Question:
I just got a call from my sister and she was crying so hard I could notunderstand her but she said her 8 year old grandson has "adronleukodystrophy"all one word she said I have searched everwhere and can't find anything on it.She spelled it two times and say's it is one word and that it is fatal hasanyone heard of this or know anyone who has itPlease send out prayers he is such a sweet kid but very small now they havefound out why he has never grown

Answer: AdrenoleukodystrophyCauses and Risks:Adrenoleukodystrophy is transmitted as an X-linked trait. Its incidence isthought to be slightly greater than 1 out of 100,000 people. The metabolicdefect is the accumulation of long chain fatty acids in the nervous system,adrenal gland, and testes , where the accumulated material disrupts normalactivity. There are several different forms of the disease. The most severe,the childhood cerebral form, appears in mid-childhood, and the other formsappear during adolescence. About one-third of affected people developneurological symptoms while all develop abnormal adrenal function.

In the childhood form, early symptoms include hyperactivity , difficulty atschool, difficulty understanding spoken material, deterioration of handwriting,crossed eyes ( strabismus ), and possibly seizures . As the disease progresses,further signs of damage to the white matter of the brain appear and includechanges in muscle tone, stiffness and contracture deformities , swallowingdifficulties and coma .

The other major component of the childhood form and all other forms ofadrenoleukodystrophy is the development of impaired adrenal function (similarto Addison disease). This is a very significant development and one that can beadequately treated with corticosteroids.

Prevention:Genetic counseling is recommended for prospective parents with a family historyof adrenoleukodystrophy. The carrier state in females can be diagnosed most ofthe time by laboratory studies. Intrauterine diagnosis of adrenoleukodystrophyis available and done by evaluation of cells from chorionic villus sampling orfrom amniotic cells ( amniocentesis ).

Symptoms:

hyperactivitydecreasing school performancedecreased understanding of verbal communication ( aphasia )crossed eyesswallowing difficultieschanges in muscle tone, especially muscle spasms and spasticityProgressive nervous system deterioration