Denouement and Discussion
Oculocerebrorenal Syndrome (Lowe syndrome)
Major manifestations include cataracts, glaucoma, hypotonia, mental and growth retardation, generalized hyperaminoaciduria, and proteinuria.Cataracts are present at birth. Other eye findings include buphthalmos, corneal scarring, superficial granulations, and nystagmus. Frontal bossing is frequently present and the lips may be prominent. Neurological manifestations consist of hypotonia, absent or decreased deep tendon reflexes, hyperactivity, seizures, and severe mental retardation. A high-pitched cry is commonly present and cryptorchidism is frequently noted.Renal tubular dysfunction causes a generalized hyperaminoaciduria, proteinuria, renal tubular acidosis with impaired bicarbonate conservation, phosphaturia, hypophosphatemia, elevated alkaline phosphatase, decreased carbon dioxide, hematuria, pyuria, and granular casts. Generalized bony demineralization occurs resulting in the classical findings of rickets.
The syndrome is most likely inherited in an X-linked fashion. There are some reports of the female carriers having fine lenticular opacities by slit-lamp examination.
The cataracts and glaucoma should be treated
Gellis SS, Feingold M, Mollica F, Pavone L. Picture of the Month. Am J Dis Child. 1972;124(6):891-892. doi:10.1001/archpedi.1972.02110180093013