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Click 6-day-old male infant with hypotonia, bilateral congenital cataracts and macrocephaly, who was eventually diagnosed with Oculocerebrorenal syndrome of Lowe. Axial FLAIR MR imaging of the brain (Siemens 3 Tesla magnet, TR 9000, TE 137, 4 mm slice thickness) shows confluent regions of T2 prolongation within the periventricular white matter with sparing of the subcortical white matter, which is typical early in the course of the disease.

Click 12 month old with male failure to thrive and diagnosis of OCRL. Axial T2 MR imaging of the brain (Siemens 3 Tesla magnet, TR 11730, TE 91, 2.5 mm slice thickness) shows prominent perivascular spaces within the periventricular and deep white matter. Also, note the absence of the lens of the eyes as the patient has undergone cataract surgery.

Click 12 month old with male failure to thrive and diagnosis of OCRL. Coronal T2 MR imaging of the brain (Siemens 3 Tesla magnet, TR 11730, TE 91, 2.5 mm slice thickness) shows prominent perivascular spaces within the periventricular and deep white matter.