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Lowe Syndrome, also known as Oculocerebrorenal Syndrome, is a condition that primarily affects the eyes, brain and kidneys. Many individuals with Lowe Syndrome have delayed development, and intellectual ability ranges from normal to severely impaired. Some of the common signs and symptoms of Lowe Syndrome include cataracts in each eye, poor muscle tone, intellectual disability, and many more.
HOW IS LOWE SYNDROME DIAGNOSED?
Lowe syndrome is diagnosed when a reduced activity of the inositol polyphosphate 5-phosphatase OCRL-1 enzyme is demonstrated in cultured skin cells (fibroblasts). The general physician may recommend genetic testing to evaluate the condition.
HOW IS LOWE SYNDROME TREATED?
As the condition affects different body parts, there is a team of paediatric specialists needed to treat this condition. From a paediatric ophthalmologist, nephrologist, geneticist, nutritionist, endocrinologist, neurologist, child development specialist, general surgeon, to an orthopaedist and dentist will have to work in conjunction. Early removal of cataracts is recommended and use of eyeglasses is required for improving vision. Treatment of end-stage renal disease has been successfully treated with dialysis and kidney transplantation in some adult men.
DID YOU KNOW?
Other signs frequent in boys with Lowe Syndrome include short stature, dental cysts and abnormal dentin formation of the teeth, skin cysts and Vitamin D deficiency that can lead to soft bones, skeletal changes (rickets), bone fractures, scoliosis and degenerative joint disease.