The metachromatic leucodystrophie is most frequent of the Leucodystrophie S caused by the change of the Gène coding the Arylsulfatase has involving an incapacity with cataboliser the cérébroside sulfate. The cérébroside sulfate is present in all the organization but especially on the level of the central Nervous system, the Rein S and the Gonade S.

Three standard pennies of leucodystrophie metachromatic exist: The late infantile form 60%, the youthful form 20 to 30% and the adult form 10 to 20%. The age of occurred of the disease is usually the same one in a family reached. All the forms of this disease are accompanied by severe central nervous system disorders and losses of the intellectual functions. The duration of the disease is between 3 and 10 years in the late infantile form and sometimes more than 20 years in the other forms. The death is usually with generally pulmonary infections.

The late infantile form begins between one year or two from life. The most typical signs are frequent falls, the appearance of an awkwardness in the gestures, an ambulation on the toes and a disorganization of the language. The first signs are neurological with hypotonia and muscular weakness. The latest signs are an impossibility of being held upright, disorders of the word, a degradation of the intellectual functions a muscular Hypertonie, pains of the arms and legs, focal or generalized epileptic fits, sight trouble and a reduction of hearing. At the final stage of the disease, the child is grabataire, has a hypertonicity generalized, it blind and is nourished by gastric probe. In the absence of treatment the lifespan is three years but can go up to ten years with a correct assumption of responsibility.

The youthful form starts between 4 years and adolescence. The first signs are a reduction in the school results and behavioral problems: awkwardness, disturbs balance, inarticulate language, incontinence and odd behavior. The progression is identical to the late infantile form but the lifespan is included/understood between 10 years and more than 20 years after the diagnosis.

The form of the adult starts after adolescence and sometimes around 50 years. The first signs are a reduction in resulted school or from the professional performances, of the abuses alcohol or drug, of the disorders of mood with unsuited management of the money. Sometimes the neurological signs are in the foreground with muscular weakness, of the disorders of the coordination of the movements, the appearance of a muscular hypertonicity, an incontinence or epileptic fit. A peripheral neuropathy is frequent. The evolution of the disease is variable with periods of stability followed by periods of aggravation. It can last from 20 to 30 years. The final signs include/understand an indifference with important intellectual deterioration, a urinary and fecal incontinence, a quadriparesy, a generalized hypertonicity and a total loss of the vision.

Extremely rare cases are in connection with an attack of the activator necessary to the action of the metabolic action of arylsulfatase A.

The metachromatic leucodystrophie is suspectée at individuals presenting of the neurological signs of deteriorations with signs of leucodystrophie to the imagery by magnetic resonance. The proportioning of the enzymatic activity of the arylsulfatase has in the leucocytes lower than 10% directs towards the origin of the leucodystrophie. The existence of pseudo deficit of arylsulfatase has with an enzymatic activity ranging between 5% and 20% make essential the practice of examinations complementary like: research of the causal change, proportioning of the urinary sulfatides or histological proof of deposit of lipid metachromatic in nervous fabric.

Assumption of responsibility

In the late infantile form, the children keep their conscience when it lost any motricity, the word and even the sight. Although the majority of people probably think the opposite because of a bad assumption of responsibility or that it is reassuring for certain thinking that they cannot realize of their state. It is necessary that the entourage speaks to them and that the doctors are conscious that these patients include/understand them.

If they are not stimulated, the children sink in a state of prostration. A catch in truck load: orthoepy, kinesitherapy, psycomotricity, school integration, make it possible to communicate a long time with the child.

Sources

• Arvan L Fluharty, Arylsulfatase has Deficiency In GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2006 * Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 250100 * Metachromatic Leucodystrophie on Orphanet

External bonds

• Leucodystrophie Métachromatique Association To overcome the Diseases Lysosomales

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