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Colegio de Medicina Interna de México.

2024, Number 9

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Med Int Mex 2024; 40 (9)

Adult metachromatic leukodystrophy

Mendoza TJC, Aguilar GG

Language: Spanish
References: 32
Page: 631-637
PDF size: 361.65 Kb.


ABSTRACT

Background: Metachromatic leukodystrophy is an autosomal recessive lysosomal disease caused by deficient activity of the enzyme arylsulfatase A. It is classified as a rare neurodegenerative disease with an estimated worldwide prevalence of 1.4 to 1.8 cases per 100,000 newborns.
Clinic case: A 31-year-old female patient with a history of epilepsy attended to consultation for presenting behavioral changes in her work environment for 4 years with aggressive episodes alternated with irritability and emotional lability. Episodically she presented memory loss and difficulty for walking associated with disabilities to go up and down stairs. The genetic study identified the c.542T>G mutation in a homozygous state for the ARSA gene, confirming the diagnosis of metachromatic leukodystrophy.
Conclusions: Metachromatic leukodystrophy in adults has a low frequency; however, it is a misdiagnosed entity in adults in which a better understanding of the disease, its clinical picture and its long-term repercussions is necessary.


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