Mental retardation and seizure disorder in schimke immunoosseous dysplasia

Solveig Sigurdardottir, Scott M. Myers, James M. Woodworth, Gerald V. Raymond

Research output: Contribution to journalArticle

Abstract

Schimke immunoosseous dysplasia (SID) is a rare, pleiotropic disorder compromising 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 been suggested. Understanding of the clinical phenotype is evolving; however, the neurologic spectrum is not well known. We report on a 17-year- old woman who presented with behavior changes, developmental regression, and partial complex seizures in early childhood. Computed tomographic scan of the brain was normal at that time. Short stature and cognitive deficits became evident several months later. At 4 1/2 years, she developed nephrotic syndrome and later malignant hypertension. Recent magnetic resonance imaging of the brain showed focal encephalomalacia in the parietal regions and a magnetic resonance angiography documented narrowing of the middle cerebral arteries. A skeletal survey showed evidence of spondyloepiphyseal dysplasia. We have not been able to identify an immune defect. To our knowledge this is the first reported patient with SID, profound mental retardation, and a seizure 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 immune deficit. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)294-298
Number of pages5
JournalAmerican journal of medical genetics
Volume90
Issue number4
DOIs
StatePublished - Feb 17 2000

Keywords

  • Cerebral infarction
  • Mental retardation
  • Nephrotic syndrome
  • Seizure disorder
  • Short stature
  • Spondyloepiphyseal dysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Mental retardation and seizure disorder in schimke immunoosseous dysplasia'. Together they form a unique fingerprint.

  • Cite this