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Urolithiasis (UL) is a common health problem in the world and the observed incidence of this disease is increasing in the infantile period. The study included cases of UL diagnosed before the age of two who had a comprehensive analysis for possible etiologic variables and were followed for a minimum of 6 months. Of the 60 patients included in the study, 37 were male, and the male/female ratio was 1.6. The average age at diagnosis is 8.5 +/- 4.5 months. Of the cases diagnosed 41 (68.3%) were before than 1 year of age. The average time for follow-up is 28.9 +/- 22.6 months. There was a family history of stone disease in 41 (68.3%) cases. Twenty-four (40%) patients were treated for dehydration at least once before stone disease was identified. The number of patients presenting with symptoms is 43 (71.7%). Restlessness was noted as the main symptom. In 17 (28.3%) patients, stone disease was found incidentally. Metabolic causes (n: 19, 31.6%) were determined to be the most common underlying cause, followed by UTI-related causes (n: 12, 20%). During the follow-up, 57 (64%) of the stones spontaneously disappeared. The size of 16 (18%) stones reduced, while the size of eleven remained same (13%). Following their absence, nine (15%) of the stones reappeared. The essential strategy is to identify high-risk groups, to closely monitor them, and to take preventative interventions against modifiable conditions such as dehydration if possible.

Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction. In this article, we report two maternal cousins with OCRL with a hemizygous p.Ala788Asp mutation in exon 22 of the OCRL gene. They presented with diverse features of selective proximal renal tubular defect and high serum levels of total cholesterol, low density lipoprotein cholesterol (LDL-C) and high density lipoprotein cholesterol (HDL-C).

1. The X-ray diffraction analysis demonstrated pure ammonium acid urate (AAU) calculus. 2. A pure AAU stone is a rather rare diagnosis in childhood; the actual etiology and pathophysiology of AAU stones are still not completely defined. We believe that a combination of dehydration episodes, presence of a chronic acidotic state, and intake of a low-protein diet due to propionic acidemia contributed to the development of AAU nephrolithiasis in our patient. 3. We think that these two entities are most probably related to each other rather than occurring coincidentally.