Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.

A large Caucasian family is presented, in which a juvenile-onset form of open-angle glaucoma is transmitted in an autosomal dominant fashion. Sixteen affected family members were identified from 31 at-risk individuals descended from the affected founder. Affected patients developed high intraocular pressures (sometimes > 40 mm Hg) within the first 2 decades of life. Linkage analysis between the disease phenotype and 12 microsatellite repeat markers located on chromosome 1q gave a maximum lod score of 8.38 at a recombination fraction of zero for marker D1S210. Analysis of recombinant haplotypes suggests a total inclusion region of about 14 cM between markers D1S194 and D1S218 at 1q21-q31. This represents the second juvenile-glaucoma family, in which the disease has been mapped to the long arm of chromosome 1.

[A case of "spontaneous" necrosis of the tongue (author's transl)]. / A propos d'une nécrose "spontanée" de la langue.

After several days of treatment with a combination of triacetyloleandomycin and dihydroergotamine, an 83-year-old female patient developed an ischaemic syndrome of the face, above all affecting the tongue, terminating in the elimination of a zone of necrotic tissue at the tip of the tongue.

[Gastric and pleural localization of Waldenström's disease]. / Localisations gastriques et pleurales de la maladie de Waldenström

The authors report a case of Waldenstrom's disease, the first sign of which, remaining for a long time the only sign, was a pseudo-carcinomatous infiltration of the stomach. Later, the patient developed a pleural localisation. These two lesions, gastric and pleural, are known but rare. The authors recall the main signs. They emphasize the long duration of the disease when treated by chlorambucil. A pathological IgM was found, not only in the serum of this patient, but also in the jejunal fluid aspirated during small intestinal biopsy.