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NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy

Paulo Victor Sgobbi de Souza1, Thiago Bortholin1, Stênio Burlin1

  • 1Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.

Journal of Pediatric Genetics
|February 15, 2018
PubMed

Insights

Genetic leukoencephalopathies are rare brain disorders. This study details a case of early-onset cystic leukoencephalopathy in an infant diagnosed with multiple mitochondrial dysfunction syndrome type 1 due to NFU1 gene mutations.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Genetic leukoencephalopathies are inherited disorders affecting brain white matter.
  • Cystic degeneration is a known feature in some leukoencephalopathies.

Observation:

  • A 6-month-old boy presented with rapid developmental regression, seizures, spastic tetraparesis, and lethargy.
  • Neuroimaging revealed diffuse, symmetric cavitating cystic leukoencephalopathy.

Findings:

  • Whole-exome sequencing identified compound heterozygous mutations in the NFU1 gene.
  • This confirmed a diagnosis of multiple mitochondrial dysfunction syndrome type 1 (MMDS1).

Implications:

  • This case highlights a rare, early-onset cystic leukoencephalopathy presentation of MMDS1.
  • It expands the understanding of genetic leukoencephalopathies and NFU1-related disorders.
  • Highlights the importance of genetic testing for diagnosing complex neurological conditions in infants.

Keywords:
leukodystrophy mitochondrial diseaseleukoencephalopathyneuroimaging

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