Unusual Finding in Gillespie Syndrome.
Journal Title: International Journal of Medical Science and Innovative Research (IJMSIR) - Year 2017, Vol 2, Issue 6
Abstract
Aniridia is a rare condition whose presence should alert clinicians to the possibility of other abnormalities. We report the case of a 4 months old girl, the clinical examination showed a bilateral partial aniridia with scalloped pupil border and iris strands extending into the anterior lens surface, and diffuse retinal hypo pigmentation in the funduscopic examination. Thorough investigation showed an interatrial communication and cholelithiasis without recognizable predisposing factors or disease. The genetic study showed a normal karyo type, without mutation in PAX6 gene. This report is relevant not only for the documentation of one more case of Gillespie syndrome, but also because of the description of a previously unreported association with cholelithiasis. As there are no other systemic alterations that could justify the presence of cholelithiasis, it could represent either an incidental association or a true finding not observed before.
Authors and Affiliations
H. Ahammou
Keywords
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