MRI findings and peripheral neuropathy in Lowe's syndrome.
Neuropediatrics
; 19(1): 7-9, 1988 Feb.
Article
en En
| MEDLINE
| ID: mdl-2834662
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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Defectos Congénitos del Transporte Tubular Renal
/
Imagen por Resonancia Magnética
/
Enfermedades del Sistema Nervioso Periférico
/
Síndrome Oculocerebrorrenal
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Neuropediatrics
Año:
1988
Tipo del documento:
Article