Article
Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature.
BMC medical genetics - 15 Apr 2020
Nishiyama Kei, Kurokawa Mari, Torio Michiko, Sakai Yasunari, Arima Mitsuru, Tsukamoto Shoko, Obata Satoshi, Minamikawa Shogo, Nozu Kandai, Kaku Noriyuki, Maehara Yoshihiko, Sonoda Koh-Hei, Taguchi Tomoaki, Ohga Shouichi
Abstract excerpt
BACKGROUND: Pierson syndrome (PS) is a rare autosomal recessive disorder, characterized by congenital nephrotic syndrome and microcoria. Advances in renal replacement therapies have extended the lifespan of patients, whereas the full clinical spectrum of PS in infancy and beyond remains elusive. CASE PRESENTATION: We present the case of a 12-month-old boy with PS, manifesting as the bilateral microcoria and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.