A Case Report of Lowe Syndrome Diagnosed By Linkage Analysis

INTRODUCTION Lowe oculocerebrorenal syndrome is a rare X-linked ailment characterized by major brachydactylicities of the lens, channeliseland and kidneys. It leads to the clinical triad of cataract formation during aboriginal infancy, mental retardant and a broad range of renal abnormalities, including incomplete hydrogen carbonate resumption, renal tubular acidosis and end-stage kidney infirmity (Lowe, Terrey, MacLachan, 1952, 83:164-84.)[1, 2]. The OCRL1 gene is obtain on chromosome Xq25-26(Lowe, Terrey, MacLachan, 1952, 83:164-84.)1 .Over 70 mutations have been identified. ( Charnas & group A; 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 activity results in increased enzyme substrate and abnormal distribution of acting-binding proteins that may lavatory abnormal cell migration and differentiation.( Suchy & Nussbaum, 2002;71:1420-1427)4 CLINICAL REPORT This boy was the combat 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 indispensable cataracts aft(prenominal) birth. Cranial sonography showed features of generalized brain atrophy. Chromosome depth psychology showed a normal 46,XY phallic karyotype and the TORCH screen was negative. renal and abdominal ultrasound findings were unremarkable. His psychomotor development was severe delay, with sit unsupported at 14 months, independent ambulation at 2 years and speaking his low gear words at 2 years.

He was diagnosed as Lowe syndrome until age 4 years 10 months when he developed metabolic acidosis after lower airway infection. On examination, his height, weight and occipital mountain pass-on circumference below the 5th percentile for age. The face was triangular in appearance; the head was dolichocephalic with frontal bossing; hairline was receded anteriorly. The look were deeply set. The ears were large, protruding, but normally placed. The palate was highly arched. The philtrum was braggy and elongated; the upper vocal fissure was thin. He had many dental carries, some of... If you essential to fill a blanket(a) essay, order it on our website: Ordercustompaper.com

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