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| printer friendly | ADRENOLEUKODYSTROPHY | ||||||||||||||||||||
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Adrenoleukodystrophy: Schilder's disease; Sudanophilic Leukodystrophy Adrenoleukodystrophy (ALD) is a life threatening genetic disorder which only occurs in males and affects the adrenal gland and white matter of the nervous system. It is caused by the accumulation of long chain fatty acids in the cells and tissues of an affected child. ALD was first recognised in 1923 and since then several hundred cases have been reported from many countries. There are several forms of ALD. In the severe (childhood cerebral) form, boys usually develop normally until they reach between the ages of four to ten years of age when behavioural changes, such as loss of memory and emotional instability, may be experienced in varying degrees. There may also be difficulty with vision, hearing and motor function. Adrenal function may also be impaired (Addison disease) leading to nausea, vomiting, and changes in skin colour. Addison disease is commonly associated with gonadotrophin deficiency and may present with failure to enter puberty. There is continuous progressive deterioration of the nervous system. The rate of deterioration varies in each individual child. A milder form of this illness, called adrenomyeloneuropathy (AMN) also occurs in males during late adolescence, or early adult life. It is usually characterised by adrenal impairment, immature sex organ development and varying degrees of difficulty with walking and motor function. Symptoms of ALD are occasionally seen in female carriers. The vast majority have mild symptoms. Very rarely cerebral ALD has been described. The only form of treatment that has been shown to be effective in early cerebral ALD is bone marrow transplantation, but it is ineffective in advanced disease. Lorenzo's oil has been widely used but its effectiveness remains unknown. Inheritance patterns Prenatal diagnosis Medical text written May 1994 by Dr R Schwarz, Consultant Paediatrician, Central Middlesex Hospital, London UK. Last updated April 2004 by Dr A Velodi, Consultant Paediatrician and Honorary Senior Lecturer, Metabolic Unit, Great Ormond Street Hospital, London, UK. Further Online Resources
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