The University of Southampton
University of Southampton Institutional Repository

Early-onset LBSL: how severe does it get?

Early-onset LBSL: how severe does it get?
Early-onset LBSL: how severe does it get?
Aim?Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is known as a relatively mild leukoencephalopathy. We investigated the occurrence of severe variants of LBSL with extensive brain magnetic resonance imaging (MRI) abnormalities.Method?MRIs of approximately 3,000 patients with an unknown leukoencephalopathy were retrospectively reviewed for extensive signal abnormalities of the cerebral and cerebellar white matter, posterior limb of the internal capsule, cerebellar peduncles, pyramids, and medial lemniscus. Clinical data were retrospectively collected.Results?Eleven patients fulfilled the MRI criteria (six males); six had DARS2 mutations. Clinical and laboratory findings did not distinguish between patients with and without DARS2 mutations, but MRI did. Patients with DARS2 mutations more often had involvement of structures typically affected in LBSL, including decussatio of the medial lemniscus, anterior spinocerebellar tracts, and superior and inferior cerebellar peduncles. Also, involvement of the globus pallidus was associated with DARS2 mutations. Earliest disease onset was neonatal; earliest death at 20 months.Interpretation?This study confirms the occurrence of early infantile, severe LBSL, extending the known phenotypic range of LBSL. Abnormality of specific brainstem tracts and cerebellar peduncles are MRI findings that point to the correct diagnosis.
0174-304X
332-338
Steenweg, M.E.
41c07ae5-0a24-40f2-852c-78ba8b01eafd
van Berge, L.
7dc18e51-f2ae-4529-9123-f692765e6161
van Berkel, C.G.M.
f70dcbee-00d3-4250-83a5-410fea98e232
de Coo, I.F.M.
5429d1c1-212a-4848-a888-30d5aa2b2b8a
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Brockmann, K.
51cad8b3-2a68-4a33-8b49-a72351b3a051
Mendonça, C.I.P.
aff1cf01-590c-4138-8261-ff32724b1cc7
Vojta, S.
21de58ca-7345-4415-82d5-6731762cc2bc
Kolk, A.
8f8c0a4d-9802-46f2-b28d-f57f13ad00a7
Peck, D.
611e4b14-7c8f-437e-bdd3-36bd8e82b305
Carr, L.
1fdb57b5-1797-429a-9da5-c84e6cece770
Uziel, G.
2a510727-6302-46be-9479-db12bb5c6007
Feigenbaum, A.
2867da03-97bd-4be1-a48c-84ef4aa98726
Blaser, S.
f69d331d-8f19-401e-bc72-795a0f8204a7
Scheper, G.C.
f82821cd-4256-4df9-943b-31760b4aa176
van der Knaap, M.S.
f828b7b4-c968-4d56-bd5d-1c1033dd8dfc
Steenweg, M.E.
41c07ae5-0a24-40f2-852c-78ba8b01eafd
van Berge, L.
7dc18e51-f2ae-4529-9123-f692765e6161
van Berkel, C.G.M.
f70dcbee-00d3-4250-83a5-410fea98e232
de Coo, I.F.M.
5429d1c1-212a-4848-a888-30d5aa2b2b8a
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Brockmann, K.
51cad8b3-2a68-4a33-8b49-a72351b3a051
Mendonça, C.I.P.
aff1cf01-590c-4138-8261-ff32724b1cc7
Vojta, S.
21de58ca-7345-4415-82d5-6731762cc2bc
Kolk, A.
8f8c0a4d-9802-46f2-b28d-f57f13ad00a7
Peck, D.
611e4b14-7c8f-437e-bdd3-36bd8e82b305
Carr, L.
1fdb57b5-1797-429a-9da5-c84e6cece770
Uziel, G.
2a510727-6302-46be-9479-db12bb5c6007
Feigenbaum, A.
2867da03-97bd-4be1-a48c-84ef4aa98726
Blaser, S.
f69d331d-8f19-401e-bc72-795a0f8204a7
Scheper, G.C.
f82821cd-4256-4df9-943b-31760b4aa176
van der Knaap, M.S.
f828b7b4-c968-4d56-bd5d-1c1033dd8dfc

Steenweg, M.E., van Berge, L., van Berkel, C.G.M., de Coo, I.F.M., Temple, I.K., Brockmann, K., Mendonça, C.I.P., Vojta, S., Kolk, A., Peck, D., Carr, L., Uziel, G., Feigenbaum, A., Blaser, S., Scheper, G.C. and van der Knaap, M.S. (2012) Early-onset LBSL: how severe does it get? Neuropediatrics, 43 (6), 332-338. (doi:10.1055/s-0032-1329395). (PMID:23065766)

Record type: Article

Abstract

Aim?Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is known as a relatively mild leukoencephalopathy. We investigated the occurrence of severe variants of LBSL with extensive brain magnetic resonance imaging (MRI) abnormalities.Method?MRIs of approximately 3,000 patients with an unknown leukoencephalopathy were retrospectively reviewed for extensive signal abnormalities of the cerebral and cerebellar white matter, posterior limb of the internal capsule, cerebellar peduncles, pyramids, and medial lemniscus. Clinical data were retrospectively collected.Results?Eleven patients fulfilled the MRI criteria (six males); six had DARS2 mutations. Clinical and laboratory findings did not distinguish between patients with and without DARS2 mutations, but MRI did. Patients with DARS2 mutations more often had involvement of structures typically affected in LBSL, including decussatio of the medial lemniscus, anterior spinocerebellar tracts, and superior and inferior cerebellar peduncles. Also, involvement of the globus pallidus was associated with DARS2 mutations. Earliest disease onset was neonatal; earliest death at 20 months.Interpretation?This study confirms the occurrence of early infantile, severe LBSL, extending the known phenotypic range of LBSL. Abnormality of specific brainstem tracts and cerebellar peduncles are MRI findings that point to the correct diagnosis.

This record has no associated files available for download.

More information

Accepted/In Press date: 12 October 2012
Published date: December 2012
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 344283
URI: http://eprints.soton.ac.uk/id/eprint/344283
ISSN: 0174-304X
PURE UUID: e1010f74-8350-42ea-806f-dc2139c4b699
ORCID for I.K. Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 16 Oct 2012 14:12
Last modified: 15 Mar 2024 03:00

Export record

Altmetrics

Contributors

Author: M.E. Steenweg
Author: L. van Berge
Author: C.G.M. van Berkel
Author: I.F.M. de Coo
Author: I.K. Temple ORCID iD
Author: K. Brockmann
Author: C.I.P. Mendonça
Author: S. Vojta
Author: A. Kolk
Author: D. Peck
Author: L. Carr
Author: G. Uziel
Author: A. Feigenbaum
Author: S. Blaser
Author: G.C. Scheper
Author: M.S. van der Knaap

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×