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Brain imaging in Kufs disease type B: case reports.

Di Fabio R, Colonnese C, Santorelli FM, Pestillo L, Pierelli F - BMC Neurol (2015)

Bottom Line: The neuroradiological characteristics of this uncommon disease have not yet been outlined.Together with a brain volume reduction, the two cases showed white matter hyperintensities and thinning of the corpus callosum at onset of the cognitive decline.White matter hyperintensities associated with volume reduction of the corpus callosum may be present at the beginning of the behavioural changes in CLN13 and represent further clues for searching mutations in CTSF.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Corso della Repubblica 79, Latina, Italy. rodifa@gmail.com.

ABSTRACT

Background: The clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established according to the neurological features of the cases reported with mutations in CTSF. The neuroradiological characteristics of this uncommon disease have not yet been outlined.

Case presentation: We hereby report the brain MRI features in two Caucasian women who carried homozygous mutations in CTSF, providing a short review of the neuroradiological findings of other common NCLs. Together with a brain volume reduction, the two cases showed white matter hyperintensities and thinning of the corpus callosum at onset of the cognitive decline.

Conclusion: White matter hyperintensities associated with volume reduction of the corpus callosum may be present at the beginning of the behavioural changes in CLN13 and represent further clues for searching mutations in CTSF.

No MeSH data available.


Related in: MedlinePlus

Brain MRI imaging in two patients with Kufs disease type B. Case 1. Axial T2-TSE (a and b), coronal T2-FLAIR (c), and sagittal T1-TSE (d) sections at onset of cognitive impairment showing cortico-subcortical atrophy, predominant in the parieto-occipital regions and the cerebellum, white matter hyperintensities and thinning of the corpus callosum (arrow). Case 2. Images at onset of cognitive impairment: axial T2-TSE (a1), coronal T2-FLAIR (b1) and sagittal T1-TSE (c1) sections displayed brain atrophy, mainly involving the cerebellum, periventricular hyperintensities and thinning of the corpus callosum (arrow). Follow up imaging: axial T2-TSE (a2) and coronal T2-FLAIR (b2) and sagittal T1-TSE (c2) scans taken in the same patient 9 years later
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Fig1: Brain MRI imaging in two patients with Kufs disease type B. Case 1. Axial T2-TSE (a and b), coronal T2-FLAIR (c), and sagittal T1-TSE (d) sections at onset of cognitive impairment showing cortico-subcortical atrophy, predominant in the parieto-occipital regions and the cerebellum, white matter hyperintensities and thinning of the corpus callosum (arrow). Case 2. Images at onset of cognitive impairment: axial T2-TSE (a1), coronal T2-FLAIR (b1) and sagittal T1-TSE (c1) sections displayed brain atrophy, mainly involving the cerebellum, periventricular hyperintensities and thinning of the corpus callosum (arrow). Follow up imaging: axial T2-TSE (a2) and coronal T2-FLAIR (b2) and sagittal T1-TSE (c2) scans taken in the same patient 9 years later

Mentions: A 43-year-old woman (case 1) presented at the age of 23 years clusters of tonic-clonic seizures, fully controlled by a combination of sodium valproate (1250 mg/day) and carbamazepine (1200 mg/day). Her previous medical history was unremarkable except for several mild head traumas. No MRI scan were obtained at that time. From the age of 30, the patient showed rapid cognitive decline, postural tremor, sporadic myoclonic jerks in the lower limbs, and transient facial dyskinesias. Her vision was preserved. Brain MRI showed cerebral atrophy, mainly in the parieto-occipital regions, cerebellar atrophy and T2-weighted hyperintensities in the periventricular areas (Fig. 1).Fig. 1


Brain imaging in Kufs disease type B: case reports.

Di Fabio R, Colonnese C, Santorelli FM, Pestillo L, Pierelli F - BMC Neurol (2015)

Brain MRI imaging in two patients with Kufs disease type B. Case 1. Axial T2-TSE (a and b), coronal T2-FLAIR (c), and sagittal T1-TSE (d) sections at onset of cognitive impairment showing cortico-subcortical atrophy, predominant in the parieto-occipital regions and the cerebellum, white matter hyperintensities and thinning of the corpus callosum (arrow). Case 2. Images at onset of cognitive impairment: axial T2-TSE (a1), coronal T2-FLAIR (b1) and sagittal T1-TSE (c1) sections displayed brain atrophy, mainly involving the cerebellum, periventricular hyperintensities and thinning of the corpus callosum (arrow). Follow up imaging: axial T2-TSE (a2) and coronal T2-FLAIR (b2) and sagittal T1-TSE (c2) scans taken in the same patient 9 years later
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4491254&req=5

Fig1: Brain MRI imaging in two patients with Kufs disease type B. Case 1. Axial T2-TSE (a and b), coronal T2-FLAIR (c), and sagittal T1-TSE (d) sections at onset of cognitive impairment showing cortico-subcortical atrophy, predominant in the parieto-occipital regions and the cerebellum, white matter hyperintensities and thinning of the corpus callosum (arrow). Case 2. Images at onset of cognitive impairment: axial T2-TSE (a1), coronal T2-FLAIR (b1) and sagittal T1-TSE (c1) sections displayed brain atrophy, mainly involving the cerebellum, periventricular hyperintensities and thinning of the corpus callosum (arrow). Follow up imaging: axial T2-TSE (a2) and coronal T2-FLAIR (b2) and sagittal T1-TSE (c2) scans taken in the same patient 9 years later
Mentions: A 43-year-old woman (case 1) presented at the age of 23 years clusters of tonic-clonic seizures, fully controlled by a combination of sodium valproate (1250 mg/day) and carbamazepine (1200 mg/day). Her previous medical history was unremarkable except for several mild head traumas. No MRI scan were obtained at that time. From the age of 30, the patient showed rapid cognitive decline, postural tremor, sporadic myoclonic jerks in the lower limbs, and transient facial dyskinesias. Her vision was preserved. Brain MRI showed cerebral atrophy, mainly in the parieto-occipital regions, cerebellar atrophy and T2-weighted hyperintensities in the periventricular areas (Fig. 1).Fig. 1

Bottom Line: The neuroradiological characteristics of this uncommon disease have not yet been outlined.Together with a brain volume reduction, the two cases showed white matter hyperintensities and thinning of the corpus callosum at onset of the cognitive decline.White matter hyperintensities associated with volume reduction of the corpus callosum may be present at the beginning of the behavioural changes in CLN13 and represent further clues for searching mutations in CTSF.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Corso della Repubblica 79, Latina, Italy. rodifa@gmail.com.

ABSTRACT

Background: The clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established according to the neurological features of the cases reported with mutations in CTSF. The neuroradiological characteristics of this uncommon disease have not yet been outlined.

Case presentation: We hereby report the brain MRI features in two Caucasian women who carried homozygous mutations in CTSF, providing a short review of the neuroradiological findings of other common NCLs. Together with a brain volume reduction, the two cases showed white matter hyperintensities and thinning of the corpus callosum at onset of the cognitive decline.

Conclusion: White matter hyperintensities associated with volume reduction of the corpus callosum may be present at the beginning of the behavioural changes in CLN13 and represent further clues for searching mutations in CTSF.

No MeSH data available.


Related in: MedlinePlus