title: [Two adult cases of nemaline myopathy presenting different clinical symptoms and CT findings].
abstract: We report herein two cases of nemaline myopathy which showed peculiar muscle involvement and clinical symptoms. Case 1: A 44-year-old woman had developed gradual woresening of muscle weakness. Neurologically, only flexion of her neck was found to be weak. Her muscular CT revealed mild atrophy of four extremities and the sternocleidomastoid muscles. Histological examinations with Gomori-trichrome staining revealed tiny structures whose form was compatible with nemaline rods. Moreover, electronmicroscopic examination demonstrated the lattice pattern of electron-dense structures, and they also appeared to possess structural continuity with the Z-band. Case 2: A 56-year-old woman visited our department because of neck pulsations. Neurological examinations revealed bilateral hearing disturbance, marked atrophy of neck muscles, muscle weakness in four extremities and hypoactive deep tendon reflexes. She also exhibited steppage and waddling gaits. Her muscular CT demonstrated degenerative processes in the neck muscles(splenius muscles and semispinal muscles), trapezius muscles, para-spinal muscles, deltoid muscles and gluteal muscles. Among them, the para-spinal muscles and extensor muscles of the lower limbs showed marked degeneration and had been partly replaced by fatty tissues. A muscle biopsy was performed, and the presence of nemaline rods was confirmed by Gomori-trichrome staining. Although these two cases could be diagnosed as nemaline myopathy, the clinical symptoms and muscular CT findings were not quite the same. Whether these differences might simply indicate different clinical phases during the disease progression or be of further pathogenic significance still remains unclear. Additionally, since long-term follow-up studies of nemaline myopathy are quite rare, further follow-up examinations of these cases are necessary in order to understand the clinical and pathological alterations of nemaline myopathy.
authors.affiliation: Department of Neurology, Sapporo City General Hospital, N-11, W-13, Chuo-ku, Sapporo 060-8604, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Tajima
authors.forename: A
authors.initials: A
authors.lastname: Yoshida
authors.forename: S
authors.initials: S
authors.lastname: Ura
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology; D017696:Myopathies, Nemaline / Q000145:classification / Q000175:diagnosis* / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed