title: Central nervous system and renal investigations in patients with Lowe syndrome.
abstract: We describe three patients with Lowe (oculocerebrorenal) syndrome, emphasizing primarily the central nervous system and renal pathology. Using magnetic resonance imaging, we noted diffuse high T2 signals periventricularly, indicating significant white matter destruction, which may be responsible in part for the mental retardation, seizure disorder, hypotonia, and areflexia observed in the patients. In contrast to previously published reports, there was minimal renal tubular dysfunction; however, proteinuria was significantly increased in all patients. We believe that the observed proteinuria is primarily the result of glomerular pathology rather than renal tubular dysfunction and may represent a net loss of negative charges within the glomerular filter. This loss of charge may be linked to the increased excretion of glycosaminoglycans in the urine.
authors.affiliation: Child Development Center, Rhode Island Hospital, Providence 02903.
authors.forename: S M
authors.initials: SM
authors.lastname: Pueschel
authors.forename: A S
authors.initials: AS
authors.lastname: Brem
authors.forename: P
authors.initials: P
authors.lastname: Nittoli
mesh_terms: D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000175:diagnosis / Q000235:genetics; D002540:Cerebral Cortex / Q000503:physiopathology; D002648:Child; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D007677:Kidney Function Tests; D007684:Kidney Tubules / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D011507:Proteinuria / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome