CT hypodensity on cerebral white matter in Wilson's disease

Jardim, Laura B.; Carneiro, Aníbal; Hansel, Suzana; Rieder, Carlos R. M.; Giugliani, Roberto

doi:10.1590/S0004-282X1991000200017

Abstracts

Wilson's disease in an autosomal recessive disorder of copper metabolism where systemic manifestations are secondary to thei accumulation of copper in hepatic, nervous and other tissues. In CNS, the structural lesions most commonly found by CT scan are ventricular dilatation, cortical atrophy, basal ganglia hyperdensities, and brainstem and cerebellar atrophy. Degenerative changes of cerebral white matter seen on early anatomo-pathologic studies, but were almost never found on CT scan from recently described patients. We report a case of Wilson's disease with an unusually rapid deterioration where asymmetric low-densities in the subcortical white matter were disclosed by CT scan.

A doença de Wilson é desordem autossômica recessiva do metabolismo do cobre, cujas manifestações sistêmicas são secundárias ao acúmulo de cobre nos tecidos, especialmente no fígado e no SNC. Neste, as lesões estruturais mais comumente encontradas pela TC são: dilatação ventricular, atrofia cortical, hiperdensidades dos núcleos da base e atrofia cerebelar e de tronco cerebral. Lesões degenerativas da substância, branca cerebral foram relatadas em estudos anátomo-patológicos realizados até os anos 60, mas quase nunca foram documentadas por TC em pacientes mais recentes. Neste artigo é descrito o caso de paciente com doença de Wilson, de rápida deterioração, no qual a TC mostrou hipodensidades assimétricas na substância branca subcortical.

CONTENTS CONTEÚDO

Laura B. JardimI; Aníbal CarneiroII; Suzana HanselII; Carlos R. M. RiederII; Roberto GiuglianiIII

IM.D., Neurologist and Clinical Geneticist - Medical Genetics Unit and Neurologic Service, Clinical Hospital of Porto Alegre (Brasil)

IIM.D., Neurologist - Medical Genetics Unit and Neurologic Service, Clinical Hospital of Porto Alegre (Brasil)

IIIM.D., Ph. D., Clinical Geneticist - Medical Genetics Unit and Neurologic Service, Clinical Hospital of Porto Alegre (Brasil)

SUMMARY

Wilson's disease in an autosomal recessive disorder of copper metabolism where systemic manifestations are secondary to thei accumulation of copper in hepatic, nervous and other tissues. In CNS, the structural lesions most commonly found by CT scan are ventricular dilatation, cortical atrophy, basal ganglia hyperdensities, and brainstem and cerebellar atrophy. Degenerative changes of cerebral white matter seen on early anatomo-pathologic studies, but were almost never found on CT scan from recently described patients. We report a case of Wilson's disease with an unusually rapid deterioration where asymmetric low-densities in the subcortical white matter were disclosed by CT scan.

RESUMO

A doença de Wilson é desordem autossômica recessiva do metabolismo do cobre, cujas manifestações sistêmicas são secundárias ao acúmulo de cobre nos tecidos, especialmente no fígado e no SNC. Neste, as lesões estruturais mais comumente encontradas pela TC são: dilatação ventricular, atrofia cortical, hiperdensidades dos núcleos da base e atrofia cerebelar e de tronco cerebral. Lesões degenerativas da substância, branca cerebral foram relatadas em estudos anátomo-patológicos realizados até os anos 60, mas quase nunca foram documentadas por TC em pacientes mais recentes. Neste artigo é descrito o caso de paciente com doença de Wilson, de rápida deterioração, no qual a TC mostrou hipodensidades assimétricas na substância branca subcortical.

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Acknowledgements - The Medical Genetics Unit is supported by grants of Brazilian research agencies (CNPq, FINER, FAFERGS and PROPESP/UFRGS) and RTMDC (Research Trust for Metabolic Disease in Children). R.G. is recipient of a research fellowship from CNPq.

Dra. Laura B. Jardim - Unidade de Genética Médica, Hospital de Clínicas de Porto Alegre - Rua Ramiro Barcelos 2350 - 90210 Porto Alegre RS - Brasil

1. Barbosa ER, Scaff M, Comerlatti LR, Canelas HM. Hepatolenticular degeneration: a critical analysis of the diagnostic criteria on the, ground of 95 cases. Arq Neuro-Psiquiat (São Paulo) 1985, 43:234-242.
2. Berkow R. Wilson's disease in the Merck Manual: corrections (let). JAMA 1988, 258:2997-2998.
3. Canelas HM. Hepatolenticular degeneration: a comprehensive review apropos of 102 cases. Arq Neuro-Psiquiat (São Paulo) 1987, 45:197-212.
4. Danks DM. Disorders of copper transport. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 1989, p 1411-1431.
5. Figus A, Lampis R, Devoto M, Ristaldi MS, Ideo A, de Virgilis S, Nurchi AM, Corrias A, Corda R, Lai ME, Tocco A, Deplano A, Solinas A, Zancan L, Lee WH, Cao A, Pirastu M, Balestrieri A. Carrier detection and early diagnosis of Wilson's disease by restriction fragment lenght polymorfism analysis. J Med Genet 1989, 26:78-82.
6. Harik SI, Post JD. Computed tomography in Wilson disease. Neurology 1981, 31:107-110.
7. McGrary JA. Magnetic resonance imaging diagnosis of hepatolenticular degeneration. Arch Ophtalmol 1987, 105:277.
8. McDowell FH, Lee JE, Sweet RD. Extrapyramidal disease. In Baker AB, Baker LH (eds) : Clinical Neurology. Philadelphia: Harper and Row, 1982, chap 26, p 50-53.
9. Nelson RF, Guzman DA, Grahovac Z, Howse DCN. Computerized cranial tomography in Wilson disease. Neurology 1979, 29:866-868.
10. Saito T. Presenting symptoms and natural history of Wilson disease. Eur J Pediatr 1987, 146:281-265.
11. Schulman S, Barbeau A. Wilson's disease: a case with almost total loss of cerebnal white matter. J Neuropath Exp Neurol 1964, 22:105-119.
12. Selekler H, Kansu T, Zileli T. Computed tomography in Wilson's disease. Arch Neurol 1981, 38:727-728.
13. Starosta-Rubinstein S, Young AB, Kluin K, Hill G, Aisen A, Gabrielsen T, Brewer GJ. Clinical assessment of 31 patients with Wilson's disease. Arch Neurol 1987, 44:365-370.
14. Takano K, Kuroiwa Y, Shimada Y, Mannen T, Toyokura Y. CT manifestation of cerebral white matter lesion in Wilson disease. Ann Neurol 1983, 13:108-109.
15. Williams FJB, Walshe JM. Wilson's disease: an analysis of the cranial computerized tomographic appearances found in 60 patients and the changes in response to treatment with chelating agents. Brain 1981, 104:735-754.

CT hypodensity on cerebral white matter in Wilson's disease

Hipodensidade tomográfica em substância branca na doença de Wilson.

Publication Dates

Publication in this collection
22 Feb 2011
Date of issue
June 1991

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Barbosa ER, Scaff M, Comerlatti LR, Canelas HM. Hepatolenticular degeneration: a critical analysis of the diagnostic criteria on the, ground of 95 cases. Arq Neuro-Psiquiat (São Paulo) 1985, 43:234-242.

[2] 2. Berkow R. Wilson's disease in the Merck Manual: corrections (let). JAMA 1988, 258:2997-2998.

[3] 3. Canelas HM. Hepatolenticular degeneration: a comprehensive review apropos of 102 cases. Arq Neuro-Psiquiat (São Paulo) 1987, 45:197-212.

[4] 4. Danks DM. Disorders of copper transport. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 1989, p 1411-1431.

[5] 5. Figus A, Lampis R, Devoto M, Ristaldi MS, Ideo A, de Virgilis S, Nurchi AM, Corrias A, Corda R, Lai ME, Tocco A, Deplano A, Solinas A, Zancan L, Lee WH, Cao A, Pirastu M, Balestrieri A. Carrier detection and early diagnosis of Wilson's disease by restriction fragment lenght polymorfism analysis. J Med Genet 1989, 26:78-82.

[6] 6. Harik SI, Post JD. Computed tomography in Wilson disease. Neurology 1981, 31:107-110.

[7] 7. McGrary JA. Magnetic resonance imaging diagnosis of hepatolenticular degeneration. Arch Ophtalmol 1987, 105:277.

[8] 8. McDowell FH, Lee JE, Sweet RD. Extrapyramidal disease. In Baker AB, Baker LH (eds) : Clinical Neurology. Philadelphia: Harper and Row, 1982, chap 26, p 50-53.

[9] 9. Nelson RF, Guzman DA, Grahovac Z, Howse DCN. Computerized cranial tomography in Wilson disease. Neurology 1979, 29:866-868.

[10] 10. Saito T. Presenting symptoms and natural history of Wilson disease. Eur J Pediatr 1987, 146:281-265.

[11] 11. Schulman S, Barbeau A. Wilson's disease: a case with almost total loss of cerebnal white matter. J Neuropath Exp Neurol 1964, 22:105-119.

[12] 12. Selekler H, Kansu T, Zileli T. Computed tomography in Wilson's disease. Arch Neurol 1981, 38:727-728.

[13] 13. Starosta-Rubinstein S, Young AB, Kluin K, Hill G, Aisen A, Gabrielsen T, Brewer GJ. Clinical assessment of 31 patients with Wilson's disease. Arch Neurol 1987, 44:365-370.

[14] 14. Takano K, Kuroiwa Y, Shimada Y, Mannen T, Toyokura Y. CT manifestation of cerebral white matter lesion in Wilson disease. Ann Neurol 1983, 13:108-109.

[15] 15. Williams FJB, Walshe JM. Wilson's disease: an analysis of the cranial computerized tomographic appearances found in 60 patients and the changes in response to treatment with chelating agents. Brain 1981, 104:735-754.