ABSTRACT
The cases of two sisters with abetalipoproteinemia are reported. Both presented the complete clinical and biological features of the disease: ataxia, retinitis pigmentosa, lack of apolipoprotein B, chylomicrons, LDL and VLDL, reduced titers of serum cholesterol and triglycerides, acanthocytosis, very low levels of serum vitamin A and E. Abetalipoproteinemia is a rare autosomal inherited disease. It is usually revealed during early childhood by steatorrhea and failure to thrive; ataxia and retinitis pigmentosa appear later. The originality of these two cases stems from: 1) their late and fortuitous diagnosis: the first sister was investigated at the age of 42 after the discovery of a vitamin K induced coagulation disorder. The other sister was 39 when she was routinely examined as a family member; 2) the presence of constipation without any other suggestive digestive complaint. However, white discoloration of the duodenal mucosa seen at endoscopy and lipid droplets within the intestinal absorptive cells at biopsy were characteristic. Barium studies showed diffuse involvement of the small bowel which was displaced by an enlarged sigmoid. Treatment consists of administration of vitamin A and vitamin E which prevent or delay ocular and neurologic symptoms. Vitamin K is associated whenever necessary.
Subject(s)
Abetalipoproteinemia/genetics , Abetalipoproteinemia/diagnosis , Abetalipoproteinemia/therapy , Adult , Dietary Fats/administration & dosage , Female , Humans , Vitamins/therapeutic useSubject(s)
Fluorocarbons/administration & dosage , Retinal Detachment/therapy , Adolescent , Adult , Aged , Child , Child, Preschool , Eye Diseases/surgery , Eye Diseases/therapy , Female , Fluorocarbons/therapeutic use , Humans , Injections , Male , Middle Aged , VitrectomySubject(s)
Cyclosporins/therapeutic use , Uveitis, Posterior/drug therapy , Adult , Female , Follow-Up Studies , Humans , Male , Middle AgedSubject(s)
Corneal Transplantation , Keratoconus/surgery , Adolescent , Adult , Female , Follow-Up Studies , Graft Rejection , Humans , Male , Middle Aged , Postoperative Complications , Retrospective Studies , Time FactorsSubject(s)
Behcet Syndrome/complications , Cyclosporins/therapeutic use , Uveitis/drug therapy , Adult , Humans , MaleSubject(s)
Eye Neoplasms/pathology , Retinoblastoma/pathology , Child , Child, Preschool , Humans , Prognosis , Retrospective StudiesABSTRACT
The authors are reporting an unusual case of scleral involvement in a case of Crohn's disease. A distinctive subepithelial keratopathy developed which though uncommon, should be regarded as a distinct clinical sign of Crohn's disease. The exact situation of ocular lesions among extra-intestinal complications of Crohn's disease, their incidence and aspects are discussed. The possible immunological basis of these manifestations, still unconvincing, is exposed and related to local deposition of antigen-antibody complexes.
Subject(s)
Corneal Diseases/etiology , Crohn Disease/complications , Sclera , Child , Corneal Diseases/drug therapy , Crohn Disease/drug therapy , Crohn Disease/immunology , Female , Humans , Inflammation/drug therapy , Inflammation/etiology , Inflammation/immunology , RecurrenceSubject(s)
Adenoma/pathology , Iris Diseases/pathology , Pigment Epithelium of Eye/pathology , Uveal Neoplasms/pathology , Adult , Humans , MaleABSTRACT
The effectiveness of thrombolytic agents used in local infusion has been demonstrated in the treatment of acute myocardial infarctions by several randomized trials. Thrombolytic therapy seems also to improve the prognosis of certain acute life-threatening brain stem strokes. Two cases of central retinal artery occlusion were treated with intracarotid urokinase injections. Visual acuity was improved in both cases in less than 24 hours, repermeation of the occluded vessels was observed 48 hours after the beginning of treatment. The limits of this kind of therapy are emphasized: there must be no contra-indication to the fibrinolytic agents, a delay shorter than 6 hours after the beginning of symptoms, a lack of arguments in favour of an embolism, and integrity of the carotid bifurcation. Surveillance in an intensive cares unit during the first days is required.
