Lowe Syndrome

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Demographics
6 Diagnosis
7 Treatment and Management
8 Prognosis
9 Resources
10 References

[edit] Name of Condition

Lowe syndrome (LS), or oculo-cerebro-renal (OCRL) syndrome.

[edit] Definition

LS is a rare conditions causing phyiscal and mental handicaps, as well as medical problems. The three major systems involved in LS are the brain, eyes, and kidney.

[edit] Description, Signs and Symptoms

Symptoms:

cataracts in both eyes, found at birth or shortly after
glaucoma (in ~50% of cases)
poor muscle tone
delayed motor development
mental retardation, ranging from borderline to severe
seizures (in ~50% of cases)
severe behavior problems (in some cases)
kidney involvement ("Leaky" kidneys, or renal tubular acidosis)
short stature
tendency to develop rickets, bone fractures, scoliosis and joint problems

[edit] Inheritance

LS affects only males and is caused by a single defective gene called OCRL1. Because of this defective gene, an essential enzyme called PIP2-5-phosphatase is not produced. This is the underlying cause of LS.

[edit] Demographics

Estimated prevalence of LS in the general population is approximately 1 in 500,000

[edit] Diagnosis

Enzyme deficiency analysis or DNA analysis can diagnose LS.

[edit] Treatment and Management

There is no cure for LS, but many of the symptoms can be effectively treated through medication, surgery, physical and occupational therapies, and special education.