Adult-type metachromatic leukodystrophy mimicking multiple sclerosis.

نویسندگان

  • Saber Chebel
  • Ilhem Barboura
  • Amel Boughammoura-Bouatay
  • Manel Ammar
  • Salima Ferchichi
  • Abdelhedi Miled
  • Mahbouba Frih-Ayed
چکیده

recessive lysosomal storage disease caused by a deficiency of arylsulphatase A (ASA). It is characterized by accumulation of sulphatide in the white matter in the central nervous system and peripheral nerves1. The disease is divided in four subtypes, according to onset, severity and progression of the disease: late infantile (before age 4), early juvenile (age 4 to 6), late juvenile (age 6 to 16) and adult-type (after age 16)1. The disorder has different clinical presentations depending on the age at onset. Most patients with adult-type MLD present psychiatric symptoms and a schizophrenia-like condition2,3. More recent reports indicate that dementia together with pure neurological symptoms are also prominent3-5. Before examination by magnetic resonance imaging (MRI) or ASA activity dosage, the patients are often misdiagnosed as having schizophrenia, affective disorder, or personality disorder. We report a patient with an adult-type MLD, in which the clinical course and neuroimaging results could suggest the diagnosis of multiple sclerosis (MS).

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منابع مشابه

The Diagnosis of Metachromatic Leucodystrophy during Life.

Metachromatic leucodystrophy is deserving an increasing interest from neurologists and pediatricians, mainly because it is the only disease in the whole group of diffuse cerebral sclerosis amenable to an intra vitam diagnosis by means of bloodless procedures. The merit for this belongs to Austin 1 , who introduced a simple test to demonstrate metachromatic bodies in the urine sediment. Although...

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Infantile Metachromatic Leucodystrophy.

Metachromatic leucodystrophy is an uncommon type of diffuse cerebral sclerosis. This condition is found at various ages, but it is convenient to classify cases into congenital, infantile, juvenile, and adult varieties. The infantile form, which presents a fairly constant clinical and pathological pattern, was first described by Greenfield (1933) who recorded two cases, and four further examples...

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Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.

OBJECTIVE To determine the clinical symptoms in adult metachromatic leukodystrophy and in adult pseudodeficiency for arylsulfatase A. DESIGN Case series. SETTING University hospital. PATIENTS Twenty-five adult patients with very low arylsulfatase A activity. RESULTS In 13 patients, a diagnosis of adult metachromatic leukodystrophy was made. The main symptoms were dementia, behavioral ab...

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عنوان ژورنال:
  • The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

دوره 36 4  شماره 

صفحات  -

تاریخ انتشار 2009