Dr. Bindu Kolavala, Dr. Gurudutt Mulky Kamath, Dr. Susan Dsouza, Dr. Ajay R Kamath
Oculocerebrorenal syndrome of Lowe is a rare X-linked recessive disorder . Here we present a case report of two male siblings of 9 years and 6 years of age who presented with bilateral congenital cataract . On further evaluation, we noticed severe hypotonia ,poor growth, developmental delay ,renal abnormalities. Both patients had aminoaciduria. Bilateral paediatric cataracts are also seen in syndromic patients. So, it is necessary to emphasize the importance of a thorough systemic examination , screening of other family members to fetch more information for the early diagnosis and treatment of rare genetic disorders like Lowe syndrome.