Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain

Summary

  • 8mo M
  • PMHx
    • developmental delay
    • diffuse hypotonia
    • hypoplastice Lt heart synd
    • undescended testes
    • neonatal thrombocytopnenia
    • unusual facies
  • Ex
    • del(11q23-11q24)
  • Dx
    • Jacobsen syndrome (JS)

Original

An 8-month-old boy presented with developmental delay, diffuse hypotonia, hypoplastic left heart syndrome, undescended testes, neonatal thrombocytopenia, and unusual facies. Chromosome microarray showed an 11q23-11q24 deletion, consistent with Jacobsen syndrome (JS).

Initial head MRI at 18 months showed severe diffuse hypomyelination of cerebral white matter believed to be consistent with leukodystrophy (figure 1). Repeat MRI at 3 years of age showed less extensive hypomyelination (figure 2). The child, while still delayed, had made some developmental progression.

Figure 1

Fig.1 MRI brain at 18 months of age
Axial fluid-attenuated inversion recovery MRI shows white matter hypomyelination of cerebral as well as deep white matter consistent with leukodystrophy.

Figure.1

Figure 2

Fig.2 MRI brain at 3 years of age
Axial fluid-attenuated inversion recovery MRI shows improved degree of white matter myelination.

Figure.2

While delayed myelination has been reported, there are few reports of neuroimages. Awareness of the MRI presentation of JS is crucial to prevent unnecessary evaluation in this condition. 1,2