Magnetic resonance imaging traits may help to differentiate Pelizaeus-Merzbacher and Pelizaeus-Merzbacher-like disease

Características em ressonância magnética podem auxiliar a diferenciar doença de Pelizaeus-Merzbacher e Pelizaeus-Merzbacher-like

A six-year-old boy with nystagmus and developmental delay from six months of age, was born from healthy first-degree cousins. On neurological examination, he presented with spontaneous and multidirectional nystagmus, gait and upper limb ataxia, and lower limb hyperreflexia/spasticity. Brain magnetic resonance disclosed a hypomyelinating pattern (Figure). Pelizaeus-Merzbacher disease was considered, although there was unusual pontine dysmyelination. Pelizaeus-Merzbacher disease was excluded as the PLP1 gene sequencing was negative. Pelizaeus-Merzbacher-like disease was considered, and a homozygous mutation in GJC2 gene (c.217C > A p.[P73T]) was found. Pontine dysmyelination is not usually described in Pelizaeus-Merzbacher disease and may be a clue to Pelizaeus-Merzbacher-like disease^1,2.

Figure
Magnetic resonance features of Pelizaeus-Merzbacher-like disease: (A) Diffuse T2 hyperintensity (hollow arrow) and (B) T1 slight hypointensity of cerebral white matter (arrowhead), characterizing hypomyelination; and (C) pontine T2 hyperintensity (white arrow), highly compatible with Pelizaeus-Merzbacher-like disease².

References

• ¹
  Akinaga K, Lee TY, Montenegro MA. Pelizaeus Merzbacher disease: dysmyelination versus demyelination. Arq Neuropsiquiatr. 2016 Jan;74(1):81. https://doi.org/10.1590/0004-282X20150170
  » https://doi.org/10.1590/0004-282X20150170
• ²
  Steenweg ME, Vanderver A, Blaser S, Bizzi A, Koning TJ, Mancini GM, et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 2010 Oct;133(10):2971-82. https://doi.org/10.1093/brain/awq257
  » https://doi.org/10.1093/brain/awq257

Publication Dates

• Publication in this collection
  05 Sept 2019
• Date of issue
  Aug 2019

History

• Received
  23 Jan 2019
• Reviewed
  19 Feb 2019
• Accepted
  10 Mar 2019