Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease

C Coomans; A Sieben; M Lammens; C Ceuterick-de Groote; C Vandenbroecke; I Goethals; D Van Melkebeke; D Hemelsoet

doi:10.1007/s13760-018-1023-8

Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease

Acta Neurol Belg. 2018 Dec;118(4):607-615. doi: 10.1007/s13760-018-1023-8. Epub 2018 Sep 21.

Authors

C Coomans¹, A Sieben^{2

3}, M Lammens^{3

4

5}, C Ceuterick-de Groote³, C Vandenbroecke⁴, I Goethals⁶, D Van Melkebeke², D Hemelsoet²

Affiliations

¹ Department of Neurology, Ghent University Hospital, Ghent, Belgium. [email protected].
² Department of Neurology, Ghent University Hospital, Ghent, Belgium.
³ Institute Born-Bunge, Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
⁴ Department of Pathology, Ghent University Hospital, Ghent, Belgium.
⁵ Department of Pathology, Antwerp University Hospital, Antwerp, Belgium.
⁶ Department of Nuclear Medicine, Ghent University Hospital, Ghent, Belgium.

PMID: 30242731
DOI: 10.1007/s13760-018-1023-8

Abstract

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and Nasu Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy are both underrecognized progressive degenerative white matter diseases that can present with young dementia, leukoencephalopathy and brain calcifications. We report and compare three cases in terms of clinical phenotype, imaging and neuropathological findings. Both cases have led to the identification of two novel causal mutations.

Keywords: ALSP; Brain calcifications; Leukoencephalopathy; Nasu Hakola; PLOSL.

Publication types

Case Reports

MeSH terms

Adult
Brain / diagnostic imaging*
Brain / pathology
Calcinosis / diagnostic imaging*
Calcinosis / pathology
Dementia / diagnostic imaging*
Dementia / pathology
Epilepsy / diagnostic imaging*
Epilepsy / pathology
Female
Humans
Leukoencephalopathies / diagnostic imaging*
Leukoencephalopathies / pathology
Lipodystrophy / diagnostic imaging*
Lipodystrophy / pathology
Male
Middle Aged
Osteochondrodysplasias / diagnostic imaging*
Osteochondrodysplasias / pathology
Subacute Sclerosing Panencephalitis / diagnostic imaging*
Subacute Sclerosing Panencephalitis / pathology

Supplementary concepts

Hereditary Diffuse Leukoencephalopathy with Spheroids
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy