The First Reported Case of Ocular Syphilis in an Iranian Patient

Purpose: To report the first case of ocular syphilis in an Iranian patient and discuss its diagnostic challenges. Case Report: A man in his mid-70s presented with progressive bilateral visual and auditory decline. He had previously lived in a Southeast Asian country for 10 years. Prior steroid therapies entailed no inflammation subsidence. His visual acuity at presentation was light perception OU. Funduscopic findings included severe vitritis, severe optic atrophy, diffuse retinal vascular occlusion, and diffuse retinal atrophy OU. Angiography demonstrated diffuse areas of retinal and choriocapillaris atrophy with no active choroiditis. Scaly cutaneous lesions were noted on his palms and soles – atypical findings of secondary syphilis. Serum analysis revealed an underlying syphilis infection. The cerebrospinal fluid sample was reactive to anti-syphilis antibodies, securing a neurosyphilis diagnosis. Two weeks of antibiotic therapy resulted in cutaneous lesions resolution and relative visual improvement despite extensive baseline retinal atrophic damage. Conclusion: Ocular syphilis can mimic numerous ocular inflammatory scenarios. In cases of ocular inflammation that is unresponsive to steroids, reconsidering alternative diagnoses, especially infections with the highest clinical relevance, is necessary. We stress the importance of acquiring patients’ sexual history, regardless of cultural barriers and the rarity of the entity in some regions

Clinical findings in a large family with a parkin ex3delta40 mutation

Objective To describe a large consanguineous family in which inheritance of a 438– to 477–base pair deletion in exon 3 (Ex3{Delta}40) in the parkin gene resulted in parkinsonism (age range at onset, 24-32 years). Design Fifty-two family members underwent genetic analysis. Main Outcome Measure Two clinical examiners blinded to genetic status evaluated 21 family members, including all mutation carriers (4 homozygous and 12 heterozygous individuals; 5 family members did not have the mutation). Results In this family, the parkin Ex3{Delta}40 mutation is recessive; only homozygotes manifest symptoms of early-onset levodopa-responsive parkinsonism, including resting tremor, dystonia, and slow progression, with the caveat that presymptomatic signs of dopaminergic loss in heterozygotes must be excluded by fluorodopa F 18 with positron emission tomography. This contrasts with the autosomal dominant pattern of inheritance of parkinsonism described in families with the same mutation. Conclusion In families with a dominant inheritance, an additional genetic or environmental cause must coexist with the Ex3{Delta}40 mutation

Analysis of the PINK1 Gene in a Large Cohort of Cases With Parkinson Disease

Background Mutations in the PTEN-induced kinase (PINK1) gene located within the PARK6 locus on chromosome 1p35-p36 have recently been identified in patients with recessive early-onset Parkinson disease. Objective To assess the prevalence of PINK1 mutations within a series of early- and late-onset Parkinson disease patients living in North America. Design All coding exons of the PINK1 gene were sequenced in a series of 289 Parkinson disease patients and 80 neurologically normal control subjects; the mutation frequencies were evaluated in additional controls (100 white and 50 Filipino subjects). Results We identified 27 variants, including the first reported compound heterozygous mutation (Glu240Lys and Leu489Pro) and a homozygous Leu347Pro mutation in 2 unrelated young-onset Parkinson disease patients. Conclusion Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease