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Hypoyelination in I-cell disease; MRI, MR spectroscopy and neuropathological correlation
Jun-Ichi Takanashi1, Masaharu Hayashi, Shota Yuasa
1Department of Pediatrics, Kameda Medical Center, Kamogawa, Japan. jtaka44@hotmail.co.jp
Abstract:
MRI of a female patient with genetically diagnosed I-cell disease at 2weeks, 4 and 8months revealed delayed myelination or hypomyelination with decreased choline on MR spectroscopy. Brain autopsy was performed 2h after death at 14-month-old. Immunoreactivities for myelin basic protein and proteolipid proteins, markers for mature myelin sheath, were reduced in the myelinated fibers and oligodendrocytes in the white matter, indicating the hypomyelination in the central nervous system. I-Cell disease should be added to the list of delayed or hypomyelination conditions, and this neuroimaging finding could be a key for differentiating I-cell disease from the clinically similar disorder of Hurler syndrome characterized by perivascular lacunation.
Insights
I-cell disease causes delayed myelination or hypomyelination in infants, detectable via MRI and MR spectroscopy. Autopsy confirmed reduced myelin markers, supporting its inclusion in hypomyelination disorders.
Area of Science:
- Neuroimaging
- Neuropathology
- Metabolic Disorders
Background:
- I-cell disease is a rare lysosomal storage disorder.
- It presents with severe neurological impairment.
- Distinguishing it from similar genetic disorders can be challenging.
Observation:
- Serial MRI and MR spectroscopy in an infant with I-cell disease showed delayed myelination and reduced choline.
- Brain autopsy revealed reduced myelin basic protein and proteolipid proteins in white matter oligodendrocytes.
Findings:
- The study identified hypomyelination as a key neuropathological feature of I-cell disease.
- Reduced myelin markers confirm impaired myelin sheath formation in the central nervous system.
Implications:
- I-cell disease should be recognized as a cause of delayed or hypomyelination.
- Neuroimaging findings may help differentiate I-cell disease from Hurler syndrome.
