Preoperative and perioperative management of a patient with Lowe syndrome diagnosed to have Fanconi's syndrome

Lowe's syndrome with Fanconi syndrome for ocular surgery: perioperative anesthetic considerations

“…It mostly affects men with prevalence rate of 1/500,000 population [8]. The classical triad includes congenital cataracts, neonatal or infantile hypotonia with subsequent mental impairment, and renal tubular dysfunction progressing to chronic renal failure [2,4]. Other features include excessive mobility of the joints and abnormally soft bones.…”

“…These patients usually have a large forehead, sunken eyes, retrognathia, poorly shaped ears, cognitive, behavioral, and neuromuscular abnormalities [4,15]. Careful clinical and laboratory evaluation is essential.…”

“…Removal of cataracts as early as possible, even within the first weeks of life, is indicated to provide optimal visual stimulation to the developing brain [4,16].…”

“…Lowe's syndrome is a rare inherited metabolic disorder characterized by mental retardation, kidney malfunction, and abnormalities of the eyes and bones [1,2]. Renal involvement of oculocerebrorenal syndrome of Lowe comprises tubular dysfunction characterized by proteinuria and generalized aminoaciduria progressing to the renal Fanconi's syndrome [3,4]. Bicarbonate wasting and hyperkaluria occurs due to proximal tubule transport defect, with later glomerular disease [5][6][7].…”

Anesthetic challenges in a child with Lowe's and Fanconi syndrome

“…Oculocerebrorenal syndrome of Lowe (OCRL) is a rare (1:500,000), X-linked recessive disorder with multisystem involvement. [ 1 ] It is characterized by a classic triad of congenital cataract, neonatal or infantile hypotonia, and renal tubular dysfunction. [ 1 ] This syndrome is complicated by association with Fanconi's syndrome.…”