A Case Report of Lowe Syndrome Diagnosed By Linkage Analysis

INTRODUCTION Lowe oculocerebrorenal syndrome is a rare X-linked distract characterized by major deviateities of the lens, channeliseland and kidneys. It leads to the clinical triad of cataract formation during proto(prenominal) infancy, mental retardant and a broad range of renal abnormalities, including incomplete hydrogen change resumption, renal tubular acidosis and end-stage kidney disorder (Lowe, Terrey, MacLachan, 1952, 83:164-84.)[1, 2]. The OCRL1 gene is regulate on chromosome Xq25-26(Lowe, Terrey, MacLachan, 1952, 83:164-84.)1 .Over 70 mutations have been identified. ( Charnas & deoxyadenosine monophosphate; 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 make up abnormal cell migration and differentiation.( Suchy & Nussbaum, 2002;71:1420-1427)4 CLINICAL REPORT This boy was the buffalo chip 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 internal cataracts after birth. Cranial echography showed features of generalized brain atrophy. Chromosome abridgment showed a normal 46,XY anthropoid karyotype and the TORCH screen was negative. nephritic and abdominal ultrasound findings were unremarkable. His psychomotor development was severe delay, with posing unsupported at 14 months, independent ambulation at 2 years and speaking his firstborn 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 frontlet circumference below the 5th percentile for age. The face was three-sided in appearance; the lead was dolichocephalic with frontal bossing; hairline was receded anteriorly. The eyeball were deeply set. The ears were large, protruding, but unremarkably placed. The palate was highly arched. The philtrum was boastful and elongated; the upper viva fissure was thin. He had numerous dental carries, some of... If you extremity to fill a undecomposed essay, order it on our website: Orderessay

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