Lowe Syndrome

Genetically transmitted polymalformative syndrome characterized by the association of ocular problems with renal dysfunction and mental retardation.

Lowe Oculocerebrorenal Syndrome; Oculocerebrorenal Syndrome; Lowe-Terrey-MacLachlan Syndrome; OCRL I.

X-linked disorder (Xq26.1). However, a few cases have been reported in females.

Lack of the enzyme phosphatidylinositol 4,5-biphosphate 5-phosphatase, which is located in the Golgi apparatus and controls the intracellular level of phosphatidylinositol 4,5-biphosphate. This enzyme deficiency may impair normal intracellular protein sorting (including second messengers), especially within polarized cells, and could be responsible for the observed ocular, renal, and cerebral abnormalities.

Cataracts associated with renal tubular acidosis. In the blood, hypophosphatemia and elevated α2-globulin help confirm the diagnosis. Creatine kinase is sometimes increased. Deficiency of Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase.

Infancy: Neonatal cataracts (100%), glaucoma, megacornea, enophthalmos and nystagmus caused by poor vision. The problems caused by renal tubular acidosis appear during the first year. Approximately 50% of patients experience seizures.

Childhood: Renal tubular acidosis, aminoaciduria, proteinuria (Fanconi syndrome); failure to thrive; vitamin D-resistant rickets; corneal scarring.

Late Childhood: Progressive renal failure.

Patients have typical facies characterized by large forehead, sunken eyes, large, poorly shaped ears, and sometimes retrognathism. They have mild-to-moderate mental retardation with major hypotonia and behavioral problems (stereotypical behavior); cryptorchidism is common.

Check serum electrolytes, acid-base status, calcium and phosphate levels, and renal function. Some patients receive chronic oral bicarbonate therapy; treatment for glaucoma usually involves eye drops of a beta-blocking agent. Check intraocular pressure and presence of retrognathism.

Retrognathism may make direct laryngoscopy and tracheal intubation difficult. Careful titration of perioperative IV fluids to prevent hyperhydratation or dehydration. Ophthalmic beta blockade may lead to some systemic effects following local resorption.

Related to the medical treatment of glaucoma (topical beta blockers) and to the extent of renal insufficiency or failure. Avoid succinylcholine in the presence of glaucoma.

Congenital Cataracts and Fanconi Syndrome: Characterized by alteration of renal tubular function resulting in severe rickets, hypokalemia, acidosis, and severe growth failure; several diseases (usually autosomal recessive) are associated with Fanconi syndrome, including cystinosis, glycogenosis, galactosemia, and tyrosinemia.