Bilateral striatal necrosis, dystonia and optic atrophy in two siblings

V. Leuzzi, E. Bertini, A. M. De Negri, M. Gallucci, B. Garavaglia

Research output: Contribution to journalArticle

Abstract

Two siblings developed a neurological disorder in the first decade characterised by generalised dystonia, hypokinesia, and subacute visual loss. CT and serial MRI examinations showed bilateral lesions of the striatum, mainly in the putamen. The classification of these patients is discussed in relation to infantile bilateral striatal necrosis (IBSN), Leigh's disease, and Leber's optic neuropathy. The literature shows a clinical and aetiopathogenetic overlap between these syndromes. In our cases parental consanguinity and the involvement of a single generation suggest a new clinical condition with autosomal recessive transmission.

Original languageEnglish
Pages (from-to)16-19
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume55
Issue number1
Publication statusPublished - 1992

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Leigh Disease
Leber's Hereditary Optic Atrophy
Consanguinity
Corpus Striatum
Optic Atrophy
Hypokinesia
Dystonia
Putamen
Nervous System Diseases
Siblings
Necrosis
Striatonigral degeneration infantile

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

Cite this

Bilateral striatal necrosis, dystonia and optic atrophy in two siblings. / Leuzzi, V.; Bertini, E.; De Negri, A. M.; Gallucci, M.; Garavaglia, B.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 55, No. 1, 1992, p. 16-19.

Research output: Contribution to journalArticle

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