Behr's syndrome and 3-methylglutaconic aciduria.

We examined three patients from two families of Jewish-Iraqi origin who had progressive reduction of visual acuity and childhood onset of bilateral optic nerve atrophy without additional retinal abnormalities. They had neurologic symptoms compatible with Behr's syndrome. Neurologic signs included increased tendon reflexes, a positive Babinski sign, progressive spastic paraplegia, dysarthria, head nodding, and horizontal nystagmus. Neurologic involvement varied between affected siblings. The patients excreted excessive amounts of 3-methylglutaconic acid and 3-methylglutaric acid in their urine. We compared the characteristic ophthalmic features and the spectrum of neurologic signs encountered in this recently delineated autosomal recessive clinical entity with those of previously described entities associated with 3-methylglutaconic aciduria. Patients with early-onset optic atrophy should be examined for neurologic signs and screened for organic aciduria. A detailed ophthalmic examination is important in patients with neurologic abnormalities compatible with Behr's syndrome.

Uveal lymphoid infiltrates: immunohistochemical evidence for a lymphoid neoplasia.

A 67-year-old man presented with a diffuse choroidal and ciliary body infiltrate, suggesting clinically and ultrasonographically a diffuse uveal melanoma. After enucleation both morphological and immunohistochemical data were highly suggestive of a diffuse, low-grade B cell lymphoma or lymphoplasmacytic immunocytoma. The difficulties of clinical and histopathological differential diagnosis of uveal lymphoid infiltrates are emphasised. In view of the excellent life prognosis of these tumours, treatment of the patient should be directed towards the preservation of ocular function.

Prolonged systemic administration of cyclosporin A affects gingival epithelium.

Gingival biopsies were obtained from 12 patients suffering from Behcet's disease who were treated with Cyclosporin A (CsA) for up to 20 months. Preparations were made for examination with both light and scanning electron microscopy (SEM). Along with known changes in the gingival epithelial structure observed following CsA treatment, we also found unusual clusters of needle-like crystallites embedded in the epithelium, mostly at the base of the acanthotic projections. Toluidin blue staining revealed increased numbers of both intact and degranulated mast cells in the attached epithelium. It is concluded that CsA affects the gingival epithelium and that the clinically observed enlargement of gingival tissue following prolonged treatment with CsA is due primarily to CsA-epithelial interaction.

[Helicobacter pylori in central serous chorioretinopathy and diffuse retinal epitheliopathy. Results of the first prospective pilot study]. / Rôle de l'Helicobacter pylori dans la choriorétinopathie séreuse centrale et l'épithéliopathie rétinienne diffuse. Résultats de la première étude prospective pilote.

PURPOSE: Helicobacter pylori has been implicated in focal occlusive arterial diseases in young people. Central serous chorioretinopathy (CSC) and diffuse retinal epitheliopathy (DRE) being suspected vascular occlusive diseases of choriocapillaris, the purpose of this study was to determine the prevalence of H. pylori infection in patients with long-lasting (>6 months) CSC and/or DRE. METHODS: Sixteen consecutive patients living in southeastern France were included in this prospective pilot study. H. pylori infection was assessed by the (13)C-urea breath test, serology, as well as histology of gastric biopsy specimens in some cases. RESULTS: Evidence for H. pylori infection was detected in nine out of the 16 patients with active long-lasting CSC/DRE (56.3%). H. pylori-infected patients more frequently presented gastric pain (four of nine H. pylori-positive patients: 44%) than H. pylori-negative patients (one out of seven: 14%). Men were more frequently H. pylori-positive (seven men out of ten: 70%) than women (two women out of a total of six: 33%). DISCUSSION: When the prevalence of H. pylori infection (56.3%) was compared to the prevalence in a historical control population from southeastern France (27.5%), it was found to be significantly higher (P<0.05). CONCLUSION: These results may indicate a possible association between H. pylori infection and CSC/DRE manifestations. This new etiopathogenic hypothesis deserves to be confirmed in a national or international multicenter study because it could lead to a new therapeutic approach in CSC/DRE, i.e., Helicobacter pylori eradication.

A muscle disorder as presenting symptom in a child with mucolipidosis IV.

Psychomotor retardation and hypotonia were found in a 1 1/2 year old girl with bilateral corneal opacities. Very high levels of enzymes of muscular origin together with abnormal electromyograms and muscle biopsy lead at the time to the diagnosis of an unspecified muscle disorder. Twelve years later mucolipidosis IV (ML IV) was diagnosed in this child. She was then very retarded, ocular and neurologic deterioration were evident and enzyme levels were still very high. Only few patients affected with ML IV have been reported and all but one were very young; therefore it is important to add observations on the progression of the disease and on unusual clinical features like muscle involvement.