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Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers

Davide Tonduti1, Anna Pichiecchio, Nicole I Wolf

  • 1Department of Child Neurology and Psychiatry Unit, IRCCS, C. Mondino National Institute of Neurology, Foundation, Pavia, Italy. davidetondu@hotmail.com

Neuropediatrics
|January 26, 2013
PubMed

Insights

Hypomyelinating leukoencephalopathy affecting early myelinating structures (HEMS) may progress over time. Regular MRI scans are recommended for HEMS patients to monitor potential abnormalities.

Area of Science:

  • Neurology
  • Neuroimaging
  • Genetics

Background:

  • A novel leukoencephalopathy, hypomyelinating leukoencephalopathy affecting early myelinating structures (HEMS), has been recently identified.
  • HEMS is characterized by early-onset nystagmus, progressive cerebellar signs, and mild spasticity.

Observation:

  • Two patients with HEMS were studied, one with the longest follow-up to date.
  • Clinical and neuroradiologic worsening was observed in one patient after age 6, following a period of stability.
  • Advanced magnetic resonance imaging (MRI) at age 11 revealed significant supratentorial white matter involvement.

Findings:

  • Spectroscopy results, new for this disorder, indicate a progressive disease course.
  • The neuroimaging findings suggest a potential for worsening abnormalities in HEMS patients over time.

Implications:

  • HEMS patients may benefit from periodic MRI evaluations to detect disease progression.
  • Understanding the progressive nature of HEMS is crucial for patient management and prognosis.
  • Further research into the long-term course and underlying mechanisms of HEMS is warranted.

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