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The term Lowe Syndrome is used for defining a disease that basically impacts your brain functions along with kidneys and eyes. Usually the symptoms start appearing from childhood and such individuals would have delayed development physically and mentally. They would have weaker muscle tone right from birth, problems in breathing and trouble coping with everyday activities.
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?
Treatments require intensive supplements being provided to the child along with monitoring acid-base status and electrolyte levels. Hormonal therapy is also suggested along with use of HGH, that is known to boost development.
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.