A case of facio-scapulo-humero-peroneal myopathy with inflammatory changes. Preliminary data on distribution of mononuclear cells in muscle tissue.

We report the case of a 49 year old woman with clinical, electrophysiological and histochemical signs of facio-scapulohumeroperoneal dystrophy characterized by highly inflammatory changes. Lymphocyte typing by immunofluorescence and immunoperoxidase techniques on a muscle biopsy fragment revealed a large number of T8 cells at endomysial sites. There was no evidence of direct invasion of sound fibers by lymphocytes, which are thus unlikely to have exerted a primary cytotoxic action on the muscle tissue. Another finding was an increased number of macrophages in both endomysial and perivascular regions. Cell-mediated immunity did not play a significant role in the pathogenesis of our case, unlike other reported cases of polymyositis and facioscapulohumeral dystrophy with inflammatory findings.

Steroid myopathy: clinical and immunohistochemical study of a case.

A 42 year old woman with foot process disease, was treated with corticosteroids for 6 years. She had been suffering, for about 3 years from progressive muscle weakness of the limbs, accompanied by general paresthesia, cramps of the calves and burning muscle pain both at rest and an effort. The clinical, neurophysiological and histochemical examination indicated noninflammatory myopathic damage. The progressive reduction of corticosteroid dosage led rapidly to a distinct improvement, but not to a remission, of symptoms. Clinical and laboratory findings were consistent with those observed in most cases of steroid myopathy described in literature. We discuss the possible pathogenetic role of corticosteroids in this affection.

Myopathy associated with AIDS.

We report 3 cases of AIDS complicated by muscular disease: 2 with acute polymyositis and 1 with severe noninflammatory myopathy. Tests for an alternative infectious etiology were negative. HIV may well have a tropism for muscle tissue.

The idiopathic hypereosinophilic syndrome. Clinical, electrophysiological and histological study of a case.

A case of idiopathic hypereosinophilic syndrome (HES) is reported. The disease started at the age of 31, with polyneuropathic-like symptoms and disorders of the gastrointestinal tract. Hypereosinophilia and leukocytosis were observed. Instrumental investigation of the digestive tract showed esophagitis, a peptic ulceration, signs of chronic rectocolitis. Charcot-Leyden crystals were present in feces. Peripheral nervous system changes were seen with EMG and nerve conduction studies. Muscle biopsy findings were in agreement with the electrophysiological data and showed inflammatory abnormalities. Qualitative histology and teased nerve fiber studies of sural nerve indicated axonal degeneration. Protein substances derived from eosinophils degranulation may account for the disturbances observed in various systems and organs.

[Genetic, histochemical and ultrastructural study of a family with peculiar clinical expression of spinal muscular atrophy. Importance of biopsy examination in the detection of heterozygotes]. / Studio genetico, istochimico e ultrastrutturale di una famiglia con peculiare espressività clinica di atrofia muscolare spinale. Importanza dell'esame bioptico per la ricerca degli eterozigoti.

A clinical, histologic and ultrastructural study of a woman suffering for a slight form of spinal muscular atrophy and his heterozygotic husband is reported. The woman is daughter of kindred and her brothers have variable clinical manifestation of the disease. Therefore the genetic theory of the "three allels" is emphasized. The presence of histochemical changes in the muscular biopsy of the husband proposes the problem of the existence of tests for the heterozygosis in this disease.

[Apropos of a case of myopathy with histologic and electrophysiologic findings of both a myogenic and neurogenic nature]. / A proposito di un caso di miopatia con reperti istopatologici ed elettrofisiopatologici di natura sia miogena che neurogena.

The authors describe the case of a 36 years old woman suffering from muscular weakness with proximo-distal distribution to legs, and proximal to arms. The disease, appeared during the third decade of life, is slowly becoming more serious. Hematochemical analyses are all within a normal standard; EMG and histopathologic findings prove the existence of both a protopathic and neurogenic trouble in studied muscles. A therapy based on prednisone (50 mg/die) and ACTH (1 mg each 5 days) for a fourty days period doesn't cause essential changes in symptomatology. A cousin (on her mother's side) of our patient suffers from probable "sporadic distal myopathy". The authors discuss if the disease, shown by this patient, may be considered as an atypical form of SDM or if, what appears more probable, it must be nosographically framed as "scapuloperoneal atrophy".