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
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.
Charnas LR, Bernardini I, Rader D, et al: Clinical and laboratory
findings in the oculocerebrorenal syndrome of Lowe, with special reference
to growth and renal failure. N Engl J Med
Saricaoglu F, Demirtas F, Aypar U: Preoperative and perioperative management of a patient with Lowe syndrome diagnosed to have Fanconi's syndrome. Paediatr Anaesth
Suchy SF, Olivos-Glander IM, Nussabaum RL: Lowe syndrome, a deficiency of
phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus.
Hum Mol Genet