A novel pathogenic DNA variation in the OCRL1 gene in Lowe syndrome.
Bottom Line: He had deep-set small eyes, frontal bossing, flat occiput, parietal prominence, bilateral congenital cataract, cryptorchid left testis, joint hypermobility, decreased muscle tone, and hyporeflexia.Biochemical analysis revealed the characteristic findings of renal Fanconi syndrome.Genetic analysis showed a novel pathogenic DNA variation (c.1528C>T) in exon 15 of the OCRL1 gene.
Affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey. email@example.comShow MeSH
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Mentions: A 24-month-old boy was referred to our hospital with delayed motor milestones, hypotonia, involuntary purposeless movements of hands and feet, congenital cataract, severe feeding difficulties, and failure to thrive. His past medical history revealed that he was born at term after a normal pregnancy period. He is the first child of a non-consanguineous marriage, and detailed pedigree analysis did not show any positive family history. Birth weight was 3600 g. Length at birth was 51 cm and head circumference 35.5 cm. The boy was on breastfeeding for only two months, and thereafter, on formula feeding for 8 months. At 24 months of age, he could not crawl or walk and could not sit without support. He was hospitalized several times to investigate the cause of his failure to thrive and recurrent respiratory tract infections, but there was no specific diagnosis to explain his symptoms and signs. Physical examination at age 24 months revealed a body weight of 7350 g (-5.1 SDS). Length was 71 cm (-5.1 SDS) and head circumference 45 cm (-3.9 SDS). He had deep-set small eyes, frontal bossing, a flat occiput, parietal prominence, bilateral congenital cataract, cryptorchidism on the left side, joint hypermobility, decreased muscle tone, and hyporeflexia (Figure 1). The laboratory investigations are presented in Table 1. Serum thyroxine (T4) and free thyroxine (fT4) levels were low, while serum thyrotropin (TSH) level was in normal ranges. Radiographs of the wrists and knees demonstrated metaphyseal flaring, which is a characteristic sign of rickets. Renal ultrasonography showed evidence of nephrocalcinosis. The diagnosis of OCRL was based on the findings of congenital cataract, hypotonia, delayed motor developmental milestones, and renal Fanconi syndrome. Ophthalmological examination revealed bilateral congenital cataract and normal intraocular pressure. Cataract surgery was performed within the first month of hospital admission. For the management of his renal tubular acidosis, sodium citrate and potassium citrate (Polycitra) were administered. Neutral phosphate and calcitriol were administered to manage hypophosphatemic rickets. Following replacement therapy, serum TSH level was 3.7 μIU/mL and fT4 increased to 1.42 ng/dL.
Affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey. firstname.lastname@example.org