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[Adult leukoencephalopathy caused by alpha-mannosidosis deficiency]

G Castelnovo1, T Levade, H M F Riise Stensland

  • 1Service de Neurologie, CHU, Nîmes, France. giovanni.castelnovo@chu-nimes.fr

Revue Neurologique
|April 4, 2007
PubMed

Insights

Adult alpha-mannosidosis deficiency, a rare genetic disorder, can cause progressive leukoencephalopathy. This case highlights a 51-year-old man with adult-onset gait issues linked to this condition.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Context:

  • Alpha-mannosidosis deficiency is a rare, autosomal recessive lysosomal storage disease.
  • It results from reduced activity of the alpha-mannosidase enzyme, crucial for glycoprotein degradation.
  • The disease presents with varied phenotypes, including a milder adult-onset form.

Purpose:

  • To report a case of adult leukoencephalopathy associated with alpha-mannosidosis deficiency.
  • To describe the clinical presentation and progression in an adult patient.

Summary:

  • A 51-year-old male presented with gait disturbances starting at age 40.
  • The patient was diagnosed with leukoencephalopathy secondary to alpha-mannosidosis deficiency.
  • This case illustrates the Type 2 phenotype, characterized by slower progression compatible with adult survival.

Impact:

  • Highlights the importance of recognizing adult-onset neurological symptoms in alpha-mannosidosis deficiency.
  • Contributes to understanding the clinical spectrum and long-term outcomes of this rare lysosomal storage disease.
  • Underscores the role of alpha-mannosidase activity in maintaining neurological health throughout adulthood.

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