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Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids.

Meyer-Ohlendorf M, Braczynski A, Al-Qaisi O, Gessler F, Biskup S, Weise L, Steinbach JP, Wagner M, Mittelbronn M, Bähr O - BMC Neurol (2015)

Bottom Line: After a comprehensive diagnostic workup and exclusion of other leukoencephalopathies, stereotactic biopsy and genetic testing confirmed the diagnosis.This might help to identify more patients with this underdiagnosed disease.Moreover, the rapid clinical course in our patient raises the question whether the relatively pronounced areas of restricted diffusion are indicative of a more acute progression of the disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Goethe University Hospital, Frankfurt, Germany. Marie.Meyer-Ohlendorf@kgu.de.

ABSTRACT

Background: Hereditary diffuse leukodystrophy with spheroids is a rare type of leukoencephalopathy. Mutations in the colony stimulating factor 1 receptor have recently been identified to be the cause of this microgliopathy. Clinical and radiological presentation can often misguide physicians during the diagnosis of patients with this underdiagnosed disease.

Case presentation: We present a 29 year-old woman with a rapid course of hereditary diffuse leukodystrophy with spheroids. She mainly showed cognitive impairment and severe motor dysfunctions. Her MRI showed spotted and confluent hyperintensities of the white matter on T2-weighted images involving the corticospinal tract as well as the corpus callosum. Further, those lesions showed striking restricted diffusion. As this restricted diffusion in all areas showing signs of leukoencephalopathy was so impressive we searched Medline for these terms and got hereditary diffuse leukodystrophy with spheroids as one of the first results. After a comprehensive diagnostic workup and exclusion of other leukoencephalopathies, stereotactic biopsy and genetic testing confirmed the diagnosis.

Conclusion: This case points out at two important features of hereditary diffuse leukodystrophy with spheroids being spotted and/or confluent leukoencephalopathy with areas of restricted diffusion. This might help to identify more patients with this underdiagnosed disease. Moreover, the rapid clinical course in our patient raises the question whether the relatively pronounced areas of restricted diffusion are indicative of a more acute progression of the disease.

No MeSH data available.


Related in: MedlinePlus

Neuroradiological findings. a MRI shows confluent hyperintense changes of the white matter on T2-weighted images, predominantly involving the pyramidal tract. b All areas displayed restricted diffusion, last image in row shows decreased values on ADC (white arrows). c Involvement of the corpus callosum on sagittal FLAIR (left) and coronal T2-weighted images (right). d Lack of contrast enhancement on T1-weighted images before (left) and after application of gadolinium (right). e On computed tomography two spots of calcification are seen in both frontal lobes
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Fig1: Neuroradiological findings. a MRI shows confluent hyperintense changes of the white matter on T2-weighted images, predominantly involving the pyramidal tract. b All areas displayed restricted diffusion, last image in row shows decreased values on ADC (white arrows). c Involvement of the corpus callosum on sagittal FLAIR (left) and coronal T2-weighted images (right). d Lack of contrast enhancement on T1-weighted images before (left) and after application of gadolinium (right). e On computed tomography two spots of calcification are seen in both frontal lobes

Mentions: MRI showed well-circumscribed, spotted and confluent hyperintensities on T2- and FLAIR-weighted images symmetrically in the periventricular white matter and in the corpus callosum (Fig. 1a + c). Those changes included and extended along the corticospinal tracts and the subcortical white matter sparing the U-fibers. On T1-weighted images, lesions were slightly hypo- to hyperintense, and after intravenous gadolinium application, no contrast enhancement was seen (Fig. 1d). Lesions showed strikingly restricted diffusion with decreased ADC-values (Fig. 1b). DSC perfusion did not reveal any changes of CBF or CBV (not shown). Compared with normal appearing white matter, 1H-MR-spectroscopy (TE 35 ms) of the affected areas revealed an unspecific pattern with an increased choline-peak (131 %), a decreased peak of N-acetylaspartate (31 %), and a decreased creatine-peak (73 %), while no lactate- or lipid-peaks were found (Fig. 2). On CT, those areas showed hypodensity, and small calcifications were found within the lesions symmetrically in the frontal white matter adjacent to the callosal truncus and in the callosal splenium (Fig. 1e). Conventional angiography of the extra- and intracranial vessel was unremarkable and excluded signs of vasculitis (not shown).Fig. 1


Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids.

Meyer-Ohlendorf M, Braczynski A, Al-Qaisi O, Gessler F, Biskup S, Weise L, Steinbach JP, Wagner M, Mittelbronn M, Bähr O - BMC Neurol (2015)

Neuroradiological findings. a MRI shows confluent hyperintense changes of the white matter on T2-weighted images, predominantly involving the pyramidal tract. b All areas displayed restricted diffusion, last image in row shows decreased values on ADC (white arrows). c Involvement of the corpus callosum on sagittal FLAIR (left) and coronal T2-weighted images (right). d Lack of contrast enhancement on T1-weighted images before (left) and after application of gadolinium (right). e On computed tomography two spots of calcification are seen in both frontal lobes
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4491230&req=5

Fig1: Neuroradiological findings. a MRI shows confluent hyperintense changes of the white matter on T2-weighted images, predominantly involving the pyramidal tract. b All areas displayed restricted diffusion, last image in row shows decreased values on ADC (white arrows). c Involvement of the corpus callosum on sagittal FLAIR (left) and coronal T2-weighted images (right). d Lack of contrast enhancement on T1-weighted images before (left) and after application of gadolinium (right). e On computed tomography two spots of calcification are seen in both frontal lobes
Mentions: MRI showed well-circumscribed, spotted and confluent hyperintensities on T2- and FLAIR-weighted images symmetrically in the periventricular white matter and in the corpus callosum (Fig. 1a + c). Those changes included and extended along the corticospinal tracts and the subcortical white matter sparing the U-fibers. On T1-weighted images, lesions were slightly hypo- to hyperintense, and after intravenous gadolinium application, no contrast enhancement was seen (Fig. 1d). Lesions showed strikingly restricted diffusion with decreased ADC-values (Fig. 1b). DSC perfusion did not reveal any changes of CBF or CBV (not shown). Compared with normal appearing white matter, 1H-MR-spectroscopy (TE 35 ms) of the affected areas revealed an unspecific pattern with an increased choline-peak (131 %), a decreased peak of N-acetylaspartate (31 %), and a decreased creatine-peak (73 %), while no lactate- or lipid-peaks were found (Fig. 2). On CT, those areas showed hypodensity, and small calcifications were found within the lesions symmetrically in the frontal white matter adjacent to the callosal truncus and in the callosal splenium (Fig. 1e). Conventional angiography of the extra- and intracranial vessel was unremarkable and excluded signs of vasculitis (not shown).Fig. 1

Bottom Line: After a comprehensive diagnostic workup and exclusion of other leukoencephalopathies, stereotactic biopsy and genetic testing confirmed the diagnosis.This might help to identify more patients with this underdiagnosed disease.Moreover, the rapid clinical course in our patient raises the question whether the relatively pronounced areas of restricted diffusion are indicative of a more acute progression of the disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Goethe University Hospital, Frankfurt, Germany. Marie.Meyer-Ohlendorf@kgu.de.

ABSTRACT

Background: Hereditary diffuse leukodystrophy with spheroids is a rare type of leukoencephalopathy. Mutations in the colony stimulating factor 1 receptor have recently been identified to be the cause of this microgliopathy. Clinical and radiological presentation can often misguide physicians during the diagnosis of patients with this underdiagnosed disease.

Case presentation: We present a 29 year-old woman with a rapid course of hereditary diffuse leukodystrophy with spheroids. She mainly showed cognitive impairment and severe motor dysfunctions. Her MRI showed spotted and confluent hyperintensities of the white matter on T2-weighted images involving the corticospinal tract as well as the corpus callosum. Further, those lesions showed striking restricted diffusion. As this restricted diffusion in all areas showing signs of leukoencephalopathy was so impressive we searched Medline for these terms and got hereditary diffuse leukodystrophy with spheroids as one of the first results. After a comprehensive diagnostic workup and exclusion of other leukoencephalopathies, stereotactic biopsy and genetic testing confirmed the diagnosis.

Conclusion: This case points out at two important features of hereditary diffuse leukodystrophy with spheroids being spotted and/or confluent leukoencephalopathy with areas of restricted diffusion. This might help to identify more patients with this underdiagnosed disease. Moreover, the rapid clinical course in our patient raises the question whether the relatively pronounced areas of restricted diffusion are indicative of a more acute progression of the disease.

No MeSH data available.


Related in: MedlinePlus