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

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

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. BresolinI; L. PascuzziI; R. Melaragno FilhoI; Maria H. FontanaI; R. PécoraI; J. C. Souza DiasII

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.

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  • '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
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