[Refsum's disease. Epidemiologic, clinical and biological correlation. 6 cases]. / La maladie de Refsum. Corrélations épidémiologiques, cliniques et biologiques. Six cas.

Nine patients with symptoms and signs of Refsum's disease are reported. In 6 a systemic accumulation of phytanic acid was demonstrated, together with low phytanic acid oxidase activity in skin fibroblasts in 5 of them. In 3, no disorder of phytanic acid metabolism was demonstrated. In 3, the diagnosis was made during the pre-clinical period. The disease seems more frequent in Northern France, which agrees with the hypothesis of a genetic mutation which would have taken place in Scandinavia some centuries ago and was subsequently spread by the Vikings. The effects of a dietary treatment on serum phytanic acid levels and clinical disorders are reported. The general condition of the patients improved remarkably but only partially. The diet is unpalatable and in some patients the level of serum phytanic acid increased, due to the mobilization of body fat. Patients with very high levels of phytanic acid might be initially treated by plasmapheresis. For the same reason, the diet should supply enough calories to keep body weight unchanged, and body weight loss whatever its cause should be avoided.

[Cerebral form of Degos's disease]. / Maladie de Degos à forme cérébrale.

The writers report on a new anatomical and clinical observation of Degos' disease with neurological complications. A highly fluctuating meningoencephalitic syndrome took place in a young man 17 years old with a fatal outcome in 2 months. It was a general examination which revealed the lesions of atrophic papulosis typical of the disease. A histological examination confirmed the skin arteriolar, intestinal, and hemispheric lesions. It drew attention to the very abundant similar venular lesions, thus leading to a reconsideration of the physiopathology of this disorder, in which the oft demonstrated autoimmunity and arterial involvement are perhaps only symptoms of the disease.