Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia.
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.
Ozawa
Hiroshi
H
Department of Handicapped Children's Support, Shimada Center for Rehabilitation and Neurodevelopmental Intervention, Tama-city, Tokyo, Japan. h.ozawa@shimada-ryoiku.or.jp
Osawa
Maki
M
Nagai
Toshiro
T
Sakura
Nobuo
N
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D001921:Brain; D002552:Cerebral Ventricles / Q000473:pathology*; D014695:Cerebral Ventriculography; D002828:Choristoma / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D003937:Diagnosis, Differential; D004292:Dominance, Cerebral / Q000502:physiology*; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000175:diagnosis / Q000235:genetics*; D020547:Lateral Ventricles / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D043266:Steryl-Sulfatase / Q000235:genetics
D043266:Steryl-Sulfatase