Page 1 of 1: clinical question

2shar · Credits: 7830 My Scrapbook

A two yr old mentally retarted boy is known to have cataracts since birth and generalized aminoaciduria.His mother has lenticular opacities too.Diagnosis please!!!!!

guest · Credits: 79379 My Scrapbook My Reading List 262569 Books

It is lowe syndrome or oculocerebrorenal dystrophy

drkbravva · Credits: 24046 My Scrapbook My Reading List 1 Books

Lowe Syndrome --X-LINKED DISORDER

Important

It is possible that the main title of the report Lowe Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

Cerebro-Oculorenal Dystrophy
Lowe's Disease
Lowe-Bickel Syndrome
Lowe-Terry-MacLachlan Syndrome
LS
OCRL
Oculocerebrorenal Dystrophy
Oculocerebrorenal Syndrome
Renal-Oculocerebrodystrophy
Disorder Subdivisions

None
General Discussion

Lowe Syndrome, also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized by lack of muscle tone (hypotonia), multiple abnormalities of the eyes and bones, the presence at birth of clouding of the lenses of the eyes (cataracts), mental retardation, short stature, and kidney problems. Other findings may include protrusion of the eyeball from the eye socket (enophthalmos); failure to gain weight and grow at the expected rate; weak or absent deep tendon reflexes; and multiple kidney problems (e.g., renal tubular dysfunction, renal hyperaminoaciduria, etc.). Lowe Syndrome is inherited as an X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5 phosphatase

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