Ellis van Creveld syndrome with unusual association of essential infantile esotropia

Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, nail dysplasia and in 50-60% cases of congenital cardiac defects. It is an autosomal recessive disorder with mutations of the EVC1 and EVC2 genes located on chromosome 4p16. Patients with this syndrome usually have a high mortality in early life due to cardiorespiratory problems. We present the case of a six-month-old female infant with Elis-van Creveld syndrome - essential infantile esotropia, which has been infrequently documented in the literature

Panuveitis as a manifestation of ocular syphilis leading to HIV diagnosis

Syphilis is a rare cause of panuveitis. We present the case of a 33-year-old man who presented with diminution of vision of three months duration in his left eye [OS], without any other systemic illness. Ophthalmic examination showed features of pauveitis with dense vitreous exudates, disc pallor and sheathing of vessels on fundoscopy. A diagnosis of probable endogenous endophthalmitis was made and vitreous tap performed. Vitreous biopsy showed no growth of fungus or bacteria. Rapid plasma reagin [RPR] and Treponema pallidum hemagglutination [TPHA] test were positive. Enzyme-Linked lmmuno Sorbent Assay [ELISA] and Western Blot test were then performed, which revealed concurrent HTV infection. The patient improved dramatically with intravenous penicillin therapy HIV positive patients may present with panuveitis secondary to ocular syphilis, as the only presenting feature in HIV positive patient in absence of any other systemic features