- 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.

-Investigation:-

• Ph (decrease).
• Ca++ (Normal).
• Alkaline phosphatase (increased).
• increase urinary phosphate,bicarbonate,glucose, amino acids and may be Potassium.

-Treatment:-

• 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.
  

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