Cerebellar leukoencephalopathy: most likely histiocytosis-related

M.S. van der Knaap, W.F.M. Arts, J.Y. Garbern, G. Hedlund, F. Winkler, C. Barbosa, M.D. King, A. Bjornstad, N. Hussain, M.K. Beyer, C. Gomez, M.C. Patterson, P. Grattan-Smith, M. Timmons, P. van der Valk

    Research output: Contribution to JournalArticleAcademicpeer-review

    Abstract

    Background: Histiocytosis, both Langerhans and non-Langerhans cell type, can be associated with cerebellar white matter abnormalities, thought to be paraneoplastic. The associated clinical picture consists of ataxia, spasticity, and cognitive decline. Hormonal dysfunction is frequent. MRI shows cerebellar white matter abnormalities, as well as brainstem and basal ganglia abnormalities. This so-called "neurodegenerative syndromeg" may occur years before or during manifest histiocytosis and also years after cure. We discovered similar MRI abnormalities in 13 patients and wondered whether they could have the same syndrome. Methods: We reviewed the clinical and laboratory information of these 13 patients and evaluated their brain MRIs. Seven patients underwent spinal cord MRI. Results: All patients were isolated cases; 10 were male. They had signs of cerebellar and pyramidal dysfunction, behavioral problems, and cognitive decline. MRI showed abnormalities of the cerebellar white matter, brainstem, basal ganglia, and, to a lesser extent, cerebral white matter. Three patients had spinal cord lesions. Three patients had laboratory evidence of hormonal dysfunction. No evidence was found of an underlying metabolic defect. In two patients biopsy of nodular brain lesions revealed histiocytic infiltrates. Conclusions: Considering the striking clinical and MRI similarities between our patients and the patients with this neurodegenerative syndrome in the context of proven histiocytosis, it is likely that they share the same paraneoplastic syndrome, although we cannot exclude a genetic disorder with certainty. The fact that we found histiocytic lesions in two patients substantiates our conclusion. Patients with cerebellar white matter abnormalities should be monitored for histiocytosis. © 2008 by AAN Enterprises, Inc.
    Original languageEnglish
    Pages (from-to)1361-1367
    JournalNeurology
    Volume71
    Issue number17
    DOIs
    Publication statusPublished - 2008

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    Histiocytosis
    Leukoencephalopathies
    Basal Ganglia
    Brain Stem
    Spinal Cord
    Cerebellar Diseases
    Paraneoplastic Syndromes
    Inborn Genetic Diseases
    Brain
    Ataxia

    Cite this

    van der Knaap, M. S., Arts, W. F. M., Garbern, J. Y., Hedlund, G., Winkler, F., Barbosa, C., ... van der Valk, P. (2008). Cerebellar leukoencephalopathy: most likely histiocytosis-related. Neurology, 71(17), 1361-1367. https://doi.org/10.1212/01.wnl.0000327680.74910.93
    van der Knaap, M.S. ; Arts, W.F.M. ; Garbern, J.Y. ; Hedlund, G. ; Winkler, F. ; Barbosa, C. ; King, M.D. ; Bjornstad, A. ; Hussain, N. ; Beyer, M.K. ; Gomez, C. ; Patterson, M.C. ; Grattan-Smith, P. ; Timmons, M. ; van der Valk, P. / Cerebellar leukoencephalopathy: most likely histiocytosis-related. In: Neurology. 2008 ; Vol. 71, No. 17. pp. 1361-1367.
    @article{343482af91994d478092bd9ddfb8dd78,
    title = "Cerebellar leukoencephalopathy: most likely histiocytosis-related",
    abstract = "Background: Histiocytosis, both Langerhans and non-Langerhans cell type, can be associated with cerebellar white matter abnormalities, thought to be paraneoplastic. The associated clinical picture consists of ataxia, spasticity, and cognitive decline. Hormonal dysfunction is frequent. MRI shows cerebellar white matter abnormalities, as well as brainstem and basal ganglia abnormalities. This so-called {"}neurodegenerative syndromeg{"} may occur years before or during manifest histiocytosis and also years after cure. We discovered similar MRI abnormalities in 13 patients and wondered whether they could have the same syndrome. Methods: We reviewed the clinical and laboratory information of these 13 patients and evaluated their brain MRIs. Seven patients underwent spinal cord MRI. Results: All patients were isolated cases; 10 were male. They had signs of cerebellar and pyramidal dysfunction, behavioral problems, and cognitive decline. MRI showed abnormalities of the cerebellar white matter, brainstem, basal ganglia, and, to a lesser extent, cerebral white matter. Three patients had spinal cord lesions. Three patients had laboratory evidence of hormonal dysfunction. No evidence was found of an underlying metabolic defect. In two patients biopsy of nodular brain lesions revealed histiocytic infiltrates. Conclusions: Considering the striking clinical and MRI similarities between our patients and the patients with this neurodegenerative syndrome in the context of proven histiocytosis, it is likely that they share the same paraneoplastic syndrome, although we cannot exclude a genetic disorder with certainty. The fact that we found histiocytic lesions in two patients substantiates our conclusion. Patients with cerebellar white matter abnormalities should be monitored for histiocytosis. {\circledC} 2008 by AAN Enterprises, Inc.",
    author = "{van der Knaap}, M.S. and W.F.M. Arts and J.Y. Garbern and G. Hedlund and F. Winkler and C. Barbosa and M.D. King and A. Bjornstad and N. Hussain and M.K. Beyer and C. Gomez and M.C. Patterson and P. Grattan-Smith and M. Timmons and {van der Valk}, P.",
    year = "2008",
    doi = "10.1212/01.wnl.0000327680.74910.93",
    language = "English",
    volume = "71",
    pages = "1361--1367",
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    van der Knaap, MS, Arts, WFM, Garbern, JY, Hedlund, G, Winkler, F, Barbosa, C, King, MD, Bjornstad, A, Hussain, N, Beyer, MK, Gomez, C, Patterson, MC, Grattan-Smith, P, Timmons, M & van der Valk, P 2008, 'Cerebellar leukoencephalopathy: most likely histiocytosis-related' Neurology, vol. 71, no. 17, pp. 1361-1367. https://doi.org/10.1212/01.wnl.0000327680.74910.93

    Cerebellar leukoencephalopathy: most likely histiocytosis-related. / van der Knaap, M.S.; Arts, W.F.M.; Garbern, J.Y.; Hedlund, G.; Winkler, F.; Barbosa, C.; King, M.D.; Bjornstad, A.; Hussain, N.; Beyer, M.K.; Gomez, C.; Patterson, M.C.; Grattan-Smith, P.; Timmons, M.; van der Valk, P.

    In: Neurology, Vol. 71, No. 17, 2008, p. 1361-1367.

    Research output: Contribution to JournalArticleAcademicpeer-review

    TY - JOUR

    T1 - Cerebellar leukoencephalopathy: most likely histiocytosis-related

    AU - van der Knaap, M.S.

    AU - Arts, W.F.M.

    AU - Garbern, J.Y.

    AU - Hedlund, G.

    AU - Winkler, F.

    AU - Barbosa, C.

    AU - King, M.D.

    AU - Bjornstad, A.

    AU - Hussain, N.

    AU - Beyer, M.K.

    AU - Gomez, C.

    AU - Patterson, M.C.

    AU - Grattan-Smith, P.

    AU - Timmons, M.

    AU - van der Valk, P.

    PY - 2008

    Y1 - 2008

    N2 - Background: Histiocytosis, both Langerhans and non-Langerhans cell type, can be associated with cerebellar white matter abnormalities, thought to be paraneoplastic. The associated clinical picture consists of ataxia, spasticity, and cognitive decline. Hormonal dysfunction is frequent. MRI shows cerebellar white matter abnormalities, as well as brainstem and basal ganglia abnormalities. This so-called "neurodegenerative syndromeg" may occur years before or during manifest histiocytosis and also years after cure. We discovered similar MRI abnormalities in 13 patients and wondered whether they could have the same syndrome. Methods: We reviewed the clinical and laboratory information of these 13 patients and evaluated their brain MRIs. Seven patients underwent spinal cord MRI. Results: All patients were isolated cases; 10 were male. They had signs of cerebellar and pyramidal dysfunction, behavioral problems, and cognitive decline. MRI showed abnormalities of the cerebellar white matter, brainstem, basal ganglia, and, to a lesser extent, cerebral white matter. Three patients had spinal cord lesions. Three patients had laboratory evidence of hormonal dysfunction. No evidence was found of an underlying metabolic defect. In two patients biopsy of nodular brain lesions revealed histiocytic infiltrates. Conclusions: Considering the striking clinical and MRI similarities between our patients and the patients with this neurodegenerative syndrome in the context of proven histiocytosis, it is likely that they share the same paraneoplastic syndrome, although we cannot exclude a genetic disorder with certainty. The fact that we found histiocytic lesions in two patients substantiates our conclusion. Patients with cerebellar white matter abnormalities should be monitored for histiocytosis. © 2008 by AAN Enterprises, Inc.

    AB - Background: Histiocytosis, both Langerhans and non-Langerhans cell type, can be associated with cerebellar white matter abnormalities, thought to be paraneoplastic. The associated clinical picture consists of ataxia, spasticity, and cognitive decline. Hormonal dysfunction is frequent. MRI shows cerebellar white matter abnormalities, as well as brainstem and basal ganglia abnormalities. This so-called "neurodegenerative syndromeg" may occur years before or during manifest histiocytosis and also years after cure. We discovered similar MRI abnormalities in 13 patients and wondered whether they could have the same syndrome. Methods: We reviewed the clinical and laboratory information of these 13 patients and evaluated their brain MRIs. Seven patients underwent spinal cord MRI. Results: All patients were isolated cases; 10 were male. They had signs of cerebellar and pyramidal dysfunction, behavioral problems, and cognitive decline. MRI showed abnormalities of the cerebellar white matter, brainstem, basal ganglia, and, to a lesser extent, cerebral white matter. Three patients had spinal cord lesions. Three patients had laboratory evidence of hormonal dysfunction. No evidence was found of an underlying metabolic defect. In two patients biopsy of nodular brain lesions revealed histiocytic infiltrates. Conclusions: Considering the striking clinical and MRI similarities between our patients and the patients with this neurodegenerative syndrome in the context of proven histiocytosis, it is likely that they share the same paraneoplastic syndrome, although we cannot exclude a genetic disorder with certainty. The fact that we found histiocytic lesions in two patients substantiates our conclusion. Patients with cerebellar white matter abnormalities should be monitored for histiocytosis. © 2008 by AAN Enterprises, Inc.

    U2 - 10.1212/01.wnl.0000327680.74910.93

    DO - 10.1212/01.wnl.0000327680.74910.93

    M3 - Article

    VL - 71

    SP - 1361

    EP - 1367

    JO - Neurology

    JF - Neurology

    SN - 0028-3878

    IS - 17

    ER -