title: Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome.
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.
authors: Department of Ophthalmology and Visual Sciences (CM), Washington University, St Louis, Missouri, USA.
authors: Collin
authors: C
authors: McClelland
authors: Ryan D
authors: RD
authors: Walsh
authors: Kudakwashe R
authors: KR
authors: Chikwava
authors: Mark P
authors: MP
authors: Johnson
authors: Peter
authors: P
authors: Mattei
authors: Grant T
authors: GT
authors: Liu
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D003106:Colon / Q000002:abnormalities* / Q000473:pathology; D015785:Eye Diseases, Hereditary / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000150:complications* / Q000473:pathology; D009130:Muscle, Smooth / Q000473:pathology*; D015878:Mydriasis / Q000150:complications* / Q000473:pathology; D001743:Urinary Bladder / Q000002:abnormalities* / Q000473:pathology; D055815:Young Adult