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Hypercalciuria and Nephrocalcinosis in the Oculocerebrorenal syndrome
The Journal of Urology, 1995The oculocerebrorenal (Lowe) syndrome is an X-linked recessive disorder characterized by congenital cataracts, hypotonia, developmental delay, poor growth and renal tubular dysfunction. Although the disorder has been mapped to chromosome Xq24-26, the underlying metabolic defect remains unknown. The renal component of the Lowe syndrome comprises tubular
G A, Sliman +3 more
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Oculocerebrorenal Lowe syndrome: a literature review and two case reports
Special Care in Dentistry, 2007ABSTRACTThe present paper reviews the dental findings in oculocerebrorenal Lowe syndrome and presents two case histories. Reports of different patients are useful in order to enhance knowledge about the syndrome, because there are so many different oral manifestations.
Maria Teresa Botti, Rodrigues Santos +4 more
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Arthropathy of Lowe's (Oculocerebrorenal) Syndrome
Arthritis & Rheumatism, 1983AbstractWe describe 3 children with Lowe's syndrome who developed joint manifestations—‐a previously rarely recognized feature. Two children had swelling and contractures of large and small joints; the third child had a small joint effusion and hypermobile joints.
B H, Athreya +5 more
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Oculocerebrorenal Syndrome of Lowe
Archives of Ophthalmology, 1967A male infant born four weeks prematurely was placed in oxygen for six weeks. Cataracts were noted. At 6 months of age the corneas were diffusely cloudy and tensions were 37 mm (Schiotz). The pupils were tiny and unresponsive to mydriatic drugs. The infant was small and underweight. Muscular hypotony and hyporeflexia were evident.
N F, Fisher, J, Hallett, G, Carpenter
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Mitochondrial Defects in Lowe's Oculocerebrorenal Syndrome
Archives of Neurology, 1984We performed biochemical studies on isolated mitochondria from a muscle biopsy specimen in a patient with Lowe's syndrome. Respiratory controls of mitochondrial preparations with substrates reducing nicotinamide adenine dinucleotide and with a flavoprotein-linked substrate were markedly diminished, but the oxygen consumption was normal with ascorbate ...
J M, Gobernado +3 more
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American Journal of Diseases of Children, 1969
THE oculocerebrorenal syndrome or Lowe's syndrome is a disease characterized by mental retardation, glaucoma, cataract, hypotonia, hyporeflexia, and vitamin D resistant rickets. Biochemical abnormalities of the syndrome include amino-aciduria, decreased ammonia production by the kidney, metabolic acidosis, organic aciduria, proteinuria, and ...
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THE oculocerebrorenal syndrome or Lowe's syndrome is a disease characterized by mental retardation, glaucoma, cataract, hypotonia, hyporeflexia, and vitamin D resistant rickets. Biochemical abnormalities of the syndrome include amino-aciduria, decreased ammonia production by the kidney, metabolic acidosis, organic aciduria, proteinuria, and ...
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Glaucoma With the Oculocerebrorenal Syndrome of Lowe
Journal of Glaucoma, 2005To further describe the glaucoma with the oculocerebrorenal syndrome of Lowe (OCRL) including the responsible filtration angle abnormalities and response to treatment.The scientific literature regarding the glaucoma associated with OCRL from 1952, when the first report of the syndrome appeared, to the present was reviewed.
David S, Walton +2 more
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Orthopedic Manifestations of the Lowe (Oculocerebrorenal) Syndrome
Journal of Pediatric Orthopaedics, 1986Lowe oculocerebrorenal syndrome (OCRS), as previously described in the literature, consists of a well-defined constellation of clinical findings involving the eyes, cerebrum, and kidneys. However, the only musculoskeletal abnormalities reported in patients with OCRS have been joint hypermobility, recurrent fractures, rickets, tenosynovitis, and joint ...
J L, Holtgrewe, V, Kalen
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MR findings and neurologic manifestations in Lowe oculocerebrorenal syndrome
Pediatric Neurology, 1996Two patients with oculocerebrorenal syndrome are described. Both had abnormal findings on electroencephalography and developed seizure episodes. Although Patient 2 manifested abnormal electroencephalographic findings at the age of 6 years, he did not develop seizures until the age of 9 years.
J, Ono +4 more
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