title: MRI findings and peripheral neuropathy in Lowe's syndrome.
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.
authors.affiliation: Section of Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland 20892.
authors.forename: L
authors.initials: L
authors.lastname: Charnas
authors.forename: J
authors.initials: J
authors.lastname: Bernar
authors.forename: G H
authors.initials: GH
authors.lastname: Pezeshkpour
authors.forename: M
authors.initials: M
authors.lastname: Dalakas
authors.forename: G S
authors.initials: GS
authors.lastname: Harper
authors.forename: W A
authors.initials: WA
authors.lastname: Gahl
mesh_terms: D000293:Adolescent; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D010523:Peripheral Nervous System Diseases / Q000150:complications*; D015499:Renal Tubular Transport, Inborn Errors / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed