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Study Papers | Paediatrics | India | Volume 12 Issue 12, December 2023 | Popularity: 4.6 / 10
Floppy Infant - Lowes Oculocerebrorenal Syndrome - Case Report
Dr. Pallavi M, Dr. Shyam Sundar, Dr. Praveen Kumar
Abstract: Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,0001. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type) becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol bisphosphate 5 phosphatase is responsible for the disease2. Both enzymatic and molecular testing is available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Also Mutations of the inositol-5-phosphatase OCRL cause Lowe syndrome and Dent-II disease. Both are rare genetic disorders characterized by renal defects.
Keywords: Lowe syndrome, phosphatidylinositolbisphosphate 5 phosphatase, oculocerebrorenal syndrome, floppy infant
Edition: Volume 12 Issue 12, December 2023
Pages: 876 - 879
DOI: https://www.doi.org/10.21275/SR231209192637
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