Bilateral striatal necrosis, dystonia and optic atrophy in two siblings. Issue 1 (January 1992)

• Record Type: Journal Article
• Authors: Leuzzi, V; Bertini, E; De Negri, A M; Gallucci, M; Garavaglia, B
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 55:Issue 1(1992)
• Page Start: 16
• Page End: 19
• Publication Date: 1992-01
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.55.1.16
• Languages: English
• ISSNs: 0022-3050

Abstract

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.