Wednesday, December 16, 2009

- Oculo-cerebro-renal Syndrome.

Oculo-cerebro-renal Syndrome

-Def:- It is a X-linked recessive disorder of eye,cerebral cortex and renal tubules .

-Synonyms (1):-
  • Lowe's oculocerebrorenal disease/syndrome.
  • Lowe's disease/syndrome.
  • Oculocerebrorenal dystrophy.
- The condition became known as "Lowe syndrome" named after Dr. Charles Lowe, the senior member of the group that described it.

-Clinical picture:-
  • cataracts.
  • Congenital glaucoma (Buphthalmos) in about 50% of cases.
  • Mental retardation.
  • Hypotonia.
  • Rickets(in children).
  • Osteomalacia (in adults).
  • Metabolic acidosis.
  • Vomiting ( due to acidosis).
  • Polyuria and polydepsia.
  • Episodes of fever and dehydration.
  • Muscle weakness and constipation.
  • Growth retardation.
  • Ph (decrease).
  • Ca++ (Normal).
  • Alkaline phosphatase (increased).
  • increase urinary phosphate,bicarbonate,glucose, amino acids and may be Potassium.
  • Treatment of associated signs,symptoms.
  • Oral phosphate 1-3 gm/day divided into 5 doses.
  • Vitamin D: 2000 IU/day.
  • Sodium bicarbonate tablets or Sodium citrate and Potassium citrate syrup for metabolic acidosis.
  • Potassium chloride 2-3 mEq/kg/day for cases of hypokalemia.

Return to list of medical syndromes here

(1)Mario Loi Division of Paediatric Neurology, G. Brotzu Hospital, Cagliari, Italy PMC1526415

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