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Progressive multifocal leukoencephalopathy in an adult patient with ICF syndrome

Monica Colucci1, Leonardo Cocito, Elisabetta Capello

  • 1Dipartimento di Neuroscienze, Oftalmologia e Genetica dell'Università di Genova, Via Antonio De Toni 5, I-16132 Genoa, Italy.

Journal of the Neurological Sciences
|December 17, 2003
PubMed

Insights

A rare adult case of progressive multifocal leukoencephalopathy (PML), a JC virus infection, was diagnosed in a patient with immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome. This unique neurological complication highlights a potential link between ICF syndrome and opportunistic infections.

Area of Science:

  • Neuroimmunology
  • Infectious Diseases
  • Genetics

Background:

  • Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder.
  • Neurological complications are not typically associated with ICF syndrome in adults.

Observation:

  • A patient with ICF syndrome presented with cognitive decline, right-sided weakness, and focal seizures.
  • Brain MRI suggested progressive multifocal leukoencephalopathy (PML).

Findings:

  • JC virus DNA was detected in cerebrospinal fluid (CSF) via polymerase chain reaction (PCR), confirming PML.
  • This represents the first reported case of PML as a neurological complication in an adult with ICF syndrome.

Implications:

  • This case suggests a potential increased susceptibility to opportunistic infections, such as PML, in adults with ICF syndrome.
  • Further research is warranted to understand the immunological mechanisms underlying this association.
  • Highlights the importance of considering opportunistic infections in the differential diagnosis of neurological symptoms in ICF syndrome patients.

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