Abstract: We report a case of congenital mydriasis in a neonate with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Pilocarpine testing and gastrointestinal pathology in our patient suggest that the mydriasis is due to an underlying smooth muscle myopathy of the iris sphincter muscle. These findings may have important implications regarding the pathogenesis of MMIHS.
Department of Ophthalmology and Visual Sciences (CM), Washington University, St Louis, Missouri; Departments of Ophthalmology and Neurology (RDW), The Medical College of Wisconsin, Milwaukee, Wisconsin; The Neuro-Ophthalmology Service (GTL); Department of Pathology (KRC); Center for Fetal Diagnosis and Treatment (MPJ); Division of General, Thoracic and Fetal Surgery in the Department of Surgery (PM), The Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Address correspondence to Grant T. Liu, MD, Division of Neuro-ophthalmology, Department of Neurology, University of Pennsylvania School of Medicine, 3400 Spruce Street, Philadelphia, PA 19104; E-mail: firstname.lastname@example.org
The authors report no conflicts of interest.
Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the full text and PDF versions of this article on the journal's Web site (www.jneuro-ophthalmology.com).