Steroid Sulfatase Deficiency With Bilateral Periventricular Nodular Heterotopia

Ozawa, Hiroshi; Osawa, Maki; Nagai, Toshiro; Sakura, Nobuo

doi:10.1016/j.pediatrneurol.2005.08.015

« Previous Next »Pediatric Neurology
Volume 34, Issue 3 , Pages 239-241, March 2006

Steroid Sulfatase Deficiency With Bilateral Periventricular Nodular Heterotopia

Hiroshi Ozawa, MD
- Department of Handicapped Children’s Support, Shimada Center for Rehabilitation and Neurodevelopmental Intervention, Tama-city, Tokyo, Japan
- Department of Pediatrics, Tokyo Metropolitan Hachioji Children’s Hospital, Hachioji-city, Tokyo, Japan
- Communications should be addressed to: Dr. Ozawa; Department of Pediatric Neurology; Shimada Center for Rehabilitation and Neurodevelopmental Intervention; Tama-city; Tokyo, Japan
Maki Osawa, MD
- Department of Pediatrics, Tokyo Metropolitan Hachioji Children’s Hospital, Hachioji-city, Tokyo, Japan
Toshiro Nagai, MD
- Department of Pediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Koshigaya-city, Saitama, Japan
Nobuo Sakura, MD
- Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima-city, Hiroshima, Japan

Received 9 February 2005; accepted 5 August 2005.

This report presents a case of steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. A 13-year-old male was diagnosed as having steroid sulfatase deficiency because steroid sulfatase activity was not detected in his leukocytes. In deoxyribonucleic acid studies, steroid sulfatase locus and adjacent loci were found to be deleted in his deoxyribonucleic acid. Cranial magnetic resonance imaging revealed periventricular nodular heterotopia, disclosing an irregular contour of the lateral walls of the lateral ventricles due to small nodular masses that were isointense as to the gray matter. In steroid sulfatase deficiency patients, bilateral periventricular nodular heterotopia must be considered.