Diseases

Others

Charge Syndrome

Description: CHARGE SYNDROME is a rare genetic condition that involves multisensory impairment and occurs in 1 out of 12,000 live births. CHARGE is an acronym for a combination of birth “defects”, namely:

  • Coloboma or underdevelopment of the eyes,
  • Heart problems or defects,
  • Atresia of the choanae (abnormal structure of the inner nose and breathing anatomy)
  • Retardation of growth
  • Genital Abnormalities
  • Ear defects and hearing loss.

Treatment:

  1. Coloboma – cataract surgery
  2. Heart problems – PDA surgery
  3. Atreasia Choanae – surgery
  4. Retardation of growth & development – physical, occupational, & speech therapies
  5. Genital abnormalities – maintenance medication and routine urine C/S (culture/sensitivity) or analysis of micro-organisms in the urine
  6. Ear problems – cochlear implant

Wilson Disease

Description: WILSON DISEASE is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. Typically, signs and symptoms of Wilson disease first appear between the ages of 6 and 40, but most often begin during the teenage years.

Liver disease is usually the initial feature of Wilson disease in people between the ages of 6 and 45.

Effect: Signs and symptoms of liver disease include yellowing of the skin or the whites of the eye (jaundice), fatigue, loss of appetite, and abdominal swelling. Psychiatric or nervous system problems commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, trembling, difficulty walking, speech problems, deteriorating school work, depression, anxiety, and mood swings. In many individuals with Wilson disease, copper deposits form a green-to-brownish ring, called the Kayser-Fleischer ring, around the corner (the front surface of the eye). Abnormalities in eye movements, such as the restricted ability to gaze upwards, may also occur.

*Treatment: *

  1. Anti-copper medicine (Cuprimine, or Syprine, or Gatzin) plus a 50mg elemental zinc to be taken for life
Longevity w/out meds: few days
Prevalence: Worldwide – 1:30,000