A Case Report of Lowe Syndrome Diagnosed By Linkage Analysis

INTRODUCTION Lowe oculocerebrorenal syndrome is a rare X-linked disorder characterized by major abnormalities of the lens, channeliseland and kidneys. It leads to the clinical triad of cataract formation during early infancy, mental lag and a broad range of renal abnormalities, including incomplete henry carbonate resumption, renal tubular acidosis and end-st duration kidney disease (Lowe, Terrey, MacLachan, 1952, 83:164-84.)[1, 2]. The OCRL1 element is find on chromosome Xq25-26(Lowe, Terrey, MacLachan, 1952, 83:164-84.)1 .Over 70 mutations have been identified. ( Charnas & ampere; Gahl, 1990; 38:75-107.)2 The OCRL gene encodes phosphatidylinositol 4, 5-biphospsphate 5-phosphatase (ocrl1p) is present in the Golgi complex, and reduced enzyme legal action results in increased enzyme substrate and abnormal distribution of acting-binding proteins that may stool abnormal cell migration and differentiation.( Suchy & Nussbaum, 2002;71:1420-1427)4 clinical REPORT This boy was the fleck child of non-consanguineous healthy parents and had a birth weight of 2.9 kg at 40 weeks of gestation. He had generalized hypotonia and inseparable cataracts after birth. Cranial ultrasonography showed features of generalized brain atrophy. Chromosome analysis showed a normal 46,XY phallic karyotype and the TORCH screen was negative. nephritic and abdominal ultrasound findings were unremarkable. His psychomotor development was severe delay, with sitting unsupported at 14 months, independent ambulation at 2 years and speaking his first base words at 2 years.

He was diagnosed as Lowe syndrome until age 4 years 10 months when he developed metabolous acidosis after lowe! r airway infection. On examination, his height, weight and occipital head-on circumference below the fifth percentile for age. The causa was triangular in appearance; the head was dolichocephalic with frontal bossing; hairline was receded anteriorly. The eyes were deeply set. The ears were large, protruding, but unremarkably placed. The palate was exceedingly arched. The philtrum was prominent and elongated; the upper oral fissure was thin. He had numerous dental carries, some of... If you want to fill a full essay, order it on our website: BestEssayCheap.com

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