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Lowe Syndrome is a condition that primarily affects the eyes, brain and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe Syndrome are born with thick clouding of the lenses in both eyes, often with other eye abnormalities that can impair vision. About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes. Many individuals with Lowe Syndrome have delayed development and intellectual ability ranges from normal to severely impaired. Behavioral problems and seizures have also been reported in children with this condition.
HOW IS LOWE SYNDROME DIAGNOSED?
Diagnosis of OCRL is based on specific ophthalmologic, neurologic and renal abnormalities. Laboratory findings reveal features of renal Fanconi syndrome (hypercalciuria, with nephrocalcinosis and nephrolithiasis, generalized hyperaminoaciduria, hypokalemia, low-molecular weight proteinuria) and elevations in plasma creatine kinase, lactate dehydrogenase and transaminases levels. Brain imaging reveals brain atrophy, delayed myelination, pachygyria, hydrocephalus as well as gliotic lesions suggestive of periventricular leukomalacia. Perinatal diagnosis may be achieved by detection of low molecular weight proteinuria. Diagnosis is confirmed by genetic screening of OCRL.
HOW IS LOWE SYNDROME TREATED?
Treatment of Lowe Syndrome usually requires a team of medical professionals including a pediatric ophthalmologist, nephrologist, geneticist, nutritionist, endocrinologist, neurologist, child development specialist, general surgeon, orthopedist and dentist. Treatment of OCRL includes early cataract extraction to avoid amblyopia, glaucoma control by either medications or surgery, eyeglasses or contact lenses to improve visual function. Nasogastric tube feedings or feeding gastrostomy may be required.
DID YOU KNOW?
Early intervention programs that include physical therapy, occupational therapy, speech and language therapy, special education services and services for visually impaired are recommended and should begin in early infancy for better prognosis.