Dystonic storm due to Batten's disease treated with pallidotomy and deep brain stimulation

Movement Disorders

Volumn 24, Issue 7, 2009, Pages 1048-1053

  Elkay, Muruvet ^a   Silver, Kenneth ^a,b   Penn, Richard D ^a   Dalvi, Arif ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b NONE   (United States)

Author keywords

Batten's disease; Deep brain stimulation; Dystonic storm; Juvenile neuronal ceroid lipofuscinosis; Pallidotomy

Indexed keywords

AMITRIPTYLINE; BACLOFEN; BENZATROPINE MESILATE; BOTULINUM TOXIN; CHLORAL HYDRATE; CLONAZEPAM; CLORAZEPATE DIPOTASSIUM; CREATINE KINASE; DIAZEPAM; FENTANYL; GABAPENTIN; HALOPERIDOL; LORAZEPAM; MIDAZOLAM; OLANZAPINE; OXAZEPAM; PHENOBARBITAL; PREDNISONE; PROPOFOL; QUETIAPINE; RISPERIDONE; TETRABENAZINE; TRAZODONE; VALPROATE SEMISODIUM; ZONISAMIDE;

ADULT; ANAMNESIS; ARTICLE; BRAIN DEPTH STIMULATION; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DRUG TREATMENT FAILURE; DYSTONIA; FEMALE; HUMAN; HUMAN TISSUE; HYPERPYREXIA; INTUBATION; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPISTHOTONUS; PALLIDOTOMY; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SEDATION; SEIZURE; SIBLING; SURGICAL TECHNIQUE; VISUAL IMPAIRMENT;

ADULT; DEEP BRAIN STIMULATION; DYSTONIA; FEMALE; HUMANS; LONGITUDINAL STUDIES; NEURONAL CEROID-LIPOFUSCINOSES; PALLIDOTOMY; YOUNG ADULT;

EID: 67651166901     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22515     Document Type: Article

References (20)

1. Manji H, Howard RS, Miller DH, et al. Status dystonicus: the syndrome and its management. Brain 1998;121:243-252.
2. Rakheja D, Narayan SB, Bennett MJ. Juvenile neuronal ceroidlipofuscinosis (Batten disease): a brief review and update. Curr Mol Med 2007;7:603-608.
3. Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev 1988;10:80-83.
4. Boustany RM, Alroy J, Kolodny EH. Clinical classification of neuronal ceroid-lipofuscinosis subtypes. Am J Med Genet Suppl 1988;5:47-558.
5. Siintola E, Lehesjoki AE, Mole SE. Molecular genetics of the NCLs - status and perspectives. Biochim Biophys Acta 2006;1762: 857-864.
6. Mitchison HM, Taschener PE, O'Rawe AM, et al. Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association. Genomics 1994;22:465-468.
7. Autti T, Joensuu R, Aberg L. Decreased T2 signal in the thalami may be a sign of lysosomal storage disease. Neuroradiology 2007;49: 571-578.
8. Haltia M. The neuronal ceroid-lipofuscinoses: from past to present. Biochim Biophys Acta 2006;1762:850-856.
9. Williams RE, Aberg L, Autti T, Goebl HH, Kohlschütter A, Lönnqvist T. Diagnosis of the neuronal ceroid lipofuscinoses: an update. Biochim Biophys Acta 2006;1762:865-872.
10. Aberg L, Liewendahl K, Nikkinen P, Autti T, Rinne JO, Santavuori P. Decreased striatal dopamine transporter density in JNCL patients with parkinsonian symptoms. Neurology 2000;54:1069-1074.
11. Rinne JO, Ruottinen HM, Nagren K, Aberg LE, Santavuori P. Positron emission tomography shows reduced striatal dopamine D1 but not D2 receptors in juvenile neuronal ceroid lipofuscinosis. Neuropediatrics 2002;33:138-141.
12. Anzai Y, Hayashi M, Fueki N, Kurata K, Ohya T. Protracted juvenile neuronal ceroid lipofuscinosis - an autopsy report and immunohistochemical analysis. Brain Dev 2006;28:462-465.
13. Chattopadhyay S, Kriscenski-Perry E, Wenger DA, Pearce DA. An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Hum Mol Genet 2002; 11:1421-1431.
14. Naidu S. Movement disorders in neuronal ceroid-lipofuscinoses. J Inherit Metab Dis 1993;16:256-258.
15. Hofman IL. Observations in institutionalized neuronal ceroidlipofuscinosis patients with special reference to involuntary movements. J Inherit Metab Dis 1993;16:249-251.
16. Teive HA, Munhoz RP, Souza MM, et al. Status Dystonicus: study of five cases. Arq Neuropsiquiatr 2005;63:26-29.
17. Kyriagis M, Grattan-Smith P, Scheinberg A, Teo C, Nakaji N, Waugh M. Status dystonicus and Hallervorden-Spatz disease: treatment with intrathecal baclofen and pallidotomy. J Paediatr Child Health 2004;40:322-325.
18. Balas I, Kovacs N, Hollody K. Staged bilateral stereotactic pallidothalamotomy for life-threatening dystonia in a child with Hallervorden-Spatz disease. Mov Disord 2006;21:82-85.
19. Zorzi G, Marras C, Nardocci N, et al. Stimulation of the globus pallidus internus for childhood-onset dystonia. Mov Disord 2005; 20:1194-1200.
20. Hobert JA, Dawson G. Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future. Biochim Biophys Acta 2006; 1762:945-953.