Congenital diaphragmatic hernia in Lowe syndrome: a rare association?

摘要

Lowe disease (oculocerebrorenal syndrome MIM 309000) is an X-linked recessive condition characterized by defects affecting the eyes, renal and neurological systems (Lowe et a/., 1952). It is caused by a mutation in the oculocerebrorenal syndrome of Lowe 1 (OCRL1) gene encoding the enzyme phosphatidylinositol 4,5 bisphosphonate 5-phosphatase (PIP2 5-phosphatase). We report a boy with Lowe syndrome who had a congenital diaphragmatic hernia (CDH). To the best of our knowledge, CDH has not been reported earlier in association with Lowe syndrome.