Mental retardation and seizure disorder in schimke immunoosseous dysplasia

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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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

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Mental Disorders
Intellectual Disability
Osteochondrodysplasias
Epilepsy
Nephrotic Syndrome
Blood Vessels
Encephalomalacia
Malignant Hypertension
T-Lymphocytes
Inheritance Patterns
Parietal Lobe
Magnetic Resonance Angiography
Middle Cerebral Artery
Brain
Cellular Immunity
Nervous System
Seizures
Magnetic Resonance Imaging
Phenotype
Schimke immunoosseous dysplasia

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Sigurdardottir, Solveig ; Myers, Scott M. ; Woodworth, James M. ; Raymond, Gerald. / Mental retardation and seizure disorder in schimke immunoosseous dysplasia. In: American Journal of Medical Genetics. 2000 ; Vol. 90, No. 4. pp. 294-298.
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Mental retardation and seizure disorder in schimke immunoosseous dysplasia. / Sigurdardottir, Solveig; Myers, Scott M.; Woodworth, James M.; Raymond, Gerald.

In: American Journal of Medical Genetics, Vol. 90, No. 4, 17.02.2000, p. 294-298.

Research output: Contribution to journalArticle

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