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December 1972

Picture of the Month

Author Affiliations

Boston; Clinica Pediatrica Universita, Catania, Italy

Am J Dis Child. 1972;124(6):891-892. doi:10.1001/archpedi.1972.02110180093013

Denouement and Discussion 

Oculocerebrorenal Syndrome (Lowe syndrome) 

Manifestations  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.

Genetics  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.

Treatment  The cataracts and glaucoma should be treated