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Neuropediatrics 1988; 19(1): 7-9
DOI: 10.1055/s-2008-1052393
© Georg Thieme Verlag KG Stuttgart · New York

MRI Findings and Peripheral Neuropathy in Lowe's Syndrome

L .  Charnas1 , J.  Bernar1 , G. H. Pezeshkpour2 , M.  Dalakas3 , G. S. Harper4 , W. A. Gahl4
  • 1Section of Human Biochemical Genetics, Human Genetics Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA
  • 2Neuromuscular Division, Armed Forces Institute of Pathology, Washington, D.C. 20306-6000, USA
  • 3Infectious Diseases Branch, National Institute of Neurological and Communicative Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
  • 4Section on Human Biochemical Genetics, Human Genetics Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA
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Publication History

Publication Date:
19 May 2008 (online)

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Abstract

Neurologic features of oculocerebrorenal (Lowe) syndrome include mental retardation, hypotonia, and areflexia. We performed a sural nerve biopsy, computerized tomography (CT) scan, and magnetic resonance imaging (MRI) scan on a 14-year-old boy with oculocerebrorenal syndrome with very mild renal disease. The nerve biopsy exhibited decreased number of myelinated fibers, normal myelination on remaining axons without redundant basal lamina, and no evidence of active degeneration or regeneration. MRI scan revealed diffuse and irregular foci of increased T2 signal with sparing of commissural fibers, pyramidal tracts, and cerebellar white matter. We conclude that both a peripheral axonopathy and a central demyelinating or gliotic process occurs in oculocerebrorenal syndrome in the absence of the severe renal disease that often complicates this disorder.

Key words

Lowe's syndrome - Oculocerebrorenal syndrome - Peripheral neuropathy - White matter

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