Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.

Glutaric acidemia type I (GA-I) is a treatable autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. Presentation and progression of disease are variable ranging from asymptomatic carrier state to catastrophic encephalopathy. GA-I usually presents before age 18 months, usually triggered by childhood infection, with mild or severe acute encephalopathy, striatal degeneration, and movement disorder, most often acute dystonia. At a presymptomatic stage diagnosis is suggested clinically by macrocephaly, radiologically by widened Sylvian fissures and biochemically by the presence of excess 3-hydroxyglutaric acid and glutaric acid in urine. Treatment consists of lysine-restricted diet and carnitine supplementation, specific diet restrictions, as well as symptomatic and anticatabolic treatment of intercurrent illness. Presymptomatic diagnosis and treatment are essential to prognosis. We report the case of 16-year-old macrocephalic female with late-onset GA-I and unusual paucisymptomatic presentation with fainting after exercise and widespread white matter signal changes at MRI. She was compound heterozygote for a novel mutation (IVS10-2A>G) affecting splicing at GCDH and a common missense mutation (c. 1240C>T; p.Arg402Trp, R402W). Interestingly, the site of the novel mutation is the nucleotide position of a common mutation found almost exclusively in patients of Chinese/Taiwanese origin (IVS10-2A>C).

Evolution of full-thickness macular hole formation in a case of myopic foveoschisis.

PURPOSE: To describe the evolution of a full-thickness macular hole in myopic foveoschisis. METHODS: A 62-year-old woman with myopic foveoschisis developed a full-thickness maculare hole after 36 months. The evolution of the macular hole was observed by optical coherence tomography (Stratus OCT3). RESULTS: During the first stages of macular hole formation, a small triangular foveolar retinal detachment, with corresponding elevation of inner segment/outer segment junction line, was observed. The retinal detachment later enlarged. A concrete intraretinal columnar structure, extending between the inner fovea's layer and the roof of foveal detachment, was observed. CONCLUSION: The so-called columnar structure, detected in our case, possibly transmitted the vitreomacular traction contributing to the opening of the RD roof, the outer lamellar macular hole formation, and finally in the creation of a full-thickness macular hole.

Disseminated hydatid disease in a child: albendazole treatment of orbital cyst.

PURPOSE: Orbital hydatid cyst is rare and represents a small percentage of all echinococcal systemic locations. It is usually a primary echinococcosis. A new case of orbital hydatid cyst with asymptomatic coexistent lung and liver cysts is described in a child. METHODS AND RESULTS: The patient underwent surgical excision of the lung and liver cysts and successful application of albendazole treatment for orbital echinococcal cyst without evidence of recurrence after a 4-year follow-up. CONCLUSIONS: Hydatid cyst should be included in the differential diagnosis of unilateral exophthalmos in patients from countries where echinococcosis is endemic.

Leukotriene antagonists attenuate late phase nitric oxide production during the hypersensitivity response in the conjunctiva.

OBJECTIVE: To investigate the role of cysteinyl leukotrienic (cysLT) antagonists on conjunctival nitric oxide (NO) release in experimental allergic conjunctivitis. METHODS: Zafirlukast, disodium cromoglycate or levocabastine were instilled into the C48/80-challenged eyes of male Wistar rats. The conjunctival histamine content and nitrite levels in the lavage fluid were quantified 45 min and 6 h post-challenge, respectively. Instillation of phosphate buffer saline reflected control treatment. Statistical analyses were performed by ANOVA. RESULTS: Topical challenge with C48/80 significantly altered the histamine and nitrite levels to 44.6 +/- 2.8% and 233 +/- 19% of the control (P < 0.01), respectively. Instillation of zafirlukast, disodium cromoglycate or levocabastine reversed the effect of C48/80 on nitrite release, its levels being 150 +/- 27%, 54 +/- 14% and 121 +/- 20% of the control (P > 0.05), respectively. Zafirlukast had no effect on the histamine content. CONCLUSIONS: By inhibiting the late-phase NO component of the conjunctival hypersensitivity response, cysLT antagonists might contribute to the management of ocular inflammatory responses.

Cataract surgery in children with uveitis.

PURPOSE: To report the technique and postoperative results of cataract surgery in children with uveitis. METHOD: Between 1988 and 1998, nine children (age range: 2.5-11 years) who developed secondary uveitic cataract and underwent cataract extraction were studied retrospectively. Seven children had juvenile rheumatoid arthritis and two had chronic anterior uveitis of unknown etiology. The surgical technique was lensectomy and wide anterior vitrectomy with limbal approach, lysis of anterior synechiae and in some cases, peripheral iridectomy. Postoperative aphakia was corrected with soft contact lenses in all patients. Follow-up ranged from 6 months to 6 years. RESULTS: Postoperatively, visual acuity in all patients improved and final visual acuity ranged from 20/70 to 20/25. Significant intraoperative complications did not occcur in any patient. One boy with juvenile rheumatoid arthritis developed cystoid macular edema 1 month postoperatively, which was successfully managed. He also developed hypertonia 1 year later, which was also successfully managed. Seven of the nine children had fewer and milder relapses of uveitis after surgery. CONCLUSION: Cataract surgery, using the lensectomy-vitrectomy technique in children with uveitis, is a safe technique with a relatively small percentage of postoperative complications and good functional results.

Iatromathematica (medical astrology) in late antiquity and the Byzantine period.

Byzantium inherited the rich astrological tradition of Late Antiquity, especially that of Alexandria, where even in the 6th century A.D., astrology was taught in philosophical schools. The great number of Byzantine astrological MSS, which preserve works of famous authors and many anonymous treatises, shows the survival and continuity of astrology in Byzantium. Through medical astrology physicians can better understand the temperament of an individual man and find out about his bodily constitution and psychic faculties, his inclination to chronic and acute diseases, the possibilities of curable or incurable cases, and finally the periods of major danger for his health. They can conjecture about the evolution of a disease, choose a favorable time for an operation, or initiate a cure.

Stephanus of Alexandria; on the structure and date of his alchemical work.

On the authorship of Stephanus' of Alexandria On the great and sacred art of making gold many questions have arisen, and many scholars have in my estimation misunderstood and undervaluated it. As a commentary on selected passages of earlier alchemical texts it in fact offered an opportunity to its author to demonstrate wide rhetorical prowess, extensive learning, and significant breadth of philosophical understanding. In this article we present additional arguments in favour of Stephanus' authorship of the work; demonstrate that what was its concluding portion has been lost; indicate how two of the original lectures it contained have each been divided into two other lectures; and attempt to pin-point its exact date of composition on the basis of astronomical information it contains.