかけて皮質・脳回の肥厚を認め,頭部dynamic CTにて肥厚部が皮質と同様の時間-吸収値曲線を示すことから他の健常な皮質と同質と推測し,同部位に限局したpachygyriaと診断した.また,身体の萎縮側で皮膚温低下.発汗低下.指尖容積脈波上中枢性の細動脈反応の低下があり,筋生検ではtype II atrophyを認めた.従来, pachygyriaの生前診断は困難とされていたが,近年CT技法の発達に伴い数例の報告がみられるようになり,本症例の如く頭部dynamic CTをも用いることで診断は可能となつた.合併症については,部分てんかんの責任病巣はpachygyriaの部位と一致した.本症例のtype II atrophyはpachygyriaによる錐体路起始部の障害と関連があると考えられ,一方,自律神経障害を介しpachygyriaが半側萎縮症の成因となつた可能性が示唆された.本症は,形態的な奇形であるpachygyriaに対応する機能障害を呈した貴重な症例と考えられる.