Han Ku Moon

Diffusion tensor tractography can predict hemiparesis in infants with high risk factors

Diffusion tensor tractography (DTT) is known to be useful in detecting white matter lesions. In the current study, we report on two hemiparetic patients with risk factors who showed abnormalities of the corticospinal tract (CST) on diffusion tensor tractography (DTT) prior to the manifestation of hemiparesis. Two hemiparetic patients with risk factors (preterm, low birth weight) and six age-matched normal control subjects were enrolled to this study. Diffusion tensor imaging (DTI) was performed at the age of 43 weeks (patient 1) and 33 weeks (patient 2) using 1.5-T with a Synergy-L Sensitivity Encoding (SENSE) head coil. We measured fractional anisotropy (FA), apparent diffusion coefficients (ADCs), and fiber counts of the CST. There were no definite asymmetric findings on physical examination and conventional brain MRI. By contrast, DTT showed a unilateral CST disruption at the periventricular white matter, low FA values, and low CST fiber counts compared with those of the unaffected CST and controls. These patients were diagnosed with hemiparetic cerebral palsy when we re-evaluated these patients at the age of 6 years (patient 1) and 3 years of age (patient 2), respectively. In these two patients, DTT revealed abnormalities of the CST prior to the manifestation of hemiparesis. Therefore, it seems that DTT would be a useful modality in detecting CST abnormalities in advance of clinical manifestation in infants with high risk factors.

Diffusion tensor magnetic resonance imaging of microstructural abnormalities in children with brain injury

We present two pediatric cases demonstrating that diffusion tensor imaging is more efficient at revealing microstructural abnormalities of the brain than conventional magnetic resonance imaging because it enables measurements of the directionality and integrity of white matter fiber tracts. One patient suffered from left hemiparesis, and the other had right hemiparesis. However, whereas conventional magnetic resonance imaging showed only the findings of traumatic contusional hemorrhages in the left temporal and parietal lobes of the first patient and focal encephalomalacia in the left anterior thalamus of the second patient, diffusion tensor imaging successfully disclosed microstructural abnormalities in the right cerebral peduncle of the midbrain of the first patient and in the posterior limb of the left internal capsule of the second. Theses two cases demonstrate that diffusion tensor imaging is more capable than magnetic resonance imaging at detecting the microstructural pathologic lesions that are responsible for clinical motor weakness, especially when conventional magnetic resonance imaging has failed to detect subtle structural abnormalities.

A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked dysmyelinating disorder resulting from mutation of the proteolipid protein gene (PLP1). Clinical features of PMD include progressive psychomotor developmental delay, nystagmus, spastic quadriplegia, dystonia, and cerebellar ataxia. PMD is clinically classified into three subtypes according to the severity of the disease: connatal, transitional, and classic forms. Patients with PMD have been identified with duplication, point mutations, and deletion of PLP1. In addition, spastic paraplegia 2 (SPG2) is allelic to PMD and typically caused by missense mutations in the second extracellular domain of PLP1 or in the PLP1-specific region that is spliced out during formation of the DM20 isoform. The authors describe a Korean boy diagnosed with SPG2 caused by a mutation that results in a Pro215Leu substitution in the second extracellular domain. Analysis of phenotypes resulting from mutations affecting PLP1 has been valuable in identifying functional domains of this still incompletely understood major myelin protein. Null mutations and mutations affecting the PLP1-specific domain cause peripheral neuropathy. The PLP1-specific domain also is important in the long-term maintenance of axonal integrity. This patients phenotype was relatively mild, in contrast with other mutations at position 215 of PLP1 that cause severe PMD. One of these severe mutations is also a missense mutation substituting an aliphatic residue, alanine, for proline. The distinct severity difference between the Pro215Leu and Pro215Ala substitutions suggests that this region of the protein is very sensitive to subtle structural changes and likely plays a critical role in PLP1 function.