Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation.

Hereditary neuropathy with liability to pressure palsies (HNPP) is a peripheral nerve disorder characterized by autosomal dominant inheritance, recurrent pressure palsies, reduced motor and sensory conduction velocities and sausage-like swellings (tomacula) of myelin sheaths in nerve biopsy. Two young adult patients are reported as index cases of two families in which HNPP was diagnosed. The first patient presented with recurrent pressure palsies, whereas the second suffered from fasciculations and myokymias in his right hand, with difficulty in writing, and upper and lower limb paraesthesias of 3 years' duration. Electrodiagnostic studies revealed slowing of conduction primarily in common sites of compression in both patients. Sural nerve biopsy revealed the characteristic tomaculous swellings in both patients. DNA analysis showed that both patients have a deletion in chromosome 17p11.2 which is found in the majority of HNPP cases. In light of the common molecular defect, the different clinical symptomatology of the two patients is discussed.

Polymorphonuclear leukocyte functions and multiple sclerosis.

We tested peripheral blood from 60 patients with definite multiple sclerosis (MS) and 60 healthy controls for polymorphonuclear leukocyte (PMNL) functions and found significant disorders in adherence (9.07% +/- 8.18% for patients versus 28.97% +/- 5.76% for controls), chemotaxis (18.32 +/- 3.1 for patients versus 30.49 +/- 4.52 for controls), phagocytosis (73.6 +/- 25.25 for patients versus 111.2 +/- 25.7 for controls), and bactericidal action (10.35% +/- 5% for patients versus 25.09% +/- 4.82% for controls). All differences were significant (p < 0.001). We confirmed the results by retesting 3 to 8 months later. The depressed PMNL functions in MS patients may explain their increased susceptibility to infections of the respiratory, digestive, and urinary tracts.

Gout and neurological abnormalities associated with cardiomyopathy in a young man.

A 21 year old man with a family history of gout and neurological deficits, developed severe idiopathic congestive cardiomyopathy after a long history of typical gouty attacks and neurological abnormalities. Clinical and laboratory evaluations showed borderline mental retardation, ataxia, sensorineural deafness, marked hyperuricaemia, and excessive uric acid excretion in the presence of impaired renal function. None of the known causes of cardiomyopathy was found. Even though red cell hypoxanthine guanine phosphoribosyltransferase enzyme activity was normal, this case probably represents an inborn error of purine metabolism. The association of cardiomyopathy with gout is very unusual. Previously it has been only once described in a single case.

[Subclinical vestibular abnormalities in Parkinson's disease (author's transl)]. / Troubles vestibulaires infracliniques dans la maladie de Parkinson.

The material of this study comprised 70 patients who suffered from Parkinson's disease and 77 healthy individuals, who were examined by the same methods, for an accurate comparative evaluation of the results. Following the clinical examination, and E.N. Graphic examination was done an subsequently the pendular rotation test was performed. In order to obtain a better statistical evaluation, the material was studied successively according to the age of the patients, the existence of arteriosclerotic lesions in the fundi, the type and duration of the disease, the unilateral of bilateral manifestations and the use of drugs. While the E.N. Graphic examination revealed spontaneous nystagmus in 20 p. 100 of the cases, the pendular rotation test revealed clear cut abnormalities mainly of the central type in 75 p. 100 of the cases.

[Electronystagmographic studies in patients with multiple sclerosis (author's transl)]. / Etude électronystagmographique de la sclérose en plaques.

An E.N.G. examination utilizing the pendular rotation test was carried out in 200 patients with multiple sclerosis who had been completely studied from the neurological point of view. The E.N.G. study did not only reveal a nystagmus in cases in which it was not detected by clinical examination but particularly it allowed the detailed analysis of different types of nystagmus the clinical examination of which had not permitted to reveal the components. The spontaneous nystagmus was proved to be particularly multiform in this disease. Quite often a combination of two or three types of nystagmus was recorded on the same E.N.G. The most frequent type was the dissociated nystagmus of abduction and secondly the vertical type. The pendular rotation test appeared to be very useful in revealing abnormalities mainly of the central type, in cases in which spontaneous nystagmus was not recorded.

[The contribution of the pendular rotation test in the diagnosis of the spinal form of multiple sclerosis (author's transl)]. / Apport de l'épreuve vestibulaire rotatoire pendulaire au diagnostic de la forme spinale de la sclérose en plaques.

Among 200 cases of multiple sclerosis which were studied, 41 had not presented any supraspinal manifestations. The simple E.N.G. examination discovered a spontaneous nystagmus in only three cases. On the contrary the pendular rotation test revealed disorders in most of the cases, chiefly abnormalities of central type. A comparative study of the age of patients, age of onset of the disease, duration and course suggested that none of these factors play a significant role in the frequency and the nature of the vestibular disorder. The high percentage of the cases in which subclinical abnormalities were discovered by the pendular rotation test shows that this method has a particular sensitivity regarding the diagnosis of multiple sclerosis, in cases in which supraspinal symptoms are absent.

Melkersson-Rosenthal's syndrome in four generations.

Melkersson-Rosenthal's syndrome is a rare condition, the hereditary nature of which is still in dispute. A family with seven affected members in four generations is described, which provides further evidence for the genetic basis of the syndrome.