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Synonyms and keywords: Lowe's syndrome
Oculocerebrorenal syndrome is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets.
- Mutation in the OCRL gene leads to membrane defects which results in inability of proximal tubular cells to reabsorb low molecular weight proteins, bicarbonates and phosphorus.
- There is impaired intra-cellular protein folding and sorting, especially in polarized cells like renal epithelium and optic lens. This explains the pathogenesis of renal dysfunction and cataract.
Differentiating Oculocerebrorenal syndrome from other diseases
Epidemiology and Demographics
- Oculocerebrorenal syndrome is a rare disease with a prevalence of about 1 in 200,000 to 1 in every 500,000 births.
- As the disease follows an X-linked inheritance pattern, almost all affected patients are males. However, a few females with this condition have been reported.
Natural History, Complications, and Prognosis
- Muscle tone improves with age, but never comes back to normal.
- Metabolic acidosis
History and Symptoms
- Mental retardation
- Febrile seizures
- Behavioral disturbances
Appearance of the Patient
- Decreased visual acuity
- Cataract at birth
- Glaucoma with or without buphthalmos
- Keloidss over conjunctiva and cornea without preceding trauma
- Generalized neonatal hypotonia
- Feeding difficulty
- Delayed motor development
- Delayed milestones
- Skin and mucosal cysts
- Delayed dentition
- Dental caries
- Gingival inflammation
- Dental cysts
- Low osmolarity
- Low molecular weight proteiuria: retinol binding protein, β2 microglobulin
- Bicarbonate loss
- Decreased creatinine clearance
- L-carnitine lost in urine
- Raised ESR
- High alkaline phosphatase
- Blood gases:
- Low bicarbonate levels
- Compensatory decrease in PCO2 levels
- Raised serum creatinine levels
- Serum markers: Rise in
- Acid phosphatase
- T4, TSH levels increased
- Measurement of enzyme activity in cultured fibroblasts is the preferred test for establishing diagnosis.
- Corneal keloids:
- Topical steroids, lubricants
- Lamellar keratectomy, corneal transplant
- Strabismus and refraction errors must be corrected.
- Catarcts should be surgically removed, preferably in the first 6 months of life, to prevent development of amblyopia. Aphakic correction must follow the surgery.
- Must be monitored to look for development of renal failure, tubular wasting
- Blood pH and electrolytes should be followed up.
- Behavioral modification for maladaptive behavioral patterns