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Cerebellar defect associated with Schimke immuno-osseous dysplasia

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Abstract

We report the finding of an absent cerebellar hemisphere and partial absence of the cerebellar vermis in a child with dysmorphic features, spondyloepiphyseal dysplasia, steroid resistant nephrotic syndrome secondary to focal segmental glomerulosclerosis and T-cell lymphopenia (Schimke immuno-osseous dysplasia). These findings have not, to our knowledge, been described before and are likely to represent the consequence of a vascular event either in-utero or in early infancy.

Conclusion Cerebral imaging should be performed early in the course of the disease and should be repeated if further neurological events develop.

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Received: 5 December 2000 / Accepted: 24 January 2001

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Dhillon, A., Chapman, S. & Milford, D. Cerebellar defect associated with Schimke immuno-osseous dysplasia. Eur J Pediatr 160, 372–374 (2001). https://doi.org/10.1007/s004310100747

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  • DOI: https://doi.org/10.1007/s004310100747

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