Chediak-Higashi syndrome with parkinsonism

Movement Disorders

Volumn 19, Issue 4, 2004, Pages 472-475

  Silveira Moriyama, Laura ^a,c   Moriyama, Tais S ^b   Gabbi, Tatiana V B ^a   Ranvaud, Ronald ^a   Barbosa, Egberto R ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c São Paulo University ^*  (Brazil)

Author keywords

Chediak Higashi syndrome; Extrapyramidal signs; Parkinsonism

Indexed keywords

AMANTADINE; ANTIPARKINSON AGENT; BIPERIDEN; CHLORPROMAZINE; LEVODOPA;

ADULT; AGGRESSIVENESS; ALBINISM; ANAMNESIS; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHEDIAK HIGASHI SYNDROME; DISEASE ASSOCIATION; DISEASE SEVERITY; DYSKINESIA; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; FEMALE; HEMATOLOGIC DISEASE; HUMAN; LABORATORY TEST; NERVE CONDUCTION; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

ADULT; BASAL GANGLIA DISEASES; BRAIN; CHEDIAK-HIGASHI SYNDROME; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; NEUTROPHILS; PARKINSONIAN DISORDERS; VIDEOTAPE RECORDING;

EID: 2342430417     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.10677     Document Type: Article

References (15)

1. Spritz RA. Genetic defects in Chediak-Higashi syndrome and the beige mouse. J Clin Immunol 1998;18:97-105.
2. Karim MA, Suzuki K, Fukai K, et al. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet 2002;108:16-22.
3. Blume RS, Wolff SM. The Chediak-Higashi syndrome: studies in four patients and a review of the literature. Medicine 1972;5:247-280.
4. Wedom D, editor. Skin pathology. New York: Churchill Livingstone; 2002. p 468.
5. Uyama E, Hirano T, Ito K, et al. Adult Chediak-Higashi syndrome presenting as parkinsonism an dementia. Acta Neurol Scand 1994; 89:175-183.
6. Kondo N, Shimozawa N, Asano J, Imamura A, Orii T. Chediak-Higashi syndrome with cerebellar cortical atrophy detected by MRI. Clin Genet 1994;46:439-440.
7. Ballard R, Tien RD, Nohria V, Juel V. The Chediak-Higashi syndrome: CT and MRI findings. Pediatr Radiol 1994;24:266-267.
8. Hauser RA, Friedlander J, Baker MJ, Thomas J, Zuckerman KS. Adult Chediak-Higashi parkinsonian syndrome with dystonia. Mov Disord 2000;15:705-708.
9. Sheramata W, Stephen K, Donat PC. The Chediak-Higashi-Steinbrinck syndrome: presentation of three cases with features resembling spinocerebellar degeneration. Arch Neurol 1971;25:289-294.
10. Pettit RE, Karen GB. Chediak-Higashi syndrome: neurologic appearance. Arch Neurol 1984;41:1001-1002.
11. Donohue WL, Bain HW. Chediak-Higashi syndrome. A lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy. Pediatrics 1957;20:416-430.
12. Lockman LA, Kennedy WR, White JG. The Chediak-Higashi syndrome: electrophysiological and electron microscopic observations on the peripheral neuropathy. J Pediatr 1967;70:942-951.
13. Misra VP, King RH, Harding AE, Muddle JR, Thomas PK. Peripheral neuropathy in the Chediak-Higashi syndrome. Acta Neuropathol 1991;81:354-358.
14. Sung JH, Meyers JP, Stadlan, EM, Cowen D, Wolf A. Neuropathological changes in Chediak-Higashi disease. J Neuropathol Exp Neurol 1969;28:86-118.
15. Maeda K, Sueishi K, Lida M. A case report of Chediak-Higashi syndrome complicated with systemic amyloidosis and olivocerebellar degeneration. Pathol Res Pract 1989;185:231-237.