[MIM 309 000]

(Oculo-cerebro-renal syndrome, Lowe-Terrey-MacLachlan syndrome)

Rare. X-linked transmission of a mutation of the OCRL1 gene (Xq24-26). Deficiency in phosphatidylinositol 4, 5-bisphosphate 5-phosphatase. Association of facial dysmorphism (sunken eyes, prominent forehead, pale skin, sometimes retrognathism), ocular abnormalities (congenital cataract, glaucoma, sometimes megacornea), a renal tubulopathy causing hypercalciuria (with risk of nephrocalcinosis and lithiasis) and rickets, axial hypotonia and moderate mental retardation.

Anesthetic implications:

Eye protection. Treatment of glaucoma. Renal dysfunction: check electrolytes and acid-base status. Risk of refractory hypotension under G.A. in case of treatment by risperadone

References : 

• Watoh Y, Kawamura K, Sato T. 
  A series of anesthesia for a child with Lowe's syndrome (en japonais). 
  Masui 1992; 41:1004-7
• Saricaoglu F, Demirtas F, Aypar U. 
  Preoperative and perioperative management of a patient with Lowe syndrome diagnosed to have Fanconi's syndrome.
  Pediatr Anesth 2004; 14: 530-2.

Updated: February 2021