Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe): A Case Report fromEastern India
Journal Title: Journal of Krishna Institute of Medical Sciences University - Year 2014, Vol 3, Issue 1
Abstract
Lowe syndrome (the oculocerebrorenal syndrome ofLowe, OCRL) is a rare X-linked recessive metabolicdisorder that primarily affects eyes, kidneys and brain.It is caused by the deficiency of enzymephosphatidylinositol 4, 5-bisphosphate 5-phosphatase.The gene coding for this enzyme, OCRL1 and mutationsin it are responsible to cause Lowe Syndrome.We report a 6 years old boy from Eastern India, withLowe Syndrome. Diagnosis was suggested by typicalfeatures in the MRI of the brain along with other clinicalfeature and investigation.
Authors and Affiliations
Dipankar Das , Shoumini Chakravarty , Jaydeb Ray
Keywords
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