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Case report
Paroxysmal exertion-induced dystonia secondary to Erdheim-Chester disease F. Baldacci a,∗ , C. Lucetti b , A. Vergallo a , P. Borelli b , C. Tessa c , P. Viacava d , U. Bonuccelli a a
Department of Neuroscience, University of Pisa, Pisa, Italy Neurology Unit, Hospital of Viareggio, Viareggio, Lucca, Italy c Radiology Unit, Hospital of Viareggio, Viareggio, Lucca, Italy d Pathology Unit, Hospital of Viareggio, Viareggio, Lucca, Italy b
a r t i c l e
i n f o
Article history: Received 7 April 2012 Received in revised form 28 July 2012 Accepted 11 August 2012 Available online xxx Keywords: Paroxysmal dyskinesias Erdheim-Chester disease
1. Introduction Paroxysmal dyskinesias (PxDs) are involuntary, episodic movements including any combination of dystonia, ballism, chorea, or athetosis [1]. The events may be precipitated by sudden voluntary movements (paroxysmal kinesigenic dyskinesias) or may occur spontaneously at rest (paroxysmal non-kinesigenic dyskinesias precipitated by caffeine, alcohol, fatigue and emotional stress). An uncommon type of PxD is precipitated by exertion and is called paroxysmal exertion-induced dyskinesia (PED) [1]. Although most cases of PxD are primary, specific cause could be recognized such as multiple sclerosis, vascular lesions, trauma, or acquired metabolic abnormalities [1]. 2. Case report A 48-year-old man was seen in our neurology department for recurrent involuntary movements over the left side of the body characterized by hemifacial spasm, tonic cocontraction of the forearm flexors and extensors resulting in wrist flexion, and tonic cocontraction of leg muscles resulting in leg extension and ankle intra-rotation. These attacks occurred 5–10 times a day during physical activities, especially walking or squatting; they were preceded by feeling of stiffness on the hand and forearm lasting for 10 s to 2 min. He had been well until 6 years earlier as he first developed thirst and fatigue; because of this symptoms a diagnosis
∗ Corresponding author at: Department of Neuroscience, University of Pisa, Via Roma 67, Pisa, Italy. Tel.: +39 050992443; fax: +39 050550563. E-mail address:
[email protected] (F. Baldacci).
of diabetes insipidus was made, and desmopressin was successfully prescribed. Fatigue persisted and two years later he started to complain musculoskeletal pain especially on his knees, and persistent fever partially responsive to nonsteroidal anti-inflammatory drugs. Cognition as well as the rest of neurological examination was normal. Blood tests revealed mild anemia, persistently elevated erythrocyte sedimentation rate and an increased level of C-reactive protein. EEG as well as cerebrospinal fluid analysis was normal. Brain magnetic resonance imaging (MRI) reveled hyperintense lesions over right pons and midbrain regions on T2 and FLAIR sequences, with contrast agent enhancement; a widespread, bilateral mucosal thickening of the sinuses were also detected (Fig. 1a). The patient showed nearly pathognomonic radiographic changes in both tibiae and femora with bilateral symmetrical osteosclerosis of metaphyseal and diaphyseal regions with sparing of the epiphyses. MRI showed diffuse signal loss on T1-weighted images and heterogeneous high and low mixed signals on T2weighted sequences symmetrically in the diametaphyses of the distal femurs and proximal tibias, sparing the epiphyses (Fig. 1b). In addition, bone scintigraphy with 99m technetium methylene diphosphate disclosed increased bilateral uptake in the distal femurs and proximal tibias (Fig. 1c). Mucosa biopsy of the right maxillary sinus was eventually performed and the specimen was fibrous tissue with intense inflammatory infiltrate consisting of several mononuclear histiocytes mostly exhibiting a cytoplasmic foamy appearance (Fig. 1d), scanty lymphocytes, and plasma cells. Histiocytes were negative for CD1a and positive for S-100 and CD68 which confirmed the diagnosis of Erdheim-Chester disease (ECD). A trial with interferon-alpha for three months did not modify the clinical picture.
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Please cite this article in press as: Baldacci F, et al. Paroxysmal exertion-induced dystonia secondary to Erdheim-Chester disease. Clin Neurol Neurosurg (2012), http://dx.doi.org/10.1016/j.clineuro.2012.08.029
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Fig. 1. (a) Axial T1-weighted MRI of brain showing nodular enhancing lesion involving the right pons. Sphenoid sinus is filled by enhancing tissue. (b) T1-weighted MRI of both knees demonstrating patchy replacement of the bone marrow in the long bones by tissue showing low signal intensity. (c) Technetium99 bone scan: increased uptake of technetium is shown in long bones as well as in the sinuses. (d) Mucosa biopsy of the right maxillary sinus: high power view showing mononuclear foamy histiocytes (hematoxylin and eosin 400×).
3. Discussion In our case, the site of the cerebral lesion is localized in the right pons, near to the cortico-pyramidal tract. Secondary PxDs reported in literature showed several different lesion sites [1]. An ephaptic transmission of axons at any level of the motor pathway [1] has been suggested as pathogenetic mechanism; hence, as in our case, proximity of the lesion to preserved motor fibers may represent an important anatomical factor in dystonia triggering. In the case we reported, paroxysmal dystonia was secondary to ECD. ECD is a systemic, rare CD68+ CD1a− histiocytosis of unknown origin characterized by infiltrates of non-Langerhans histiocytes [2]. The clinical picture is variable depending on the organs involved being the hallmarks bilateral symmetric sclerosis of the diaphyseal and metaphyseal regions of the long bones. Diagnosis of this condition requires characteristic radiological findings and histological features with histiocytes staining for CD68 but not CD1a [3]. Neurological disorders due to ECD are most often associated with intra-axial tissue infiltration by foamy histiocytes which do not show specific features and they may be easily mistaken for tumors, demyelinating lesions or even infarcts [4]. Neurological involvement is present in about 30% of ECD cases and normally associated with pituitary stalk resulting in diabetes insipiduses [4]. Movement disorders most frequently occurred in course of ECD are ataxia and cerebellar impairment [4,5]. 4. Conclusions Our case shows that clinical picture of ECD largely depends upon the organs involvement and in case of central nervous
system involvement, neurological symptoms may be very heterogeneous, including movement disorders such as paroxysmal dystonia. Although very rare, ECD should be considered especially when a sporadic neurologic impairment is associated with diabetes insipidus and or bone pain. Financial disclosure related to research Filippo Baldacci, Claudio Lucetti, Andrea Vergallo, Paolo Borelli, Carlo Tessa, Paolo Viacava and Ubaldo Bonuccelli certify that they did not receive financial or material support for this research and work. Appendix A. Supplementary data Supplementary data associated with this article can be found, in the online version, at http://dx.doi.org/10.1016/j.clineuro. 2012.08.029. References [1] Blakeley J, Jankovic J. Secondary paroxysmal dyskinesias. Movement Disorders 2002;17(4):726–34. [2] Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, Wechsler J, Brun B, Remy M, et al. Erdheim-Chester disease. Medicine 1996;75:157–69. [3] Waite RJ, Doherty PW, Liepman M, Woda B. Langerhans cell histiocytosis with the radiographic findings of Erdheim-Chester disease. American Journal of Roentgenology 1988;150:869–71. [4] Lachenal F, Cotton F, Desmurs-Clavel H, et al. Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature. Journal of Neurology 2006;253:1267–77. [5] Na SJ, Lee KO, Kim JE, Kim YD. A case of cerebral Erdheim-Chester disease with progressive cerebellar syndrome. Journal of Clinical Neurology 2008;4(1):45–50.
Please cite this article in press as: Baldacci F, et al. Paroxysmal exertion-induced dystonia secondary to Erdheim-Chester disease. Clin Neurol Neurosurg (2012), http://dx.doi.org/10.1016/j.clineuro.2012.08.029
