Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with permanent finger contractures or fused fingers, while in type 4, the person also has Hirschsprungs disease. There also exist at least two types (2E and PCWH) that can result in central nervous system (CNS) symptoms such as developmental delay and muscle tone abnormalities.The syndrome is caused by mutations in any of several genes that affect the division and migration of neural crest cells during embryonic development (though some of the genes involved also affect the neural tube). Neural crest cells are stem cells left over after the closing of the neural tube that go on to form diverse non-CNS cells in different parts of the body, including melanocytes, various bones and cartilage of the face and inner ear and the peripheral nerves of the intestines. Type 1 is caused by a mutation in the PAX3 gene, while the gene that most often causes type 2 when mutated is MITF.
Urethral syndrome is defined as symptoms suggestive of a lower urinary tract infection but in the absence of significant bacteriuria with a conventional pathogen. It is a diagnosis of exclusion in patients with dysuria and frequency without demonstrable infection. In women, vaginitis should also be ruled out. Causes
Signs indicative of urethral syndrome include a history of chronic recurrent urinary tract infections (UTI) in the absence of both conventional bacterial growth and pyuria (more than 5 white blood cells per high power field). Episodes are often related to sexual intercourse. Some physicians believe that urethral syndrome may be due to a low grade infection of the Skenes glands on the sides and bottom of the urethra. The Skenes glands are embryologically related to the prostate gland in the male, thus urethral syndrome may share a comparable cause with chronic prostatitis.Possible non-infective causes include hormonal imbalance, trauma, allergies, anatomical features such as diverticula, and post-surgical scarring and adhesions. Treatment
In a small minority of cases of the urethral syndrome, treatment with antibiotics is effective, which indicates that in some cases it may be caused by a bacterial infection which does not show up in either urinalysis or urine culture.