@Article{Strzoda2024,
journal="Pediatria Polska - Polish Journal of Paediatrics",
issn="0031-3939",
volume="99",
number="1",
year="2024",
title="Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome",
abstract="Lowe syndrome (oculocerebrorenal syndrome of Lowe – LS) is an ultra-rare, recessive X-linked, multisystem disorder that primarily occurs in males and affects the eyes, nervous system, and kidneys. It is a consequence of mutation of the OCRL gene on chromosome Xq25-26, which encodes phosphatidylinositol 4,5-bisphosphate 5 phosphatase, a protein present in the Golgi complex, lysosomes, and endosomes. The most common symptoms of LS involve congenital cataracts, neurological retardation, and incomplete Fanconi syndrome, ultimately leading to end-stage renal disease between the second and fourth decade of life. The authors present a boy with the intoxication of vitamin D3 and suspicion of congenital cytomegaly eventually diagnosed with LS at the age of 16 months.",
author="Strzoda, Adam Jan
and Sobieszczańska-Droździel, Aleksandra
and Kamińska, Magdalena",
pages="89--93",
doi="10.5114/polp.2024.135847",
url="http://dx.doi.org/10.5114/polp.2024.135847"
}