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Nervous system involvement in Farber disease.

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Hematopoietic stem cell transplantation (HSCT) may improve Farber disease symptoms but cannot halt progressive neurological decline. This case highlights ongoing neurodegeneration despite successful transplantation.

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Area of Science:

  • Neurology
  • Hematology
  • Genetics

Background:

  • Farber disease is a rare lysosomal storage disorder.
  • Hematopoietic stem cell transplantation (HSCT) is a potential treatment for Farber disease.

Observation:

  • A 30-month-old boy with Farber disease developed nystagmus 12 months post-HSCT.
  • Progressive neurological symptoms including gait ataxia and motor neuron disease were observed.

Findings:

  • Brain MRI revealed enlarged pericerebellar sulci and 4th ventricle.
  • Electromyography (EMG) indicated denervation in the tongue and upper limbs.

Implications:

  • HSCT may not prevent neurological deterioration in Farber disease.
  • Long-term neurological monitoring is crucial after HSCT for lysosomal storage disorders.