Objective: I-cell disease is an inherited lysosomal storage disorder complicated with multiple abnormalities included musculoskeletal anomaly. We repot a case with temporary bony defect over maxilla detected via ultrasound at 2nd trimester diagnosed as I-cell disease in the postnatal period.
Methods: A 23 year-old, gravida 1 female was referred to our department at 20 weeks of gestation due to cleft lip diagnosed outside. Detail ultrasound revealed small bony defect over maxilla and borderline ventricular megaly. Chomosome anlysis via amniocentesis revealed 46XY karyotype. The male baby was delivered at 37 weeks of gestation via vaginal delivery with birth body weight 2105g without gross anomaly after birth. Development delay and recurrent respiratory infection and aspiration pneumonia were noted. X-ray imaging revealed dysostosis multiplex. The infant was died 1 years later.
Results: I-cell disease was diagnosed by plasma enzyme analysis in the postnatal period. None of the parents had a history of I-cell disease. Further genetic analysis revealed mutations at c2422delC and c3565C>T. Both are nonsense mutation.
Conclusions: Prenatal diagnosis of metabolic storage disease is difficult. Temporary bony defect over maxilla detected at prenatal period maybe a novel sign of I-cell disease.