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Refsum Disease Presenting with a Late-Onset Leukodystrophy.

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Adult Refsum disease, a rare metabolic disorder, typically presents in youth. This case highlights a unique late-onset form with severe cognitive decline and brain abnormalities, challenging typical presentations.

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Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Background:

  • Adult Refsum disease is an autosomal recessive peroxisomal disorder involving phytanic acid accumulation.
  • Classic symptoms include retinitis pigmentosa, anosmia, ataxia, and polyneuropathy, usually appearing before age 20.
  • The disease progression typically involves neurological and sensory deficits over years.

Purpose of the Study:

  • To report a rare case of very late-onset Adult Refsum disease.
  • To describe an unusual phenotype characterized by cognitive decline and leukoencephalopathy without peripheral neuropathy.
  • To investigate the genetic basis and biochemical findings in this atypical presentation.

Main Methods:

  • Clinical case presentation and neurological examination.
  • Brain Magnetic Resonance Imaging (MRI) and MR spectroscopy.
  • Biochemical analysis of plasma phytanic acid, pristanic acid, and very long chain fatty acids.
  • Genetic analysis to identify mutations in the PHYH gene.

Main Results:

  • The patient presented with severe cognitive decline and extensive leukoencephalopathy on MRI, with relative sparing of U fibers.
  • MR spectroscopy revealed an elevated choline/NAA ratio, indicative of metabolic changes.
  • Elevated plasma phytanic acid confirmed the diagnosis, while other related fatty acids were normal.
  • A novel frameshift mutation in the PHYH gene was identified, with the patient being homozygous.

Conclusions:

  • This case demonstrates a highly unusual presentation of Adult Refsum disease with predominant central nervous system involvement and cognitive decline.
  • The findings suggest that novel mutations in PHYH may lead to atypical phenotypes.
  • Further research is needed to understand the genotype-phenotype correlation in Adult Refsum disease, particularly for novel mutations.