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A Case Report Of Lowe Syndrome Diagnosed By Linkage Analysis

1232 words - 5 pages

INTRODUCTIONLowe oculocerebrorenal syndrome is a rare X-linked disorder characterized by major abnormalities of the lens, brain and kidneys. It leads to the clinical triad of cataract formation during early infancy, mental retardation and a broad range of renal abnormalities, including incomplete bicarbonate resumption, renal tubular acidosis and end-stage kidney disease (Lowe, Terrey, MacLachan, 1952, 83:164-84.)[1, 2]. The OCRL1 gene is located on chromosome Xq25-26(Lowe, Terrey, MacLachan, 1952, 83:164-84.)1 .Over 70 mutations have been identified. ( Charnas & 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 cause abnormal cell migration and differentiation.( Suchy & Nussbaum, 2002;71:1420-1427)4CLINICAL REPORTThis boy was the second 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 congenital cataracts after birth. Cranial ultrasound showed features of generalized brain atrophy. Chromosome analysis showed a normal 46,XY male karyotype and the TORCH screen was negative. Renal 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 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 frontal 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 eyes were deeply set. The ears were large, protruding, but normally placed. The palate was highly arched. The philtrum was prominent and elongated; the upper lip was thin. He had numerous dental carries, some of which were surgically removed. His genitalia showed prepubertal male with undescended testicles. He had decreased muscle strength and clumsy gait. Laboratory showed decreased level of Na, 132 mmol/L, K, 3.0 mmol/L and Ca, 8.7 mg/dl phosphate, 3.3 mg/dl and normal anion gap metabolic acidosis. Elevated serum chloride is found to be 108 mmol/L, Mg 2.7 mg/dl. BUN/Cre 12.6/0.46. Proximal tubular acidosis with diffuse hyperaminoaciduria was documented with a decreased bicarbonate reabsorption threshold. There was no glucosuria.Treatment consisted of alkalization by sodium bicarbonate (3 mg/kg/day) that corrected acidosis and growth. He currently is attending 2nd grade in the public school system, where he receives supplemental speech therapy, physical therapy, and vision and occupational therapies. There has been no formal IQ testing performed. His mother reports that he is able to keep up...

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