Kenjiro Masuda

Interferon Alpha-2a Therapy for Disseminated Intravascular Coagulation in a Patient with Blue Rubber Bleb Nevus Syndrome A Case Report

The authors present a sixteen-year-old girl with blue rubber bleb nevus syndrome (BRBNS) associated with disseminated hemangiomas involving the skin, oral cavity, skeletal muscle, and cerebrum. Although she denied neurologic symptoms, magnetic resonance imaging of the brain demonstrated dilatated cerebral veins and the Chiari I malformation. Examination of hemostasis revealed disseminated intravascular coagula tion (DIC) manifesting as Kasabach-Merritt syndrome, with the potential for life-threat ening bleeding or thrombosis in the central nervous system. Since successful management of life-threatening hemangiomas with interferon alpha-2a (IFN α-2a) has been reported, the authors administered IFN α-2a with an improvement in hemostasis. These findings suggest that IFN α-2a therapy is beneficial for relieving the life-threatening consumptive coagulopathy associated with BRBNS.

Involvement of mitochondria in myasthenia gravis complicated with dermatomyositis and rheumatoid arthritis: a case report

We report a 57-year-old male with myasthenia gravis complicated with dermatomyositis and rheumatoid arthritis without evidence of thymoma. He showed prominent muscle wasting and weakness in the four extremities and trunk in addition to swallowing disturbance. He showed intolerance to exercise on a bicycle ergometer, and muscle biopsy specimens demonstrated ragged-red fibers. An anti-acetylcholine receptor (AChR) antibody was detected in his serum but no anti-mitochondrial M2 component antibody was found. In contrast, results of immunohistochemical study indicated that his serum sample reacted to muscle mitochondria as well as AChR. These results indicate the presence of an unidentified anti-mitochondrial antibody that may be involved in the development of mitochondrial dysfunction in skeletal muscle of the present patient.

Skeletal muscle pathology of mannosidosis in two siblings with spastic paraplegia

SummaryDeficiency of α-d-mannosidase was found in two siblings with muscle weakness and spastic paraplegia. A biopsy of the vastus lateralis muscle was studied by light and electron microscopy. Cryostat sections showed mild fiber size variation but no necrosis. Semithin Epon sections revealed many vacuoles in the muscle cells and fibroblasts. Electron microscopy showed that the vacuoles, presumably lysosomal, had a single limiting membrane and contained finely granular or granulo-reticular material, membranous structures, and electron-dense ovoids. The vacuoles were identical with those in lymphocytes and other cells of patients with mannosidosis. Disorganization of sarcomere alignment and widening of intermyofibrillar spaces were also observed. Deficiency of α-d-mannosidase is considered to cause slowly progressing degeneration of muscle fibers.

Isozyme pattern of leukocyte α-d-mannosidase in patients with mannosidosis

SummaryThe isozyme patterns of leukocyte α-d-mannosidase in two sisters with mannosidosis, their parents and a patient with trisomy 19 were studied. The isozyme pattern of liver mannosidase of a normal subject was also studied. In the patients with mannosidosis the neutral isozyme (isozyme C or fraction C) was present, but the acidic isozymes (isozyme A and B or fraction A and B) were not detectable. In their parents the activity of the acidic isozymes was one-third of the normal activity. These findings suggest that the patients are homozygous and their parents are heterozygous in terms of deficiency of acidic isozymes. In the patients with trisomy 19, the activity of α-d-mannosidase was 4.9 times the upper limit of the normal value, while the levels of other lysozomal enzymes were normal. This increase was mainly due to increases of the A and B isozymes of mannosidase. This finding suggests that the gene encoding acidic isozymes, but not that encoding the neutral isozyme, is located on chromosome 19. The isozyme pattern of α-d-mannosidase differed in different tissues of normal subjects, and the difference in severity of lesions in different organs of the patients with mannosidosis could be explained by differences in the isozyme patterns of the enzyme in these organs.

Hypertrophic pachymeningitis with cranial nerve palsy spreading subsequently

患者は65歳,女性.嗄声・嚥下障害で発症し,順次脳神経症状が上行拡大した後,意識障害を呈した. Gd造影頭部MRIで著明に肥厚した脳硬膜を認め,硬膜生検より肥厚性硬膜炎と診断した.ステロイドパルス療法により意識障害は速やかに回復し,脳神経麻痺も眼球運動から順次改善した.各種の自己抗体が陽性で,ステロイドが著効を示したことより,発症に自己免疫の関与が示唆された.

[Amyloidoma of bone: a case report and a review of the literature].

症例は54才,女性で,横断性脊髄障害と骨硬化性の縁どりをもつ多発性骨融解像があり,骨シンチでRI集積が観察された.血中にIgのM成分なく,尿中に微量のκ-BJPが同定された.骨病変部は形質細胞増殖をともなう塊状のAL型アミロイドに置換され,形質細胞内にIgA・κが検出された.経過は11年と長く,従来のAL型アミロイドーシスとは著しく異なる病像を呈した.類似の文献例は22例あり,骨髄腫に合併した例と,原発性アミロイドーシスの例がある.中高年令層の男性に多く,長期の経過をとっている. IgのM成分は5例で記載され,すべてκ型であつた.本例と文献22例は骨アミロイド腫amyloidomaと称すべきAL型アミロイドーシスの一亜型と考えられる.