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H Drac

Publications and source records attributed to H Drac.

At least 37 records · Page 2Linked to original sources
PubMed1979

[Case of hereditary sensory neuropathy with atypical clinical course].

The authors report cases of hereditary sensory neuropathy of atypical clinical pattern in siblings. Besides evident sensory disturbances signs of peripheral motoneuronal damage and cerebellar signs were present. Electrophysiological and histological investigations in one of these cases confirmed that sensory disturbances were connected with damage to the peripheral sensory neuron.

Adult↗
PubMed1977

Infantile chronic peripheral neuropathy with giant axons. Report of a case.

An 8-year-old boy with a slowly progressive motor neuropathy is described. The first signs appeared at the age of 3 years. Histological examination of the sural nerve showed the presence of numerous segmental axonal swellings and features of demyelination as well as remyelination. These enlargements were filled with irregularly orientated 10 nm filaments. The case resembled the previously described cases of giant axonal neuropathy but differed from them in absence of kinky hair.

Axons↗
PubMedDate not supplied

[Electrophysiological abnormalities in acute and chronic inflammatory demyelinating polyneuropathies].

Electrophysiologic changes in G-B and CIDP polyneuropathy. Retrospective comparative study of the electrophysiologic changes in 7 cases of GBS and 12 cases of CIDP polyneuropathy were performed. In all cases nerve stimulation data fulfilled the diagnostic electrophysiologic criteria of demyelinated inflammatory polyneuropathy. Our material confirms that electrophysiological investigations are a very important diagnostic tool in inflammatory demyelinating polyneuropathy. However, different electrophysiologic features in individual cases and in the course of the disease cause that nerve stimulation data have no diagnostic value in differentiation between the GBS and CIDP cases.

Acute Disease↗
PubMedDate not supplied

[Hereditary neuropathy with liability to pressure palsies caused by 17p11.2 chromosome deletion].

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterised by recurrent mononeuropathies. Electrophysiological studies reveal slowed conduction velocity in peripheral nerves. The main histopathological findings are focal thickenings of myelin-tomaculae. In most cases HNPP is associated with a deletion within PMP-22 (peripheral myelin protein; PMP) gene on chromosome 17p11.2. The gene penetration is almost complete but the expression may be variable. DNA analysis is of practical importance in diagnosing HNPP especially in sporadic cases and also in individuals without clinical and electrophysiological signs of neuropathy. We present the first Polish family with HNPP, in which the genetic defect has been confirmed by DNA analysis.

Adult↗
PubMedDate not supplied

[Hereditary motor and sensory neuropathy. I. Principles of classification and clinical picture].

The clinical picture was analysed in two types of hereditary motor-sensory neuropathy isolated on the ground of electrophysiological criteria. Type I comprised 34 patients with the conduction velocity in median nerve below 38 m/sec. Type II 19 patients with the conduction velocity above 38 m/sec. The age of onset was similar in both types and cases with onset below the age of 5 years prevailed. The assessment of the clinical picture using a acoring system failed to show any significant differences between type I and type II. Cases of type I shows, however, a considerable variability of the clinical picture and the course of disease process. Cases of type II were more homogeneous.

Adolescent↗
PubMedDate not supplied

[Hereditary motor-sensory neuropathy. II. Electrophysiological studies].

Electrophysiological parameters (conduction velocity, distal latency, amplitude of evoked response) were analysed in two types of sensorimotor hereditary neuropathy isolated on the ground of the values of motor conduction velocity in the median nerve which was 38 m/sec. Using this criterion the studied material of 53 cases could be divided into two groups. Group I of 34 cases in which the mean conduction velocity in the median nerve was 16.2 m/sec, and group II of 19 cases had a mean conduction velocity in the median nerve of 50.7 m/sec. The evaluation of the degree of slowing down of conduction in both types showed similar values in individual cases and in families.

Evoked Potentials↗
PubMedDate not supplied

[Motor-sensory hereditary neuropathy. III. Histological changes].

The authors describe the results of histological examinations of the sural nerve in 40 cases of sensorimotor hereditary neuropathy. A comparison of the morphological findings with the values of conduction velocity showed that all cases with "primary demyelination" belonged to the I type of this neuropathy (with conduction velocity under 38 m/sec) while those with axonal changes (and conduction velocity over 38 m/sec) belonged to type II. In 2 cases the degree of demyelination and axonal changes was similar, but the electrophysiological criteria failed to correspond to those of the "intermediate" type. These observations confirmed the validity of the classification of Harding and Thomas, but give no basis for isolation of an "intermediate" group as suggested in the classification of Bradley et al. A progression of demyelination changes was observed with increasing intensity of the pathological process, and frequent coexistence of axonal changes in type I, and possibility of greater damage to the thin myelinated fibres in relation to thick fibres in type II.

Axons↗
PubMedDate not supplied

[Sensorimotor hereditary neuropathy. IV. Clinical, electrophysiologic and histologic correlations. Summary of studies].

On the basis of a material comprising 53 cases of sensorimotor hereditary neuropathy from 40 families the authors discuss the results of studies on the clinico-electrophysiological-histological correlations. The electrophysiological and histological studies demonstrated the validity of separation of this disease into two types according to the criteria given by Harding and Thomas. No significant differences were found in the clinical manifestations between type I and type II of the disease. In type I the clinical and histological findings were more varied than in type II. No basis was found for isolation of an intermediate type of peroneal muscular atrophy.

Arm↗
PubMedDate not supplied

[Giant-axon polyneuropathy (case report)].

In a girl aged 8 years with clinical manifestations of polyneuropathy histological examination of the sural nerve demonstrated segmental distension of axons. The characteristic appearance of her hair, signs of peripheral nervous system damage and morphological findings in the sural nerve made possible the diagnosis of giant-axon polyneuropathy.

Arm↗