[The Tel Hashomer camptodactyly syndrome]. / Sindrom kamptodaktilii Tel' Khashomera.

Tel Hashomer camptodactyly syndrome in 2 siblings was described for the first time in Russian literature. Together with camptodactyly flexion folds between phalanges were absent in patients and characteristic face alterations were presented such as asymmetry, hypertelorism, antimongolian ophthalmic eyes cut, high ridge of the nose. There were also observed diffuse skeletal musculature hypoplasia together with humeroradial muscle aplasia as well as two-sides talipes. Inheritance type of syndrome in this family was estimated as autosomal-recessive.

[Familial paroxysmal ataxia]. / Semeinaia paroksizmal'naia ataksiia.

The paper provides clinical and paraclinical findings on 3 patients from one family (two brothers and father) suffering from familial paroxysmal ataxia. The authors observed psychosensory disturbances not typical, according to the literature for attacks of ataxia, dysarthria and nystagmus. The evidence obtained on cerebral and spinal evoked potentials made it possible to diagnose multilevel impairment of nervous impulse conduction in the somatosensory system which may be due to metabolic disturbances underlying the disease.

[Familial neuralgic amyotrophy]. / Semeinaia nevralgicheskaia amiotrofiia.

The authors provide the reported data concerned with differential diagnosis of hereditary and sporadic neuralgic amyotrophy. Describe own observations where members of the same family (mother and son) suffered from neuralgic amyotrophy. Attention is concentrated on the fact that in both cases, the disease started at the preschool age and was of recurrent nature. In the mother, an attack of neuralgic amyotrophy occurred in the postnatal period, in the son, successive exacerbation of the disease occurred in the form of 4 consecutive attacks of neuralgic amyotrophy which provoked deep paresis of the muscles of the shoulder girdle and both hands. After 1.5 years the muscles indicated practically regained their power.

[A case of familial congenital analgesia with autosome-dominant type of inheritance]. / Semeinyi sluchai vrozhdennoi anal'gezii s autosomno-dominantnym tipom nasledovaniia.

Inborn analgesia (IA) is described in 3 members of a family: a 14 month-old girl, hel father and grandfather on the paternal line. Generalized indifference to pain and visceral analgesia with other senses intact was noted in all patients since birth. Profound reflexes, intellectual development, karyotype, motor and sensory nervous excitation propagation velocities, somatosensory evoked potentials were all normal. Notedly, the IA inheritance was found to be autosome-dominant in this family.

[Kinesigenic paroxysmal dyskinesia: an idiopathic variant and a case caused by hypoparathyroidism]. / Kinezigennaia paroksizmal'naia diskineziia: idiopaticheskii variant i sluchai, obuslovlennyi gipoparatireoidizmom.

The authors present a brief review of modern literature on paroxysmal dyskinesia. Two cases of kinesigenic paroxysmal dyskinesia (KPD) are described. In the first case (a 22-year-old man) attacks first developed at the age of 14 years. The disease was sporadic in nature and was attended by tapeto-retinal abiotrophy. Attacks were fully eliminated by the treatment with diphenin (phenytoin) or finlepsin (carbamazepin). The second patient, a 14-year-old boy, presented moderate intellectual disorders, parkinsonism and KPD attacks in the absence of a tetanic symptom complex. Some of the KPD attacks in this case, as in the first patient, developed during running, with some of the paroxysms being attended by backward running. Paraclinical examinations made it possible to diagnose pseudohypoparathyroidism. Therapy with dihydrotachysterol and calcium preparations brought about a dramatic clinical improvement, in particular a complete cessation of KPD attacks.

[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.

[Clinico-electrophysiologic analysis of a case of spike-wave stupor (absence state)]. / Kliniko-élektrofiziologicheskii analiz sluchaia pik-volnogo stupora (statusa absansov)

The authors describe the clinical picture of a case with a peak-wave stupor in a 16 year-old patient where the main clinical expression of this disorder was behavioural sleepiness. Polygraphical studies during the attacks detected an expressed permanent paroxysmal activity in the form of bilateral synchronous complexes of spike-waves. In a behavioural and EEG sleepiness there was a smaller frequency of the paroxysmal activity and changes of its form with a drop in the expressiveness of the peak components. Administration of seduxen solution also partially blockaded the paroxysmal activity. The authors discuss some differential diagnostical signs of this condition and some mechanisms in the formation of paroxysmal activity with dependence in its development of different phases of the daily cycle of wakefullness and sleep.