[Sporadic distal myopathy]. / Sporadicheskaia distal'naia miopatiia.

The presented description of two cases of sporadic distal myopathy represents the first report on this disease published in the national literature. The clinical picture of the disease was consistent with that of five patients with this disease entity described in the world literature and was characterized by the disease onset in young age expressed in the form of distal muscular atrophies, a dramatic increase in the activity of serum creatine kinase, with electromyographic, histologic and electron microscopic findings indicating the presence of the myopathic process. A differential diagnosis from other diseases manifesting themselves in distal muscular atrophies is also outlined.

[Ophthalmoplegia-plus (multisystem mitochondrial cytopathy) in childhood]. / Oftal'moplegiia-plius (multisistemnaia mitokhondrial'naia tsitopatiia) v detskom vozraste.

Two cases of ophthalmoplegia-plus are described for the first time in the national literature. The clinical picture of both patients aged 7 and 15 years exhibited a characteristic triad: external ophthalmoplegia, retinitis pigmentosa and heart conduction impairments. In one patient, this triad was supplemented by neurosensory deafness, torsion dystonia and the myopathic syndrome, and in the other one, by ichthyosis, cerebellar symptomatology, the myopathic syndrome and a marked elevation of protein in the cerebrospinal fluid. In both patients, the diagnosis was supported by electron microscopic studies of a muscular biopsy-specimen which disclosed pronounced changes in the number, structure, size and form of mitochondria as well as the presence of glycogen and lipid drops accumulating near mitochondria.