Abstract
Lowe syndrome: Case report of a patient with a novel mutation in the OCRL gene
Highlights
The oculocerebrorenal (OCRL) syndrome of Lowe is an X linked, multisystem disorder characterised by a triad of abnormalities in the eyes, the nervous system and the renal tubules[1]
Flat nasal bridge, upward nystagmus, microcephaly, hypermobility of joints, hypotonia, severe global developmental delay and failure to thrive (Figure 2). Case report This baby boy was born of a non-consanguineous marriage in January 2013 at the Base Hospital, Kahawatta and bilateral cataracts were detected at birth
Congenital or childhood glaucoma has been observed in 50% of Lowe syndrome patients[4]
Summary
The oculocerebrorenal (OCRL) syndrome of Lowe is an X linked, multisystem disorder characterised by a triad of abnormalities in the eyes, the nervous system and the renal tubules[1]. This enzyme has been detected on vesicular structures of the endosomal system and the Golgi complex, and plays a main role in cellular metabolism The deficiency of this enzyme impairs the maturation of polarizing epithelium in neurons and glia, renal proximal tubule and lens[2]. He had frontal bossing, flat nasal bridge, upward nystagmus, microcephaly, hypermobility of joints, hypotonia, severe global developmental delay and failure to thrive (Figure 2). Flat nasal bridge, upward nystagmus, microcephaly, hypermobility of joints, hypotonia, severe global developmental delay and failure to thrive (Figure 2) Case report This baby boy was born of a non-consanguineous marriage in January 2013 at the Base Hospital, Kahawatta and bilateral cataracts were detected at birth.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
