ESPE Abstracts

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked and multisystem disorder with clinical symptoms of congenital cataracts, severe mental retardation, hypotonia, areflexia, and incomplete Fanconi syndrome of the proximal renal tubules. We report a 15-year-old short stature male with a severe form of OCRL syndrome, diagnosed based on bilateral congenital cataract, proteinuria, tubulopathy, and dysmorphic findings. The physical examination revealed a height of 152 cm (-2.77 SD), a head circumference of 54 cm (-1.89 SD), and a weight of 45.2 kg (-2.11 SD). Additionally, he had dysmorphic findings, including bitemporal narrowing, deep-set eyes, microphthalmia, lens opacity in the left eye, prominent eyelashes, full lips, long philtrum, dysplastic ears, joint hypermobility, and hypoplasia in the nails. The neurological examination revealed stereotypic hand movements. In previous tests, it was observed that there was positive intermittent proteinuria in urine. The sequence analysis of OCRL1 revealed a novel and de novo hemizygous c.1432_1437delAAGTAT (P.Lys478_Tyr479del) nucleotide deletion in the patient, but not in his mother. Our aim is to draw attention to the rare cause of short stature presenting with proteinuria, and cataract, also emphasizes the importance of being careful when evaluating the laboratory.