A Case Report of Lowe Syndrome Diagnosed By Linkage Analysis

INTRODUCTION Lowe oculocerebrorenal syndrome is a rare X-linked disorder characterized by study abnormalities of the lens, channeliseland and kidneys. It leads to the clinical triad of cataract formation during early infancy, mental slowdown and a broad range of renal abnormalities, including incomplete enthalpy carbonate resumption, renal tubular acidosis and end-st come along kidney disease (Lowe, Terrey, MacLachan, 1952, 83:164-84.)[1, 2]. The OCRL1 ingredient is find on chromosome Xq25-26(Lowe, Terrey, MacLachan, 1952, 83:164-84.)1 .Over 70 mutations have been identified. ( Charnas & international 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 occupation 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 clin ical 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 ultrasound showed features of generalized brain atrophy. Chromosome analysis showed a normal 46,XY virile 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 starting line words at 2 years.

He was diagnosed as Lowe syndr ome until age 4 years 10 months when he deve! loped metabolic acidosis after lower airway infection. On examination, his height, weight and occipital frontage circumference below the fifth percentile for age. The impudence 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 super 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: OrderCustomPaper.com

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