Oculocerebrorenal Syndrome in a Female Child

Svorc, J

doi:10.1001/archpedi.1967.02090230116015

Cited by 15 publications

(8 citation statements)

References 13 publications

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“…Otherwise, the cause might be attributable to a 45,X karyotype, uniparental disomy or an extremely skewed X-inactivation, like the pattern with a ratio of 100:0 detected in a carrier with the full Lowe syndrome phenotype [145]. The causative defect was not ascertained in a further seven cases [146][147][148][149][150][151][152]. On the other hand, completely skewed X-inactivation of the OCRL mutation carrying X-chromosome was observed in a healthy carrier [136].…”

Section: Female Carriersmentioning

confidence: 98%

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

2015

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The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, cognitive and behavioral impairment and a renal proximal tubulopathy in almost all of the patients. Whereas the ocular manifestations and severe hypotonia are present at birth, the renal involvement appears within the first months of life. Patients show progressive growth retardation and may develop a debilitating arthropathy. Treatment is symptomatic and life span rarely exceeds 40 yr. The causative OCRL gene, encodes an inositol polyphosphate 5-phosphatase. OCRL mutations were not only found in classic Lowe syndrome, but also in milder affected patients, classified as having Dent-2 disease. There is a phenotypic continuum within patients with Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for loss of enzyme function. Researchers have conducted a large amount of work to understand the etiology responsible for the disease. However, the mechanisms leading to the clinical manifestations are still poorly understood and we are far from an effective therapy. In this review, we have included well-established findings and the most recent progress in understanding Lowe syndrome and Dent-2 disease.

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Section: Female Carriersmentioning

confidence: 98%

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

2015

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“…The eye abnormalities include congenital cataracts associated with impaired visual acuity, nystagmus, and glaucoma. The protean manifestations of Lowe syndrome suggest a gene involved in an important cellular function critical to multiple cell types [Zhang et al, 1995;Attree et al, 1992].First described by Lowe et al in 1952 in a male with mental retardation, congenital cataracts, aminoaciduria, and decreased ammonia production, a number of clinical reports have subsequently expanded the phenotype [Terslert et al, 1960;Dent and Smellie, 1961;Chutorian and Rowland, 1966;Svorc et al, 1967;Yokoi et al, 1981]. The renal Fanconi syndrome associated with OCRL, initially reported in 1954, is one of the most characteristic manifestations [Bickel and Thursby-Pelham, 1954].…”

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confidence: 99%

Unusual renal features of Lowe syndrome in a mildly affected boy

et al. 2000

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The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, mental retardation, and renal tubular dysfunction. The gene responsible for OCRL was identified by positional cloning and encodes a lipid phosphatase, phosphatidylinositol 4,5, bisphosphate [PtdIns(4,5)P2]5-phosphatase, which localizes to the Golgi apparatus and is suspected to play a role in Golgi vesicular transport [Suchy et al., 1995]. In addition to the ocular and renal manifestations, most boys with OCRL have cognitive problems and maladaptive behaviors including tantrums and stereotypies. We report a boy with a history of congenital cataracts and mild developmental delay who was also found to have hematuria with proteinuria but minimal signs of renal tubular dysfunction. Subsequent renal biopsy was compatible with a diagnosis of a noncomplement fixating chronic glomerulonephritis. Despite the atypical renal findings, skin fibroblast analysis for PtdIns (4,5)P2 5-phosphatase was performed, and enzyme activity was low, consistent with the diagnosis of OCRL. Western blot analysis from cell lysates showed the ocrl protein was decreased in size and amount. Our report shows atypical renal features of OCRL in a mildly affected boy. The possibility of OCRL should be considered in boys with cataracts and glomerular disease, even in the absence of renal tubular defects and frank mental retardation usually associated with the syndrome. Am. J. Med. Genet. 95:461-466, 2000. Published Wiley-Liss, Inc.

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“…: +96 41 4431760; Fax: +96 41 4257526; E-mail: almosawiAJ@hotmail.com. X-linked inheritance had been first suggested by Streiff et al [6] in 1958 because of the exclusive affection of male sibs; however, females with OCRS have been reported as early as 1960's and more than 10 females with OCRS phenotype have been reported during the previous 4 decades [7][8][9][10][11][12][13][14]. The gene responsible for OCRS has been mapped during 1980's to Xq24-Xq26 [15].…”

Section: Introductionmentioning

confidence: 99%

Oculocerebrorenal syndrome phenotype in four Iraqi children

Al-Mosawi¹

2015

J Pediatr Neurol

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The oculocerebrorenal syndrome (OCRS) is a rare hereditary disorder characterized by ocular and cerebral defects, hypotonia, hyporeflexia and renal dysfunction. The aim of this study is to report the phenotype OCRS in four Iraqi children. From 1994 to 2005, four patients (two boys and two girls) with OCRS phenotype were observed at Al-Kadhimiyia University Hospital. All described cases had congenital cataract(s), hypotonia and hyporeflexia and renal dysfunction. It was possible to study and follow three of them for several months, while the fourth case was observed only twice and then lost to follow up. Ocular manifestations in the three cases were in the form of cataract and glaucoma; one boy had immature cataracts not affecting the vision, and bilateral congenital chorioretinal hypoplasia. Two boys had nystagmus during infancy, which was undetectable at time of referral of one case. All the patients had hypotonia and hyporeflexia, which developed after 3 years in one girl. Three patients had global developmental delay; however, intelligence and language was well developed in one girl. All the children had end stage renal failure with evidence of glomerular defect. None had any renal tubular dysfunction or Fanconi syndrome. Uremia was the cause of death in the three cases followed up during their first decade. Congenital chorioretinal hypoplasia, which had never been described in OCRS, was present in one among our cases.

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Oculocerebrorenal Syndrome in a Female Child

Cited by 15 publications

References 13 publications

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

Unusual renal features of Lowe syndrome in a mildly affected boy

Oculocerebrorenal syndrome phenotype in four Iraqi children

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