Mental retardation and seizure disorder in schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia (SID) is a rare, pleiotropic disorder compr omising spondyloepiphyseal dysplasia, nephrotic syndrome, defective T-cell- mediated immunity, and vascular changes which can lead to cerebral infarcts , The cause is unknown but an autosomal recessive inheritance pattern has b een suggested. Understanding of the clinical phenotype is evolving; however , the neurologic spectrum is not well known. We report on a 17-year-old wom an who presented with behavior changes, developmental regression, and parti al complex seizures in early childhood. Computed tomographic scan of the br ain was normal at that time. Short stature and cognitive deficits became ev ident several months later. At 4 1/2 years, she developed nephrotic syndrom e and later malignant hypertension. Recent magnetic resonance imaging of th e brain showed focal encephalomalacia in the parietal regions and a magneti c resonance angiography documented narrowing of the middle cerebral arterie s. A skeletal survey showed evidence of spondyloepiphyseal dysplasia, We ha ve not been able to identify an immune defect. To our knowledge this is the first reported patient with SID, profound mental retardation, and a seizur e disorder. This case supports the theory that an intrinsic vascular defect may be more important in the pathogenesis of SID than a T-cell-mediated im mune deficit, (C) 2000 Wiley-Liss, Inc.