Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype

Author:

Burrill Natalie1,Khalek Nahla12,Oliver Edward R.13,Linn Rebecca45,Victoria Teresa6,Yates Carin7,Moldenhauer Julie S.12

Affiliation:

1. Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Department of Surgery Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania USA

3. Department Radiology Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania USA

4. Division of Anatomic Pathology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

5. Division of Pathology and Laboratory Medicine Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania USA

6. Division of Radiology Massachusetts General Hospital Boston Massachusetts USA

7. GeneDx Gaithersburg Maryland USA

Abstract

AbstractOculocerebrorenal syndrome (Lowe syndrome) is a rare X‐linked disorder affecting 1/500,000 males that most frequently affects the eyes, central nervous system, and kidneys. Phenotypic presentation includes congenital cataracts, developmental delay, intellectual disability, and Fanconi‐type renal dysfunction. Lowe Syndrome is caused by hemizygous loss of function variants in the OCRL gene. While individuals may live into the third and fourth decade of life, some will die in the first few years of either renal failure or infection. While early diagnosis is important, few cases have documented the prenatal phenotype of this condition, which has included bilateral cataracts and variable neurological abnormalities. We report a case of a family with an extensive history of congenital cataracts, immune compromise, and neonatal death in male members. The fetus was found to have a unilateral cataract, mild ventriculomegaly, vertebral anomalies, and an underlying diagnosis of Lowe Syndrome with a mutation in OCRL at c.2582‐1G>C (IVS23‐1G>C).

Publisher

Wiley

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