Miller Fisher syndrome associated with influenza A infection.

A 36-year-old, previously healthy man presented with Miller Fisher syndrome (MFS) five days after he was diagnosed with an influenza A infection by a rapid antigen test. He had not received any recent vaccinations. He had no loss of consciousness. Bilateral ophthalmoplegia, blepharoptosis, areflexia, and ataxic gait were noted. One week after treatment with intravenous immunoglobulin, his ophthalmoplegia, blepharoptosis, and ataxic gait had gradually improved, and his deep tendon reflexes returned. Anti-GQ1b IgG antibodies were detected in his serum. There has been no previous report of postinfectious MFS following confirmed an influenza A infection in an adult.

Abducens nerve palsy and postganglionic Horner syndrome with or without severe headache.

OBJECTIVE: To report the clinical features of 9 patients with both abducens nerve palsy and postganglionic Horner syndrome. PATIENTS AND METHODS: Nine patients with this symptom combination were examined by our Neuro-ophthalmology Clinic in Nihon University Itabashi Hospital between 1978 and 2004. Patient ages ranged from 28 to 63 years (average 47.2+/-8.7 years). Six patients were males and 3 were females. Primary diseases, accompanying symptoms and prognoses were surveyed. RESULTS: In primary diseases, neoplasm in the cavernous sinus was observed in 2 patients, sphenoidal sinus cyst in 2, intra-cavernous carotid aneurysm in 2, epipharynx carcinoma in 1, chordoma in the base of the skull in 1, and meningioma in the middle cranial fossa in 1. Five patients with extra-cavernous sinus lesions; sphenoidal sinus cyst, epipharynx carcinoma, chordoma and meningioma, complained of severe headache. However, in patients without severe headache, intra-cavernous sinus lesions such as carotid aneurysm and metastatic carcinoma were detected. After therapy, abducens nerve palsy improved in 5 patients, however, Horner syndrome persisted in all patients. CONCLUSION: We emphasize that this symptom combination is an important sign of lesions in the posterior portion of the cavernous sinus or in its vicinity. Moreover, the presence or absence of severe headache depends on whether the lesion is in the intra-cavernous or extra-cavernous sinus.

Metastatic pituitary tumor from renal cell carcinoma treated by fractionated stereotactic radiotherapy--case report.

A 63-year-old man presented with rapidly progressive visual field deficit and hypopituitarism including diabetes insipidus, 8 years after treatment for a renal cell carcinoma. Neuroimaging studies revealed a dumbbell-shaped pituitary mass that had destroyed the sellar floor and abutted against the optic apparatus. Fractionated stereotactic radiotherapy (SRT), employing computer-image integration techniques and a frame that could be relocated to facilitate a fractionated dosing scheme, was carried out under a plan for reducing the treatment risk to the optic apparatus. Three months later, the patient exhibited marked improvement in the visual field deficit and visual acuity concomitant with a reduction in tumor volume. Magnetic resonance imaging of the sellar region confirmed striking shrinkage of the metastasis. His neurological status remained stable at 12 months after the SRT with no complications. Fractionated SRT appears to be effective for preserving or improving the residual vision in patients with visual loss secondary to metastatic tumor of the pituitary gland, and may result in a longer and better quality of life.

Fine structure and morphogenesis of asteroid hyalosis.

The fine structure and pathogenesis of asteroid hyalosis (AH) were investigated in this study. Samples were taken at vitreous surgery and trapped on membrane filters. Particles in the samples were observed with light and electron microscopes and processed by the focused ion-beam method. Chemical analysis was performed with an energy-dispersive X-ray microanalyzer. In vitro, reconstructive studies of hydroxylapatite were performed in simulated body fluid (SBF). AH is about 180 microm in diameter, spheric, and covered with a transparent vitreous matrix; its naked surface resembles reconstructed particles of hydroxylapatite (HOA). The asteroid bodies (AB) appeared as snowballs under the scanning electron microscope; the surface of the ABs was covered with clotted matrix of vitreous substances, and the structure under the covered substances showed a pumice stonelike structure. Artificial HOA produced by the biomimetic method built a surface pattern similar to the AH particles on a collagen-coated styrene plate. We concluded that AH was produced not only by changing of ionic tension in the vitreous fluid but also by changes of vitreous matrix in the aging process and in diseases. The AH is composed of HOA, which is produced by the body, and its chemical constitution is phosphate and calcium. These structural characters resemble stones in the living body (lithiasis); thus, we concluded that AH is a condition of lithiasis in the body.

A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I.

PURPOSE: We examined transforming growth factor beta-induced (TGFBI) gene mutations in a family with lattice corneal dystrophy type I. METHODS: The proband was one of the offspring of a consanguineous marriage; 4 affected and 3 unaffected individuals of the family were investigated. Genomic DNA of each case was extracted and used for polymerase chain reaction (PCR). The exon 4, 11, and 12 of the TGFBI gene were directly sequenced. The mutations were confirmed by PCR restriction fragment length polymorphism analysis. RESULTS: There was no significant difference in phenotype between the proband and the other 2 patients, except for progression of the corneal opacity with age. R124C mutation was detected in all affected individuals. In addition, G470X, a novel nonsense mutation, was detected in the proband, resulting in the proband being a compound heterozygote with the TGFBI gene. Her unaffected daughter was found to be heterozygous for G470X. CONCLUSION: It is most likely that the novel nonsense mutation is not pathogenic, and that the mutant keratoepithelin protein with R124C is responsible for the phenotype.