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Non-progressive leukoencephalopathy with bilateral temporal cysts.

A L Gomes1, J P Vieira, J Saldanha

  • 1Department of Pediatrics, Hospital de Santa Maria, Lisboa, Portugal.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|October 9, 2001
PubMed
Summary

This study describes two unusual cases of leukoencephalopathy with temporal cysts, presenting with non-progressive neurological issues. Differential diagnosis considered cytomegalovirus infection and other white matter disorders in childhood.

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Area of Science:

  • Neurology
  • Radiology
  • Genetics

Background:

  • Leukoencephalopathies are a group of white matter disorders that affect the brain's white matter.
  • These disorders can be caused by genetic defects, metabolic abnormalities, or infections.
  • Early diagnosis and intervention are crucial for managing leukoencephalopathies and improving patient outcomes.

Observation:

  • Two pediatric patients presented with a peculiar leukoencephalopathy characterized by temporal cysts.
  • Clinical manifestations included non-progressive neurological deficits, mental retardation, microcephaly, and sensorineural deafness.
  • Magnetic resonance imaging (MRI) revealed distinct white matter abnormalities.

Findings:

  • Metabolic disorders and recently described leukoencephalopathies, such as Van Der Knaap disease and 'vanishing white matter disease,' were excluded based on comprehensive clinical, biological, and imaging data.

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  • Cytomegalovirus (CMV) infection was considered a potential cause in one patient, though MRI findings were not entirely consistent with previously reported cases.
  • The patients' presentation bore a strong resemblance to cases reported by Deonna et al. and Olivier et al.

    • Implications:

    • These cases highlight the importance of considering a broad differential diagnosis for leukoencephalopathies in children.
    • The findings contribute to the understanding of rare white matter disorders and their varied presentations.
    • Further research is needed to elucidate the specific etiology and optimal management strategies for this peculiar leukoencephalopathy.