'Hallervorden-Spatz syndrome - infantile neuroaxonal dystrophy' complex: case report

Bresolin, A. U.; Pascuzzi, L.; Melaragno Filho, R.; Fontana, Maria H.; Pécora, R.; Dias, J. C. Souza

doi:10.1590/S0004-282X1988000100012

Abstracts

Case report of a 7 1/2-years old girl considered as being normal until the age of 2 years. From then on she progressed with gait disturbance, mental deterioration, dystonic movements, convulsions and dysarthria. She died of bronchopneumonia one year later. CT scan showed hyperdensity at the putamina, with no signs of cerebral atrophy. Pathological examination disclosed an intense red coloration of the putamina and axonal «spheroids» at electron microscopy.

A síndrome de Hallervorden-Spatz bem como a distrofia neuroaxonal infantil são patologias raras e os limites entre ambas são ainda imprecisos. Apresentamos o caso de menina de 7 anos e meio com rebaixamento mental, distonia, crises convulsivas e coriorretinite. CT mostrava hiperdensidade dos putâmens, sem sinais de atrofia cerebral. Ao exame anatomopatológico observou-se intensa coloração avermelhada dos putâmens, porém com ausência de pigmento férrico. À microscopia eletrônica foram observados os «esferóides» axonais. Por haver características de ambas as patologias, registramos este caso, como complexo «síndrome Hallervorden-Spatz-distrofia neuroaxonal infantil».

A. U. Bresolin^I; L. Pascuzzi^I; R. Melaragno Filho^I; Maria H. Fontana^I; R. Pécora^I; J. C. Souza Dias^II

^IServiço de Neurologia - Hospital do Servidor Público Estadual de São Paulo

^IIServiço de Anatomia Patológica - Hospital do Servidor Público Estadual de São Paulo

SUMMARY

Case report of a 7 1/2-years old girl considered as being normal until the age of 2 years. From then on she progressed with gait disturbance, mental deterioration, dystonic movements, convulsions and dysarthria. She died of bronchopneumonia one year later. CT scan showed hyperdensity at the putamina, with no signs of cerebral atrophy. Pathological examination disclosed an intense red coloration of the putamina and axonal «spheroids» at electron microscopy.

RESUMO

A síndrome de Hallervorden-Spatz bem como a distrofia neuroaxonal infantil são patologias raras e os limites entre ambas são ainda imprecisos. Apresentamos o caso de menina de 7 anos e meio com rebaixamento mental, distonia, crises convulsivas e coriorretinite. CT mostrava hiperdensidade dos putâmens, sem sinais de atrofia cerebral. Ao exame anatomopatológico observou-se intensa coloração avermelhada dos putâmens, porém com ausência de pigmento férrico. À microscopia eletrônica foram observados os «esferóides» axonais. Por haver características de ambas as patologias, registramos este caso, como complexo «síndrome Hallervorden-Spatz-distrofia neuroaxonal infantil».

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Acknowledgments - We thank to: Prof. Dr. E. Wildi, neuropathologist at the University of Geneve, for the valuable comments; Drs. Hassan C. Seba and Marco S. Guimarães, from the Hospital do Servidor Público Municipal de São Paulo, for the ophthalmological examination.

Departamento de Neurologia, Hospital do Servidor Público Estadual de São Paulo - Rua Pedro de Toledo 1800 - 04052 São Paulo SP - Brasil.

1. Adams RD, Lyon G - Neurology of Hereditary Metabolic Diseases of Children. Hemisphere, Washington, 1982.
2. Aicardi J, Castelein P - Infantile neuroaxonal dystrophy. Brain 102: 727, 1979.
3. Dooling EC, Schoene WC, Richardson EP Jr - Hallervorden-Spatz syndrome. Arch Neurol 30: 70, 1974.
4. Dooling EC, Richardson PE, Davis RK - Computed tomography in Hallervorden-Spatz syndrome. Neurology 30: 1128, 1980.
5. Elleder M, Jirasek A - New enzymatic findings in infantile neuroaxonal dystrophy. Acta Neuropath. (Berlin) 60: 153, 1983.
6. Herman MM, Huntterlocher PR, Benson KG - Electron microscopic observations in infantile neuroaxonal dystrophy. Arch Neurol 20: 19, 1969.
7. Lockman LA, Swaiman KF - Disorders of the basal ganglia. In: Swaiman KF, Wrigth FS (eds): The Practice of Pediatric Neurology. Mosby, St. Louis, 1982, vol.2, Pg. 934.
8. Malmstron-Groth AG, Kristnes NK - Neuroaxonal dystrophy in childhood. Acta Paed Scand 71: 1045, 1982.
9. Rosemberg S, Arita F, Campos C - Distrofia neuroaxonal infantil. Arq Neuro-Psiquiat (São Paulo) 43: 48, 1985.
10. Swaiman KF, Smith SA, Trock GL, Siddiqui AR - Sea blue histiocytes, lymphocytic cytosomes and Fess studies in Hallervorden-Spatz disease (Abstract). Neurology 30:379, 1980.
11. Vakili S, Drew LA, Schuching VS, Becker D, Zeman W - Hallervorden-Spatz syndrome. Arch Neurol 34: 729, 1977.
12. Zimmerman AW, Karimeddini MK, Ramsby GR, Zimmer AE - Hallervorden-Spatz syndrome: increased cerebral uptake of Fe⁵⁹ and demonstration of triatal iron deposits on CT scan (Abstract). Neurology 31: 129, 1981.

'Hallervorden-Spatz syndrome - infantile neuroaxonal dystrophy' complex: case report

Complexo «síndrome de Hallervorden-Spatz - distrofia neuroaxonal infantil»

Publication Dates

Publication in this collection
22 June 2011
Date of issue
Mar 1988

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

[1] 1. Adams RD, Lyon G - Neurology of Hereditary Metabolic Diseases of Children. Hemisphere, Washington, 1982.

[2] 2. Aicardi J, Castelein P - Infantile neuroaxonal dystrophy. Brain 102: 727, 1979.

[3] 3. Dooling EC, Schoene WC, Richardson EP Jr - Hallervorden-Spatz syndrome. Arch Neurol 30: 70, 1974.

[4] 4. Dooling EC, Richardson PE, Davis RK - Computed tomography in Hallervorden-Spatz syndrome. Neurology 30: 1128, 1980.

[5] 5. Elleder M, Jirasek A - New enzymatic findings in infantile neuroaxonal dystrophy. Acta Neuropath. (Berlin) 60: 153, 1983.

[6] 6. Herman MM, Huntterlocher PR, Benson KG - Electron microscopic observations in infantile neuroaxonal dystrophy. Arch Neurol 20: 19, 1969.

[7] 7. Lockman LA, Swaiman KF - Disorders of the basal ganglia. In: Swaiman KF, Wrigth FS (eds): The Practice of Pediatric Neurology. Mosby, St. Louis, 1982, vol.2, Pg. 934.

[8] 8. Malmstron-Groth AG, Kristnes NK - Neuroaxonal dystrophy in childhood. Acta Paed Scand 71: 1045, 1982.

[9] 9. Rosemberg S, Arita F, Campos C - Distrofia neuroaxonal infantil. Arq Neuro-Psiquiat (São Paulo) 43: 48, 1985.

[10] 10. Swaiman KF, Smith SA, Trock GL, Siddiqui AR - Sea blue histiocytes, lymphocytic cytosomes and Fess studies in Hallervorden-Spatz disease (Abstract). Neurology 30:379, 1980.

[11] 11. Vakili S, Drew LA, Schuching VS, Becker D, Zeman W - Hallervorden-Spatz syndrome. Arch Neurol 34: 729, 1977.

[12] 12. Zimmerman AW, Karimeddini MK, Ramsby GR, Zimmer AE - Hallervorden-Spatz syndrome: increased cerebral uptake of Fe⁵⁹ and demonstration of triatal iron deposits on CT scan (Abstract). Neurology 31: 129, 1981.