Congenital Cataracts, Renal Tubular Necrosis and Encephalopathy in Two Sisters.
نویسندگان
چکیده
We present here an account of two infant sisters suffering from a congenital and, probably, inherited disease, the chief features of which were epilepsy, cataracts, renal tubular necrosis and an encephalopathy comprising micrencephaly, lack of myelination and cerebellar dysplasia. The condition resembles the so-called Marinesco-Sjogren syndrome and also the oculo-cerebro-renal (Lowe's) syndrome, although it may be quite distinct from each of these.
منابع مشابه
Nefro - 24-3 - MIOLO.indd
Oculocerebrorenal or Lowe Syndrome is characterised by bilateral congenital cataracts, renal tubular dysfunction and hypotonia. It is a rare X -linked disorder caused by mutations of the OCRL1 gene located at Xq26.1, resulting in phosphatidylinositol 4,5 -bisphosphate (PIP2) 5 phosphatase deficiency. The diagnosis is based on morphological characteristics. Pre and postnatal diagnosis is made by...
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Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction. In this article, we report two maternal cousins with OCRL with a hemizygous p.Ala788Asp mutation in exon 22 of the OCRL gene. They presented with diverse features of selective proximal renal ...
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Received January 3, 2007 Abstract Oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked recessive disorder characterised by congenital cataracts, mental retardation, and renal tubular dysfunction. OCRL is caused by mutations in the OCRL gene, which encodes for an enzyme phosphatidylinositol 4,5-biphosphate 5-phosphatase [PtdIns (4,5)P2-5ase]. Deficiency of this enzyme impairs proper intr...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 38 شماره
صفحات -
تاریخ انتشار 1963