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
Related Articles
- EP ID EP120824
- DOI -
- Views 98
- Downloads 0
Health Issues in Medical Students: How We Need To Take Care of Our Future Generation Doctors
Medical profession is one of the most coveted professions in the society. During the medical course, individuals are subjected to much stress and hardships. Many fail to cope up and quit the course or even land up in...
Impaired Fasting Glucose and Associated Anthropometry among Students of a Medical College in Coastal Kerala, India
Background: India being the diabetic capital need to emphasize on preventive strategies to reduce the incidence of diabetes and thus reduce the burden on health services and resources of the country. The identificati...
Idiopathic Calcinosis Cutis over Back
Calcinosis Cutis is characterized by the deposition of calcium salts in the skin and subcutaneous tissue. Idiopathic Calcinosis Cutis is a rare condition and hence is usually a diagnosis of exclusion. Idiopathic Calcinos...
Rouviere's Sulcus as an Anatomical Landmark for Safe Laparoscopic Cholecystectomy
Background: Laparoscopic cholecystectomy is associated with more biliary, vascular and visceral complications when compared with open cholecystectomy. This study was undertaken to assess the utility of Rouviere's Sulcus...
In Vitro Biofilm Formation by Uropathogenic Bacteria and their Antibiotic Susceptibility Pattern
Background: Uropathogens have an ability to form biofilm in urinary tract. Microorganisms growing in biofilm are associated with chronic and recurrent UTI. They are highly resistant to a variety of antimicrobial agen...